A second-generation polygenic risk score (PRS) based on genetic ancestry improves breast cancer (BC) risk prediction for all ancestries

Returning genomic risk for hereditary breast and ovarian cancer: Clinical outcomes through standard of care versus research return of results

The Clinical Utility of Plasma Circulating Tumor DNA in the Diagnosis and Disease Surveillance in non-DLBCL non-Hodgkin's Lymphomas

TP53 Variant Characteristics and Phenotypes of 96 Families Evaluated at an Academic Medical Center

A Descriptive Study of the Phenotype in Individuals with a Pathogenic/Likely Pathogenic Intronic Variant Discovered by RNA Sequencing

Clinical and Genomic Spectrum of Lynch Syndrome in Thailand: A 7-year Experience of Cancer Genetic Testing at Siriraj Genomics

Impact of Genetic Test Result Recall on Adherence to Cancer Risk Management Recommendations

Utility of RNA analysis in genetic testing for hereditary cancer is highly similar between large cohorts from two independent laboratories.

Assessing the characteristics associated with carriers of the CHEK2 S428F variant

Novel high-throughput functional models for MLH1, MSH2, and PMS2 have high accuracy for clinical variant classification

Characterization of complex hereditary cancer associated germline variants with long read sequencing

HMGCR expression in BCC and adjacent non-malignant skin

Implementing Tumour-First Genetic Testing and Parent-of-Origin-Aware Genomic Analysis into the Diagnostic Pipeline for Hereditary Breast Cancer

Have We Considered Mosaicism? A Nearly Missed Molecular Diagnosis of von Hippel-Lindau

Identification of novel germline mutations and copy-number variations in patients with small cell lung cancer

A recurrent POT1 Germline variant associated with early onset malignant melanoma, desmoid tumor and other malignancies

Comprehensive Overview and Analysis of a Longstanding Pediatric Cancer Genetics Program

Enhancing minimally invasive minimal residual disease detection of multiple myeloma using cell-free DNA whole-genome sequencing

Increased Risk of Hematolymphoid Neoplasms in Individuals with Heterozygous Deletion of a Fanconi Anemia Gene

Prevalence and Penetrance of LZTR1 Pathogenic Variants: To Screen or Not to Screen?

Clinical Integration of Potential Germline Findings from a Tumour Testing Precision Medicine Program

Addition of new Variant Classes to the CIViC data model

Retrospective analysis of Comprehensive Cancer Panel sequencing at Fox Chase Cancer Center to evaluate the QIAGEN Clinical Insight Interpret database

A comprehensive approach to evaluate genetic abnormalities in plasma cell neoplasms using optical genome mapping and next-generation sequencing

POLE AND Brain Tumors- Case Report and Review of the Medical Literature

Results from The Genetic Risk Analysis In Ovarian Cancer (GRACE) Study

Variants at Variance: An Assessment of Discordant Classifications and Phenotypes among TP53 Variants from the International LiFT UP Study

FISH Testing for cMET Amplification in 627 Molecularly Mutational Negative Patients with Non-Small Cell Lung Cancers: A Single Institution's Experience

Feasibility of Whole Body MRI and Multicancer Early Detection Testing in People at High Risk for Cancer Development

Molecular genetic biomarker analysis in brain tumors: Clinical and histopathological correlation of brain tumors with deletion of CDKN2A (9p21)

Recontacting Patients with a CHEK2 or ATM Pathogenic Variant for Updated NCCN Screening Guidelines: Report from an NCI-Designated Cancer Center

Validation of a clinical test for Genome-wide Homologous Recombination Deficiency Signatures in Solid Tumours

CHEK2 Variants Contributing to Hereditary Breast Cancer in Pakistan: A Tertiary Healthcare Centre Experience

Rare Within the Rare: A Case of Young-onset Meningioma Revealing the Diagnosis of BAP1-Tumor Predisposition Syndrome

BCR/ABL1 p230 Transcript in B-lymphoblastic Leukemia/Lymphoma: A Case Report

Confirmation of MYCN Amplification as the Cause for Retinoblastoma Eliminates Risks for RB Related Cancers in Proband and Family Members

Systematic characterization of cancer ecosystem evolution

Operationalizing Structured Curated Scientific Literature (CIViC and Hypothesis) in Developing Gene-Specific Recommendations of the ClinGen VHL Variant Curation Expert Panel

A Single-Center Perspective on Glioma Epidemiology from 2018-2023 in the Middle East

Molecular Genetic Biomarkers: Chromosome 1 and 19 Abnormalities in Glioblastoma are Associated with Adverse Molecular Features and Overall Reduced Survival

Single-cell and spatial transcriptomics integrated with bulk RNA-seq, uncovers differences in bidirectional tumor-macrophage crosstalk in IDHwt and IDHmut gliomas

Transgenic lines to investigate the impact of IL7Rα gain-of-function mutation during hematopoietic development in zebrafish embryos

Myelodysplastic Syndrome (MDS) Detected by Germline Genetic Testing for Hereditary Cancer

Identification of new fusion partners for ETV6 gene in hematologic malignancy by Next Generation Sequencing (NGS)

Case Report of APC Promoter 1B Deletion Associated with Classic FAP

Uncovering a Late Diagnosis: A Case Study on 22q11.2 Deletion in an Adult with Hypoparathyroidism

The Expression Profile of SLCO genes in Hepatocellular Carcinoma and Their Association with Clinical Outcomes

Double Trouble: Unraveling the Clinical Challenges of Dual Pathogenic Variant Carriers in Hereditary Cancer Predisposition Genes

Considering Cancer Risk in a Patient with CDH1-associated Blepharocheilodontic Syndrome (BCD1)

Identification of a Novel SDHB c.638T>G, p.M213R Likely Pathogenic Variant Accountable for Hereditary Paraganglioma-Pheochromocytoma Syndrome: A Case Report

A Clinical Algorithm to Guide Mainstreaming in Pediatric Oncology in Quebec

Multi-locus Inherited Neoplasia Allele Syndrome (MINAS) prevalence in Northern Mexican population: multicentric study

Two Cases of Angiocentric Glioma with MYB::QKI Fusion in a Single Institution

Comparison of Two Cases With the Same APC Genotype and Different Phenotypes

Novel genomic rearrangement leading to MYC over expression in the genomic setting of a pseudo-triple-hit diffuse large B-cell lymphoma

Myeloid Neoplasms with the t(3;12)(q26.2;p13)/MECOM-ETV6 Translocation: Report of Two New Cases and Review of the Literature

Retinoblastoma Discordant Monozygotic Twins and the Discovery of an Intron 15 RB1 Variant

Donor-Cell Derived Hematological Neoplasm: Case Presentations of a Complex and Rare Event

Detection of pancreatic cancer in liquid biopsies using integrative fragmentomics

RETROSPECTIVE STUDY OF THE IMPACT OF ENDOPREDICT: EXPERIENCE FROM AN HOSPITAL CENTER

Where Epigenetics,Cancer and Hypoxia meet

Trio-Based Whole Exome Sequencing Reveals Novel Pathogenic Variants in TMPRSS7 Associated with Neurodevelopmental Disorders.

Phenotypic spectrum of individuals with SLC16A2 variants: Allan-Herndon-Dudley syndrome

Persistence of Growth-Promoting Effects in Infants and Toddlers with Achondroplasia: Results from a Phase II Extension Study with Vosoritide

Expansion of the IRF2BPL-related disorder phenotype: initial updates from natural history study

CNS hemangioblastoma in pediatric patients with von Hippel-Lindau disease: When to start surveillance.

Neuronal Pathways by Differential Tractography Correlate with Clinical Outcomes Following Gene Therapy for GM1 Gangliosidosis: New Biomarker for Neurodegenerative Diseases

X-linked Alport Syndrome: From transcriptomic diagnosis to preclinical assessment of splice-switching oligonucleotide therapy using patient-derived cells and kidney organoids

Phenotypic Characterization and Genetic Interrogation of Patients with Cleidocranial Dysplasia

Engaging Participants in Data Sharing Enables Exploration of Dual Diagnoses

Evaluating the impact of gnomAD v4 on genetic prevalence estimates

Persistent Growth-Promoting Effects of Vosoritide in Children with Achondroplasia for up to 4 years: Update from Phase 3 Extension Study

A Rare Phenomenon: Double Trisomy Rescue Detected During Clinical SNP Microarray Testing

Persistent Growth-Promoting Effects of Vosoritide in Children with Achondroplasia is Accompanied by Improvement in Physical Aspects of Quality of Life

Efficacy, Safety and Tolerability of Chenodeoxycholic Acid In Adult Patients With Cerebrotendinous Xanthomatosis (RESTORE): A Randomized, Placebo-Controlled Phase 3 Study

Clinical Investigation of Bleeding Diatheses in Patients with Hermansky-Pudlak Syndrome

Persistence of Growth-Promoting Effects in Children with Achondroplasia Up to 7 Years: Update from Phase 2 Extension Study with Vosoritide

Paradigm shift in Occam's Razor and the need for genotype driven reverse phenotyping in rare diseases with complex phenotypes.

BeginNGS, an artificial intelligence-enabled genome sequencing system for newborn screening of 409 childhood genetic disorders.

Precision Medicine Approaches to Treatment for HNRNPH2 Mutations

Prevalence, Diagnostic Features, and Medical Outcomes of Females with Mosaic Turner Syndrome (45,X/47,XXX): Results from the InsighTS Registry

Exome sequencing vs chromosomal microarray for copy number variant detection

ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of the Validity of Hypertrophic Cardiomyopathy Genes

Enhancing understanding of SCN1A-related disorders through phenotype harmonization

Seizure severity across neurogenetic conditions in Simons Searchlight

Characterizing the Spectrum of CACNA1A-Related Disorders

The Second Known Case of CNP-related Hypomyelinating Leukodystrophy is Diagnosed by RNA-seq and Demonstrates an Abnormal Blood Methylation Profile

The ClinGen framework for naming monogenic diseases

Genomic disease contribution for unknown causes of infant mortality via genome sequencing of newborn dried blood spots and semiautomated interpretation

Willing but not (quite) ready: primary care provider perspectives on expanded genetic screening in children

Generating Advancements in Longitudinal Analysis in X&Y Chromosome Variations: Initial Data from the Multicenter GALAXY Clinical Data Registry and Biorepository

The eXtraordinarY Babies Study: Familial and perinatal predictors of 36-month language outcomes in prenatally diagnosed sex chromosome trisomy

Integration of Multidisciplinary Inclusion and Exclusion Criteria and Workflow Improves Access to Inpatient rGS and Changes Policies: Cleveland Clinic Example

A Genetics-First Approach to Identify Novel Variants of the Calcium Sensing Receptor Associated with Autosomal Dominant Hypocalcemia Type 1

Changes of café-au-lait spots intensity by selumetinib in neurofibromatosis type I

Functional Assessment of IGF-1 and hGH as candidate treatments for Phelan-McDermid syndrome

Scalable Bayesian variant interpretation of Lynch syndrome genes using genotype and phenotype data for over 1.5M patients referred for testing

Challenges and Errors in Selecting the Most Appropriate Clinical Genetic Testing

MEK Inhibitor Therapy for Lymphatic Malformations: A Focused Approach in Patients with RASopathies

Snyder-Robinson Syndrome, an ultrarare polyamine multisystemic disorder presenting in a craniofacial clinic.

MUC1 gene Coding-VNTR Alignment-free Genotyping Approach Augmented ADTKD Diagnosis in a Cohort of 3735 Patients with Hereditary Kidney Diseases

Characterizing the phenotypic spectrum and estimated penetrance of families with pathogenic loss of function variants in the FLT4 gene

An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration

Developing an Approach to Screening Rare Genetic Diagnoses for Amenability to Bespoke Genetic Therapy Development

Feasibility of Providing Genetic Cancer Risk Information to Families of Patients who are Deceased: Experiences of the GRACE Study

Precision Animal Modeling and VUS-Resolution in a Novel AXIN2-Related Disorder

Understanding Patterns in Variants of Uncertain Significance to Facilitate Reclassification Using Machine-learning Based Variant Effect Predictors

20,000 Type 1 Diabetes (T1D) Exome Cohort In Ukraine

Longitudinal Neurodevelopmental and Medical Outcomes in Patients with Molecularly Confirmed RASopathies

The ClinGen Pharmacogenomics Working Group: Developing Frameworks for Evaluating Pharmacogenomic Gene Validity and Actionability

Expanding the Phenotype Spectrum of Mendelian Diseases with a Genotype-First Approach

Prevalence of and Risk Factors for Autism Spectrum Disorder in Individuals with Turner Syndrome: Results from the InsighTS Registry

Characterization of Neurocognitive Differences between Mosaic and Non-Mosaic Pediatric Turner Syndrome Patients

Genome sequencing increases the diagnostic yield in exome-negative individuals with rare genetic disorders

Hypermobility Clinic: Innovative Workflow Supporting Patients and Provider Wellness

Genome and Exome Sequencing to Define Cardiac Phenotypes in Diagnostic Odyssey Cases

The Earliest Sign of Hypogonadotropic Hypogonadism: The Importance of Genetic Screening and Evaluation in Individuals with Microphallus

Consent frequency for genetic participation and receiving genetic results in White and non-White participants in SPARK

Synchronized long-read genome, methylene, epigenome, and transcriptome for a putative small fiber peripheral polyneuropathy research study

Drosophila Modelling Reclassifies VoUS in EED and PRC2 Members: Relevance for Clinical Interpretation and Rare Variant Burden Testing in Populations

Old School and New Findings: Expansion and Delineation of the Dysmorphological Phenotype of Fanconi anemia

Deep Neurologic Phenotyping and Biomarker Development in Bohring-Opitz Syndrome using EEGs, Neurodevelopmental Assessments, and DNA Methylation Signature

Inpatient genetics consults for nondysmorphic children: characteristics, testing patterns and diagnostic yield.

SeqFirst mitigates race-based disparities in access to a precise genetic diagnosis in hospitalized neonates

Investigating the contribution of an intronic expansion repeat in FGF14 as a genetic cause of late-onset ataxia

Primary Care Precision Medicine Clinic: A Retrospective Analysis of Patient Trends, Testing Modalities, and Evolving Visit Models from 2019-2023

Reclassification of Variants Following Renal Genetics Testing: Uncommon Yet Impactful for Diagnosis and Management

Insights into the Cardiac Phenotype in Kabuki Syndrome

Frequency of secondary findings and returning these results by self-reported race/ethnicity in SPARK

A Novel 13q31.3q32.3 Deletion Identified on Follow Up of an Inconclusive Prenatal Cell-Free DNA Screening for Trisomy 13

Effectiveness of Universal, First-tier Genome Sequencing for Critically Ill Infants on Extracorporeal Membrane Oxygenation

Evaluating the impact of Omega-3 fatty acid supplementation on lipid profiles in adults with PPARG polymorphisms: randomized, double-blind, placebo-controlled trial

Primary Care Electronic Medical Record Features Predicting Genetics Referrals

Loss-of-function pathogenic variants in RBM42 cause a neurodevelopmental disorder by modulating RNA processing

Genetic landscape of primary mitochondrial disorders due to pathogenic variants in the mitochondrial and nuclear genome in childhood and adulthood

Phenotype-driven Algorithms for Enhanced Rare Disease Diagnostics

Insights into Diagnostic Yield and Novel Genetic Etiologies for Unilateral Polymicrogyria

Development of a single comprehensive genomic test based on long-read sequencing technology for the diagnosis of rare genetic disorders

Unexpected Recurrence of Vascular Ehlers-Danlos Syndrome in Sibships Due to Parental Mosaicism for COL3A1 Variants

Review of Genomic Test Orders for Pediatric Inpatients Receiving Exome and Genome Sequencing

Modifiers of Arterial Stenosis in Williams Syndrome: Using Genomics to Discover Drivers of Vessel-Specific Outcomes

Exploring heterogeneity among gene lists proposed for newborn sequencing

SeqFirst DDi: Early whole genome sequencing improves access to early precise genetic diagnosis for childen with developmental differences.

Impact of Electronic Health Record Clinical Decision Support on Adherence to Recommended Care in Patients with Hereditary Cancer Risk

Phenotype and Genotype of Vietnamese Patients with X-linked Adrenoleukodystrophy

Abnormalities of TBX1 result in broad overlapping features of 22q11.2 deletion syndrome

SMAD6 Variants in Congenital Heart Disease

Genetic, biochemical and clinical properties of GLA p.Asp313Tyr variant in a large German cohort

Genetic Testing Reveals Underascertainment of Monogenic Diabetes: An Update from the Rare and Atypical DIAbetes NeTwork (RADIANT)

Fibrodysplasia Ossificans Progressiva (FOP): The Patient Experience

TTN Truncating Variants Are Enriched in Cardiomyopathy/Arrhythmia and Neuromuscular Cases and M-Band Exon 358 Contributes to Primary Cardiomyopathy/Arrhythmia

Multiplex detection and quantification of neurological disease-associated repeat expansions using the PacBio Sequel IIe Platform

Using long-read sequencing for genomic and epigenomic analysis in patient-derived samples with somatic IDH1 mosaicism

Efficacy of NGS Testing for Pediatric Endocrine Related Disease

Mosaic Autosomal Trisomies: A Karyotype Can Still Provide the Answer in Cases of Multiple Congenital Anomalies

High carrier frequency of CYP21A2 hotspot mutations in Southern India -Underscoring the need for genetic testing in Congenital Adrenal Hyperplasia

MOLECULAR and CLINICAL ANALYSES of LRP1 and LRP2 VARIANTS in HUMAN CONGENITAL CARDIAC LEFT-SIDED LESIONS

Non-coding variants create an enhancer cluster that causes resistance to thyrotropin via long-range interactions with a microRNA promoter

Translational Advancements in Cockayne Syndrome: Preparing for an AAV-mediated hERCC8 Gene Therapy Trial

PKD1 Hypomorphic Variant in a Girl with Tuberous Sclerosis Complex and Polycystic Kidneys

CCN6 Copy Number Variant and Null Variant in Monozygous Twins with Progressive Pseudorheumatoid Dysplasia Revealed by WGS and Deep Phenotyping

Polycystic kidney disease and hepatic fibrosis: phenotypic expansion of Sotos Syndrome

Familial Russell-Silver Syndrome: Hypomethylation of Imprinting Center 1 in Two Siblings

Diagnosis of Cornelia de Lange Syndrome Through EPISign Whole Genome Methylation Assay: Findings from a Twin Case

From Variant of Uncertain Significance to Pathogenic Variant: Solving an 8-year Diagnostic Odyssey for SGMS2-related Bone Fragility Spectrum Disorder

Mosaic Trisomy 17 and Tetraploidy: A Case Report

Back to Basics: Diagnosis of Lesch-Nyhan Syndrome in a Female via Karyotype Analysis

Diagnostic Delays in ATP1A3 Disorders

Tissue Specific Pathogenic NIPBL Variant causing Cornelia de Lange Syndrome: a Call to Clinicians

TERC variant of uncertain significance associated with bone marrow failure and cirrhosis: exposing barriers to TERC classification

DNA Repair-related Heritable Photosensitivity Syndromes: Mutation Landscape in a Multiethnic Cohort of 17 Multigenerational Families with High Degree of Consanguinity

Oldest reported patients with RAB18 deficiency due to RAB3GAP1 gene mutations

Challenges in Establishing Best Practices for Gene Therapy Informed Consent for Hemophilia A/B

Expanded Phenotype & Pathogenesis of the Novel TFE3-Related Lysosomal Disorder

A genotype-first approach to identifying treatable genomic conditions in a large healthcare-based population

Gaps in the phenotype descriptions of ultra-rare genetic conditions: review and multi-center consensus reporting guidelines

Clarification of Variant Reporting for Homologous Genes Resolved Through Systematic Literature Review - ACMG SF Genes CALM1, CALM2, and CALM3

Development of a scoring system to define lysosomal diseases

Evaluating The Clinical Diagnostic Yield of Fragile X and Chromosome Microarray Testing for Patients with Autism and/or Intellectual Disability

Exome Sequencing as a first-tier approach for rare forms of syndromic hearing loss.

Gain-of-Function CASR Variants, a Common Genetic Cause of Non-Surgical Hypoparathyroidism: Findings from a Sponsored Genetic Testing Program

MUCOLIPIDOSIS TYPE II: DATA FROM NORTHERN REFERAL PEDIATRIC CENTER IN VIETNAM

Sleep Correlates of Behavior Functioning in Cornelia de Lange Syndrome

Diversity of CFTR Mutations in a Pakistani Population: Implications for Comprehensive Genetic Testing and Genetic Counseling in Cystic Fibrosis

What Are the Educational Needs of Caregivers of Children with Pierre Robin Sequence?

Healthcare Utilization in Pediatric Patients with Noonan Syndrome

Vestronidase Alfa for the treatment of mucopolysaccharidosis VII (MPS VII): Updated results from a longitudinal, multicenter disease monitoring program (DMP)

Assessing Urolithiasis Polygenic Risk Score Predictive Performance Across Black and White Population Groups: Insights from the All of Us Database

Genotype-Phenotype Associations in CASK Disorders: A Systematic Literature Review and Report of Three Cases

Whole genome sequencing for the diagnosis of undiagnosed global developmental delay

Correlating Clinical Findings with Genetic Testing Results in Patients with Concern for Connective Tissue Disorders - A Retrospective Chart Review

Trisomy 5p: Long Recognized, Rarely Published

The Essential Role of Genetic Testing in the Phenotypic Heterogeneity of Stargardt Disease

Identification of Genes and Pathways with Varied Expression Using Publicly Accessible RNA-Sequencing Data from Nasal Swabs of COVID-19 Patients

The Genetic Prevalence of Molybdenum Cofactor Deficiency as a Result of MOCS1 and MOCS2: A Genetics and Biostatistics Perspective

The Diagnostic Dilemma of Tissue Specific Mosaicism: A Case of Mosaic Supernumerary Chromosome 8 Detected via Buccal Sample

Novel biallelic missense variants in C2orf69 cause Combined Oxidative Phosphorylation Deficiency type 53 (COXPD53), associated with early-onset neurodegeneration and autoinflammation

Discovery of a germline EZH2 variant reveals Weaver syndrome during sequencing of a B-cell acute lymphoblastic leukemia (B-ALL)

A Case of IPEX syndrome caused by a novel mutation in FOXP3 gene, and exhibited abnormal osseous findings

Expanding the phenotype of AGTR1-related autosomal recessive renal tubular dysgenesis: clinical considerations for neonatal care and genetic counseling

Monozygotic diamniotic twins homozygous for FAM20C missense variant causing lethal Raine syndrome.

Second individual with craniosynostosis and microdeletion including 14q22: premature fusion of cranial sutures and copy number variation

Severe Secretory Diarrhea Investigated by Genome Sequencing and RNA-seq Yields Ultrarare Diagnosis of Trichohepatoenteric Syndrome (THES)

Triple Diagnosis of X-Linked Chondrodysplasia Punctata, MECP2-Related Disorder, and Mosaic Jacobs syndrome in a Male Infant via Rapid WGS

Expansion of TAOK1 Related Developmental Delay Phenotype

Atypical Maternally Inherited CDKN1C Variant Causing IMAGe Syndrome in a Newborn

Germline NF1 variant and mosaic chromoanasynthesis of chromosome 12

SATB1-Related Disorder Secondary to Chromothripsis

Clinical Overlap in Two Patients With 46,XY DSD and Limb Abnormalities with Identical Variant in Candidate Gene LHX9

Double Somatic Mosaic for Pathogenic Variants in PIK3CA and GNAQ

Report of Individual Diagnosed with MPS type 1 Attenuated Form in Late Adulthood

Familial testing allows reclassification of CCDC22 variant in neonate with Ritscher-Schinzel syndrome-2

Mosaic genome-wide paternal uniparental isodisomy and PAH pathogenic variant identified in an infant with macrosomia, omphalocele, hepatomegaly and cardiac anomalies.

Vitreoretinopathy is common in children with CTNNB1 mutations.

Neonatal encephalopathy: Identification of underlying genetic causes

Where are All the Kids With Fragile X Syndrome? A Retrospective Study of the Diagnostic Odyssey in Georgia

Contribution of rare variants in the development of familial premature coronary artery disease in a cohort of cardiac patients

Long Read Sequencing Analysis of 120 Samples with Known and Challenging-to-Detect Clinical Variants

Exploring Episignatures as a Potential Diagnostic Tool for Diabetic Embryopathy

Expanding the Prenatal Phenotype of a Rare Syndrome Due to Variants in DPH1

Leveraging electronic health records (EHR) to identify patients with rare disease: An atypical case of Aromatic L-Amino Acid Decarboxylase Deficiency

More than an extra chromosome: unexpected multiple diagnoses in individuals with Down syndrome

Intersex/Differences of Sex Development (I/DSD) Traits: Exploring Their Association with 15% of Phenotypically Detailed Genetic Disorders

Expanding the Neuropsychological Phenotype of KAT6B Disorders: Overlapping features with KAT6A Syndrome

Pathogenic NOTCH1 Variation Displays a Spectrum of Cardiac and Extra-Cardiac Anomalies.

Decoding Genetic Orchestration: Understanding the Cellular and Molecular Mechanisms of the Hematopoietic Failure in Fanconi Anemia

Population Prevalence of Sex Chromosome Trisomy Varies by Genetic Ancestry

Genetic diagnosis of isolated Café au Lait Spots through Whole Exome Sequencing

Evaluation of the feasibility, diagnostic yield, and utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international pilot study

Pioneering Integrated Hereditary Prostate Genetic Testing Service in a Physician Office Laboratory

The Scope of Incorporating Preemptive Pharmacogenomics Testing for Public Healthcare

The Missing Patella; A Rare Case of Unilateral Patellar Agenesis in Autosomal Dominant Osteo-Onychodysplasia

NCOR2 is candidate gene for neurodevelopmental disorder including autism

Use of a DNA Methylation Signature for the Diagnosis of TET3-Related Beck-Fahrner Syndrome and Expansion of its Related Phenotype

Value of Early Evaluations with Comprehensive Genetic Testing in Congenital Heart Disease and Childhood Onset Heart Failure: Case Report

Novel Presentation of Costello Syndrome With Urinary Tract Involvement In Early Infancy.

A Novel STAG1 Variant Causing Developmental Delay, Failure to Thrive, Hypotonia, and Recurrent Infections

Novel Variants in the CACNA1B Gene: A Case Presentation of Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements

Phenotypic variability among three family members with RAD21 Cornelia de Lange Syndrome

Ironing out the BPAN phenotypic spectrum: a report of three new BPAN cases and review of the literature

Expanding the Phenotype of EIF3F-related Neurodevelopmental Disorder

When to Consider Genetic Testing in Infants with Hip Dysplasia

Atypical Presentation of Vascular Ehlers-Danlos Syndrome (vEDS)

Case report: A splice site variant in COL4A6 may cause recurrent stroke

An atypical presentation in a child with PTPN11 Noonan syndrome due to TRIO-related neurodevelopmental disorder

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant

Postnatal Progressive Craniosynostosis: An Unusual Presentation Leading to Cascade Diagnosis for Multiple Generations

CARDIOVASCULAR FEATURES IN ADULT INDIVIDUALS AFFECTED WITH TATTON-BROWN-RAHMAN SYNDROME

Congenital Disorder of Glycosylation Type IIa with a Novel Phenotype of Bilateral Congenital Glaucoma

Transcription factor HAND2 in syndromic congenital heart disease

A homozygous start-loss mutation in TERF1 causes a syndrome associated with long telomeres

A Novel WARS2 Variant Impacting Dimerization in Trans With a Recurrent Pathogenic Variant in a Child With Features of NEMMLAS

Multiomic Approach to Diagnosis, A Case Study in the Undiagnosed Diseases Program

Two Independent Molecular Diagnoses of Loeys-Dietz Syndrome in a Sibship and Their Children: A Case Report

Exome Sequencing Identifies Likely Pathogenic Variants in NF1, LMNA, and SDHC in Individual with Learning Disability and Multiple Congenital Anomalies

Ciliary analysis defines pathogenicity of novel WDR19 bi-allelic variants in patient with cranioectodermal dysplasia and mosaic chromosome 9p deletion

Distinct Clinical Presentations of Affected Siblings with Acute Intermittent Porphyria Caused by a Common Pathogenic Variant in HMBS

PIK3CA-Overgrowth in a Patient with Down Syndrome: Rare Coexistence and Its Management Implications

Psychosocial adjustment and distress in neonatal versus adolescent diagnosis of SRY-related gonadal dysgenesis: Two illustrative cases

Far from Futile: The Value of Perimortem Rapid Exome

Whole genome sequencing identifies biallelic variants in newly described EMC10-related neurodevelopmental disorder not detected by prior genetic testing

Jaberi-Elahi syndrome caused by maternal UPD 6 resulting in homozygous variants from a heterozygous parent.

Less Than One in a Million: Double Homozygosity for F2 and F5

Loss of Function Variants in ACTN2 in Pediatric Patients with Infantile-Onset Dilated Cardiomyopathy

Skeletal Anomalies in RAD21-Associated Cornelia de Lange Syndrome: Two Additional Cases

Renal Failure in an Infant with PAX2 Whole-Gene Duplication

Expanding the phenotype of an ultra-rare neurodevelopmental disorder associated with NACC1

DTC-GT Case Scenarios: Comparing ChatGPT Answers to an Approach Developed by Genetics Health professionals

RareResolve - Gene-Humanized Animal Models for Resolving Pathogenicity in Variants of Uncertain Significance (VUS).

Agnostic analysis of transcriptome sequencing of patients with suspected Mendelian Diseases

Novel genetic factors regulating human spermatogenesis.

Comparison of hEDS and HSD in a Pediatric Population

Genetic testing for patients with neurodevelopmental disorders in the inpatient psychiatry setting may reduce hospital stays and improve behavioral outcomes

The Importance of Genetics Consultation Prior to Testing for a Successful Rapid Genome Sequencing Program.

From Hypoplasia to Aplasia of the Trigeminal Nerve: A Recurring Feature in the Diganosis of Gomez-Lopez-Hernandez Syndrome

Automated Reanalysis of Clinical Genetic Test Results: High Variant Reclassification Rate

Rubinstein-Taybi syndrome-typical and atypical, Nemours experience and beyond

Overlapping Movement Disorder Phenotypes are a Hallmark of Leukoencephalopathy with Calcifications and Cysts

Clinical and Genetic Profiling of Cleidocranial Dysplasia: A Comprehensive Study of 28 Korean Patients

Uncovering the Clinical Spectrum of Citrin Deficiency in Korea: Insights from a Study of 30 Patients

Retrospective Analysis of Non-Ketotic Hyperglycinemia Patients in Central and Eastern Kentucky

Genotype-Phenotype characterization of channelopathies in pediatric patients at a high-complexity hospital in Cali, Colombia, from 2015-2023

Mosaic Costello syndrome presenting with striking intermixed patches of scalp hair and linear epidermal nevi

Chromosomal 7p deletion associated with Saethre-Chotzen syndrome

A Novel Case of Coffin-Siris Syndrome due to Duplication in 6q25.3

Mosaic copy gain of 16p with supernumerary chromosome formation: An emerging phenotype

Muenke Syndrome Associated with Juvenile Polyposis Syndrome

Kidney cysts: potential underrecognized phenotype of Coffin-Siris syndrome

Novel CYP19A1 variant in a Male with Overgrowth, Unilateral foot drop, and Nephrolithiasis: Expansion of Clinical Features in Aromatase Deficiency

Novel mutation in ZIC3 in a Peruvian family with variable phenotype VACTERL-H association

Acute Lymphocytic Leukemia in a Child with Beckwith Wiedemann Syndrome: Coincidence or related to loss of CDKN1C function?

Acquired Macrocephaly with Impaired Intellectual Development (MACID): First reported case of an affected child and parental mosaicism

Alternative Diagnoses of PHACES Syndrome with Overlapping Features

Third Patient with Biallelic Variants in SMAD6 with an Overlapping Phenotype: Delays, Dysmorphic Features, and Cardiovascular Problems

A novel variant causing BCAP31-related syndrome in a male incidentally found to have glutaric acidemia III

Case Study: Germline Chromoanagenesis Associated With Global Developmental Delay, Dysmorphic Features and Failure to Thrive

A Pediatric Patient with a Novel Duplication of 1q21.2 to 1q25.3: A Case Report

Biallelic variants of uncertain significance in a newborn with Generalized Arterial Calcification of Infancy

Expanding the Phenotype of Hyper-IgE Syndrome: Heterozygous VUS in IL6ST with Elevated Serum IgE and Isolated Abscesses

Proposing pathogenicity of an SGCE variant of unknown clinical significance in a 17-year-old with new onset dystonia

Use of Dextrose containing fluids and intralipids in a patient with KCNA1 related neuromyotonia

Rare mechanisms causing UPD(14)pat and UPD(14)mat

Presentation of Dual Molecular Diagnoses of Two Patients with Neurodevelopmental Disorder

Leptomeningeal Cavernomatosis and Non-Hemorrhagic Lacunar Strokes: An unusual phenotype for familial cerebral cavernous malformations

A novel nonsense variant in the DMBX1 gene associated with neurodevelopmental delay: A case report of three siblings.

PACS2-related Developmental and Epileptic Encephalopathy: A Review of Molecular Mechanisms and Clinical Aspects of a Rare Genetic Disorder

Agenesis of olfactory apparatus due to intragenic deletion of SIN3A and MAN2C1 resulting in Witteveen-Kolk syndrome

Missense Variants in SRCAP; Expansion of Phenotypic Manifestations Associated with non-FHLS SRCAP-Related Neurodevelopmental Disorder

Noonan Syndrome Associated with a Homozygous Deep Intronic Variant in LZTR1 Gene Confirmed by RNA Sequencing

Kagami-Ogata Syndrome: The Indispensable Role of Clinical Assessment and Utilization of Advanced Molecular Technologies

Assessing and addressing the burden of VUSs within adult medical genetics practices

Rapid complement mediated TMA diagnosis and early intervention in a renal intensive care unit using Nanopore technology

Elevated Prevalence of ACMG Medically Actionable Variants in Women with Mayer-Rokitansky-Küster-Hauser Syndrome

Hallermann-Streiff syndrome - characteristic features and diagnostic overlap

Circadian and behavioral differences with Rai1 haploinsufficiency in the setting of hyperphagia-induced weight gain

A Case of Congenital Myasthenic Syndrome with AChR Deficiency due to Biallelic Variants in CHRNE Gene

A Rare Report of a Child with Mosaic Trisomy 4

Terminal 7q Deletion: How Does Inferior Cerebellar Vermis Hypoplasia Translate to Pathology in a Clinical Setting?

Expanding the Phenotype of NAA10 Related Ogden Syndrome

Identification of de novo DNM1L mutation in Korean infancy presenting with failure to thrive, dicarboxylic aciduria and lactic acidosis

Role of Comprehensive Renal Genetic Testing in Diagnosing a RMND-1 Mitochondrial Disease in Two Adult Cases Exhibiting Variable Disease Phenotypes

Variants of Uncertain Significance in Genes Associated with Inherited Connective Tissue Disorders Pose Unique Challenges

Association Between Weiss-Kruszka Syndrome (WSKA) and Obesity

Multidisciplinary cooperation for perinatal management following the genetic diagnosis of ATP1A3-related neurological disorder.

A Case of Homozygous LMNA c.991C>T (p.Arg331Trp) Laminopathy with Predominant Cardiomyopathy.

Vision and Enamel Anomalies in Jalili Syndrome: Case Study and Genetic Insights

An Alpha-mannosidosis journey to the diagnosis: A case report and literature review

Think Beyond a Unifying Diagnosis - A Case of Dual Diagnoses of Klinefelter Syndrome and DYNC1H1-related Disorder

Rapid genome sequencing and RNA analysis provides early diagnosis of Ritscher-Schinzel type 2 syndrome for infant with evolving phenotype

A heterozygous 287 kb deletion of the X chromosome in a Peruvian girl with Dystrophinopathy

Comorbidity of Two Uncommon Chromosomal Disorders: First Reported Case of 49,XXXXY and Cornelia de Lange Syndrome

The Conundrum of Cardiovascular Imaging and Genetic Testing in the Context of Nonspecific Connective Tissue Findings

The importance of genetic counseling for families with hyperinsulinism.

The diagnostic journey of Mexican patients with Verheij Syndrome

Schaaf-Yang Syndrome - A Rare Syndrome Resulting From a de novo Pathogenic Variant in MAGEL2 on 15q11

Novel SLC26A2 Variants in Two Adults with Autosomal Recessive Multiple Epiphyseal Dysplasia type 4, Informed by Genotype-Phenotype Correlation

Connecting Features in a Patient with Supernumerary Ring Chromosome 1

Novel Familial Variants in the TDGS Gene Associated with Catel-Manske Syndrome and Distinct Phenotypes Between Male Siblings

Recurrent pulmonary hemorrhages as a presenting symptom of congenital dysfibrinogenemia in a hospital patient identified from rapid whole genome sequencing

SUSPECTED CYP26B1-RELATED DISORDER IN A MIXTEC PATIENT WITH CRANIOSYNOSTOSIS AND SKELETAL ANOMALIES: A CASE REPORT AND LITERATURE REVIEW

Rare case of double aneuploidy chromosomes 20q-21q, the importance of precision medicine in the new era

EXPANDING THE PHENOTYPE SEEN IN SPEG-RELATED CONGENITAL MYOPATHY

De novo Truncating Variants in ZNF865 - a Putative Cause of a Neurodevelopmental Disorder

Epidemiological Assessment of Autosomal Recessive Founder Mutations in the Canadian Mennonite Population

Genetically-determined variants lead to to neuronal hyperexcitability and clinical psychosis/catatonia: case series.

Respiratory distress in the setting of a right diaphragmatic eventration in a newborn with a pathogenic FLNA gene variant

An Adult with Kagami-Ogata Syndrome Misdiagnosed as Freeman-Sheldon: The Importance of Genetics Follow-up

Novel and Very Rare Causative Variants in the Transglutaminase-1 Gene of Vietnamese Patients with Lamellar Ichthyosis

An atypical presentation of Williams syndrome in a patient with a co-occurring FOXP4 likely pathogenic variant: A case report

CEP78-Associated Cone-Rod Dystrophy and Hearing Loss Unveiled through Retinal Dystrophy Panel: Resolving Uncertainty in a Family with Inconclusive WES

A Novel Pathogenic Variant in NALCN Gene in a Newborn with CLIFAHDD Syndrome

Rapid genome sequencing detects complete paternal UPD6 leading to diagnosis of Transient Neonatal Diabetes Mellitus with prompt treatment and counseling

AGTPBP1-related Neurodevelopmental and Movement Disorder in a Child with Ataxia and Developmental Delays

Yet Another Neurodevelopmental Single Gene Disorder: G3BP1-Related Disorder

Decoding the GANAB Enigma: Novel Insights into Pediatric Cystic Kidney Disease

A Novel Candidate Gene for Syndromic Bone Marrow Failure: Haploinsufficiency of SETMAR in a Child with Severe Aplastic Anemia

An Atypical Presentation of 17q12 Recurrent Deletion Syndrome Resulting in the Misdiagnosis of Meckel-Gruber Syndrome: A Case Report

Blepharophimosis-Intellectual Developmental Disorder Syndrome, First Reported Case in Hispanic population

Novel RET Variant in Two Unrelated Patients with Hirschsprung disease and Congenital Anomalies of Kidney and Urinary Tract

A Sotos syndrome case report: Describing the complex work-up following a variant of uncertain significance in the NSD1 gene

A novel SLC9A6 variant identified in an autistic boy with epilepsy- Christianson Syndrome

Comparing Parental Perspectives of Raising Children Affected with Inherited vs. De Novo Marfan Syndrome

Fidrisertib (IPN60130) for the Treatment of Fibrodysplasia Ossificans Progressiva: Methodology of the Randomized, Double-Blind, Placebo-Controlled Phase II FALKON Trial

Single Cell RNA-seq Analysis of Skin Tissue from Individuals with Hypermobile Ehlers-Danlos Syndrome

DIGENIC INHERITANCE OF PATHOGENIC VARIANTS IN DICER1AND CACNA1I CAN PRESENT AS GLOW SYNDROME

A 33-year-old male diagnosed with Pitt-Hopkins Syndrome: The Spectrum Broadens

Double Heterozygous Variants in ACVRL1 and GDF2 causing Hereditary Hemorrhagic Telangiectasia and GDF2-Related Vascular Anomaly Syndrome

Deletion of exons 10 and 11 in FGFR2: mother and daughter with sagittal craniosynostosis and micrognathia.

Milder Symptom Presentation of De Novo NARS1 Pathogenic Variant: A Case Report

Novel variant of unknown significance in RYR2 in a patient with suspected Catecholaminergic Polymorphic Ventricular Tachycardia: a case to reclassify

Patient with Galactosemia and Primary Ovarian Insufficiency Undergoes IVF with Oocyte Retrieval prior to Conceiving Spontaneously

EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder

A variant in KIF4A segregating with an X-linked ocular and neurodevelopmental phenotype in a multigenerational family

Expanding the Phenotype: Coarctation of the Aorta as a Novel Clincal Feature of Baraitser-Winter Syndrome

Potential founder effect in PPT1 in CLN1 disease in Mexican-Mestizo Population

Student Experiences and Reflections on Rotations with Co-Supervision

EEF2-related neurodevelopmental disorder is clinically recognizable

Novel variant in WARS2 GENE: Clinical evaluation and genotype-phenotype of a Parkinsonism neurodevelopmental disorder

Aplasia cutis congenita associated with trisomy 21, a unique presentation in a 5-month-old female

Neurodevelopmental Diagnoses in Oculocutaneous Albinism Type II

A novel mutation in HSPG2 gene causing Schwartz Jampel Syndrome

22q11DS with maternal mosaic nonoverlapping isodicentric 22q11 duplication

Use of multigene panel advantages in clinical suspicion of neurofibromatosis type 1: cases series

A Novel Inherited Frameshifting Variant in UBA2 Gene: A Case Study of Highly Variable Phenotype in a Family

Uptake of a Chatbot for Disclosure of Germline Genetic Test Results through a Universal Genetic Testing Program

Exploring Diagnostic Yield and Challenges in Exome Sequencing in Highly Consanguineous Tamil Nadu Cohort from South India.

Reconciling Medical Genetics Educational Competencies and Closing Gaps in Undergraduate Medical Education

Precision Child Health: Integrating a consultative Pharmacogenetics (PGx) program into Clinical Care at the Hospital for Sick Children

Secondary Findings Analysis in the Personalized Environment and Genes Study: Reduced Return in Disorders with Autosomal Recessive Inheritance Pattern

Marfan Syndrome Evaluation: Improving Access through an Alternative Care Delivery Model

Barriers and facilitators to implementing genomic medicine: A scoping review of the global landscape

Streamlining precision medicine: cancer predisposition germline testing in a large, integrated health system

The Clinician-reported Genetic testing Utility InDEx: A Revised Tool to Quantify Genome-wide Sequencing Utility in Neonatal Intensive Care (C-GUIDE NICU)

Parent and healthcare personnel perspectives on challenges to family-centred care for children with inherited metabolic diseases: a qualitative analysis

Adherence with NCCN Recommendations for Patients with Pathogenic/Likely Pathogenic Variants in BRCA1 and BRCA2, a Single Institution Study

The clinical utility of genome-wide sequencing for rare disease: A multidimensional map

A Comprehensive Study of Spinal Muscular Atrophy Testing Referrals' Data Among the Iranian Population Since 2006

Improving the Capacity of the Clinical Genetics Workforce through an Implementation Science Lens

Navigating the Genetic Odyssey: Enhancing Early Recognition and Referral for Precise Diagnosis Through Human Phenotype Analysis

A Global Delphi Consensus Approach to Monitoring and Integrated Care Coordination of Patients with Alpha-Mannosidosis

Increasing access to precise genetic diagnoses for inpatients at Seattle Children's Hospital

Implementation strategies to improve access to genetic services in a low-resources setting: experience in Chile's Valparaíso Region

Pediatric exome sequencing compared with standard genetic testing: An analysis of private payer claims data

Improving Access to Genetics Care Through the Use of eVisits

Enrollment of a Diverse Population into a Trial of Newborn Genomic Sequencing: Preliminary Data from the BabySeq Project

OPTIMIZING ACCESS TO GENETICS SERVICES FOR INDIVIDUALS WITH AUTISM SPECTRUM DISORDER THROUGH A 'GENETIC-COUNSELOR-FIRST' ASSESSMENT MODEL

The 'Goldilocks' panel: Determining the optimal number of genes for reproductive genetic carrier screening.

Hypermobility EDS: succesful implementation of a referral screening program.

Improving access to exome sequencing in medically underserved populations through the Texome Project: A summary of the first 74 cases

Predictors of Genetic Counseling Uptake When Using a Family Health History Platform for Hereditary Cancer Risk

Assessing Comfort Levels in Emergency Medicine Physicians When Managing Inborn Errors of Metabolism

Clinical Treatment Patterns and Outcomes of Sickle Cell from the Arkansas Newborn Screening Long Term Follow-up Database Study: 2011-2023

U.S. Genetics Professional Workforce in 2023

Optimizing Consent: An Analysis of Recruitment Data for the First 11,000 Consented ScreenPlus Parents

Delivery of Monogenic and Polygenic Results to Participants in the Genomic Medicine at Veterans Affairs (GenoVA) Study

Workflow Evaluation of Individuals for Abnormal Newborn Screens in the Era of Workforce Shortage: Experience From Two Academic Centers

Do social needs at diagnosis influence acceptance of genetic testing? A retrospective sample of people with ovarian cancer

Risk Management for Pediatric Patients with Clinically Actionable Pathogenic and Likely Pathogenic Variants with Onset Throughout the Lifespan

Sleeping Giant: Underrecognized Clinical Genetics Programs Across the Vast Veterans Affairs (VA) Network

Long-Term Results and Challenges of Newborn Screening for Classic Homocystinuria in New York State

Newborn genomic sequencing for Duchenne muscular dystrophy: Model-based insights

Medically-Actionable Disease Risk Variants in a Diverse Population

A Descriptive Analysis of Genetic Factors Identified in 100% Pediatric Mortality Review

Project GIVE: Expanding Genetic Testing to Underserved Areas in the Rio Grande Valley Using an EHR-Agnostic Tele-Engagement Platform

Preparation to use a genetic risk score to screen newborns for type 1 diabetes risk in Early Check

Uncertainty and information management for Lynch syndrome in a genomic screening cohort: connections to clinical engagement

The Genetics Navigator: The development and usability testing of a new patient-facing digital health application to support clinical genetic testing

Patient and Clinician Perspectives on a Digital Health Platform for the Longitudinal Management of Genetic Cancer Predisposition

The impact of mainstreaming general genetic testing on patient wait-times

Utilization of One Month Follow-Up to Increase Uptake of Genetic Counseling Appointments in a Healthcare-based Population Genomic Screening Cohort

The Translational Genomics Hub (TGH): A New Precision Medicine Tool at the University of Alberta

Personalized Prescriptions: Potential Clinical Impact of Pharmacogenetic Screening

Returning all clinically relevant findings from genomic sequencing: Preliminary results from the Incidental Genomics RCT

The Mainstream Model Improves Equitable Access to Germline Testing for Veterans Affairs Patients with Advanced Prostate Cancer

Medical Genetics Providers Require Training and Institutional Support to Integrate Pharmacogenomic Testing

Insurance Access to Genetic Testing: Experiences in the Midwest

Evidence-Based Methodology for Developing Coordinated Genetic Service Recommendations in Ontario

Enhancing Physician Support for Genetic Testing in Familial Hypercholesterolemia with a Comprehensive SmartSet

Cost-Effectiveness Analysis of Personalized Medicine in Cardiovascular Prevention through Adjusted Polygenic Risk Score Screening and Monitoring

Point-of-care Genetic Testing with Paired E-consult: An Effective Alternative Service Delivery Model for Patients with Breast Cancer

Developing the Patient-reported Genetic testing Utility InDEx (P-GUIDE): Assessing Value of Genetic Testing from Patients' Perspectives in Multiple Clinical Contexts

Development, Implementation, and Preliminary Results of Rapid Targeted Genomic Analysis in the Newborn Period

Meeting the increasing need for inpatient genetics services: experience at Texas Children's Hospital

Piloting an Australian Quality Assurance Program Interpretive Module for Genomic Testing

The Undiagnosed Rare Disease Clinic Program of Indiana University: lessons learned from the first 100 patients enrolled (Phase-I pilot)

Newborn screening using CK-MM: Preferences of newborn screening professionals after an initial positive screen for Duchenne muscular dystrophy

Evaluating Parental Empowerment and Satisfaction in Neonatal Intensive Care Units for Families Experiencing Genetic Testing: a Mixed-Methods Study

Curious But Cautious: Patients' Preferences for All Types of Clinically Actionable Genomic Incidental Results

International policies guiding the identification, analysis, and management of secondary findings from genomic sequencing: results from a systematic review

Genome-Wide Sequencing Ontario (GSO): Canada's First Provincial Clinical Genome-wide Sequencing Service

Development of a Provincial Genetics Program in Ontario

Twenty years of newborn and carrier screening in the Old Order Amish population of Southwestern Ontario: evolution and evaluation.

Design and early findings from a mixed-methods study exploring the genomics era role of the medical geneticist in Canada

Developing a Health Human Resource Funding and Clinical Oversight Model for Genetic Services: The Ontario Approach

Using Direct Messaging for Patient Engagement in Inherited Cancer Risk Management: A Pilot Intervention

Integrating exome sequencing into a pediatric endocrinology clinic: A Genetics and Endocrinology Collaborative Quality Improvement Initiative.

The Clinician-reported Genetic testing Utility InDEX (C-GUIDE): Establishing Content Validity for a New Measure for Sequencing-based Newborn Screening

Universal Germline Genetic Testing for Breast Cancer at the Princess Margaret Cancer Centre

A novel team approach to evaluating and counselling children with variants of uncertain significance on microarray

Genetic Counselors' Perspectives on Shifting Emphasis to Post-Test Counseling Following Germline Genetic Testing in Cancer Care

Provider perspectives on genomic care in safety-net neonatal intensive care units

Bringing Equitable Access to Cancer Genetic Services: Implementing & Adapting a Digital Hereditary Cancer Screening Tool at an FQHC

How do patients with hereditary cancer syndromes navigate the healthcare system? A qualitative comparative study across Canada.

Cost not a barrier for adopters of pharmacogenetic testing: results from a study of causal models in different healthcare systems

Clinical utility returning of all types of medically relevant genomic sequencing findings: An observational study

Genetic Providers' Views on Trauma-Informed Care in Genetics Clinics

Implementing Genomics-Informed Risk Assessment for Common Complex Diseases - A Qualitative Case Study in an Academic Health System

Improving Patient Care for Recurrent Pregnancy Loss patients via a Multidisciplinary Relationship between OBGYN and Northwell Labs Across Northwell Health

A Novel Alternate Service Delivery Model for Genetic Counselling in a Rural Population: The New Brunswick Experience

Community-Oriented Genetics: Establishing A New Pediatric Genetics Clinic in The Muslim-Arab City of Tayibe, Israel

Mental Health in Fabry Disease: Results from a North American Survey of 401 Participants

A Model for Genetic Counselor Result Triage in a Busy Pediatric Neurology Division

With great panels comes great responsibility- in pursuit of a well-evidenced age-based genomic screen

Doing no Harm: Exploring the Psychosocial Impacts of Receiving Secondary Findings from Whole Exome Sequencing

Exploring genetic testing for rare disorders of obesity: Experience and perspectives of pediatric weight management providers

Global Genetic Health Assessment Project, Let's Not Leave Anyone Behind.

Innovations in Education: Empowering Child Neurology Residents with Basic Concepts in Genomic Testing Through a National Curriculum

Evaluating family-centered care in Pediatric Orthopedics at BC Children's Hospital: parents'/caregivers' perspectives

NextGen Training of Medical Professionals for Evolving Genomic Interventions

Generating a framework for curating mechanism of disease in monogenic conditions: a consensus effort of the Gene Curation Coalition

Detection of Isodisomy Utilizing SNP Microarray: Frequency, Ascertainment, and Implications

Repeated Exome Reanalysis Is Most Impactful after Two Years and the Majority of New Findings Are in Neurodevelopmental Genes

Genome-wide short tandem repeat expansion screening using optical genome mapping

Summary of Findings from Comprehensive Genome Sequencing Performed in a Healthy Population Cohort

The Rare Genomes Project: Improving access to genomic sequencing and identifying causes of rare disease

Recalibration of Scoring Metrics to Assess the Pathogenicity of Constitutional Copy Number Variants (CNVs)

Genetic findings in afor cohort of over 1,800 patients tested with a combined cardiomyopathy and arrhythmia panel

Using the large-language model GPT4 to programmatically determine functional evidence supporting or refuting variant pathogenicity from literature

Towards developing a comprehensive workflow for the identification of structural variants using clinical whole-genome sequencing

Care4Rare Canada: Application of a Multi-omics Protocol to Diagnose Rare Genetic Disease Patients at the End of Standard-of-Care

Comparison of GLA variant profile in newborn screening confirmatory testing and diagnostic testing for Fabry disease

CSMD1 Intragenic Exonic Deletions Strengthen the Association with Neurodevelopmental Disorders

Clinical Utility of Optical Genome Mapping as an Additional Test to Standard Cytogenetic Workup of Hematological Malignancies

Systematic review and reclassification of 20 years of RB1 single nucleotide and copy number variants

Amplification-Based Nanopore Sequencing Accurately Detects HBA and HBB SNVs, Indels, and Structural Variants in Clinical Thalassemia Samples

The qMini Assay Identifies an Overlooked Class of Splice Variants

Enhancing Data-driven Disease Detection in Newborns (ED3N): Designing a model to Improve Newborn Screening Risk Assessment

De Novo and Inherited Variants in DDX39B Cause a Novel Neurodevelopmental Syndrome characterized by Hypotonia, Epilepsy, and Short stature

Diagnostic yield of digital gene panel from genome sequencing in common multifactorial endocrine and metabolic disorders

Evaluation of Stop-Loss and Frameshift Variants Extending Translation Beyond the Reference Stop Codon Detected by Carrier Screening

Examining Likely-somatic Variants in Cancer Susceptibility Genes Identified Through Germline Multigene Panel Testing

CYTOGENETIC AND MICROARRAY ANALSYSIS OF PRENATALLY DETECTED CONGENITAL HEART DEFECTS (CHD): DIAGNOSTIC FINDINGS AND VARIATION AMONG CHD SUBTYPES

Detection of Single-Gene Copy-Number Variations Through High-Resolution Exon-Targeted Chromosomal Microarray Analysis

Reducing Disparities in Cystic Fibrosis Newborn Screening in New York State

The ClinGen Syndromic Disorders Gene Curation Expert Panel

Diagnostic Challenges and Phenotypic Variations in Chimeric Genome-Wide Maternal and Paternal Uniparental Disomy: A Prenatal and Postnatal Perspective

All for One Clinical Genomics Network: Linking Canadian Diagnostic Laboratories to Share Genome-wide Sequencing Data to Support Rare Disease Diagnosis

Gene-disease validity assessments in pediatric movement disorders: prospective experience and retrospective analysis of concordance with expert curated panels

Beyond Single Nucleotide Variants and Copy Number Variations: Spinal Muscular Atrophy and Repeat Expansion Disorders Screening by Whole Genome Sequencing

pb-StarPhase: A Phase-Aware Pharmacogenomic Diplotyper for Long-Read Sequencing Data

Clinical Utility of MS-MLPA for the Diagnosis of Prader-Willi/ Angelman Syndrome: the GGC Experience

Genetic Modifiers As a Basis For Phenotypic Variability in Mosaic Trisomy 8

Utility of cytogenomic SNP microarray for bone marrow failure syndrome patients

Diagnostic utility of NGS testing in a highly consanguineous population: findings from 1400+ Iranian patients with Mendelian disorders

RNA Sequencing as a Second-Line Test for Rare Disease

Finding answers for clinical exome-negative patients: The University of Wisconsin Undiagnosed Disease Program

Identification of pathogenic genetic variants using whole genome sequencing in patients with epilepsy

Optical genome mapping for genome-wide structural variation analysis in hematologic malignancies: prospective study to determine impact on diagnosis and management

Improving Genome Diagnostics of Hemiplegic Migraine

Identification of trinucleotide repeat expansions in DMPK using rapid whole genome sequencing

Real-world comparison of HLA callers from exome sequencing data

Improvement of Variant Reclassification in Genetic Neurodevelopmental Conditions: Simons Searchlight Research Registry

The Addition of Exome-Wide CNV Analysis to Multi-Gene Panels Contributes to Positive Yield

The clinical genome: validation data beyond clinical exome

Low rate of clinical follow-up for potential germline variants identified in hematologic malignancies with a next generation sequencing panel

Genome-Wide Sequencing Ontario (GSO): Insight into Ontario's rare disease landscape

Is it time to switch to AlphaMissense for in-silico missense predictions?

Optimizing Diagnostic Potential: Impact of Familial Sample Configurations on Exome Sequencing

Three years of newborn screening for MPS1 in Ontario: challenges of screening for the severe end of a disease continuum.

A PCR/Nanopore Assay for Accurate Variant Detection in Hard-to-Decipher Carrier Screening Genes with Automated Analysis Software

Benchmarking phenotype-driven variant prioritization algorithms demonstrates low sensitivity for diagnosing rare Mendelian disorders in pediatric patients

Genetic results in a cohort of 489 patients with inherited myopathies

Cytogenetic Findings in a Clinical Next Generation Sequencing Panel for Very Early Onset Inflammatory Bowel Disease

Performance and impact of clinical genome sequencing in patients with suspected rare genetic diseases in Peru

Utility of Highest Pathogenic Variant Frequency Approach for Application of BA1/BS1 ACMG Criteria to Reduce Variants of Uncertain Significance

Clinical utility of structural variant calling using breakpoint analysis method for targeted NGS gene panels

Pool of Normal Optimisation for NGS-Based CNV Calling in a Clinical Setting

Genomic Hot Spots in Coding Regions: Identifying Regions Enriched for Heterozygote Excess Variants

A novel 198 kb partial duplication in KMT2C: report of a patient with features of Kleefstra syndrome-2 and adrenal ganglioneuroblastoma

Multi-Modal Testing, Including Long-Read Sequencing, to Elucidate an Unsolved Case of Dyskeratosis Congenita

Case Report: Haploinsufficiency of the HMGB1 Gene Causes 13q12.3 Microdeletion Syndrome

Genome-wide association studies of thyroid-related hormones, dysfunction, and autoimmunity among 85,421 Chinese pregnancies

Clinical and Genetic Findings of >3,900 Individuals Tested via the navigateAPDS Sponsored Genetic Testing Program

Exonic SVs driven by Alu/Alu-mediated genomic rearrangements contribute on a large scale to alleles underlying human Mendelian rare disease traits

Long Read Sequencing for the Analysis of Repeat Expansion Disorders

Lp(a) genetic risk screening using genome sequencing

A Newly Derived DNA Methylation Signature for Koolen de Vries Syndrome Addresses the Diagnostic Challenges of the 17q21.31 Locus

Genomic breakpoint analysis facilitates identification of complex rearrangements and re-classification of non-tandem duplications in the DMD gene

Large-Scale Genome Reanalysis of 159 Individuals Affected by Undiagnosed Genetic Diseases from the Stanford Center for Undiagnosed Diseases.

Amplification and Long-Read Sequencing of the Mitochondrial Genome

Application of AlphaMissense Prediction to Pathogenicity Classification of Missense Variants from Clinical Exome Sequencing

Development and Deployment of Clinical Genome Sequencing using a Cloud-Based Platform

Unveiling Noncoding DMD Variants: Synergizing RNA Sequencing and DNA Sequencing for Enhanced Molecular Diagnosis

Unlocking the Code: When SpliceAI Falls Short in Variant Assessment

Utility of RNAseq in a cohort of undiagnosed congenital myopathy patients: A case series

Development of an affordable rapid human genome sequencing assay using long read PromethiON 2

A validation study using droplet digital PCR to identify copy number changes at complement factor H related gene regions

Variant +7/-10 copy number alterations and their association with pathological features and prognosis in patients with Glioblastoma

Myotonic dystrophy type 1 genetic testing in over 30,000 patients: Does size matter as patients get older?

Bleeding Complications in Pregnant Carriers of Factor IX and Factor XI Ascertained Through Carrier Screening

High-Yield Diagnostic Testing of FGF14 Repeat Expansion in Cerebellar Ataxia Across the North American Population

Mosaic X-Ring Chromosomes (45,X/46,X,r(X)) In Turner Syndrome (TS): A Case Series Highlighting 42 Years of Experience in a Single-Institution

Genetic Counselor Involvement Increases the Uptake and Success of Familial Studies in Variant Re-classification for Disorders of Hemostasis

Performing long-read sequencing from dried blood spot cards

Title: Improved diagnostic paradigm using Optical Genome Mapping (OGM) for cytogenomic testing for recurrent pregnancy loss and infertility.

Structural Variants Identified by Short-read Genome Sequencing Solves Missing Heritability in Retinal Dystrophies

Detection of variant parent-of-origin in diverse hereditary cancer syndromes using only the proband's blood sample

A comprehensive genotyping study in Mexican patients with Fanconi anemia identified reported, novel, and founder pathogenic variants.

Functional Analysis of X-linked Dyskeratosis Congenita Gene (DKC1) Showed Altered Nucleolar Localization and Post-Translational Modification.

JAK2 Exon 12-15, CALR and MPL Essential MPN NGS Panel

Updates on phenotypic spectrum and genotype-phenotype correlation of WDFY3-related syndrome

Characterization of Epstein-Barr Virus-associated smooth muscle tumor in an immunocompromised patient

Functional Genomic Studies Resolve an OTUD6B Deep Intronic Variant Causing Isoform Imbalance

Genome Sequencing defines the breakpoints of a TP53 promoter region deletion required for the purpose of Preimplantation Genetic Testing.

Kagami-Ogata syndrome due to uniparental isodisomy 14 and a small supernumerary marker chromosome

Single Gene Deletion of FGF3 in a Patient with Features of 11q13 Microdeletion Syndrome

PMP22 single exon deletion in a proband with hematologic malignancy and family history of Charcot-Marie-Tooth disease

A Collaborative Model Integrating Clinical Genetics and Molecular Pathology for Tumor/Normal Paired Whole Exome Sequencing Testing

New Artificial Intelligence-based computer-aided chromosome analysis and karyotyping - a pilot evaluation

Commercial Cystic Fibrosis Carrier Screening Tests and Coverage of the ACMG 100 Recommended Variants

Four Cases of unbalanced (Xq28 / Yq12):autosome translocation identified by chromosomal microarray analysis

Gene Variant Spectrum in Probands with Familial Exudative Vitreoretinopathy

Interrogating the Source: An Investigation of the Impact of Founder Variants on Residual Risk in Carrier Screening

Deciphering the Collagen Code: Navigating Variant Curation Complexities in Skeletal Disorders

Evolving from case counts to case-controls data: Updated PS4 recommendations from ClinGen's Cardiomyopathy Variant Curation Expert Panel

Biallelic variants in BECN1 are associated with a complex neurodevelopmental syndrome

Ultrarapid Whole Genome Sequencing Facilitates Early Definitive Diagnosis of Rare Genetic Disorders

Segregation outcomes of embryos undergoing preimplantation genetic testing for structural rearrangements (PGT-SR) in the setting of a familial reciprocal translocation

Carrier Screening with the ACMG 113: An Early Look and New Insights

Phenotype expansion or multilocus variants? Additional molecular findings in patients with well-known chromosomal disorders

Comparative analysis of a targeted pharmacogenomics array panel and genome sequencing in a neonate on extracorporeal membrane oxygenation

Identification and Functional Characterization of Novel and Ultra-rare MC1R Variants in Indian Population

Assessing the variant landscape in patients: An emerging partnership between biopharmaceutical companies and commercial laboratories.

Characterization of Usher syndrome cell line genotypes and investigation of novel microRNA biomarkers using microRNA microarray and droplet digital PCR

Variant Classification Discrepancies in the ACADVL Gene

Performing NGS Testing for Myeloid Malignancies in an Academic Medical Center Improves Turnaround Time and Cost

Classification of TP53 Non-Synonymous Sequence Variants Using Structural and Molecular Dynamic Simulation Analyses.

Integration of Protein Stability and Structural Context Scores Improves Bioinformatics Predictions for BRCA1 and TP53 Gene Variants

Elevating Pharmacogenomics: A Tailored In-House Solution for Empowering Accurate Clinical Decision Support

Identification of an intronic Alu insertion in the SYNE1 gene associated with autosomal recessive spinocerebellar ataxia type 8

Novel combined molecular diagnosis of rare digynic triploidy in preterm neonates

Case Report: Unraveling a Complex Chromosomal Rearrangement Case Using Optical Genome Mapping

Uncertainty in Interpretation of GAA Variants Detected Through Newborn Screening without Clinical Manifestation of Pompe Disease

Case Presentation: Co-segregation of a Rare GLA Variant of Uncertain Significance within 2 Multiplex Families Facilitates Variant Reclassification to Pathogenic

Prenatal diagnosis and postnatal clinical course of a fetus with low-level mosaic trisomy 17q

A Streamlined Testing of Mosaic Maternal Isodicentric Supernumerary Chromosome 15q11.2q13 [idic(15)]

Identification of a novel pathogenic variant in SERPINH1 associated with a presentation of osteogenesis imperfecta: Case Study

Heterozygous Deletion of Valine at Position 2321 of RYR2 in Two Siblings with Sudden Cardiac Death

Novel Presentation of Dextrocardia in TGIF1--related Holoprosencephaly

Mosaic Monosomy/Partial Trisomy 13 Resulting from an Unstable Ring Chromosome in A Child with Multiple Congenital Anomalies and Developmental Delay

Pathogenic ZIC2 Polyalanine Expansion Detected by Exome Sequencing in a Family with Multi-Generation Holoprosencephaly

Whole exome sequencing enables the correct diagnosis of Frank-Ter Haar syndrome in a Saudi family.

ChIP-DIP: A Highly Multiplexed Method for Mapping DNA-Associated Proteins to Study the Epigenomic Landscape

Improved Interpretation of PHOX2B Missense Variants for Diagnosis of Congenital Central Hypoventilation Syndrome (CCHS) Using In Silico Prediction Algorithms

Additional Evidence Supporting and Expanding the Phenotype Associated with MED12L Loss-of-Function Variants

Clinical laboratory quality system enhancement addressing acquired loss of chromosome Y

Self Reported vs. Genetic Ancestry from the GENCOV COVID-19 Genomic Sequencing Study

Phenome-wide association study (PheWAS) for the Canadian HostSeq Biobank

PMS2 in Somatic Oncology Testing - Real or Pseudogene interference?

A Novel Framework for Use of the PP1/BS4 Co-segregation and PP4 Phenotype Specificity Criteria for Sequence Variant Pathogenicity Classification

Estimating the prevalence of de novo monogenic disorders from gnomAD database

Genome Screening of Newborns: Sequencing is Easy, Assessing the Clinical Utility of Genomic Findings Uncovered in Asymptomatic Children is Challenging

Analyzing Performance of the Twist Exome with CNV Backbone at Various Probe Densities Leveraging Golden Helix VS-CNV

Real-world Implications of New Population Genomic Datasets for Clinical Variant Interpretation

The Landscape of Clinical Geneticists' Perspectives and Practices in India

Analytical Validation of a Comprehensive Targeted DNA Sequencing Panel for Hematologic Malignancies

SMN1 deletion and silent carrier screening for Spinal Muscular Atrophy

Single cell RNA-Seq in zebrafish foxe3 crispants shows significant dysregulation of cdon

Computational Tool Performance Across BRCA1: A Case-Control Informed Analysis

Low- Level Large Deletions in Mitochondria Genomes: A Potential Diagnosis of Mitochondrial Diseases

Identification of remarkable Y chromosome structural abnormalities and their link with various clinical presentations

A Unique Presentation of Triple X Syndrome with Four Copies of SHOX and Additional Low-Level Aneuploidy Mosaicism

Molecular profile and associated prognosis in systemic mastocytosis with an associated hematologic neoplasm-a case report

Genome sequencing (GS) in deceased neonate revealed loss-of-function MECOM variant highlighting clinical utility of GS as first-tier testing

Rare Disease Diagnostics using RNA-Seq: How an Investigational Transcriptomic Test Helped Conclude a 12-Year Diagnostic Odyssey

A de novo interstitial 19q13.12q13.32 duplication: report of a novel patient and literature review

Identification of Multiple Diagnoses in Pediatric Patients through Genome Sequencing

Development of Comprehensive Gene-/Disease-Specific Analysis and Knowledgebase to Enhance the Efficiency and Accuracy of Sequence Variant Interpretation and Clinical Reporting.

TERT Gene Promoter Region Mutation Analysis in Glioma Using Multiplex SNaPshot Method

Prenatal Diagnostic Genetic Testing in 2023: The Experience of a Medical Center-Affiliated Cytogenetics Laboratory

Comparative Analysis of DNA Variant Classifications Between the GENCOV COVID-19 Genome Study and the ClinVar Database

Hemoglobin S Coinheritance with Unusual Clinically Significant Beta Globin Variants

Structural Variant Analysis Unveils Loss-of-Function Promoter Deletion in Candidate Gene WDR44

Constitutional Mosaic Pericentromeric Trisomy 8 in a Female Patient with Aplastic Anemia

Prenatal phenotype and female congenital genital malformation caused by a novel KDM6A mutation in a three-generation pedigree

Novel PIGA-related disorder gene variant: Whole exome sequencing, postmortem sample analysis, and updated variant classification solves 20+ year diagnostic odyssey

A Recurrent Partial Trisomy 9 and 18 Chromosome in Siblings Resulting from 3:1 Meiotic Segregation of a Maternal Balanced Translocation

DMD or not DMD? Clinical Genome Sequencing in the Interpretation of Complex Copy Number Gains

Brothers concordant for adverse phenotype and Primrose syndrome apparently by parental gonadal mosaicism for ZBTB20 variant

Assessing Stability of Frozen Samples for Bionano Optical Single DNA Mapping for Diagnosis of Facioscapulohumeral Muscular Dystrophy Type 1

Uncovering hidden complex structural mechanisms: Conventional karyotype as a complement to chromosomal microarray

Comparative Analysis of Ion Torrent Sequencing Platforms: Unveiling Enhanced Performance and Precision with the GenexusTM integrated sequencer in Clinical Applications

High-fidelity Whole Genome Sequencing of FFPE Tumor-Derived Nucleic Acids stored at Ambient Temperature

Genome wide, high-throughput, high-resolution structural variation detection at low variant allele fraction for oncology samples

Novel insights into the pleiotropic health effects of growth differentiation factor 11 gained from genome-wide association studies in population biobanks

Duplication of 12q24.11-q24.31 in a patient with Noonan-like features

A Newly Created Database to Improve the Process of Variant Reclassification for a University-based Hospital Laboratory

Clinical Validation of Transcriptome Analysis for the diagnosis of Mendelian Disorders

Challenges in Interpretation of RNA-Seq Data Limit Variant Reclassification

It's About Time: How Key Genes Linked With Post-Traumatic Stress Disorder Evolve

Additional Significant Findings in Individuals with Ashkenazi Jewish Founder Variants

2q22.1q22.3 microdeletion - a case report and literature review

Novel SYCP2 Variants in Chinese Patients Further Define the Relationship between SYCP2 and Autosomal Dominant Oligoasthenozoospermia

Monogenic etiologies of persistent human papillomavirus infections: a comprehensive systematic review

Clinical Utility of the 2021 ACMG Gene Tiers in Expanded Carrier Screening

A Clinical Laboratory Experience with a 787-gene Carrier Screening Panel: Comparing Tier 3 and Tier 4 Outcomes

Impact of Prenatal Genetic Diagnosis on Pregnancy Termination: Experience from a Single Center

Calculating Maternal Polygenic Risk Scores from Prenatal Screening by cell-free DNA Data

Short-read haplotype-assisted genotyping for prenatal screening of monogenic disorders

Utility of Genetic Evaluation of Congenital Posterior Fossa Anomalies

RNA Sequencing Improves Assessment of Variants of Uncertain Significance From Fetal Genome and Exome Sequencing

Decoding parental reporting preferences from genome sequencing in the presence or absence of a fetal ultrasound phenotype

A combined Bayesian inference and machine-learning approach for prenatal screening by cell free DNA of monogenic disorders

Genetics of Prenatally Diagnosed Micro/Anophthalmia

Clinical Utility of Prenatal Exome Sequencing: Insights From a 10-year Cohort

Trio-whole exome and whole genome sequencing in fetal central nervous system anomalies

Low fetal fraction and low PAPP-A - one and the same?

Incidental detection of maternal cancer in prenatal cell-free DNA screening: Clinical laboratory experience and reporting of Multiple Structural Variants

Optimal Amniotic Fluid Volume Required for Direct Chromosomal Microarray Analysis.

Fetus with Cole-Carpenter Type 2 Presenting with Novel Neonatal Lethal Skeletal Dysplasia

Diagnosis of Au Kline Syndrome in a Fetus with Lower Urinary Tract Obstruction: Case Report and Literature Review

Maternally Inherited 11p15 Duplication involving only part of the ICR1 H19/IGF2 domain: Unraveling Mild Russell-Silver Syndrome Phenotype

Autosomal recessive cutis laxa type 1B in two successive pregnancies due to a novel homozygous EFEMP2 variant

Severely Elevated Bile Acids in Pregnancy and No-Call Result on Non-Invasive Prenatal Screening

Congenital Brain Malformations in TPK1-related Disorder - A Novel Severe Phenotype

Utility and Diagnostic Yield of Prenatal Skeletal Dysplasia Panel Testing

Improving peripartum health is an unappreciated advantage of prenatal genome sequencing

Prenatal Whole Exome Sequencing: Diagnostic Yield, Syndromic Landscape, and Incidence and Uptake of Secondary Findings

Validation of low-pass genome sequencing for prenatal diagnosis

Two Fetuses with Hereditary Hemorrhagic Telangiectasia Presenting with Rare Finding of Arteriovenous Malformations

Prenatal and Perinatal Features of a Type 2 Collagenopathy and COL2A1 Variant

Milroy Disease Presenting as Hydrops Fetalis: A Case Series

Utility of Whole Exome Sequencing in Desperate Prenatal Patients

Not Through with 22q: Case series of false negative cfDNA results and the importance of a priori risk on NPV

The ADGRA2 Gene is Associated with Multiple Fetal Brain Anomalies in Humans

Novel Markers of Pyruvate Dehydrogenase Complex Deficiency on Fetal Brain MRI

Yield of exome sequencing in congenital brain malformations identified on fetal MRI

Effectiveness of expanded carrier screening and prenatal ultrasound in identifying disorders among consanguineous couples

Amniotic fluid fetal DNA concentration is higher in females and varies with gestational age

Pre- and post-implementation of protocol for genetics evaluation for intrauterine fetal demise at Texas Children's Hospital

Impact of the COVID-19 Pandemic on Prenatal Genetic Screening Test Acceptance in Western North Carolina

Effectiveness of expanded prenatal carrier screening among consanguineous couples of Afghan descent

Prenatal Diagnosis of a Novel Biallelic ARFGEF1-Related Disorder Due to Uniparental Isodisomy: a Case Report

A Likely Pathogenic Variant of PBX1: Abnormal renal morphology and multiple cardiac anomalies identified by fetal ultrasound

Prenatal Diagnosis of GATA6-Related Disorder in a Maternal-Fetal Dyad: The value of prenatal diagnosis in complex decision-making

Experiences with an Adult Reproductive Clinical Genetics & Genomics Clinic: Insights and Opportunities

Non-mosaic Trisomy 9 - prenatal and fetal autopsy findings with further delineation of the clinical phenotype

Abortion preferences of patients with abnormal prenatal genetic diagnosis in an access-restricted state

Trisomy 22 with 80% Mosaicism: A Case Report

Cautionary Tale on Preconception Counseling and Genetic Testing in a Case of Non-Ketotic Hyperglycinemia (NKH) in Dichorionic Diamniotic Twins

Prenatal diagnosis of atypical Holt-Oram syndrome caused by a novel inherited intragenic TBX5 duplication: a rare mechanism with variable expressivity

Rare Clinical Gene Variant of GBE1: Glycogen Storage Disease IV

Prenatal diagnosis of maternal uniparental disomy of chromosome 20: A case report and review of the literature

A Retrospective Analysis of Pregnancy Outcome and Obstetric Care in Individuals with Genetic Conditions Compared to Controls

Diagnosis and management of pregnant people with inborn errors of metabolism in an adult reproductive genetics and genomics clinic

Case Report: Incidental Diagnosis of Lynch Syndrome by Prenatal Microarray

Prenatally Diagnosed Ring Chromosome 18: A Case Report

Multiple Fetal Anomalies Suggest a Role for CDK20 in Human Ciliopathies

Experiences of Black Pregnant People Offered Prenatal Diagnosis in the Setting of Fetal Anomalies: A Qualitative Study

Cases of survivorship: prenatal counseling for double heterozygosity in skeletal dysplasia

Prenatal Diagnosis of Tetrasomy 21: Case Reports

A new fetal sonographic characteristics of Baraitser–Winter Cerebrofrontofacial syndrome with ACTB mutation: pulmonary stenosis

Multivariate Symptom Modeling and Automated Phenotype Expansion Doubles the Penetrance of Loss-of-Function Variants in a Population-scale Cohort

Data from electronic healthcare records expands our understanding of X-linked genetic diseases

Genome-wide Resolution of Highly Homologous Genes Using Long-read PacBio HiFi Sequencing

Place Hereditary Angioedema in the Radar of Pediatricians Through an Innovative Education Program and Measure Impact with Real World Evidence

Long-read sequencing resolves CYP21A2 alleles in Congenital Adrenal Hyperplasia

Navigating genetic risk: Mapping variant's probability of occurring de novo and inferring their effect sizes on neurodevelopmental symptoms

Insights and Strategies for Inclusive Adolescent and Young Adult Participation in Genetics Research

GREGoR: increasing rare disease diagnosis using emerging technologies and data sharing

GENYSIS: a novel core facility for clinical evaluation of research genomic sequence

Evaluating HLA allele-disease associations in ClinGen: Development of a new curation tool

The Greenwood Genetic Center's approach to developing the future genetics workforce

GenIDA, an international participatory database to better characterise comorbidities of genetic forms of intellectual disability: Novel findings of DDX3X syndrome

Comparative medical genetics to facilitate the interpretation of rare missense variation

Detection and quantification of multiple deletions in mitochondria and heteroplasmy levels using PacBio long read sequencing.

Positive allosteric modulation in treatment of GRIN1 gene related neurodevelopmental disorders: promises and challenges

Discovering phenotype-gene correlations using Variant WorkBench

A novel cardiac genetic knowledge scale: Development and evaluation of face validity and concept validity

A Genetic Counselors Watchlist: Framework for Gene Discovery

A Framework and Implementation of the Association of Professors of Human and Medical Genetics Updated Core Competencies for Medical School

DNA Methylation Profiling in Kabuki Syndrome: Steps Towards Improved Classification of Variants of Uncertain Significance

Spectrum of short tandem repeats in Taiwanese population

A curated research catalogue of structural variation detected by optical genome mapping

Advantages of long-read sequencing in clinical genomics: A pilot study on ataxia patients

Recruitment, Consent and DNA Sample Acquisition in a U.S. Precision Health Cohort During the COVID-19 Pandemic

Unified Comprehensive Analysis of NGS and Optical Genome Mapping Data for Constitutional Applications Using Bionano VIATM Software

Development of a Logic Model to Inform a Measurement Strategy for a Provincial Genetics Program: Approach and Lessons Learned

Improvement of structural variant filtering using racial-specific reference genomes

HemaSure-OMXP: A non-toxic venous whole blood collection device enabling the 14-day room temperature stabilization of cell-free DNA.

The ClinGenRecs Web Portal: Streamlining Access to Medical Genetics Resources and Tools

How clinical trial-inclusion criteria are failing Phenylketonuria patients and risking exhaustion of the eligible patient population.

Novel Structural Variant in PDGFB-associated with Ectopic Intracerebral Calcifications

iSWABTM-DNA: A long-term buccal sample collection device that preserves high-quality DNA at room temperature and challenges transportation conditions.

Accelerated Optical Genome Mapping Analysis with Stratys Compute and Guided Assembly

Successful (and Unsuccessful) Recruitment Approaches and Participant Loss in a Down Syndrome Survey

Optimizing RNA Isolation Methods for Gene Expression Detection and Generation of Quality Transcriptome Sequences from FFPE Cardiac Tissue

Racial, Ethnic, & Socioeconomic Disparities in General Genetics Evaluation & Testing in the Adult Population

Motivations for Cascade Genetic Testing and Reactions to Results for Select Adult-Onset Conditions in a Pediatric Genomic Results Study

Traceback testing for ovarian cancer: implementer and participant perspectives

Perceptions of Family Health History in an East Baltimore Community

Medical genetics and genomics residents' perceptions of their gaps in knowledge regarding the clinical intersections of race and racism.

Optimism and pessimism about genome sequencing in pediatric health care: Preliminary findings in the BabySeq Project

Reframing the Narrative on Incompatible With Life in Trisomy 18 & 13

A Health Systems Framework to Advance Equity in Medical Genetics Policy and Practice

Newborn Screening for Pompe Disease in South Florida: The Clinical Experience

How to conduct equitable genetics research to include underserved populations: a systematic review of best practices.

Colombian Pacific genetics initiative: a project for the diagnosis and research of genetics rare disease.

Employees' views and healthcare utilization following employer-sponsored pharmacogenomic testing at a large US healthcare system

Rare Disease Narratives on Social Media

Exploring the impact of secondary findings in a cohort of patients and families receiving genome-wide sequencing

'I worry I don't have control': The psychosocial impacts of living with a hereditary cancer syndrome

How Many Lost Diagnoses? Addressing Inequitable Access to Genomic Testing for Rare Diseases in Rural Populations

Building an Equitable Network to Study Genetic Risk of Severe Acute Malnutrition in Multiple African Populations

Racial Disparity in the Diagnosis of Mitochondrial Disease

Genetic Insight, Social Impact: Transforming Care through Sotos Syndrome Diagnosis

Hospitalization of patients with organic acidemias: clinical characteristics and economic evaluation

'If you look for a problem, you'll find one': A qualitative study to understand why parents/adult patients decline secondary findings

Parental Perspectives and Experiences on the Implications of Expanded and Universal Newborn Screening

Home-Based Call: Description of the Sleep Impacts on Geneticists and Metabolists and Creation of RareCap, a Workforce Support Innovation

Effects of Social Determinants of Health on Diagnosis of Neurofibromatosis Type 1 within the All of Us Research Program

Understanding the Advantages of Translating Educational Materials for the Clinical Genome Resource

Federal Legislation Related to the Genetics Service Delivery System: 2023 Trends

Facilitating return of genetic research results from a biobank repository: participant uptake and utilization of digital interventions

Revealing the hidden costs: Exploring the financial toxicity of hereditary cancer syndromes

The Long and Winding Road of Biomarker Legislation

Connecting Patient Experience Literature to Clinical Practice: What Individuals and Parents Desire in Delivering the Diagnosis of Sex Chromosome Aneuploidy

Knowledge, attitudes, and perceptions of pharmacogenomics among low-income residents of central Indiana

A focus group interview study toward developing a press release guide unique to genomic issues

A Community-Based Approach to the Reporting of Secondary Findings in Indigenous Communities in Canada.

Evaluating Social Influences on Blood Phenylalanine Levels in Phenylketonuria Patients

A Children's Rights Framework for Personalized Medicine - Solutions to Healthcare Equity by Pivoting to Newborn Screening and Sequencing

Quality-of-Life and Healthcare Accessibility in Native American Myopathy: Study Design, Demographics, Diagnosis, and Chronic Health Conditions of Enrolled Subjects

'Should I let them know I have this?': Concerns and experiences of genetic discrimination amongst individuals with hereditary cancer syndromes

Disparities in Pediatric Exome Sequencing Outcomes

Limitations in access to genetic counseling training programs across the globe

Financial Resources for Cancer Genetic Testing: A Quality Improvement Project in a Detroit Metro Area Community Hospital

DEIJ Advancement in The Genomics Laboratory Through GC-Driven Advocacy:  A Process Improvement Review of Sex/Gender Verification SOPs

Comparing basic genetics knowledge between medical school students in Ecuador and students in the USA

Outcomes In 14 Live Births Resulting From Pegvaliase-Treated Pregnancies In Females With PKU (PDF) - 1

Clinical Laboratory Experience of Frataxin Quantification in Blood for the Diagnosis of Friedreich Ataxia (PDF) - 1

Clinical Laboratory Experience of Frataxin Quantification in Blood for the Diagnosis of Friedreich Ataxia (Audio) - 1

Urine Polyols for Diagnosis of Sorbitol Dehydrogenase (SORD) Deficiency-Related Peripheral Neuropathy (PDF) - 1

Atidarsagene Autotemcel (Hematopoietic Stem Cell-Gene Therapy) Preserves Cognitive and Motor Development in Metachromatic Leukodystrophy with up to 12 Years Follow-up (PDF) - 1

Evaluation and Application of a Genetic Risk Score for Uric Acid in Trans-Ancestry All of Us Cohort (Audio) - 1

Evaluation and Application of a Genetic Risk Score for Uric Acid in Trans-Ancestry All of Us Cohort (PDF) - 1

PP4 criteria specifications for proximal urea cycle disorders (PDF) - 1

PP4 criteria specifications for proximal urea cycle disorders (Audio) - 1

ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation Expert Panel: addressing the need for genetic variant classification in G6PD deficiency (PDF) - 1

ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation Expert Panel: addressing the need for genetic variant classification in G6PD deficiency (Audio) - 1

Insights from Georgia: Evaluating the Outcomes of Pompe Disease Newborn Screening (PDF) - 1

Genetic testing is incompletely sensitive for treatable inherited metabolic disorders (PDF) - 1

Genetic testing is incompletely sensitive for treatable inherited metabolic disorders (Audio) - 1

Variant Interpretation in Functionally Defined Patients: Lessons from methionine synthase deficiency (cblG) (PDF) - 1

Variant Interpretation in Functionally Defined Patients: Lessons from methionine synthase deficiency (cblG) (Audio) - 1

Pegtibatinase, an Investigational Enzyme Replacement Therapy for the Treatment of Classical Homocystinuria: Latest Findings from the COMPOSE Phase 1/2 Trial (PDF) - 1

A Long-term Disease Monitoring Program in Patients with Long-chain Fatty Acid Oxidation Disorders (PDF) - 1

Multiple Cases of Mosaic X-Linked Adrenoleukodystrophy in Males Identified Through Newborn Screening. (PDF) - 1

Connecting the Dots (and Neurons): Unraveling the Genetic Basis of Neurotransmitters Disorders in a Large Cohort of Brazilian Patients (PDF) - 1

Expanded Clinical Phenotype and the Role of Untargeted Metabolomics Analysis in Confirming the Diagnosis of Sodium-Dependent Multivitamin Transporter Deficiency (PDF) - 1

Phenotypes of adults with MPS1 pseudodeficiency variants: Questioning the need to report in newborns (PDF) - 1

Phenylketonuria Families and Researchers Evaluating Evidence (PHEFREE), the NIH Rare Disease Consortium for PKU (PDF) - 1

Expansion of the Phenotype of Thiamine Pyrophosphokinase Deficiency, A Treatable Cause of Leigh Disease, Includes Severe Neuronopathic Disease (PDF) - 1

Exploring Preanalytical Factors Impacting Plasma cell-free miRNA-451 Levels (PDF) - 1

Role of Muscle Biopsy and Exome Re-analysis in a Mystery Case of Lactic Acidosis (PDF) - 1

Characterization of a silent variant in a neonate with presentation of clinical variant classic galactosemia (PDF) - 1

The genetic spectrum of treatable inherited metabolic disorders identified in a large Middle Eastern biobank (PDF) - 1

Urine organic acid analysis as a potential screening test for aromatic L-amino acid decarboxylase deficiency: a retrospective investigation (PDF) - 1

Switching treatment to cipaglucosidase alfa+miglustat positively affects motor function and quality of life in patients with late-onset Pompe disease (PDF) - 1

Early Treatment with Alglucosidase Alfa is Associated with Improved Survival in Patients with Infantile-onset Pompe Disease: Data from Pompe Registry (PDF) - 1

Diverse Genetic Findings, Clinical Signs, and Newborn Screening History from a Long-Chain Fatty Acid Oxidation Disorders Gene Panel Sponsored Program (Audio) - 1

Late Onset Pompe Disease diagnoses missed by standard newborn screening procedure- The Indiana Experience (PDF) - 1

Decoding the Genetic Tapestry of Long Chain Fatty Acid Oxidation Disorders: Unveiling Novel Insights with a Dynamic Locus-Specific Gene Database (PDF) - 1

Decoding the Genetic Tapestry of Long Chain Fatty Acid Oxidation Disorders: Unveiling Novel Insights with a Dynamic Locus-Specific Gene Database (Audio) - 1

Cardiac Manifestations of Fabry Disease: Insights from a Clinic Population through Cardiac Magnetic Resonance Imaging (PDF) - 1

Reduction of Blood Phenylalanine in Participants Enrolled in OPAL, an Observational Study, Mirror Findings from the US-based PRISM Population (PDF) - 1

Metabolic profiling of cytosolic phosphoenolpyruvate carboxykinase (PEPCK1) deficiency associated with a novel homozygous missense variant in PCK1 (PDF) - 1

Identifying Inherited Genetic Markers Associated with Insomnia in Women with PolyCystic Ovary Syndrome (PCOS). (PDF) - 1

Design of a multi-center randomized phase 3 clinical trial (HURCULES) evaluating OTL-203 in MPS-IH versus allogeneic hematopoietic stem cell transplantation (Audio) - 1

Design of a multi-center randomized phase 3 clinical trial (HURCULES) evaluating OTL-203 in MPS-IH versus allogeneic hematopoietic stem cell transplantation (PDF) - 1

Trimethylaminuria: Investigations of Patient and Healthcare Provider Experiences (PDF) - 1

False Positive VLCAD Deficiency Screening: Proposed Effect of Testosterone (PDF) - 1

Prolonged Survival of a Patient with Combined Oxidative Phosphorylation Deficiency 11 secondary to biallelic variants in the RMND1 gene (PDF) - 1

Experiences with VLCADD in the Old Order Amish Community (PDF) - 1

Congenital Erythropoietic Porphyria - Disease Recurrence after Hematopoietic Stem Cell Transplantation (PDF) - 1

Unraveling the Complexity of the COG Complex: A Case Report on a Severe Phenotype Presentation of COG8-CDG (PDF) - 1

ACMG/AMP Variant Classification Framework in Arginase 1 Deficiency: Implications for Birth Prevalence Estimates and Diagnostics (PDF) - 1

Exit Interviews with Caregivers of Pediatric Patients with Classic Galactosemia Demonstrate the Meaningfulness of Changes in the ACTION-Galactosemia Kids Trial (PDF) - 1

Effects of liver-specific SHMT2 deletion on amino acid levels in mice (PDF) - 1

Exploring the Landscape of Phenylketonuria Education and Learning Needs of Genetics Trainees (PDF) - 1

Biallelic variants in POLG2 provides a rare molecular diagnosis in a patient with epilepsy and liver failure (PDF) - 1

Acute Liver Failure in a Toddler with Known Classic Galactosemia Due to Exposure to Lactaid Milk (PDF) - 1

When to look for Homocystinuria: preliminary results from HCU network America's patient surveys. (PDF) - 1

When to look for Homocystinuria: preliminary results from HCU network America's patient surveys. (Audio) - 1

Mitochondrial 3‐Hydroxy‐3‐Methylglutaryl‐CoA Synthase Deficiency Presenting with Involuntary Choreiform Movements and Dystonia (PDF) - 1

Heightened cerebral blood oxygenation changes during a cognitive task in Glut1 deficiency syndrome (G1D) (PDF) - 1

Design of the Prospective Study of the Clinical, Laboratory, and Dietary Determinates of Outcomes in Purine and Pyrimidine Metabolism Disorders (PDF) - 1

Design of the Prospective Study of the Clinical, Laboratory, and Dietary Determinates of Outcomes in Purine and Pyrimidine Metabolism Disorders (Audio) - 1

Late onset lipid storage myopathy caused by synergistic heterozygosity in ETFDH and TYMP genes (PDF) - 1

Response to Intravenous Citrate on a Patient on CKRT with Pyruvate Carboxylase Deficiency Type B (Severe Neonatal Form) (PDF) - 1

Inherited Genetic Markers for TemporoMandibular Disorder (TMD) Pain in PolyCystic Ovary Syndrome: Identifying Novel Therapeutic Targets. (PDF) - 1

A case of Ornithine Transcarbamylase Deficiency (PDF) - 1

A second-generation polygenic risk score (PRS) based on genetic ancestry improves breast cancer (BC) risk prediction for all ancestries (PDF) - 1

Returning genomic risk for hereditary breast and ovarian cancer: Clinical outcomes through standard of care versus research return of results (PDF) - 1

The Clinical Utility of Plasma Circulating Tumor DNA in the Diagnosis and Disease Surveillance in non-DLBCL non-Hodgkin's Lymphomas (PDF) - 1

TP53 Variant Characteristics and Phenotypes of 96 Families Evaluated at an Academic Medical Center (PDF) - 1

A Descriptive Study of the Phenotype in Individuals with a Pathogenic/Likely Pathogenic Intronic Variant Discovered by RNA Sequencing (PDF) - 1

Clinical and Genomic Spectrum of Lynch Syndrome in Thailand: A 7-year Experience of Cancer Genetic Testing at Siriraj Genomics (PDF) - 1

Impact of Genetic Test Result Recall on Adherence to Cancer Risk Management Recommendations (PDF) - 1

Utility of RNA analysis in genetic testing for hereditary cancer is highly similar between large cohorts from two independent laboratories. (PDF) - 1

Assessing the characteristics associated with carriers of the CHEK2 S428F variant (PDF) - 1

Novel high-throughput functional models for MLH1, MSH2, and PMS2 have high accuracy for clinical variant classification (PDF) - 1

Characterization of complex hereditary cancer associated germline variants with long read sequencing (PDF) - 1

HMGCR expression in BCC and adjacent non-malignant skin (PDF) - 1

Implementing Tumour-First Genetic Testing and Parent-of-Origin-Aware Genomic Analysis into the Diagnostic Pipeline for Hereditary Breast Cancer (PDF) - 1

Have We Considered Mosaicism? A Nearly Missed Molecular Diagnosis of von Hippel-Lindau (PDF) - 1

Identification of novel germline mutations and copy-number variations in patients with small cell lung cancer (PDF) - 1

A recurrent POT1 Germline variant associated with early onset malignant melanoma, desmoid tumor and other malignancies (PDF) - 1

Comprehensive Overview and Analysis of a Longstanding Pediatric Cancer Genetics Program (PDF) - 1

Enhancing minimally invasive minimal residual disease detection of multiple myeloma using cell-free DNA whole-genome sequencing (Audio) - 1

Enhancing minimally invasive minimal residual disease detection of multiple myeloma using cell-free DNA whole-genome sequencing (PDF) - 1

Increased Risk of Hematolymphoid Neoplasms in Individuals with Heterozygous Deletion of a Fanconi Anemia Gene (PDF) - 1

Prevalence and Penetrance of LZTR1 Pathogenic Variants: To Screen or Not to Screen? (PDF) - 1

Clinical Integration of Potential Germline Findings from a Tumour Testing Precision Medicine Program (PDF) - 1

Addition of new Variant Classes to the CIViC data model (PDF) - 1

Retrospective analysis of Comprehensive Cancer Panel sequencing at Fox Chase Cancer Center to evaluate the QIAGEN Clinical Insight Interpret database (PDF) - 1

A comprehensive approach to evaluate genetic abnormalities in plasma cell neoplasms using optical genome mapping and next-generation sequencing (PDF) - 1

POLE AND Brain Tumors- Case Report and Review of the Medical Literature (Audio) - 1

POLE AND Brain Tumors- Case Report and Review of the Medical Literature (PDF) - 1

Results from The Genetic Risk Analysis In Ovarian Cancer (GRACE) Study (PDF) - 1

Variants at Variance: An Assessment of Discordant Classifications and Phenotypes among TP53 Variants from the International LiFT UP Study (PDF) - 1

FISH Testing for cMET Amplification in 627 Molecularly Mutational Negative Patients with Non-Small Cell Lung Cancers: A Single Institution's Experience (PDF) - 1

Feasibility of Whole Body MRI and Multicancer Early Detection Testing in People at High Risk for Cancer Development (PDF) - 1

Molecular genetic biomarker analysis in brain tumors: Clinical and histopathological correlation of brain tumors with deletion of CDKN2A (9p21) (Audio) - 1

Molecular genetic biomarker analysis in brain tumors: Clinical and histopathological correlation of brain tumors with deletion of CDKN2A (9p21) (PDF) - 1

Recontacting Patients with a CHEK2 or ATM Pathogenic Variant for Updated NCCN Screening Guidelines: Report from an NCI-Designated Cancer Center (PDF) - 1

Validation of a clinical test for Genome-wide Homologous Recombination Deficiency Signatures in Solid Tumours (PDF) - 1

CHEK2 Variants Contributing to Hereditary Breast Cancer in Pakistan: A Tertiary Healthcare Centre Experience (PDF) - 1

Rare Within the Rare: A Case of Young-onset Meningioma Revealing the Diagnosis of BAP1-Tumor Predisposition Syndrome (PDF) - 1

BCR/ABL1 p230 Transcript in B-lymphoblastic Leukemia/Lymphoma: A Case Report (PDF) - 1

Confirmation of MYCN Amplification as the Cause for Retinoblastoma Eliminates Risks for RB Related Cancers in Proband and Family Members (PDF) - 1

Confirmation of MYCN Amplification as the Cause for Retinoblastoma Eliminates Risks for RB Related Cancers in Proband and Family Members (Audio) - 1

Systematic characterization of cancer ecosystem evolution (PDF) - 1

Operationalizing Structured Curated Scientific Literature (CIViC and Hypothesis) in Developing Gene-Specific Recommendations of the ClinGen VHL Variant Curation Expert Panel (PDF) - 1

A Single-Center Perspective on Glioma Epidemiology from 2018-2023 in the Middle East (PDF) - 1

Molecular Genetic Biomarkers: Chromosome 1 and 19 Abnormalities in Glioblastoma are Associated with Adverse Molecular Features and Overall Reduced Survival (PDF) - 1

Molecular Genetic Biomarkers: Chromosome 1 and 19 Abnormalities in Glioblastoma are Associated with Adverse Molecular Features and Overall Reduced Survival (Audio) - 1

Single-cell and spatial transcriptomics integrated with bulk RNA-seq, uncovers differences in bidirectional tumor-macrophage crosstalk in IDHwt and IDHmut gliomas (PDF) - 1

Myelodysplastic Syndrome (MDS) Detected by Germline Genetic Testing for Hereditary Cancer (PDF) - 1

Myelodysplastic Syndrome (MDS) Detected by Germline Genetic Testing for Hereditary Cancer (Audio) - 1

Identification of new fusion partners for ETV6 gene in hematologic malignancy by Next Generation Sequencing (NGS) (PDF) - 1

Case Report of APC Promoter 1B Deletion Associated with Classic FAP (PDF) - 1

Uncovering a Late Diagnosis: A Case Study on 22q11.2 Deletion in an Adult with Hypoparathyroidism (PDF) - 1

The Expression Profile of SLCO genes in Hepatocellular Carcinoma and Their Association with Clinical Outcomes (PDF) - 1

Double Trouble: Unraveling the Clinical Challenges of Dual Pathogenic Variant Carriers in Hereditary Cancer Predisposition Genes (PDF) - 1

Considering Cancer Risk in a Patient with CDH1-associated Blepharocheilodontic Syndrome (BCD1) (PDF) - 1

Identification of a Novel SDHB c.638T>G, p.M213R Likely Pathogenic Variant Accountable for Hereditary Paraganglioma-Pheochromocytoma Syndrome: A Case Report (PDF) - 1

A Clinical Algorithm to Guide Mainstreaming in Pediatric Oncology in Quebec (PDF) - 1

Two Cases of Angiocentric Glioma with MYB::QKI Fusion in a Single Institution (PDF) - 1

Comparison of Two Cases With the Same APC Genotype and Different Phenotypes (PDF) - 1

Novel genomic rearrangement leading to MYC over expression in the genomic setting of a pseudo-triple-hit diffuse large B-cell lymphoma (PDF) - 1

Retinoblastoma Discordant Monozygotic Twins and the Discovery of an Intron 15 RB1 Variant (Audio) - 1

Retinoblastoma Discordant Monozygotic Twins and the Discovery of an Intron 15 RB1 Variant (PDF) - 1

Donor-Cell Derived Hematological Neoplasm: Case Presentations of a Complex and Rare Event (PDF) - 1

Detection of pancreatic cancer in liquid biopsies using integrative fragmentomics (PDF) - 1

RETROSPECTIVE STUDY OF THE IMPACT OF ENDOPREDICT: EXPERIENCE FROM AN HOSPITAL CENTER (PDF) - 1

Where Epigenetics,Cancer and Hypoxia meet (PDF) - 1

Trio-Based Whole Exome Sequencing Reveals Novel Pathogenic Variants in TMPRSS7 Associated with Neurodevelopmental Disorders. (PDF) - 1

Phenotypic spectrum of individuals with SLC16A2 variants: Allan-Herndon-Dudley syndrome (PDF) - 1

Phenotypic spectrum of individuals with SLC16A2 variants: Allan-Herndon-Dudley syndrome (Audio) - 1

Persistence of Growth-Promoting Effects in Infants and Toddlers with Achondroplasia: Results from a Phase II Extension Study with Vosoritide (PDF) - 1

Expansion of the IRF2BPL-related disorder phenotype: initial updates from natural history study (PDF) - 1

CNS hemangioblastoma in pediatric patients with von Hippel-Lindau disease: When to start surveillance. (PDF) - 1

Neuronal Pathways by Differential Tractography Correlate with Clinical Outcomes Following Gene Therapy for GM1 Gangliosidosis: New Biomarker for Neurodegenerative Diseases (PDF) - 1

X-linked Alport Syndrome: From transcriptomic diagnosis to preclinical assessment of splice-switching oligonucleotide therapy using patient-derived cells and kidney organoids (PDF) - 1

Phenotypic Characterization and Genetic Interrogation of Patients with Cleidocranial Dysplasia (PDF) - 1

Engaging Participants in Data Sharing Enables Exploration of Dual Diagnoses (PDF) - 1

Evaluating the impact of gnomAD v4 on genetic prevalence estimates (PDF) - 1

Persistent Growth-Promoting Effects of Vosoritide in Children with Achondroplasia for up to 4 years: Update from Phase 3 Extension Study (PDF) - 1

A Rare Phenomenon: Double Trisomy Rescue Detected During Clinical SNP Microarray Testing (PDF) - 1

Persistent Growth-Promoting Effects of Vosoritide in Children with Achondroplasia is Accompanied by Improvement in Physical Aspects of Quality of Life (PDF) - 1

Efficacy, Safety and Tolerability of Chenodeoxycholic Acid In Adult Patients With Cerebrotendinous Xanthomatosis (RESTORE): A Randomized, Placebo-Controlled Phase 3 Study (PDF) - 1

Clinical Investigation of Bleeding Diatheses in Patients with Hermansky-Pudlak Syndrome (PDF) - 1

Persistence of Growth-Promoting Effects in Children with Achondroplasia Up to 7 Years: Update from Phase 2 Extension Study with Vosoritide (PDF) - 1

Paradigm shift in Occam's Razor and the need for genotype driven reverse phenotyping in rare diseases with complex phenotypes. (PDF) - 1

BeginNGS, an artificial intelligence-enabled genome sequencing system for newborn screening of 409 childhood genetic disorders. (PDF) - 1

Precision Medicine Approaches to Treatment for HNRNPH2 Mutations (PDF) - 1

Prevalence, Diagnostic Features, and Medical Outcomes of Females with Mosaic Turner Syndrome (45,X/47,XXX): Results from the InsighTS Registry (PDF) - 1

Exome sequencing vs chromosomal microarray for copy number variant detection (Audio) - 1

Exome sequencing vs chromosomal microarray for copy number variant detection (PDF) - 1

ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of the Validity of Hypertrophic Cardiomyopathy Genes (PDF) - 1

Enhancing understanding of SCN1A-related disorders through phenotype harmonization (PDF) - 1

Seizure severity across neurogenetic conditions in Simons Searchlight (Audio) - 1

Seizure severity across neurogenetic conditions in Simons Searchlight (PDF) - 1

Characterizing the Spectrum of CACNA1A-Related Disorders (PDF) - 1

The Second Known Case of CNP-related Hypomyelinating Leukodystrophy is Diagnosed by RNA-seq and Demonstrates an Abnormal Blood Methylation Profile (PDF) - 1

The ClinGen framework for naming monogenic diseases (PDF) - 1

Genomic disease contribution for unknown causes of infant mortality via genome sequencing of newborn dried blood spots and semiautomated interpretation (PDF) - 1

Willing but not (quite) ready: primary care provider perspectives on expanded genetic screening in children (PDF) - 1

Generating Advancements in Longitudinal Analysis in X&Y Chromosome Variations: Initial Data from the Multicenter GALAXY Clinical Data Registry and Biorepository (PDF) - 1

The eXtraordinarY Babies Study: Familial and perinatal predictors of 36-month language outcomes in prenatally diagnosed sex chromosome trisomy (PDF) - 1

Integration of Multidisciplinary Inclusion and Exclusion Criteria and Workflow Improves Access to Inpatient rGS and Changes Policies: Cleveland Clinic Example (PDF) - 1

A Genetics-First Approach to Identify Novel Variants of the Calcium Sensing Receptor Associated with Autosomal Dominant Hypocalcemia Type 1 (PDF) - 1

Changes of café-au-lait spots intensity by selumetinib in neurofibromatosis type I (PDF) - 1

Functional Assessment of IGF-1 and hGH as candidate treatments for Phelan-McDermid syndrome (PDF) - 1

Scalable Bayesian variant interpretation of Lynch syndrome genes using genotype and phenotype data for over 1.5M patients referred for testing (PDF) - 1

Challenges and Errors in Selecting the Most Appropriate Clinical Genetic Testing (PDF) - 1

MEK Inhibitor Therapy for Lymphatic Malformations: A Focused Approach in Patients with RASopathies (PDF) - 1

Snyder-Robinson Syndrome, an ultrarare polyamine multisystemic disorder presenting in a craniofacial clinic. (PDF) - 1

MUC1 gene Coding-VNTR Alignment-free Genotyping Approach Augmented ADTKD Diagnosis in a Cohort of 3735 Patients with Hereditary Kidney Diseases (PDF) - 1

Characterizing the phenotypic spectrum and estimated penetrance of families with pathogenic loss of function variants in the FLT4 gene (PDF) - 1

An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration (PDF) - 1

Developing an Approach to Screening Rare Genetic Diagnoses for Amenability to Bespoke Genetic Therapy Development (PDF) - 1

Feasibility of Providing Genetic Cancer Risk Information to Families of Patients who are Deceased: Experiences of the GRACE Study (PDF) - 1

Precision Animal Modeling and VUS-Resolution in a Novel AXIN2-Related Disorder (PDF) - 1

Understanding Patterns in Variants of Uncertain Significance to Facilitate Reclassification Using Machine-learning Based Variant Effect Predictors (PDF) - 1

20,000 Type 1 Diabetes (T1D) Exome Cohort In Ukraine (PDF) - 1

Longitudinal Neurodevelopmental and Medical Outcomes in Patients with Molecularly Confirmed RASopathies (PDF) - 1

The ClinGen Pharmacogenomics Working Group: Developing Frameworks for Evaluating Pharmacogenomic Gene Validity and Actionability (PDF) - 1

The ClinGen Pharmacogenomics Working Group: Developing Frameworks for Evaluating Pharmacogenomic Gene Validity and Actionability (Audio) - 1

Expanding the Phenotype Spectrum of Mendelian Diseases with a Genotype-First Approach (PDF) - 1

Expanding the Phenotype Spectrum of Mendelian Diseases with a Genotype-First Approach (Audio) - 1

Prevalence of and Risk Factors for Autism Spectrum Disorder in Individuals with Turner Syndrome: Results from the InsighTS Registry (PDF) - 1

Characterization of Neurocognitive Differences between Mosaic and Non-Mosaic Pediatric Turner Syndrome Patients (PDF) - 1

Hypermobility Clinic: Innovative Workflow Supporting Patients and Provider Wellness (PDF) - 1

Hypermobility Clinic: Innovative Workflow Supporting Patients and Provider Wellness (Audio) - 1

Genome and Exome Sequencing to Define Cardiac Phenotypes in Diagnostic Odyssey Cases (PDF) - 1

The Earliest Sign of Hypogonadotropic Hypogonadism: The Importance of Genetic Screening and Evaluation in Individuals with Microphallus (PDF) - 1

Consent frequency for genetic participation and receiving genetic results in White and non-White participants in SPARK (PDF) - 1

Drosophila Modelling Reclassifies VoUS in EED and PRC2 Members: Relevance for Clinical Interpretation and Rare Variant Burden Testing in Populations (PDF) - 1

Drosophila Modelling Reclassifies VoUS in EED and PRC2 Members: Relevance for Clinical Interpretation and Rare Variant Burden Testing in Populations (Audio) - 1

Old School and New Findings: Expansion and Delineation of the Dysmorphological Phenotype of Fanconi anemia (PDF) - 1

Deep Neurologic Phenotyping and Biomarker Development in Bohring-Opitz Syndrome using EEGs, Neurodevelopmental Assessments, and DNA Methylation Signature (PDF) - 1

Inpatient genetics consults for nondysmorphic children: characteristics, testing patterns and diagnostic yield. (PDF) - 1

SeqFirst mitigates race-based disparities in access to a precise genetic diagnosis in hospitalized neonates (PDF) - 1

Investigating the contribution of an intronic expansion repeat in FGF14 as a genetic cause of late-onset ataxia (PDF) - 1

Primary Care Precision Medicine Clinic: A Retrospective Analysis of Patient Trends, Testing Modalities, and Evolving Visit Models from 2019-2023 (Audio) - 1

Primary Care Precision Medicine Clinic: A Retrospective Analysis of Patient Trends, Testing Modalities, and Evolving Visit Models from 2019-2023 (PDF) - 1

Reclassification of Variants Following Renal Genetics Testing: Uncommon Yet Impactful for Diagnosis and Management (PDF) - 1

Insights into the Cardiac Phenotype in Kabuki Syndrome (PDF) - 1

Frequency of secondary findings and returning these results by self-reported race/ethnicity in SPARK (PDF) - 1

A Novel 13q31.3q32.3 Deletion Identified on Follow Up of an Inconclusive Prenatal Cell-Free DNA Screening for Trisomy 13 (PDF) - 1

Evaluating the impact of Omega-3 fatty acid supplementation on lipid profiles in adults with PPARG polymorphisms: randomized, double-blind, placebo-controlled trial (Audio) - 1

Evaluating the impact of Omega-3 fatty acid supplementation on lipid profiles in adults with PPARG polymorphisms: randomized, double-blind, placebo-controlled trial (PDF) - 1

Primary Care Electronic Medical Record Features Predicting Genetics Referrals (PDF) - 1

Primary Care Electronic Medical Record Features Predicting Genetics Referrals (Audio) - 1

Loss-of-function pathogenic variants in RBM42 cause a neurodevelopmental disorder by modulating RNA processing (PDF) - 1

Genetic landscape of primary mitochondrial disorders due to pathogenic variants in the mitochondrial and nuclear genome in childhood and adulthood (PDF) - 1

Phenotype-driven Algorithms for Enhanced Rare Disease Diagnostics (PDF) - 1

Insights into Diagnostic Yield and Novel Genetic Etiologies for Unilateral Polymicrogyria (PDF) - 1

Development of a single comprehensive genomic test based on long-read sequencing technology for the diagnosis of rare genetic disorders (PDF) - 1

Unexpected Recurrence of Vascular Ehlers-Danlos Syndrome in Sibships Due to Parental Mosaicism for COL3A1 Variants (PDF) - 1

Review of Genomic Test Orders for Pediatric Inpatients Receiving Exome and Genome Sequencing (PDF) - 1

Modifiers of Arterial Stenosis in Williams Syndrome: Using Genomics to Discover Drivers of Vessel-Specific Outcomes (PDF) - 1

Exploring heterogeneity among gene lists proposed for newborn sequencing (PDF) - 1

SeqFirst DDi: Early whole genome sequencing improves access to early precise genetic diagnosis for childen with developmental differences. (PDF) - 1

Impact of Electronic Health Record Clinical Decision Support on Adherence to Recommended Care in Patients with Hereditary Cancer Risk (Audio) - 1

Impact of Electronic Health Record Clinical Decision Support on Adherence to Recommended Care in Patients with Hereditary Cancer Risk (PDF) - 1

Phenotype and Genotype of Vietnamese Patients with X-linked Adrenoleukodystrophy (PDF) - 1

Abnormalities of TBX1 result in broad overlapping features of 22q11.2 deletion syndrome (PDF) - 1

SMAD6 Variants in Congenital Heart Disease (PDF) - 1

SMAD6 Variants in Congenital Heart Disease (Audio) - 1

Genetic, biochemical and clinical properties of GLA p.Asp313Tyr variant in a large German cohort (PDF) - 1

Genetic Testing Reveals Underascertainment of Monogenic Diabetes: An Update from the Rare and Atypical DIAbetes NeTwork (RADIANT) (PDF) - 1

Fibrodysplasia Ossificans Progressiva (FOP): The Patient Experience (PDF) - 1

TTN Truncating Variants Are Enriched in Cardiomyopathy/Arrhythmia and Neuromuscular Cases and M-Band Exon 358 Contributes to Primary Cardiomyopathy/Arrhythmia (PDF) - 1

Multiplex detection and quantification of neurological disease-associated repeat expansions using the PacBio Sequel IIe Platform (PDF) - 1

Using long-read sequencing for genomic and epigenomic analysis in patient-derived samples with somatic IDH1 mosaicism (PDF) - 1

Mosaic Autosomal Trisomies: A Karyotype Can Still Provide the Answer in Cases of Multiple Congenital Anomalies (PDF) - 1

MOLECULAR and CLINICAL ANALYSES of LRP1 and LRP2 VARIANTS in HUMAN CONGENITAL CARDIAC LEFT-SIDED LESIONS (PDF) - 1

Non-coding variants create an enhancer cluster that causes resistance to thyrotropin via long-range interactions with a microRNA promoter (PDF) - 1

Translational Advancements in Cockayne Syndrome: Preparing for an AAV-mediated hERCC8 Gene Therapy Trial (PDF) - 1

PKD1 Hypomorphic Variant in a Girl with Tuberous Sclerosis Complex and Polycystic Kidneys (PDF) - 1

CCN6 Copy Number Variant and Null Variant in Monozygous Twins with Progressive Pseudorheumatoid Dysplasia Revealed by WGS and Deep Phenotyping (PDF) - 1

Polycystic kidney disease and hepatic fibrosis: phenotypic expansion of Sotos Syndrome (PDF) - 1

Familial Russell-Silver Syndrome: Hypomethylation of Imprinting Center 1 in Two Siblings (PDF) - 1

Diagnosis of Cornelia de Lange Syndrome Through EPISign Whole Genome Methylation Assay: Findings from a Twin Case (PDF) - 1

From Variant of Uncertain Significance to Pathogenic Variant: Solving an 8-year Diagnostic Odyssey for SGMS2-related Bone Fragility Spectrum Disorder (PDF) - 1

Mosaic Trisomy 17 and Tetraploidy: A Case Report (PDF) - 1

Back to Basics: Diagnosis of Lesch-Nyhan Syndrome in a Female via Karyotype Analysis (PDF) - 1

Diagnostic Delays in ATP1A3 Disorders (PDF) - 1

Tissue Specific Pathogenic NIPBL Variant causing Cornelia de Lange Syndrome: a Call to Clinicians (PDF) - 1

TERC variant of uncertain significance associated with bone marrow failure and cirrhosis: exposing barriers to TERC classification (PDF) - 1

Oldest reported patients with RAB18 deficiency due to RAB3GAP1 gene mutations (PDF) - 1

Challenges in Establishing Best Practices for Gene Therapy Informed Consent for Hemophilia A/B (PDF) - 1

Expanded Phenotype & Pathogenesis of the Novel TFE3-Related Lysosomal Disorder (PDF) - 1

A genotype-first approach to identifying treatable genomic conditions in a large healthcare-based population (PDF) - 1

Gaps in the phenotype descriptions of ultra-rare genetic conditions: review and multi-center consensus reporting guidelines (PDF) - 1

Clarification of Variant Reporting for Homologous Genes Resolved Through Systematic Literature Review - ACMG SF Genes CALM1, CALM2, and CALM3 (PDF) - 1

Development of a scoring system to define lysosomal diseases (PDF) - 1

Exome Sequencing as a first-tier approach for rare forms of syndromic hearing loss. (PDF) - 1

Gain-of-Function CASR Variants, a Common Genetic Cause of Non-Surgical Hypoparathyroidism: Findings from a Sponsored Genetic Testing Program (PDF) - 1

MUCOLIPIDOSIS TYPE II: DATA FROM NORTHERN REFERAL PEDIATRIC CENTER IN VIETNAM (PDF) - 1

Sleep Correlates of Behavior Functioning in Cornelia de Lange Syndrome (PDF) - 1

What Are the Educational Needs of Caregivers of Children with Pierre Robin Sequence? (PDF) - 1

Healthcare Utilization in Pediatric Patients with Noonan Syndrome (PDF) - 1

Vestronidase Alfa for the treatment of mucopolysaccharidosis VII (MPS VII): Updated results from a longitudinal, multicenter disease monitoring program (DMP) (PDF) - 1

Assessing Urolithiasis Polygenic Risk Score Predictive Performance Across Black and White Population Groups: Insights from the All of Us Database (PDF) - 1

Genotype-Phenotype Associations in CASK Disorders: A Systematic Literature Review and Report of Three Cases (PDF) - 1

Whole genome sequencing for the diagnosis of undiagnosed global developmental delay (PDF) - 1

Correlating Clinical Findings with Genetic Testing Results in Patients with Concern for Connective Tissue Disorders - A Retrospective Chart Review (PDF) - 1

Trisomy 5p: Long Recognized, Rarely Published (PDF) - 1

The Essential Role of Genetic Testing in the Phenotypic Heterogeneity of Stargardt Disease (PDF) - 1

The Genetic Prevalence of Molybdenum Cofactor Deficiency as a Result of MOCS1 and MOCS2: A Genetics and Biostatistics Perspective (PDF) - 1

The Diagnostic Dilemma of Tissue Specific Mosaicism: A Case of Mosaic Supernumerary Chromosome 8 Detected via Buccal Sample (PDF) - 1

Novel biallelic missense variants in C2orf69 cause Combined Oxidative Phosphorylation Deficiency type 53 (COXPD53), associated with early-onset neurodegeneration and autoinflammation (Audio) - 1

Novel biallelic missense variants in C2orf69 cause Combined Oxidative Phosphorylation Deficiency type 53 (COXPD53), associated with early-onset neurodegeneration and autoinflammation (PDF) - 1

Discovery of a germline EZH2 variant reveals Weaver syndrome during sequencing of a B-cell acute lymphoblastic leukemia (B-ALL) (PDF) - 1

A Case of IPEX syndrome caused by a novel mutation in FOXP3 gene, and exhibited abnormal osseous findings (PDF) - 1

Expanding the phenotype of AGTR1-related autosomal recessive renal tubular dysgenesis: clinical considerations for neonatal care and genetic counseling (PDF) - 1

Monozygotic diamniotic twins homozygous for FAM20C missense variant causing lethal Raine syndrome. (PDF) - 1

Second individual with craniosynostosis and microdeletion including 14q22: premature fusion of cranial sutures and copy number variation (PDF) - 1

Severe Secretory Diarrhea Investigated by Genome Sequencing and RNA-seq Yields Ultrarare Diagnosis of Trichohepatoenteric Syndrome (THES) (PDF) - 1

Triple Diagnosis of X-Linked Chondrodysplasia Punctata, MECP2-Related Disorder, and Mosaic Jacobs syndrome in a Male Infant via Rapid WGS (PDF) - 1

Atypical Maternally Inherited CDKN1C Variant Causing IMAGe Syndrome in a Newborn (PDF) - 1

Germline NF1 variant and mosaic chromoanasynthesis of chromosome 12 (PDF) - 1

SATB1-Related Disorder Secondary to Chromothripsis (PDF) - 1

Clinical Overlap in Two Patients With 46,XY DSD and Limb Abnormalities with Identical Variant in Candidate Gene LHX9 (PDF) - 1

Double Somatic Mosaic for Pathogenic Variants in PIK3CA and GNAQ (PDF) - 1

Report of Individual Diagnosed with MPS type 1 Attenuated Form in Late Adulthood (PDF) - 1

Familial testing allows reclassification of CCDC22 variant in neonate with Ritscher-Schinzel syndrome-2 (PDF) - 1

Mosaic genome-wide paternal uniparental isodisomy and PAH pathogenic variant identified in an infant with macrosomia, omphalocele, hepatomegaly and cardiac anomalies. (PDF) - 1

Vitreoretinopathy is common in children with CTNNB1 mutations. (PDF) - 1

Neonatal encephalopathy: Identification of underlying genetic causes (PDF) - 1

Where are All the Kids With Fragile X Syndrome? A Retrospective Study of the Diagnostic Odyssey in Georgia (PDF) - 1

Contribution of rare variants in the development of familial premature coronary artery disease in a cohort of cardiac patients (PDF) - 1

Long Read Sequencing Analysis of 120 Samples with Known and Challenging-to-Detect Clinical Variants (PDF) - 1

Exploring Episignatures as a Potential Diagnostic Tool for Diabetic Embryopathy (PDF) - 1

Expanding the Prenatal Phenotype of a Rare Syndrome Due to Variants in DPH1 (PDF) - 1

Leveraging electronic health records (EHR) to identify patients with rare disease: An atypical case of Aromatic L-Amino Acid Decarboxylase Deficiency (PDF) - 1

More than an extra chromosome: unexpected multiple diagnoses in individuals with Down syndrome (PDF) - 1

Intersex/Differences of Sex Development (I/DSD) Traits: Exploring Their Association with 15% of Phenotypically Detailed Genetic Disorders (PDF) - 1

Expanding the Neuropsychological Phenotype of KAT6B Disorders: Overlapping features with KAT6A Syndrome (PDF) - 1

Decoding Genetic Orchestration: Understanding the Cellular and Molecular Mechanisms of the Hematopoietic Failure in Fanconi Anemia (Audio) - 1

Decoding Genetic Orchestration: Understanding the Cellular and Molecular Mechanisms of the Hematopoietic Failure in Fanconi Anemia (PDF) - 1

Population Prevalence of Sex Chromosome Trisomy Varies by Genetic Ancestry (PDF) - 1

Genetic diagnosis of isolated Café au Lait Spots through Whole Exome Sequencing (PDF) - 1

Evaluation of the feasibility, diagnostic yield, and utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international pilot study (PDF) - 1

Pioneering Integrated Hereditary Prostate Genetic Testing Service in a Physician Office Laboratory (PDF) - 1

The Scope of Incorporating Preemptive Pharmacogenomics Testing for Public Healthcare (PDF) - 1

NCOR2 is candidate gene for neurodevelopmental disorder including autism (PDF) - 1

Use of a DNA Methylation Signature for the Diagnosis of TET3-Related Beck-Fahrner Syndrome and Expansion of its Related Phenotype (PDF) - 1

Value of Early Evaluations with Comprehensive Genetic Testing in Congenital Heart Disease and Childhood Onset Heart Failure: Case Report (PDF) - 1

Novel Presentation of Costello Syndrome With Urinary Tract Involvement In Early Infancy. (PDF) - 1

A Novel STAG1 Variant Causing Developmental Delay, Failure to Thrive, Hypotonia, and Recurrent Infections (PDF) - 1

Novel Variants in the CACNA1B Gene: A Case Presentation of Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements (PDF) - 1

Phenotypic variability among three family members with RAD21 Cornelia de Lange Syndrome (PDF) - 1

Ironing out the BPAN phenotypic spectrum: a report of three new BPAN cases and review of the literature (Audio) - 1

Ironing out the BPAN phenotypic spectrum: a report of three new BPAN cases and review of the literature (PDF) - 1

Expanding the Phenotype of EIF3F-related Neurodevelopmental Disorder (PDF) - 1

When to Consider Genetic Testing in Infants with Hip Dysplasia (Audio) - 1

When to Consider Genetic Testing in Infants with Hip Dysplasia (PDF) - 1

Atypical Presentation of Vascular Ehlers-Danlos Syndrome (vEDS) (Audio) - 1

Atypical Presentation of Vascular Ehlers-Danlos Syndrome (vEDS) (PDF) - 1

Case report: A splice site variant in COL4A6 may cause recurrent stroke (PDF) - 1

Case report: A splice site variant in COL4A6 may cause recurrent stroke (PDF) - 2

An atypical presentation in a child with PTPN11 Noonan syndrome due to TRIO-related neurodevelopmental disorder (PDF) - 1

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant (PDF) - 1

Postnatal Progressive Craniosynostosis: An Unusual Presentation Leading to Cascade Diagnosis for Multiple Generations (PDF) - 1

CARDIOVASCULAR FEATURES IN ADULT INDIVIDUALS AFFECTED WITH TATTON-BROWN-RAHMAN SYNDROME (PDF) - 1

Congenital Disorder of Glycosylation Type IIa with a Novel Phenotype of Bilateral Congenital Glaucoma (PDF) - 1

Transcription factor HAND2 in syndromic congenital heart disease (PDF) - 1

A homozygous start-loss mutation in TERF1 causes a syndrome associated with long telomeres (PDF) - 1

A Novel WARS2 Variant Impacting Dimerization in Trans With a Recurrent Pathogenic Variant in a Child With Features of NEMMLAS (PDF) - 1

Multiomic Approach to Diagnosis, A Case Study in the Undiagnosed Diseases Program (PDF) - 1

Two Independent Molecular Diagnoses of Loeys-Dietz Syndrome in a Sibship and Their Children: A Case Report (PDF) - 1

Exome Sequencing Identifies Likely Pathogenic Variants in NF1, LMNA, and SDHC in Individual with Learning Disability and Multiple Congenital Anomalies (PDF) - 1

Ciliary analysis defines pathogenicity of novel WDR19 bi-allelic variants in patient with cranioectodermal dysplasia and mosaic chromosome 9p deletion (PDF) - 1

Distinct Clinical Presentations of Affected Siblings with Acute Intermittent Porphyria Caused by a Common Pathogenic Variant in HMBS (PDF) - 1

PIK3CA-Overgrowth in a Patient with Down Syndrome: Rare Coexistence and Its Management Implications (PDF) - 1

Psychosocial adjustment and distress in neonatal versus adolescent diagnosis of SRY-related gonadal dysgenesis: Two illustrative cases (PDF) - 1

Far from Futile: The Value of Perimortem Rapid Exome (PDF) - 1

Whole genome sequencing identifies biallelic variants in newly described EMC10-related neurodevelopmental disorder not detected by prior genetic testing (PDF) - 1

Whole genome sequencing identifies biallelic variants in newly described EMC10-related neurodevelopmental disorder not detected by prior genetic testing (Audio) - 1

Jaberi-Elahi syndrome caused by maternal UPD 6 resulting in homozygous variants from a heterozygous parent. (PDF) - 1

Less Than One in a Million: Double Homozygosity for F2 and F5 (PDF) - 1

Loss of Function Variants in ACTN2 in Pediatric Patients with Infantile-Onset Dilated Cardiomyopathy (PDF) - 1

Skeletal Anomalies in RAD21-Associated Cornelia de Lange Syndrome: Two Additional Cases (PDF) - 1

Renal Failure in an Infant with PAX2 Whole-Gene Duplication (PDF) - 1

Expanding the phenotype of an ultra-rare neurodevelopmental disorder associated with NACC1 (PDF) - 1

Agnostic analysis of transcriptome sequencing of patients with suspected Mendelian Diseases (PDF) - 1

Comparison of hEDS and HSD in a Pediatric Population (Audio) - 1

Comparison of hEDS and HSD in a Pediatric Population (PDF) - 1

Genetic testing for patients with neurodevelopmental disorders in the inpatient psychiatry setting may reduce hospital stays and improve behavioral outcomes (PDF) - 1

Genetic testing for patients with neurodevelopmental disorders in the inpatient psychiatry setting may reduce hospital stays and improve behavioral outcomes (Audio) - 1

The Importance of Genetics Consultation Prior to Testing for a Successful Rapid Genome Sequencing Program. (PDF) - 1

From Hypoplasia to Aplasia of the Trigeminal Nerve: A Recurring Feature in the Diganosis of Gomez-Lopez-Hernandez Syndrome (PDF) - 1

Automated Reanalysis of Clinical Genetic Test Results: High Variant Reclassification Rate (PDF) - 1

Rubinstein-Taybi syndrome-typical and atypical, Nemours experience and beyond (PDF) - 1

Overlapping Movement Disorder Phenotypes are a Hallmark of Leukoencephalopathy with Calcifications and Cysts (PDF) - 1

Clinical and Genetic Profiling of Cleidocranial Dysplasia: A Comprehensive Study of 28 Korean Patients (PDF) - 1

Uncovering the Clinical Spectrum of Citrin Deficiency in Korea: Insights from a Study of 30 Patients (PDF) - 1

Retrospective Analysis of Non-Ketotic Hyperglycinemia Patients in Central and Eastern Kentucky (PDF) - 1

Genotype-Phenotype characterization of channelopathies in pediatric patients at a high-complexity hospital in Cali, Colombia, from 2015-2023 (PDF) - 1

Mosaic Costello syndrome presenting with striking intermixed patches of scalp hair and linear epidermal nevi (PDF) - 1

Chromosomal 7p deletion associated with Saethre-Chotzen syndrome (PDF) - 1

A Novel Case of Coffin-Siris Syndrome due to Duplication in 6q25.3 (PDF) - 1

Mosaic copy gain of 16p with supernumerary chromosome formation: An emerging phenotype (PDF) - 1

Muenke Syndrome Associated with Juvenile Polyposis Syndrome (PDF) - 1

Kidney cysts: potential underrecognized phenotype of Coffin-Siris syndrome (PDF) - 1

Novel CYP19A1 variant in a Male with Overgrowth, Unilateral foot drop, and Nephrolithiasis: Expansion of Clinical Features in Aromatase Deficiency (PDF) - 1

Novel mutation in ZIC3 in a Peruvian family with variable phenotype VACTERL-H association (PDF) - 1

Acute Lymphocytic Leukemia in a Child with Beckwith Wiedemann Syndrome: Coincidence or related to loss of CDKN1C function? (PDF) - 1

Acquired Macrocephaly with Impaired Intellectual Development (MACID): First reported case of an affected child and parental mosaicism (PDF) - 1

Alternative Diagnoses of PHACES Syndrome with Overlapping Features (PDF) - 1

Third Patient with Biallelic Variants in SMAD6 with an Overlapping Phenotype: Delays, Dysmorphic Features, and Cardiovascular Problems (PDF) - 1

A novel variant causing BCAP31-related syndrome in a male incidentally found to have glutaric acidemia III (PDF) - 1

Case Study: Germline Chromoanagenesis Associated With Global Developmental Delay, Dysmorphic Features and Failure to Thrive (PDF) - 1

A Pediatric Patient with a Novel Duplication of 1q21.2 to 1q25.3: A Case Report (PDF) - 1

Biallelic variants of uncertain significance in a newborn with Generalized Arterial Calcification of Infancy (PDF) - 1

Expanding the Phenotype of Hyper-IgE Syndrome: Heterozygous VUS in IL6ST with Elevated Serum IgE and Isolated Abscesses (PDF) - 1

Proposing pathogenicity of an SGCE variant of unknown clinical significance in a 17-year-old with new onset dystonia (PDF) - 1

Use of Dextrose containing fluids and intralipids in a patient with KCNA1 related neuromyotonia (PDF) - 1

Rare mechanisms causing UPD(14)pat and UPD(14)mat (PDF) - 1

Presentation of Dual Molecular Diagnoses of Two Patients with Neurodevelopmental Disorder (PDF) - 1

Leptomeningeal Cavernomatosis and Non-Hemorrhagic Lacunar Strokes: An unusual phenotype for familial cerebral cavernous malformations (PDF) - 1

A novel nonsense variant in the DMBX1 gene associated with neurodevelopmental delay: A case report of three siblings. (Audio) - 1

A novel nonsense variant in the DMBX1 gene associated with neurodevelopmental delay: A case report of three siblings. (PDF) - 1

A novel nonsense variant in the DMBX1 gene associated with neurodevelopmental delay: A case report of three siblings. (Audio) - 2

A novel nonsense variant in the DMBX1 gene associated with neurodevelopmental delay: A case report of three siblings. (PDF) - 2

PACS2-related Developmental and Epileptic Encephalopathy: A Review of Molecular Mechanisms and Clinical Aspects of a Rare Genetic Disorder (PDF) - 1

Agenesis of olfactory apparatus due to intragenic deletion of SIN3A and MAN2C1 resulting in Witteveen-Kolk syndrome (PDF) - 1

Missense Variants in SRCAP; Expansion of Phenotypic Manifestations Associated with non-FHLS SRCAP-Related Neurodevelopmental Disorder (PDF) - 1

Noonan Syndrome Associated with a Homozygous Deep Intronic Variant in LZTR1 Gene Confirmed by RNA Sequencing (PDF) - 1

Kagami-Ogata Syndrome: The Indispensable Role of Clinical Assessment and Utilization of Advanced Molecular Technologies (PDF) - 1

Assessing and addressing the burden of VUSs within adult medical genetics practices (PDF) - 1

Rapid complement mediated TMA diagnosis and early intervention in a renal intensive care unit using Nanopore technology (PDF) - 1

Elevated Prevalence of ACMG Medically Actionable Variants in Women with Mayer-Rokitansky-Küster-Hauser Syndrome (PDF) - 1

Hallermann-Streiff syndrome - characteristic features and diagnostic overlap (PDF) - 1

Circadian and behavioral differences with Rai1 haploinsufficiency in the setting of hyperphagia-induced weight gain (PDF) - 1

A Case of Congenital Myasthenic Syndrome with AChR Deficiency due to Biallelic Variants in CHRNE Gene (PDF) - 1

A Rare Report of a Child with Mosaic Trisomy 4 (PDF) - 1

Terminal 7q Deletion: How Does Inferior Cerebellar Vermis Hypoplasia Translate to Pathology in a Clinical Setting? (PDF) - 1

Expanding the Phenotype of NAA10 Related Ogden Syndrome (PDF) - 1

Identification of de novo DNM1L mutation in Korean infancy presenting with failure to thrive, dicarboxylic aciduria and lactic acidosis (PDF) - 1

Role of Comprehensive Renal Genetic Testing in Diagnosing a RMND-1 Mitochondrial Disease in Two Adult Cases Exhibiting Variable Disease Phenotypes (PDF) - 1

Variants of Uncertain Significance in Genes Associated with Inherited Connective Tissue Disorders Pose Unique Challenges (PDF) - 1

Association Between Weiss-Kruszka Syndrome (WSKA) and Obesity (PDF) - 1

Multidisciplinary cooperation for perinatal management following the genetic diagnosis of ATP1A3-related neurological disorder. (Audio) - 1

Multidisciplinary cooperation for perinatal management following the genetic diagnosis of ATP1A3-related neurological disorder. (PDF) - 1

A Case of Homozygous LMNA c.991C>T (p.Arg331Trp) Laminopathy with Predominant Cardiomyopathy. (Audio) - 1

A Case of Homozygous LMNA c.991C>T (p.Arg331Trp) Laminopathy with Predominant Cardiomyopathy. (PDF) - 1

Vision and Enamel Anomalies in Jalili Syndrome: Case Study and Genetic Insights (PDF) - 1

An Alpha-mannosidosis journey to the diagnosis: A case report and literature review (PDF) - 1

Think Beyond a Unifying Diagnosis - A Case of Dual Diagnoses of Klinefelter Syndrome and DYNC1H1-related Disorder (Audio) - 1

Think Beyond a Unifying Diagnosis - A Case of Dual Diagnoses of Klinefelter Syndrome and DYNC1H1-related Disorder (PDF) - 1

Rapid genome sequencing and RNA analysis provides early diagnosis of Ritscher-Schinzel type 2 syndrome for infant with evolving phenotype (PDF) - 1

A heterozygous 287 kb deletion of the X chromosome in a Peruvian girl with Dystrophinopathy (PDF) - 1

Comorbidity of Two Uncommon Chromosomal Disorders: First Reported Case of 49,XXXXY and Cornelia de Lange Syndrome (PDF) - 1

The Conundrum of Cardiovascular Imaging and Genetic Testing in the Context of Nonspecific Connective Tissue Findings (PDF) - 1

The importance of genetic counseling for families with hyperinsulinism. (PDF) - 1

The diagnostic journey of Mexican patients with Verheij Syndrome (PDF) - 1

Schaaf-Yang Syndrome - A Rare Syndrome Resulting From a de novo Pathogenic Variant in MAGEL2 on 15q11 (Audio) - 1

Schaaf-Yang Syndrome - A Rare Syndrome Resulting From a de novo Pathogenic Variant in MAGEL2 on 15q11 (PDF) - 1

Novel SLC26A2 Variants in Two Adults with Autosomal Recessive Multiple Epiphyseal Dysplasia type 4, Informed by Genotype-Phenotype Correlation (PDF) - 1

Connecting Features in a Patient with Supernumerary Ring Chromosome 1 (PDF) - 1

Novel Familial Variants in the TDGS Gene Associated with Catel-Manske Syndrome and Distinct Phenotypes Between Male Siblings (PDF) - 1

Recurrent pulmonary hemorrhages as a presenting symptom of congenital dysfibrinogenemia in a hospital patient identified from rapid whole genome sequencing (PDF) - 1

SUSPECTED CYP26B1-RELATED DISORDER IN A MIXTEC PATIENT WITH CRANIOSYNOSTOSIS AND SKELETAL ANOMALIES: A CASE REPORT AND LITERATURE REVIEW (PDF) - 1

Rare case of double aneuploidy chromosomes 20q-21q, the importance of precision medicine in the new era (PDF) - 1

EXPANDING THE PHENOTYPE SEEN IN SPEG-RELATED CONGENITAL MYOPATHY (PDF) - 1

De novo Truncating Variants in ZNF865 - a Putative Cause of a Neurodevelopmental Disorder (Audio) - 1

De novo Truncating Variants in ZNF865 - a Putative Cause of a Neurodevelopmental Disorder (PDF) - 1

Epidemiological Assessment of Autosomal Recessive Founder Mutations in the Canadian Mennonite Population (PDF) - 1

Genetically-determined variants lead to to neuronal hyperexcitability and clinical psychosis/catatonia: case series. (PDF) - 1

Respiratory distress in the setting of a right diaphragmatic eventration in a newborn with a pathogenic FLNA gene variant (PDF) - 1

An Adult with Kagami-Ogata Syndrome Misdiagnosed as Freeman-Sheldon: The Importance of Genetics Follow-up (PDF) - 1

Novel and Very Rare Causative Variants in the Transglutaminase-1 Gene of Vietnamese Patients with Lamellar Ichthyosis (Audio) - 1

Novel and Very Rare Causative Variants in the Transglutaminase-1 Gene of Vietnamese Patients with Lamellar Ichthyosis (PDF) - 1

An atypical presentation of Williams syndrome in a patient with a co-occurring FOXP4 likely pathogenic variant: A case report (PDF) - 1

CEP78-Associated Cone-Rod Dystrophy and Hearing Loss Unveiled through Retinal Dystrophy Panel: Resolving Uncertainty in a Family with Inconclusive WES (PDF) - 1

A Novel Pathogenic Variant in NALCN Gene in a Newborn with CLIFAHDD Syndrome (PDF) - 1

Rapid genome sequencing detects complete paternal UPD6 leading to diagnosis of Transient Neonatal Diabetes Mellitus with prompt treatment and counseling (PDF) - 1

AGTPBP1-related Neurodevelopmental and Movement Disorder in a Child with Ataxia and Developmental Delays (PDF) - 1

Yet Another Neurodevelopmental Single Gene Disorder: G3BP1-Related Disorder (PDF) - 1

Decoding the GANAB Enigma: Novel Insights into Pediatric Cystic Kidney Disease (PDF) - 1

Decoding the GANAB Enigma: Novel Insights into Pediatric Cystic Kidney Disease (Audio) - 1

A Novel Candidate Gene for Syndromic Bone Marrow Failure: Haploinsufficiency of SETMAR in a Child with Severe Aplastic Anemia (PDF) - 1

An Atypical Presentation of 17q12 Recurrent Deletion Syndrome Resulting in the Misdiagnosis of Meckel-Gruber Syndrome: A Case Report (PDF) - 1

An Atypical Presentation of 17q12 Recurrent Deletion Syndrome Resulting in the Misdiagnosis of Meckel-Gruber Syndrome: A Case Report (PDF) - 2

Blepharophimosis-Intellectual Developmental Disorder Syndrome, First Reported Case in Hispanic population (PDF) - 1

Novel RET Variant in Two Unrelated Patients with Hirschsprung disease and Congenital Anomalies of Kidney and Urinary Tract (PDF) - 1

A Sotos syndrome case report: Describing the complex work-up following a variant of uncertain significance in the NSD1 gene (PDF) - 1

A novel SLC9A6 variant identified in an autistic boy with epilepsy- Christianson Syndrome (PDF) - 1

Comparing Parental Perspectives of Raising Children Affected with Inherited vs. De Novo Marfan Syndrome (PDF) - 1

Fidrisertib (IPN60130) for the Treatment of Fibrodysplasia Ossificans Progressiva: Methodology of the Randomized, Double-Blind, Placebo-Controlled Phase II FALKON Trial (PDF) - 1

Single Cell RNA-seq Analysis of Skin Tissue from Individuals with Hypermobile Ehlers-Danlos Syndrome (PDF) - 1

DIGENIC INHERITANCE OF PATHOGENIC VARIANTS IN DICER1AND CACNA1I CAN PRESENT AS GLOW SYNDROME (PDF) - 1

DIGENIC INHERITANCE OF PATHOGENIC VARIANTS IN DICER1AND CACNA1I CAN PRESENT AS GLOW SYNDROME (Audio) - 1

A 33-year-old male diagnosed with Pitt-Hopkins Syndrome: The Spectrum Broadens (PDF) - 1

A 33-year-old male diagnosed with Pitt-Hopkins Syndrome: The Spectrum Broadens (Audio) - 1

Double Heterozygous Variants in ACVRL1 and GDF2 causing Hereditary Hemorrhagic Telangiectasia and GDF2-Related Vascular Anomaly Syndrome (PDF) - 1

Double Heterozygous Variants in ACVRL1 and GDF2 causing Hereditary Hemorrhagic Telangiectasia and GDF2-Related Vascular Anomaly Syndrome (Audio) - 1

Deletion of exons 10 and 11 in FGFR2: mother and daughter with sagittal craniosynostosis and micrognathia. (PDF) - 1

Deletion of exons 10 and 11 in FGFR2: mother and daughter with sagittal craniosynostosis and micrognathia. (Audio) - 1

Milder Symptom Presentation of De Novo NARS1 Pathogenic Variant: A Case Report (PDF) - 1

Novel variant of unknown significance in RYR2 in a patient with suspected Catecholaminergic Polymorphic Ventricular Tachycardia: a case to reclassify (PDF) - 1

Patient with Galactosemia and Primary Ovarian Insufficiency Undergoes IVF with Oocyte Retrieval prior to Conceiving Spontaneously (PDF) - 1

EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder (PDF) - 1

A variant in KIF4A segregating with an X-linked ocular and neurodevelopmental phenotype in a multigenerational family (PDF) - 1

Expanding the Phenotype: Coarctation of the Aorta as a Novel Clincal Feature of Baraitser-Winter Syndrome (PDF) - 1

Potential founder effect in PPT1 in CLN1 disease in Mexican-Mestizo Population (PDF) - 1

Student Experiences and Reflections on Rotations with Co-Supervision (PDF) - 1

EEF2-related neurodevelopmental disorder is clinically recognizable (PDF) - 1

Novel variant in WARS2 GENE: Clinical evaluation and genotype-phenotype of a Parkinsonism neurodevelopmental disorder (PDF) - 1

Aplasia cutis congenita associated with trisomy 21, a unique presentation in a 5-month-old female (PDF) - 1

Neurodevelopmental Diagnoses in Oculocutaneous Albinism Type II (PDF) - 1

22q11DS with maternal mosaic nonoverlapping isodicentric 22q11 duplication (PDF) - 1

22q11DS with maternal mosaic nonoverlapping isodicentric 22q11 duplication (PDF) - 2

A Novel Inherited Frameshifting Variant in UBA2 Gene: A Case Study of Highly Variable Phenotype in a Family (PDF) - 1

Uptake of a Chatbot for Disclosure of Germline Genetic Test Results through a Universal Genetic Testing Program (PDF) - 1

Reconciling Medical Genetics Educational Competencies and Closing Gaps in Undergraduate Medical Education (PDF) - 1

Precision Child Health: Integrating a consultative Pharmacogenetics (PGx) program into Clinical Care at the Hospital for Sick Children (PDF) - 1

Secondary Findings Analysis in the Personalized Environment and Genes Study: Reduced Return in Disorders with Autosomal Recessive Inheritance Pattern (PDF) - 1

Marfan Syndrome Evaluation: Improving Access through an Alternative Care Delivery Model (PDF) - 1

Barriers and facilitators to implementing genomic medicine: A scoping review of the global landscape (PDF) - 1

Streamlining precision medicine: cancer predisposition germline testing in a large, integrated health system (PDF) - 1

The Clinician-reported Genetic testing Utility InDEx: A Revised Tool to Quantify Genome-wide Sequencing Utility in Neonatal Intensive Care (C-GUIDE NICU) (PDF) - 1

Parent and healthcare personnel perspectives on challenges to family-centred care for children with inherited metabolic diseases: a qualitative analysis (PDF) - 1

Adherence with NCCN Recommendations for Patients with Pathogenic/Likely Pathogenic Variants in BRCA1 and BRCA2, a Single Institution Study (PDF) - 1

The clinical utility of genome-wide sequencing for rare disease: A multidimensional map (PDF) - 1

A Comprehensive Study of Spinal Muscular Atrophy Testing Referrals' Data Among the Iranian Population Since 2006 (PDF) - 1

Improving the Capacity of the Clinical Genetics Workforce through an Implementation Science Lens (PDF) - 1

Navigating the Genetic Odyssey: Enhancing Early Recognition and Referral for Precise Diagnosis Through Human Phenotype Analysis (PDF) - 1

A Global Delphi Consensus Approach to Monitoring and Integrated Care Coordination of Patients with Alpha-Mannosidosis (PDF) - 1

Increasing access to precise genetic diagnoses for inpatients at Seattle Children's Hospital (PDF) - 1

Implementation strategies to improve access to genetic services in a low-resources setting: experience in Chile's Valparaíso Region (PDF) - 1

Pediatric exome sequencing compared with standard genetic testing: An analysis of private payer claims data (PDF) - 1

Improving Access to Genetics Care Through the Use of eVisits (PDF) - 1

Improving Access to Genetics Care Through the Use of eVisits (Audio) - 1

Enrollment of a Diverse Population into a Trial of Newborn Genomic Sequencing: Preliminary Data from the BabySeq Project (PDF) - 1

Enrollment of a Diverse Population into a Trial of Newborn Genomic Sequencing: Preliminary Data from the BabySeq Project (Audio) - 1

OPTIMIZING ACCESS TO GENETICS SERVICES FOR INDIVIDUALS WITH AUTISM SPECTRUM DISORDER THROUGH A 'GENETIC-COUNSELOR-FIRST' ASSESSMENT MODEL (PDF) - 1

The 'Goldilocks' panel: Determining the optimal number of genes for reproductive genetic carrier screening. (PDF) - 1

Hypermobility EDS: succesful implementation of a referral screening program. (PDF) - 1

Improving access to exome sequencing in medically underserved populations through the Texome Project: A summary of the first 74 cases (PDF) - 1

Predictors of Genetic Counseling Uptake When Using a Family Health History Platform for Hereditary Cancer Risk (PDF) - 1

Assessing Comfort Levels in Emergency Medicine Physicians When Managing Inborn Errors of Metabolism (PDF) - 1

Clinical Treatment Patterns and Outcomes of Sickle Cell from the Arkansas Newborn Screening Long Term Follow-up Database Study: 2011-2023 (PDF) - 1

U.S. Genetics Professional Workforce in 2023 (PDF) - 1

Optimizing Consent: An Analysis of Recruitment Data for the First 11,000 Consented ScreenPlus Parents (PDF) - 1

Delivery of Monogenic and Polygenic Results to Participants in the Genomic Medicine at Veterans Affairs (GenoVA) Study (PDF) - 1

Workflow Evaluation of Individuals for Abnormal Newborn Screens in the Era of Workforce Shortage: Experience From Two Academic Centers (PDF) - 1

Do social needs at diagnosis influence acceptance of genetic testing? A retrospective sample of people with ovarian cancer (PDF) - 1

Risk Management for Pediatric Patients with Clinically Actionable Pathogenic and Likely Pathogenic Variants with Onset Throughout the Lifespan (PDF) - 1

Risk Management for Pediatric Patients with Clinically Actionable Pathogenic and Likely Pathogenic Variants with Onset Throughout the Lifespan (Audio) - 1

Sleeping Giant: Underrecognized Clinical Genetics Programs Across the Vast Veterans Affairs (VA) Network (PDF) - 1

Long-Term Results and Challenges of Newborn Screening for Classic Homocystinuria in New York State (PDF) - 1

Newborn genomic sequencing for Duchenne muscular dystrophy: Model-based insights (PDF) - 1

Medically-Actionable Disease Risk Variants in a Diverse Population (PDF) - 1

A Descriptive Analysis of Genetic Factors Identified in 100% Pediatric Mortality Review (PDF) - 1

Project GIVE: Expanding Genetic Testing to Underserved Areas in the Rio Grande Valley Using an EHR-Agnostic Tele-Engagement Platform (PDF) - 1

Preparation to use a genetic risk score to screen newborns for type 1 diabetes risk in Early Check (PDF) - 1

Uncertainty and information management for Lynch syndrome in a genomic screening cohort: connections to clinical engagement (PDF) - 1

The Genetics Navigator: The development and usability testing of a new patient-facing digital health application to support clinical genetic testing (PDF) - 1

Patient and Clinician Perspectives on a Digital Health Platform for the Longitudinal Management of Genetic Cancer Predisposition (PDF) - 1

The impact of mainstreaming general genetic testing on patient wait-times (PDF) - 1

Utilization of One Month Follow-Up to Increase Uptake of Genetic Counseling Appointments in a Healthcare-based Population Genomic Screening Cohort (PDF) - 1

The Translational Genomics Hub (TGH): A New Precision Medicine Tool at the University of Alberta (PDF) - 1

Personalized Prescriptions: Potential Clinical Impact of Pharmacogenetic Screening (PDF) - 1

Returning all clinically relevant findings from genomic sequencing: Preliminary results from the Incidental Genomics RCT (PDF) - 1

The Mainstream Model Improves Equitable Access to Germline Testing for Veterans Affairs Patients with Advanced Prostate Cancer (PDF) - 1

Medical Genetics Providers Require Training and Institutional Support to Integrate Pharmacogenomic Testing (PDF) - 1

Medical Genetics Providers Require Training and Institutional Support to Integrate Pharmacogenomic Testing (Audio) - 1

Insurance Access to Genetic Testing: Experiences in the Midwest (PDF) - 1

Evidence-Based Methodology for Developing Coordinated Genetic Service Recommendations in Ontario (PDF) - 1

Enhancing Physician Support for Genetic Testing in Familial Hypercholesterolemia with a Comprehensive SmartSet (PDF) - 1

Point-of-care Genetic Testing with Paired E-consult: An Effective Alternative Service Delivery Model for Patients with Breast Cancer (PDF) - 1

Point-of-care Genetic Testing with Paired E-consult: An Effective Alternative Service Delivery Model for Patients with Breast Cancer (Audio) - 1

Developing the Patient-reported Genetic testing Utility InDEx (P-GUIDE): Assessing Value of Genetic Testing from Patients' Perspectives in Multiple Clinical Contexts (PDF) - 1

Development, Implementation, and Preliminary Results of Rapid Targeted Genomic Analysis in the Newborn Period (PDF) - 1

Meeting the increasing need for inpatient genetics services: experience at Texas Children's Hospital (PDF) - 1

Piloting an Australian Quality Assurance Program Interpretive Module for Genomic Testing (PDF) - 1

The Undiagnosed Rare Disease Clinic Program of Indiana University: lessons learned from the first 100 patients enrolled (Phase-I pilot) (PDF) - 1

The Undiagnosed Rare Disease Clinic Program of Indiana University: lessons learned from the first 100 patients enrolled (Phase-I pilot) (PDF) - 2

Newborn screening using CK-MM: Preferences of newborn screening professionals after an initial positive screen for Duchenne muscular dystrophy (PDF) - 1

Evaluating Parental Empowerment and Satisfaction in Neonatal Intensive Care Units for Families Experiencing Genetic Testing: a Mixed-Methods Study (PDF) - 1

Curious But Cautious: Patients' Preferences for All Types of Clinically Actionable Genomic Incidental Results (PDF) - 1

International policies guiding the identification, analysis, and management of secondary findings from genomic sequencing: results from a systematic review (PDF) - 1

Genome-Wide Sequencing Ontario (GSO): Canada's First Provincial Clinical Genome-wide Sequencing Service (PDF) - 1

Development of a Provincial Genetics Program in Ontario (PDF) - 1

Twenty years of newborn and carrier screening in the Old Order Amish population of Southwestern Ontario: evolution and evaluation. (PDF) - 1

Design and early findings from a mixed-methods study exploring the genomics era role of the medical geneticist in Canada (PDF) - 1

Developing a Health Human Resource Funding and Clinical Oversight Model for Genetic Services: The Ontario Approach (PDF) - 1

Using Direct Messaging for Patient Engagement in Inherited Cancer Risk Management: A Pilot Intervention (PDF) - 1

Integrating exome sequencing into a pediatric endocrinology clinic: A Genetics and Endocrinology Collaborative Quality Improvement Initiative. (PDF) - 1

The Clinician-reported Genetic testing Utility InDEX (C-GUIDE): Establishing Content Validity for a New Measure for Sequencing-based Newborn Screening (PDF) - 1

Universal Germline Genetic Testing for Breast Cancer at the Princess Margaret Cancer Centre (PDF) - 1

A novel team approach to evaluating and counselling children with variants of uncertain significance on microarray (PDF) - 1

Genetic Counselors' Perspectives on Shifting Emphasis to Post-Test Counseling Following Germline Genetic Testing in Cancer Care (PDF) - 1

Provider perspectives on genomic care in safety-net neonatal intensive care units (PDF) - 1

Bringing Equitable Access to Cancer Genetic Services: Implementing & Adapting a Digital Hereditary Cancer Screening Tool at an FQHC (PDF) - 1

How do patients with hereditary cancer syndromes navigate the healthcare system? A qualitative comparative study across Canada. (PDF) - 1

Cost not a barrier for adopters of pharmacogenetic testing: results from a study of causal models in different healthcare systems (PDF) - 1

Clinical utility returning of all types of medically relevant genomic sequencing findings: An observational study (PDF) - 1

Genetic Providers' Views on Trauma-Informed Care in Genetics Clinics (PDF) - 1

Implementing Genomics-Informed Risk Assessment for Common Complex Diseases - A Qualitative Case Study in an Academic Health System (PDF) - 1

Improving Patient Care for Recurrent Pregnancy Loss patients via a Multidisciplinary Relationship between OBGYN and Northwell Labs Across Northwell Health (PDF) - 1

A Novel Alternate Service Delivery Model for Genetic Counselling in a Rural Population: The New Brunswick Experience (PDF) - 1

Community-Oriented Genetics: Establishing A New Pediatric Genetics Clinic in The Muslim-Arab City of Tayibe, Israel (PDF) - 1

Mental Health in Fabry Disease: Results from a North American Survey of 401 Participants (PDF) - 1

A Model for Genetic Counselor Result Triage in a Busy Pediatric Neurology Division (PDF) - 1

With great panels comes great responsibility- in pursuit of a well-evidenced age-based genomic screen (PDF) - 1

With great panels comes great responsibility- in pursuit of a well-evidenced age-based genomic screen (Audio) - 1

Doing no Harm: Exploring the Psychosocial Impacts of Receiving Secondary Findings from Whole Exome Sequencing (PDF) - 1

Exploring genetic testing for rare disorders of obesity: Experience and perspectives of pediatric weight management providers (PDF) - 1

Global Genetic Health Assessment Project, Let's Not Leave Anyone Behind. (PDF) - 1

Innovations in Education: Empowering Child Neurology Residents with Basic Concepts in Genomic Testing Through a National Curriculum (PDF) - 1

Evaluating family-centered care in Pediatric Orthopedics at BC Children's Hospital: parents'/caregivers' perspectives (Audio) - 1

Evaluating family-centered care in Pediatric Orthopedics at BC Children's Hospital: parents'/caregivers' perspectives (PDF) - 1

NextGen Training of Medical Professionals for Evolving Genomic Interventions (PDF) - 1

Generating a framework for curating mechanism of disease in monogenic conditions: a consensus effort of the Gene Curation Coalition (PDF) - 1

Detection of Isodisomy Utilizing SNP Microarray: Frequency, Ascertainment, and Implications (Audio) - 1

Detection of Isodisomy Utilizing SNP Microarray: Frequency, Ascertainment, and Implications (PDF) - 1

Repeated Exome Reanalysis Is Most Impactful after Two Years and the Majority of New Findings Are in Neurodevelopmental Genes (PDF) - 1

Genome-wide short tandem repeat expansion screening using optical genome mapping (PDF) - 1

Summary of Findings from Comprehensive Genome Sequencing Performed in a Healthy Population Cohort (PDF) - 1

The Rare Genomes Project: Improving access to genomic sequencing and identifying causes of rare disease (PDF) - 1

Recalibration of Scoring Metrics to Assess the Pathogenicity of Constitutional Copy Number Variants (CNVs) (PDF) - 1

Genetic findings in afor cohort of over 1,800 patients tested with a combined cardiomyopathy and arrhythmia panel (PDF) - 1

Towards developing a comprehensive workflow for the identification of structural variants using clinical whole-genome sequencing (PDF) - 1

Care4Rare Canada: Application of a Multi-omics Protocol to Diagnose Rare Genetic Disease Patients at the End of Standard-of-Care (PDF) - 1

Comparison of GLA variant profile in newborn screening confirmatory testing and diagnostic testing for Fabry disease (PDF) - 1

CSMD1 Intragenic Exonic Deletions Strengthen the Association with Neurodevelopmental Disorders (PDF) - 1

Clinical Utility of Optical Genome Mapping as an Additional Test to Standard Cytogenetic Workup of Hematological Malignancies (PDF) - 1

Systematic review and reclassification of 20 years of RB1 single nucleotide and copy number variants (PDF) - 1

Amplification-Based Nanopore Sequencing Accurately Detects HBA and HBB SNVs, Indels, and Structural Variants in Clinical Thalassemia Samples (PDF) - 1

The qMini Assay Identifies an Overlooked Class of Splice Variants (PDF) - 1

Enhancing Data-driven Disease Detection in Newborns (ED3N): Designing a model to Improve Newborn Screening Risk Assessment (PDF) - 1

Enhancing Data-driven Disease Detection in Newborns (ED3N): Designing a model to Improve Newborn Screening Risk Assessment (Audio) - 1

De Novo and Inherited Variants in DDX39B Cause a Novel Neurodevelopmental Syndrome characterized by Hypotonia, Epilepsy, and Short stature (PDF) - 1

Diagnostic yield of digital gene panel from genome sequencing in common multifactorial endocrine and metabolic disorders (PDF) - 1

Evaluation of Stop-Loss and Frameshift Variants Extending Translation Beyond the Reference Stop Codon Detected by Carrier Screening (PDF) - 1

Examining Likely-somatic Variants in Cancer Susceptibility Genes Identified Through Germline Multigene Panel Testing (PDF) - 1

CYTOGENETIC AND MICROARRAY ANALSYSIS OF PRENATALLY DETECTED CONGENITAL HEART DEFECTS (CHD): DIAGNOSTIC FINDINGS AND VARIATION AMONG CHD SUBTYPES (PDF) - 1

Detection of Single-Gene Copy-Number Variations Through High-Resolution Exon-Targeted Chromosomal Microarray Analysis (PDF) - 1

Reducing Disparities in Cystic Fibrosis Newborn Screening in New York State (PDF) - 1

The ClinGen Syndromic Disorders Gene Curation Expert Panel (Audio) - 1

The ClinGen Syndromic Disorders Gene Curation Expert Panel (PDF) - 1

Diagnostic Challenges and Phenotypic Variations in Chimeric Genome-Wide Maternal and Paternal Uniparental Disomy: A Prenatal and Postnatal Perspective (PDF) - 1

All for One Clinical Genomics Network: Linking Canadian Diagnostic Laboratories to Share Genome-wide Sequencing Data to Support Rare Disease Diagnosis (PDF) - 1

Gene-disease validity assessments in pediatric movement disorders: prospective experience and retrospective analysis of concordance with expert curated panels (PDF) - 1

Beyond Single Nucleotide Variants and Copy Number Variations: Spinal Muscular Atrophy and Repeat Expansion Disorders Screening by Whole Genome Sequencing (PDF) - 1

pb-StarPhase: A Phase-Aware Pharmacogenomic Diplotyper for Long-Read Sequencing Data (PDF) - 1

Clinical Utility of MS-MLPA for the Diagnosis of Prader-Willi/ Angelman Syndrome: the GGC Experience (PDF) - 1

Genetic Modifiers As a Basis For Phenotypic Variability in Mosaic Trisomy 8 (PDF) - 1

Utility of cytogenomic SNP microarray for bone marrow failure syndrome patients (PDF) - 1

Diagnostic utility of NGS testing in a highly consanguineous population: findings from 1400+ Iranian patients with Mendelian disorders (PDF) - 1

RNA Sequencing as a Second-Line Test for Rare Disease (PDF) - 1

RNA Sequencing as a Second-Line Test for Rare Disease (Audio) - 1

Finding answers for clinical exome-negative patients: The University of Wisconsin Undiagnosed Disease Program (PDF) - 1

Identification of pathogenic genetic variants using whole genome sequencing in patients with epilepsy (PDF) - 1

Optical genome mapping for genome-wide structural variation analysis in hematologic malignancies: prospective study to determine impact on diagnosis and management (PDF) - 1

Improving Genome Diagnostics of Hemiplegic Migraine (PDF) - 1

Identification of trinucleotide repeat expansions in DMPK using rapid whole genome sequencing (PDF) - 1

Real-world comparison of HLA callers from exome sequencing data (PDF) - 1

Improvement of Variant Reclassification in Genetic Neurodevelopmental Conditions: Simons Searchlight Research Registry (PDF) - 1

The Addition of Exome-Wide CNV Analysis to Multi-Gene Panels Contributes to Positive Yield (PDF) - 1

The clinical genome: validation data beyond clinical exome (PDF) - 1

Low rate of clinical follow-up for potential germline variants identified in hematologic malignancies with a next generation sequencing panel (PDF) - 1

Genome-Wide Sequencing Ontario (GSO): Insight into Ontario's rare disease landscape (PDF) - 1

Is it time to switch to AlphaMissense for in-silico missense predictions? (Audio) - 1

Is it time to switch to AlphaMissense for in-silico missense predictions? (PDF) - 1

Optimizing Diagnostic Potential: Impact of Familial Sample Configurations on Exome Sequencing (PDF) - 1

Optimizing Diagnostic Potential: Impact of Familial Sample Configurations on Exome Sequencing (Video) - 1

Three years of newborn screening for MPS1 in Ontario: challenges of screening for the severe end of a disease continuum. (PDF) - 1

A PCR/Nanopore Assay for Accurate Variant Detection in Hard-to-Decipher Carrier Screening Genes with Automated Analysis Software (PDF) - 1

Genetic results in a cohort of 489 patients with inherited myopathies (PDF) - 1

Cytogenetic Findings in a Clinical Next Generation Sequencing Panel for Very Early Onset Inflammatory Bowel Disease (PDF) - 1

Performance and impact of clinical genome sequencing in patients with suspected rare genetic diseases in Peru (PDF) - 1

Utility of Highest Pathogenic Variant Frequency Approach for Application of BA1/BS1 ACMG Criteria to Reduce Variants of Uncertain Significance (Audio) - 1

Utility of Highest Pathogenic Variant Frequency Approach for Application of BA1/BS1 ACMG Criteria to Reduce Variants of Uncertain Significance (PDF) - 1

Clinical utility of structural variant calling using breakpoint analysis method for targeted NGS gene panels (PDF) - 1

Pool of Normal Optimisation for NGS-Based CNV Calling in a Clinical Setting (PDF) - 1

Genomic Hot Spots in Coding Regions: Identifying Regions Enriched for Heterozygote Excess Variants (PDF) - 1

A novel 198 kb partial duplication in KMT2C: report of a patient with features of Kleefstra syndrome-2 and adrenal ganglioneuroblastoma (PDF) - 1

Multi-Modal Testing, Including Long-Read Sequencing, to Elucidate an Unsolved Case of Dyskeratosis Congenita (PDF) - 1

Case Report: Haploinsufficiency of the HMGB1 Gene Causes 13q12.3 Microdeletion Syndrome (PDF) - 1

Clinical and Genetic Findings of >3,900 Individuals Tested via the navigateAPDS Sponsored Genetic Testing Program (PDF) - 1

Clinical and Genetic Findings of >3,900 Individuals Tested via the navigateAPDS Sponsored Genetic Testing Program (Audio) - 1

Exonic SVs driven by Alu/Alu-mediated genomic rearrangements contribute on a large scale to alleles underlying human Mendelian rare disease traits (PDF) - 1

Long Read Sequencing for the Analysis of Repeat Expansion Disorders (PDF) - 1

Lp(a) genetic risk screening using genome sequencing (Audio) - 1

Lp(a) genetic risk screening using genome sequencing (PDF) - 1

A Newly Derived DNA Methylation Signature for Koolen de Vries Syndrome Addresses the Diagnostic Challenges of the 17q21.31 Locus (PDF) - 1

A Newly Derived DNA Methylation Signature for Koolen de Vries Syndrome Addresses the Diagnostic Challenges of the 17q21.31 Locus (Audio) - 1

Genomic breakpoint analysis facilitates identification of complex rearrangements and re-classification of non-tandem duplications in the DMD gene (PDF) - 1

Large-Scale Genome Reanalysis of 159 Individuals Affected by Undiagnosed Genetic Diseases from the Stanford Center for Undiagnosed Diseases. (PDF) - 1

Amplification and Long-Read Sequencing of the Mitochondrial Genome (PDF) - 1

Application of AlphaMissense Prediction to Pathogenicity Classification of Missense Variants from Clinical Exome Sequencing (PDF) - 1

Development and Deployment of Clinical Genome Sequencing using a Cloud-Based Platform (PDF) - 1

Unveiling Noncoding DMD Variants: Synergizing RNA Sequencing and DNA Sequencing for Enhanced Molecular Diagnosis (PDF) - 1

Unlocking the Code: When SpliceAI Falls Short in Variant Assessment (PDF) - 1

Unlocking the Code: When SpliceAI Falls Short in Variant Assessment (Video) - 1

Utility of RNAseq in a cohort of undiagnosed congenital myopathy patients: A case series (PDF) - 1

Development of an affordable rapid human genome sequencing assay using long read PromethiON 2 (PDF) - 1

A validation study using droplet digital PCR to identify copy number changes at complement factor H related gene regions (PDF) - 1

Variant +7/-10 copy number alterations and their association with pathological features and prognosis in patients with Glioblastoma (PDF) - 1

Myotonic dystrophy type 1 genetic testing in over 30,000 patients: Does size matter as patients get older? (PDF) - 1

Bleeding Complications in Pregnant Carriers of Factor IX and Factor XI Ascertained Through Carrier Screening (PDF) - 1

High-Yield Diagnostic Testing of FGF14 Repeat Expansion in Cerebellar Ataxia Across the North American Population (PDF) - 1

Mosaic X-Ring Chromosomes (45,X/46,X,r(X)) In Turner Syndrome (TS): A Case Series Highlighting 42 Years of Experience in a Single-Institution (PDF) - 1

Genetic Counselor Involvement Increases the Uptake and Success of Familial Studies in Variant Re-classification for Disorders of Hemostasis (PDF) - 1

Performing long-read sequencing from dried blood spot cards (PDF) - 1

Title: Improved diagnostic paradigm using Optical Genome Mapping (OGM) for cytogenomic testing for recurrent pregnancy loss and infertility. (PDF) - 1

Title: Improved diagnostic paradigm using Optical Genome Mapping (OGM) for cytogenomic testing for recurrent pregnancy loss and infertility. (Audio) - 1

Structural Variants Identified by Short-read Genome Sequencing Solves Missing Heritability in Retinal Dystrophies (PDF) - 1

Detection of variant parent-of-origin in diverse hereditary cancer syndromes using only the proband's blood sample (PDF) - 1

A comprehensive genotyping study in Mexican patients with Fanconi anemia identified reported, novel, and founder pathogenic variants. (PDF) - 1

A comprehensive genotyping study in Mexican patients with Fanconi anemia identified reported, novel, and founder pathogenic variants. (Audio) - 1

Functional Analysis of X-linked Dyskeratosis Congenita Gene (DKC1) Showed Altered Nucleolar Localization and Post-Translational Modification. (PDF) - 1

JAK2 Exon 12-15, CALR and MPL Essential MPN NGS Panel (PDF) - 1

Updates on phenotypic spectrum and genotype-phenotype correlation of WDFY3-related syndrome (PDF) - 1

Characterization of Epstein-Barr Virus-associated smooth muscle tumor in an immunocompromised patient (PDF) - 1

Functional Genomic Studies Resolve an OTUD6B Deep Intronic Variant Causing Isoform Imbalance (PDF) - 1

Functional Genomic Studies Resolve an OTUD6B Deep Intronic Variant Causing Isoform Imbalance (Audio) - 1

Genome Sequencing defines the breakpoints of a TP53 promoter region deletion required for the purpose of Preimplantation Genetic Testing. (PDF) - 1

Kagami-Ogata syndrome due to uniparental isodisomy 14 and a small supernumerary marker chromosome (PDF) - 1

Single Gene Deletion of FGF3 in a Patient with Features of 11q13 Microdeletion Syndrome (PDF) - 1

PMP22 single exon deletion in a proband with hematologic malignancy and family history of Charcot-Marie-Tooth disease (PDF) - 1

A Collaborative Model Integrating Clinical Genetics and Molecular Pathology for Tumor/Normal Paired Whole Exome Sequencing Testing (PDF) - 1

New Artificial Intelligence-based computer-aided chromosome analysis and karyotyping - a pilot evaluation (PDF) - 1

Commercial Cystic Fibrosis Carrier Screening Tests and Coverage of the ACMG 100 Recommended Variants (PDF) - 1

Four Cases of unbalanced (Xq28 / Yq12):autosome translocation identified by chromosomal microarray analysis (PDF) - 1

Gene Variant Spectrum in Probands with Familial Exudative Vitreoretinopathy (PDF) - 1

Interrogating the Source: An Investigation of the Impact of Founder Variants on Residual Risk in Carrier Screening (PDF) - 1

Deciphering the Collagen Code: Navigating Variant Curation Complexities in Skeletal Disorders (PDF) - 1

Evolving from case counts to case-controls data: Updated PS4 recommendations from ClinGen's Cardiomyopathy Variant Curation Expert Panel (PDF) - 1

Biallelic variants in BECN1 are associated with a complex neurodevelopmental syndrome (PDF) - 1

Ultrarapid Whole Genome Sequencing Facilitates Early Definitive Diagnosis of Rare Genetic Disorders (PDF) - 1

Segregation outcomes of embryos undergoing preimplantation genetic testing for structural rearrangements (PGT-SR) in the setting of a familial reciprocal translocation (PDF) - 1

Carrier Screening with the ACMG 113: An Early Look and New Insights (PDF) - 1

Phenotype expansion or multilocus variants? Additional molecular findings in patients with well-known chromosomal disorders (PDF) - 1

Assessing the variant landscape in patients: An emerging partnership between biopharmaceutical companies and commercial laboratories. (PDF) - 1

Characterization of Usher syndrome cell line genotypes and investigation of novel microRNA biomarkers using microRNA microarray and droplet digital PCR (PDF) - 1

Variant Classification Discrepancies in the ACADVL Gene (PDF) - 1

Variant Classification Discrepancies in the ACADVL Gene (Audio) - 1

Performing NGS Testing for Myeloid Malignancies in an Academic Medical Center Improves Turnaround Time and Cost (PDF) - 1

Classification of TP53 Non-Synonymous Sequence Variants Using Structural and Molecular Dynamic Simulation Analyses. (PDF) - 1

Integration of Protein Stability and Structural Context Scores Improves Bioinformatics Predictions for BRCA1 and TP53 Gene Variants (PDF) - 1

Elevating Pharmacogenomics: A Tailored In-House Solution for Empowering Accurate Clinical Decision Support (PDF) - 1

Identification of an intronic Alu insertion in the SYNE1 gene associated with autosomal recessive spinocerebellar ataxia type 8 (Audio) - 1

Identification of an intronic Alu insertion in the SYNE1 gene associated with autosomal recessive spinocerebellar ataxia type 8 (PDF) - 1

Novel combined molecular diagnosis of rare digynic triploidy in preterm neonates (PDF) - 1

Novel combined molecular diagnosis of rare digynic triploidy in preterm neonates (Audio) - 1

Case Report: Unraveling a Complex Chromosomal Rearrangement Case Using Optical Genome Mapping (PDF) - 1

Uncertainty in Interpretation of GAA Variants Detected Through Newborn Screening without Clinical Manifestation of Pompe Disease (PDF) - 1

Case Presentation: Co-segregation of a Rare GLA Variant of Uncertain Significance within 2 Multiplex Families Facilitates Variant Reclassification to Pathogenic (PDF) - 1

Prenatal diagnosis and postnatal clinical course of a fetus with low-level mosaic trisomy 17q (PDF) - 1

A Streamlined Testing of Mosaic Maternal Isodicentric Supernumerary Chromosome 15q11.2q13 [idic(15)] (PDF) - 1

Identification of a novel pathogenic variant in SERPINH1 associated with a presentation of osteogenesis imperfecta: Case Study (PDF) - 1

Heterozygous Deletion of Valine at Position 2321 of RYR2 in Two Siblings with Sudden Cardiac Death (PDF) - 1

Novel Presentation of Dextrocardia in TGIF1--related Holoprosencephaly (PDF) - 1

Mosaic Monosomy/Partial Trisomy 13 Resulting from an Unstable Ring Chromosome in A Child with Multiple Congenital Anomalies and Developmental Delay (PDF) - 1

Pathogenic ZIC2 Polyalanine Expansion Detected by Exome Sequencing in a Family with Multi-Generation Holoprosencephaly (PDF) - 1

Whole exome sequencing enables the correct diagnosis of Frank-Ter Haar syndrome in a Saudi family. (PDF) - 1

ChIP-DIP: A Highly Multiplexed Method for Mapping DNA-Associated Proteins to Study the Epigenomic Landscape (PDF) - 1

Improved Interpretation of PHOX2B Missense Variants for Diagnosis of Congenital Central Hypoventilation Syndrome (CCHS) Using In Silico Prediction Algorithms (PDF) - 1

Additional Evidence Supporting and Expanding the Phenotype Associated with MED12L Loss-of-Function Variants (Audio) - 1

Additional Evidence Supporting and Expanding the Phenotype Associated with MED12L Loss-of-Function Variants (PDF) - 1

Clinical laboratory quality system enhancement addressing acquired loss of chromosome Y (PDF) - 1

Self Reported vs. Genetic Ancestry from the GENCOV COVID-19 Genomic Sequencing Study (PDF) - 1

Phenome-wide association study (PheWAS) for the Canadian HostSeq Biobank (PDF) - 1

PMS2 in Somatic Oncology Testing - Real or Pseudogene interference? (PDF) - 1

A Novel Framework for Use of the PP1/BS4 Co-segregation and PP4 Phenotype Specificity Criteria for Sequence Variant Pathogenicity Classification (PDF) - 1

Estimating the prevalence of de novo monogenic disorders from gnomAD database (PDF) - 1

Genome Screening of Newborns: Sequencing is Easy, Assessing the Clinical Utility of Genomic Findings Uncovered in Asymptomatic Children is Challenging (PDF) - 1

Analyzing Performance of the Twist Exome with CNV Backbone at Various Probe Densities Leveraging Golden Helix VS-CNV (Audio) - 1

Analyzing Performance of the Twist Exome with CNV Backbone at Various Probe Densities Leveraging Golden Helix VS-CNV (PDF) - 1

Real-world Implications of New Population Genomic Datasets for Clinical Variant Interpretation (PDF) - 1

The Landscape of Clinical Geneticists' Perspectives and Practices in India (Audio) - 1

The Landscape of Clinical Geneticists' Perspectives and Practices in India (PDF) - 1

Analytical Validation of a Comprehensive Targeted DNA Sequencing Panel for Hematologic Malignancies (PDF) - 1

SMN1 deletion and silent carrier screening for Spinal Muscular Atrophy (PDF) - 1

Single cell RNA-Seq in zebrafish foxe3 crispants shows significant dysregulation of cdon (PDF) - 1

Computational Tool Performance Across BRCA1: A Case-Control Informed Analysis (PDF) - 1

Low- Level Large Deletions in Mitochondria Genomes: A Potential Diagnosis of Mitochondrial Diseases (PDF) - 1

Identification of remarkable Y chromosome structural abnormalities and their link with various clinical presentations (PDF) - 1

A Unique Presentation of Triple X Syndrome with Four Copies of SHOX and Additional Low-Level Aneuploidy Mosaicism (PDF) - 1

Molecular profile and associated prognosis in systemic mastocytosis with an associated hematologic neoplasm-a case report (PDF) - 1

Genome sequencing (GS) in deceased neonate revealed loss-of-function MECOM variant highlighting clinical utility of GS as first-tier testing (PDF) - 1

Genome sequencing (GS) in deceased neonate revealed loss-of-function MECOM variant highlighting clinical utility of GS as first-tier testing (Audio) - 1

Rare Disease Diagnostics using RNA-Seq: How an Investigational Transcriptomic Test Helped Conclude a 12-Year Diagnostic Odyssey (PDF) - 1

Rare Disease Diagnostics using RNA-Seq: How an Investigational Transcriptomic Test Helped Conclude a 12-Year Diagnostic Odyssey (Audio) - 1

Identification of Multiple Diagnoses in Pediatric Patients through Genome Sequencing (PDF) - 1

Development of Comprehensive Gene-/Disease-Specific Analysis and Knowledgebase to Enhance the Efficiency and Accuracy of Sequence Variant Interpretation and Clinical Reporting. (PDF) - 1

TERT Gene Promoter Region Mutation Analysis in Glioma Using Multiplex SNaPshot Method (PDF) - 1

Prenatal Diagnostic Genetic Testing in 2023: The Experience of a Medical Center-Affiliated Cytogenetics Laboratory (PDF) - 1

Comparative Analysis of DNA Variant Classifications Between the GENCOV COVID-19 Genome Study and the ClinVar Database (PDF) - 1

Hemoglobin S Coinheritance with Unusual Clinically Significant Beta Globin Variants (PDF) - 1

Structural Variant Analysis Unveils Loss-of-Function Promoter Deletion in Candidate Gene WDR44 (PDF) - 1

Constitutional Mosaic Pericentromeric Trisomy 8 in a Female Patient with Aplastic Anemia (PDF) - 1

Prenatal phenotype and female congenital genital malformation caused by a novel KDM6A mutation in a three-generation pedigree (PDF) - 1

Novel PIGA-related disorder gene variant: Whole exome sequencing, postmortem sample analysis, and updated variant classification solves 20+ year diagnostic odyssey (PDF) - 1

A Recurrent Partial Trisomy 9 and 18 Chromosome in Siblings Resulting from 3:1 Meiotic Segregation of a Maternal Balanced Translocation (PDF) - 1

DMD or not DMD? Clinical Genome Sequencing in the Interpretation of Complex Copy Number Gains (PDF) - 1

Brothers concordant for adverse phenotype and Primrose syndrome apparently by parental gonadal mosaicism for ZBTB20 variant (PDF) - 1

Assessing Stability of Frozen Samples for Bionano Optical Single DNA Mapping for Diagnosis of Facioscapulohumeral Muscular Dystrophy Type 1 (PDF) - 1

Uncovering hidden complex structural mechanisms: Conventional karyotype as a complement to chromosomal microarray (PDF) - 1

Comparative Analysis of Ion Torrent Sequencing Platforms: Unveiling Enhanced Performance and Precision with the GenexusTM integrated sequencer in Clinical Applications (PDF) - 1

High-fidelity Whole Genome Sequencing of FFPE Tumor-Derived Nucleic Acids stored at Ambient Temperature (PDF) - 1

Genome wide, high-throughput, high-resolution structural variation detection at low variant allele fraction for oncology samples (PDF) - 1

Novel insights into the pleiotropic health effects of growth differentiation factor 11 gained from genome-wide association studies in population biobanks (PDF) - 1

Duplication of 12q24.11-q24.31 in a patient with Noonan-like features (PDF) - 1

A Newly Created Database to Improve the Process of Variant Reclassification for a University-based Hospital Laboratory (PDF) - 1

Clinical Validation of Transcriptome Analysis for the diagnosis of Mendelian Disorders (PDF) - 1

Challenges in Interpretation of RNA-Seq Data Limit Variant Reclassification (PDF) - 1

It's About Time: How Key Genes Linked With Post-Traumatic Stress Disorder Evolve (PDF) - 1

Additional Significant Findings in Individuals with Ashkenazi Jewish Founder Variants (PDF) - 1

2q22.1q22.3 microdeletion - a case report and literature review (PDF) - 1

Clinical Utility of the 2021 ACMG Gene Tiers in Expanded Carrier Screening (PDF) - 1

A Clinical Laboratory Experience with a 787-gene Carrier Screening Panel: Comparing Tier 3 and Tier 4 Outcomes (PDF) - 1

Impact of Prenatal Genetic Diagnosis on Pregnancy Termination: Experience from a Single Center (PDF) - 1

Impact of Prenatal Genetic Diagnosis on Pregnancy Termination: Experience from a Single Center (Audio) - 1

Calculating Maternal Polygenic Risk Scores from Prenatal Screening by cell-free DNA Data (PDF) - 1

Short-read haplotype-assisted genotyping for prenatal screening of monogenic disorders (PDF) - 1

Utility of Genetic Evaluation of Congenital Posterior Fossa Anomalies (PDF) - 1

RNA Sequencing Improves Assessment of Variants of Uncertain Significance From Fetal Genome and Exome Sequencing (PDF) - 1

Decoding parental reporting preferences from genome sequencing in the presence or absence of a fetal ultrasound phenotype (PDF) - 1

A combined Bayesian inference and machine-learning approach for prenatal screening by cell free DNA of monogenic disorders (PDF) - 1

Genetics of Prenatally Diagnosed Micro/Anophthalmia (PDF) - 1

Clinical Utility of Prenatal Exome Sequencing: Insights From a 10-year Cohort (Video) - 1

Clinical Utility of Prenatal Exome Sequencing: Insights From a 10-year Cohort (PDF) - 1

Trio-whole exome and whole genome sequencing in fetal central nervous system anomalies (PDF) - 1

Incidental detection of maternal cancer in prenatal cell-free DNA screening: Clinical laboratory experience and reporting of Multiple Structural Variants (PDF) - 1

Optimal Amniotic Fluid Volume Required for Direct Chromosomal Microarray Analysis. (PDF) - 1

Optimal Amniotic Fluid Volume Required for Direct Chromosomal Microarray Analysis. (Audio) - 1

Fetus with Cole-Carpenter Type 2 Presenting with Novel Neonatal Lethal Skeletal Dysplasia (PDF) - 1

Diagnosis of Au Kline Syndrome in a Fetus with Lower Urinary Tract Obstruction: Case Report and Literature Review (PDF) - 1

Maternally Inherited 11p15 Duplication involving only part of the ICR1 H19/IGF2 domain: Unraveling Mild Russell-Silver Syndrome Phenotype (PDF) - 1

Autosomal recessive cutis laxa type 1B in two successive pregnancies due to a novel homozygous EFEMP2 variant (PDF) - 1

Severely Elevated Bile Acids in Pregnancy and No-Call Result on Non-Invasive Prenatal Screening (PDF) - 1

Severely Elevated Bile Acids in Pregnancy and No-Call Result on Non-Invasive Prenatal Screening (Audio) - 1

Congenital Brain Malformations in TPK1-related Disorder - A Novel Severe Phenotype (PDF) - 1

Utility and Diagnostic Yield of Prenatal Skeletal Dysplasia Panel Testing (PDF) - 1

Improving peripartum health is an unappreciated advantage of prenatal genome sequencing (PDF) - 1

Prenatal Whole Exome Sequencing: Diagnostic Yield, Syndromic Landscape, and Incidence and Uptake of Secondary Findings (PDF) - 1

Validation of low-pass genome sequencing for prenatal diagnosis (PDF) - 1

Two Fetuses with Hereditary Hemorrhagic Telangiectasia Presenting with Rare Finding of Arteriovenous Malformations (PDF) - 1

Prenatal and Perinatal Features of a Type 2 Collagenopathy and COL2A1 Variant (PDF) - 1

Milroy Disease Presenting as Hydrops Fetalis: A Case Series (PDF) - 1

Utility of Whole Exome Sequencing in Desperate Prenatal Patients (PDF) - 1

Not Through with 22q: Case series of false negative cfDNA results and the importance of a priori risk on NPV (PDF) - 1

The ADGRA2 Gene is Associated with Multiple Fetal Brain Anomalies in Humans (PDF) - 1

Yield of exome sequencing in congenital brain malformations identified on fetal MRI (PDF) - 1

Effectiveness of expanded carrier screening and prenatal ultrasound in identifying disorders among consanguineous couples (PDF) - 1

Effectiveness of expanded carrier screening and prenatal ultrasound in identifying disorders among consanguineous couples (Audio) - 1

Amniotic fluid fetal DNA concentration is higher in females and varies with gestational age (PDF) - 1

Pre- and post-implementation of protocol for genetics evaluation for intrauterine fetal demise at Texas Children's Hospital (PDF) - 1

Impact of the COVID-19 Pandemic on Prenatal Genetic Screening Test Acceptance in Western North Carolina (PDF) - 1

Effectiveness of expanded prenatal carrier screening among consanguineous couples of Afghan descent (PDF) - 1

Prenatal Diagnosis of a Novel Biallelic ARFGEF1-Related Disorder Due to Uniparental Isodisomy: a Case Report (PDF) - 1

A Likely Pathogenic Variant of PBX1: Abnormal renal morphology and multiple cardiac anomalies identified by fetal ultrasound (PDF) - 1

Prenatal Diagnosis of GATA6-Related Disorder in a Maternal-Fetal Dyad: The value of prenatal diagnosis in complex decision-making (PDF) - 1

Experiences with an Adult Reproductive Clinical Genetics & Genomics Clinic: Insights and Opportunities (PDF) - 1

Non-mosaic Trisomy 9 - prenatal and fetal autopsy findings with further delineation of the clinical phenotype (PDF) - 1

Non-mosaic Trisomy 9 - prenatal and fetal autopsy findings with further delineation of the clinical phenotype (Audio) - 1

Abortion preferences of patients with abnormal prenatal genetic diagnosis in an access-restricted state (PDF) - 1

Trisomy 22 with 80% Mosaicism: A Case Report (Audio) - 1

Trisomy 22 with 80% Mosaicism: A Case Report (PDF) - 1

Cautionary Tale on Preconception Counseling and Genetic Testing in a Case of Non-Ketotic Hyperglycinemia (NKH) in Dichorionic Diamniotic Twins (PDF) - 1

Prenatal diagnosis of atypical Holt-Oram syndrome caused by a novel inherited intragenic TBX5 duplication: a rare mechanism with variable expressivity (PDF) - 1

Rare Clinical Gene Variant of GBE1: Glycogen Storage Disease IV (PDF) - 1

Prenatal diagnosis of maternal uniparental disomy of chromosome 20: A case report and review of the literature (PDF) - 1

A Retrospective Analysis of Pregnancy Outcome and Obstetric Care in Individuals with Genetic Conditions Compared to Controls (PDF) - 1

Diagnosis and management of pregnant people with inborn errors of metabolism in an adult reproductive genetics and genomics clinic (PDF) - 1

Case Report: Incidental Diagnosis of Lynch Syndrome by Prenatal Microarray (PDF) - 1

Prenatally Diagnosed Ring Chromosome 18: A Case Report (Audio) - 1

Prenatally Diagnosed Ring Chromosome 18: A Case Report (PDF) - 1

Multiple Fetal Anomalies Suggest a Role for CDK20 in Human Ciliopathies (PDF) - 1

Experiences of Black Pregnant People Offered Prenatal Diagnosis in the Setting of Fetal Anomalies: A Qualitative Study (PDF) - 1

Cases of survivorship: prenatal counseling for double heterozygosity in skeletal dysplasia (PDF) - 1

Cases of survivorship: prenatal counseling for double heterozygosity in skeletal dysplasia (Audio) - 1

Prenatal Diagnosis of Tetrasomy 21: Case Reports (PDF) - 1

A new fetal sonographic characteristics of Baraitser–Winter Cerebrofrontofacial syndrome with ACTB mutation: pulmonary stenosis (PDF) - 1

Multivariate Symptom Modeling and Automated Phenotype Expansion Doubles the Penetrance of Loss-of-Function Variants in a Population-scale Cohort (PDF) - 1

Multivariate Symptom Modeling and Automated Phenotype Expansion Doubles the Penetrance of Loss-of-Function Variants in a Population-scale Cohort (Audio) - 1

Data from electronic healthcare records expands our understanding of X-linked genetic diseases (PDF) - 1

Genome-wide Resolution of Highly Homologous Genes Using Long-read PacBio HiFi Sequencing (PDF) - 1

Place Hereditary Angioedema in the Radar of Pediatricians Through an Innovative Education Program and Measure Impact with Real World Evidence (PDF) - 1

Long-read sequencing resolves CYP21A2 alleles in Congenital Adrenal Hyperplasia (PDF) - 1

Navigating genetic risk: Mapping variant's probability of occurring de novo and inferring their effect sizes on neurodevelopmental symptoms (PDF) - 1

Insights and Strategies for Inclusive Adolescent and Young Adult Participation in Genetics Research (PDF) - 1

GREGoR: increasing rare disease diagnosis using emerging technologies and data sharing (PDF) - 1

GENYSIS: a novel core facility for clinical evaluation of research genomic sequence (PDF) - 1

GENYSIS: a novel core facility for clinical evaluation of research genomic sequence (Audio) - 1

Evaluating HLA allele-disease associations in ClinGen: Development of a new curation tool (PDF) - 1

The Greenwood Genetic Center's approach to developing the future genetics workforce (PDF) - 1

GenIDA, an international participatory database to better characterise comorbidities of genetic forms of intellectual disability: Novel findings of DDX3X syndrome (PDF) - 1

Comparative medical genetics to facilitate the interpretation of rare missense variation (PDF) - 1

Detection and quantification of multiple deletions in mitochondria and heteroplasmy levels using PacBio long read sequencing. (PDF) - 1

Positive allosteric modulation in treatment of GRIN1 gene related neurodevelopmental disorders: promises and challenges (PDF) - 1

Discovering phenotype-gene correlations using Variant WorkBench (PDF) - 1

A novel cardiac genetic knowledge scale: Development and evaluation of face validity and concept validity (PDF) - 1

A Genetic Counselors Watchlist: Framework for Gene Discovery (PDF) - 1

A Framework and Implementation of the Association of Professors of Human and Medical Genetics Updated Core Competencies for Medical School (Audio) - 1

A Framework and Implementation of the Association of Professors of Human and Medical Genetics Updated Core Competencies for Medical School (PDF) - 1

DNA Methylation Profiling in Kabuki Syndrome: Steps Towards Improved Classification of Variants of Uncertain Significance (PDF) - 1

Spectrum of short tandem repeats in Taiwanese population (PDF) - 1

A curated research catalogue of structural variation detected by optical genome mapping (PDF) - 1

Advantages of long-read sequencing in clinical genomics: A pilot study on ataxia patients (PDF) - 1

Recruitment, Consent and DNA Sample Acquisition in a U.S. Precision Health Cohort During the COVID-19 Pandemic (PDF) - 1

Unified Comprehensive Analysis of NGS and Optical Genome Mapping Data for Constitutional Applications Using Bionano VIATM Software (PDF) - 1

Development of a Logic Model to Inform a Measurement Strategy for a Provincial Genetics Program: Approach and Lessons Learned (PDF) - 1

HemaSure-OMXP: A non-toxic venous whole blood collection device enabling the 14-day room temperature stabilization of cell-free DNA. (PDF) - 1

The ClinGenRecs Web Portal: Streamlining Access to Medical Genetics Resources and Tools (PDF) - 1

How clinical trial-inclusion criteria are failing Phenylketonuria patients and risking exhaustion of the eligible patient population. (PDF) - 1

Novel Structural Variant in PDGFB-associated with Ectopic Intracerebral Calcifications (PDF) - 1

iSWABTM-DNA: A long-term buccal sample collection device that preserves high-quality DNA at room temperature and challenges transportation conditions. (PDF) - 1

Accelerated Optical Genome Mapping Analysis with Stratys Compute and Guided Assembly (PDF) - 1

Successful (and Unsuccessful) Recruitment Approaches and Participant Loss in a Down Syndrome Survey (Audio) - 1

Successful (and Unsuccessful) Recruitment Approaches and Participant Loss in a Down Syndrome Survey (PDF) - 1

Optimizing RNA Isolation Methods for Gene Expression Detection and Generation of Quality Transcriptome Sequences from FFPE Cardiac Tissue (PDF) - 1

Racial, Ethnic, & Socioeconomic Disparities in General Genetics Evaluation & Testing in the Adult Population (PDF) - 1

Motivations for Cascade Genetic Testing and Reactions to Results for Select Adult-Onset Conditions in a Pediatric Genomic Results Study (Audio) - 1

Motivations for Cascade Genetic Testing and Reactions to Results for Select Adult-Onset Conditions in a Pediatric Genomic Results Study (PDF) - 1

Traceback testing for ovarian cancer: implementer and participant perspectives (PDF) - 1

Perceptions of Family Health History in an East Baltimore Community (Audio) - 1

Perceptions of Family Health History in an East Baltimore Community (PDF) - 1

Medical genetics and genomics residents' perceptions of their gaps in knowledge regarding the clinical intersections of race and racism. (PDF) - 1

Optimism and pessimism about genome sequencing in pediatric health care: Preliminary findings in the BabySeq Project (PDF) - 1

Reframing the Narrative on Incompatible With Life in Trisomy 18 & 13 (Audio) - 1

Reframing the Narrative on Incompatible With Life in Trisomy 18 & 13 (PDF) - 1

A Health Systems Framework to Advance Equity in Medical Genetics Policy and Practice (PDF) - 1

Newborn Screening for Pompe Disease in South Florida: The Clinical Experience (PDF) - 1

How to conduct equitable genetics research to include underserved populations: a systematic review of best practices. (PDF) - 1

Colombian Pacific genetics initiative: a project for the diagnosis and research of genetics rare disease. (PDF) - 1

Employees' views and healthcare utilization following employer-sponsored pharmacogenomic testing at a large US healthcare system (PDF) - 1

Rare Disease Narratives on Social Media (PDF) - 1

Exploring the impact of secondary findings in a cohort of patients and families receiving genome-wide sequencing (PDF) - 1

'I worry I don't have control': The psychosocial impacts of living with a hereditary cancer syndrome (PDF) - 1

How Many Lost Diagnoses? Addressing Inequitable Access to Genomic Testing for Rare Diseases in Rural Populations (PDF) - 1

Building an Equitable Network to Study Genetic Risk of Severe Acute Malnutrition in Multiple African Populations (PDF) - 1

Racial Disparity in the Diagnosis of Mitochondrial Disease (PDF) - 1

Genetic Insight, Social Impact: Transforming Care through Sotos Syndrome Diagnosis (PDF) - 1

Hospitalization of patients with organic acidemias: clinical characteristics and economic evaluation (PDF) - 1

'If you look for a problem, you'll find one': A qualitative study to understand why parents/adult patients decline secondary findings (PDF) - 1

Parental Perspectives and Experiences on the Implications of Expanded and Universal Newborn Screening (PDF) - 1

Home-Based Call: Description of the Sleep Impacts on Geneticists and Metabolists and Creation of RareCap, a Workforce Support Innovation (Audio) - 1

Home-Based Call: Description of the Sleep Impacts on Geneticists and Metabolists and Creation of RareCap, a Workforce Support Innovation (PDF) - 1

Effects of Social Determinants of Health on Diagnosis of Neurofibromatosis Type 1 within the All of Us Research Program (PDF) - 1

Understanding the Advantages of Translating Educational Materials for the Clinical Genome Resource (PDF) - 1

Federal Legislation Related to the Genetics Service Delivery System: 2023 Trends (PDF) - 1

Facilitating return of genetic research results from a biobank repository: participant uptake and utilization of digital interventions (PDF) - 1

The Long and Winding Road of Biomarker Legislation (PDF) - 1

Connecting Patient Experience Literature to Clinical Practice: What Individuals and Parents Desire in Delivering the Diagnosis of Sex Chromosome Aneuploidy (PDF) - 1

Knowledge, attitudes, and perceptions of pharmacogenomics among low-income residents of central Indiana (PDF) - 1

A focus group interview study toward developing a press release guide unique to genomic issues (PDF) - 1

A Community-Based Approach to the Reporting of Secondary Findings in Indigenous Communities in Canada. (PDF) - 1

Evaluating Social Influences on Blood Phenylalanine Levels in Phenylketonuria Patients (PDF) - 1

A Children's Rights Framework for Personalized Medicine - Solutions to Healthcare Equity by Pivoting to Newborn Screening and Sequencing (PDF) - 1

A Children's Rights Framework for Personalized Medicine - Solutions to Healthcare Equity by Pivoting to Newborn Screening and Sequencing (Audio) - 1

Quality-of-Life and Healthcare Accessibility in Native American Myopathy: Study Design, Demographics, Diagnosis, and Chronic Health Conditions of Enrolled Subjects (PDF) - 1

Quality-of-Life and Healthcare Accessibility in Native American Myopathy: Study Design, Demographics, Diagnosis, and Chronic Health Conditions of Enrolled Subjects (Audio) - 1

'Should I let them know I have this?': Concerns and experiences of genetic discrimination amongst individuals with hereditary cancer syndromes (PDF) - 1

Disparities in Pediatric Exome Sequencing Outcomes (Audio) - 1

Disparities in Pediatric Exome Sequencing Outcomes (PDF) - 1

Limitations in access to genetic counseling training programs across the globe (PDF) - 1

Financial Resources for Cancer Genetic Testing: A Quality Improvement Project in a Detroit Metro Area Community Hospital (PDF) - 1

Financial Resources for Cancer Genetic Testing: A Quality Improvement Project in a Detroit Metro Area Community Hospital (PDF) - 2

DEIJ Advancement in The Genomics Laboratory Through GC-Driven Advocacy:  A Process Improvement Review of Sex/Gender Verification SOPs (Audio) - 1

DEIJ Advancement in The Genomics Laboratory Through GC-Driven Advocacy:  A Process Improvement Review of Sex/Gender Verification SOPs (PDF) - 1

Comparing basic genetics knowledge between medical school students in Ecuador and students in the USA (PDF) - 1

2024 ACMG Abstract Search

Outcomes In 14 Live Births Resulting From Pegvaliase-Treated Pregnancies In Females With PKU

Recommendations from the ClinGen Peroxisomal variant curation expert panel for variant classification in ABCD1 (PDF) - 1

Siblings with autism and asparagine synthetase deficiency; a phenotypic expansion of the condition's neurodevelopmental profile (PDF) - 1

Exploring Diagnostic Yield and Challenges in Exome Sequencing in Highly Consanguineous Tamil Nadu Cohort from South India. (PDF) - 2

Evaluating The Clinical Diagnostic Yield of Fragile X and Chromosome Microarray Testing for Patients with Autism and/or Intellectual Disability _1

DTC-GT Case Scenarios: Comparing ChatGPT Answers to an Approach Developed by Genetics Health professionals_1

Novel Markers of Pyruvate Dehydrogenase Complex Deficiency on Fetal Brain MRI_1

Online Supplement to Genetics in Medicine OPEN

Clinical Laboratory Experience of Frataxin Quantification in Blood for the Diagnosis of Friedreich Ataxia

Exploring Diagnostic Yield and Challenges in Exome Sequencing in Highly Consanguineous Tamil Nadu Cohort from South India. (Audio) - 1

Siblings with autism and asparagine synthetase deficiency; a phenotypic expansion of the condition’s neurodevelopmental profile_1

Recommendations from the ClinGen Peroxisomal variant curation expert panel for variant classification

Urine Polyols for Diagnosis of Sorbitol Dehydrogenase (SORD) Deficiency-Related Peripheral Neuropathy

Atidarsagene Autotemcel (Hematopoietic Stem Cell-Gene Therapy) Preserves Cognitive and Motor Development in Metachromatic Leukodystrophy with up to 12 Years Follow-up

Evaluation and Application of a Genetic Risk Score for Uric Acid in Trans-Ancestry All of Us Cohort

PP4 criteria specifications for proximal urea cycle disorders

ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation Expert Panel: addressing the need for genetic variant classification in G6PD deficiency

Insights from Georgia: Evaluating the Outcomes of Pompe Disease Newborn Screening

Genetic testing is incompletely sensitive for treatable inherited metabolic disorders

Variant Interpretation in Functionally Defined Patients: Lessons from methionine synthase deficiency (cblG)

Pegtibatinase, an Investigational Enzyme Replacement Therapy for the Treatment of Classical Homocystinuria: Latest Findings from the COMPOSE Phase 1/2 Trial

A Long-term Disease Monitoring Program in Patients with Long-chain Fatty Acid Oxidation Disorders

Multiple Cases of Mosaic X-Linked Adrenoleukodystrophy in Males Identified Through Newborn Screening.

Connecting the Dots (and Neurons): Unraveling the Genetic Basis of Neurotransmitters Disorders in a Large Cohort of Brazilian Patients

Expanded Clinical Phenotype and the Role of Untargeted Metabolomics Analysis in Confirming the Diagnosis of Sodium-Dependent Multivitamin Transporter Deficiency

Phenotypes of adults with MPS1 pseudodeficiency variants: Questioning the need to report in newborns

Phenylketonuria Families and Researchers Evaluating Evidence (PHEFREE), the NIH Rare Disease Consortium for PKU

Recommendations from the ClinGen Peroxisomal variant curation expert panel for variant classification in ABCD1

Expansion of the Phenotype of Thiamine Pyrophosphokinase Deficiency, A Treatable Cause of Leigh Disease, Includes Severe Neuronopathic Disease

Exploring Preanalytical Factors Impacting Plasma cell-free miRNA-451 Levels

Siblings with autism and asparagine synthetase deficiency; a phenotypic expansion of the condition's neurodevelopmental profile

Role of Muscle Biopsy and Exome Re-analysis in a Mystery Case of Lactic Acidosis

Characterization of a silent variant in a neonate with presentation of clinical variant classic galactosemia

The genetic spectrum of treatable inherited metabolic disorders identified in a large Middle Eastern biobank

Urine organic acid analysis as a potential screening test for aromatic L-amino acid decarboxylase deficiency: a retrospective investigation

Switching treatment to cipaglucosidase alfa+miglustat positively affects motor function and quality of life in patients with late-onset Pompe disease

Early Treatment with Alglucosidase Alfa is Associated with Improved Survival in Patients with Infantile-onset Pompe Disease: Data from Pompe Registry

Diverse Genetic Findings, Clinical Signs, and Newborn Screening History from a Long-Chain Fatty Acid Oxidation Disorders Gene Panel Sponsored Program

Late Onset Pompe Disease diagnoses missed by standard newborn screening procedure- The Indiana Experience

Decoding the Genetic Tapestry of Long Chain Fatty Acid Oxidation Disorders: Unveiling Novel Insights with a Dynamic Locus-Specific Gene Database

Cardiac Manifestations of Fabry Disease: Insights from a Clinic Population through Cardiac Magnetic Resonance Imaging

Reduction of Blood Phenylalanine in Participants Enrolled in OPAL, an Observational Study, Mirror Findings from the US-based PRISM Population

Metabolic profiling of cytosolic phosphoenolpyruvate carboxykinase (PEPCK1) deficiency associated with a novel homozygous missense variant in PCK1

Identifying Inherited Genetic Markers Associated with Insomnia in Women with PolyCystic Ovary Syndrome (PCOS).

Design of a multi-center randomized phase 3 clinical trial (HURCULES) evaluating OTL-203 in MPS-IH versus allogeneic hematopoietic stem cell transplantation

Trimethylaminuria: Investigations of Patient and Healthcare Provider Experiences

Establishing a Rare Registry for Inherited Metabolic Disorders at the Biochemical Genetic Lab in Pakistan: A Decade of Data

Analytical and Clinical Validation of Succinylacetone, Amino Acids, and Acylcarnitines in Dried Blood Spots on Tandem Mass Spectrometry in Pakistan

False Positive VLCAD Deficiency Screening: Proposed Effect of Testosterone

Prolonged Survival of a Patient with Combined Oxidative Phosphorylation Deficiency 11 secondary to biallelic variants in the RMND1 gene

Experiences with VLCADD in the Old Order Amish Community

Congenital Erythropoietic Porphyria - Disease Recurrence after Hematopoietic Stem Cell Transplantation

Unraveling the Complexity of the COG Complex: A Case Report on a Severe Phenotype Presentation of COG8-CDG

ACMG/AMP Variant Classification Framework in Arginase 1 Deficiency: Implications for Birth Prevalence Estimates and Diagnostics

Exit Interviews with Caregivers of Pediatric Patients with Classic Galactosemia Demonstrate the Meaningfulness of Changes in the ACTION-Galactosemia Kids Trial

Effects of liver-specific SHMT2 deletion on amino acid levels in mice

Exploring the Landscape of Phenylketonuria Education and Learning Needs of Genetics Trainees

Biallelic variants in POLG2 provides a rare molecular diagnosis in a patient with epilepsy and liver failure

Acute Liver Failure in a Toddler with Known Classic Galactosemia Due to Exposure to Lactaid Milk

Understanding the measurement of Nicotinamide Adenine Dinucleotide (NAD+) from dried blood spots through a population study

When to look for Homocystinuria: preliminary results from HCU network America's patient surveys.

Mitochondrial 3‐Hydroxy‐3‐Methylglutaryl‐CoA Synthase Deficiency Presenting with Involuntary Choreiform Movements and Dystonia

Heightened cerebral blood oxygenation changes during a cognitive task in Glut1 deficiency syndrome (G1D)

Design of the Prospective Study of the Clinical, Laboratory, and Dietary Determinates of Outcomes in Purine and Pyrimidine Metabolism Disorders

Late onset lipid storage myopathy caused by synergistic heterozygosity in ETFDH and TYMP genes

Response to Intravenous Citrate on a Patient on CKRT with Pyruvate Carboxylase Deficiency Type B (Severe Neonatal Form)

Inherited Genetic Markers for TemporoMandibular Disorder (TMD) Pain in PolyCystic Ovary Syndrome: Identifying Novel Therapeutic Targets.

A case of Ornithine Transcarbamylase Deficiency