Single Center Experience with the Massachusetts State Newborn Screening Pilot Program for Mucopolysaccharidosis Type I, Pompe Disease and X-Linked Adrenoleukodystrophy

Increased Identification of Symptom-Free Males with Pathogenic Variants in the ABCD1 Gene

AN OVERVIEW BETWEEN THE CORRELATION OF BONE MANIFESTATIONS AND THE VARIANTS OF GBA GENE IN GAUCHER DISEASE

Real-World Clinical Profiles of Patients With Alpha-Mannosidosis: Baseline Evaluations From the SPARKLE Registry

Head-To-Head Trial of Pegunigalsidase Alfa vs. Agalsidase Beta in Fabry Disease: Phase 3 Randomized, Double-Blind, BALANCE Study 2-Year Results

Long-Term Safety and Efficacy of Pegunigalsidase Alfa Administered Every 4 Weeks in Fabry Disease: 2-Year Interim Results from BRIGHT51

juMPStart: Phase 1, Open-Label, Dose-Escalation Safety and Efficacy Gene Therapy Study Evaluating HMI-203 in Adults with MPS II

pheEDIT: A Phase 1, Open-Label, Dose-Escalation Safety and Efficacy Gene Editing Study Evaluating HMI-103 in Adults with Classical PKU

GENETICS PREVALANCE OF CYSTINE STONE: A 6 YEAR LONGITUDINAL COMPARISON

The Impact of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency on the Family

X-linked Adrenoleukodystrophy After Implementation of Newborn Screening: A Reference Laboratory Perspective

Measuring Non-reducing Terminal Glycosaminoglycan Fragments increases specificity and differentiates Mucopolysaccharidosis Type I (MPS I) from Mucopolysaccharidosis Type II (MPS II)

Congenital Erythropoietic Porphyria: Variable Age of Onset of Porphyrinuria, an Indicator of Disease Severity and Correlation With Genotype

First-in-human Phase 1/2 trial of intravenous FBX-101 with Cord Blood Transplantation increases GALC, brain and motor development in Infantile Krabbe

Screening for disorders of GABA metabolism: Integration of sequencing and metabolomic screening supports early diagnosis and expands access to care

Results of an Open-label, Single-Center, Clinical Study Evaluating the Safety and Tolerability of Pentosan Polysulfate Sodium in Mucopolysaccharidosis I Subjects

Donor Organ Failure: The Importance of Donor Heterozygosity in a Case of Primary Hyperoxaluria Type 1

Clinical Availability of Functional Assays: Identifying Assays at Risk and Pathways to Ensure Appropriate Patient Care

MEXICAN CLINICAL AND MOLECULAR REGISTRY OF MUCOPOLYSACCHARIDOSIS TYPE VII

Use of Growth Hormone in a Patient with Glycogen Storage Disease Ia: A Cautionary Tale

Long-Term Follow-Up of Cipaglucosidase Alfa/Miglustat in Ambulatory and Non-Ambulatory Patients with Pompe Disease: An Open-Label Phase I/II Study (ATB200-02)

People and families affected by GSDIa: An analysis of narrative accounts written by caregivers and individuals living with GSDIa

The Clinical Utility of Plasma Lyso-Gb3 in the Diagnosis of Fabry Disease in Infants and Adults

Next Generation Sequencing in the Diagnosis of Acute Hepatic Porphyrias (AHP): Unraveling the Molecular Basis of AHP in Brazilian Patients

Sapropterin Therapy in DHPR Deficiency: Overcoming Barriers in theTreatment

Severe central apnea in two siblings with ALG8-CDG

Analysis of Glycosaminoglyans in Biological Fluids Reveals Diverging Trends in Heparan Sulfate, Dermatan Sulfate and Chondroitine Sulfate Concentrations with Age

Improved Neurocognitive Outcomes in Neuronopathic Mucopolysaccharidosis Type II: A Case of Early Hematopoietic Stem Cell Transplant

The Effects of the Pharmacological Chaperone Sepiapterin on Phenylalanine Hydroxylase Activity of Common Variants in Phenylketonuria

Expanding the differential for 2,3-dihydoxy-2-methylbutyric aciduria

Fabry Disease: Genotype/Phenotype Correlations for 17 Novel GLA Mutations By GLA Activity & Plasma Lyso-Gb3 Levels

Systematic Literature Review of the Prevalence and Severity of Somatic Comorbidities in Adults With Phenylketonuria

Correlation of Alpha-glucosidase Activity with Genotype: Retrospective Review of Infants Tested Following an Abnormal Newborn Screen

Assessment of the Impacts of Sample Matrix on Blood Acylcarnitine Determinations

Estimating the carrier frequency and prevalence of inborn errors of propionate and cobalamin metabolism using population databases

Atypically Mild Ethylmalonic Encephalopathy Expands Phenotypic Spectrum

Masked by Chronic Substance Abuse, and Blindsided by a Multi-Enzyme Complex Deficiency: An Intriguing Case Report

Hypoglycemia as an Initial Presentation of Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) Syndrome

Retrospective evaluation of amino acid ratios for screening and diagnostic utility for pyruvate dehydrogenase complex deficiency(PDCD) and other mitochondrial disorders(MtDs)

Reducing Delays of Dextrose Administration in Patients in Acute Metabolic Crisis

Real-World Major Clinical Events and Healthcare Resource Use Among Patients with Long-Chain Fatty Acid Oxidation Disorders in the United States

A next generation sequencing strategy for a comprehensive molecular diagnosis in Chronic Lymphocytic Leukemia: Mexican Experience

The Status of Germline Variants of Unknown Significance in Minorities: Middle Eastern Patients with HBOC

Pharmacogenetic profile for NUDT15 and TPMT in a Peruvian population with pediatric acute lymphoblastic leukemia

Involvement of MLH1 and MSH2 genes in hereditary susceptibility to CRC in the Moroccan population

Correlation between clinico-biological elements and the type of BCR-ABl transcripts in chronic myeloid leukemia

Novel frameshift MLH1 germline mutation in a Moroccan Lynch syndrome family

The Expression Profile of ABCB11 Gene in Hepatocellular Carcinoma and Its Association with Clinical Outcomes

Establishment of a novel functional assay to test ATM Variants of Uncertain Significance

Distribution of Variants and Tumor Presentation in Pediatric Patients Diagnosed with Hereditary Pheochromocytoma Paraganglioma Syndrome

The Prevalence of RUNX1 Gene Alterations in De Novo Adult Acute Myeloid Leukemia Patients

Recurrent Somatic Copy Number Alterations and Their Association with Gene Expression Levels on Cancer Genes in Ovarian Serous Cystadenocarcinoma

Creation of the Ontario Hereditary Cancer Research Network (OHCRN)

Association of high FASLG gene copy number in Burkitt lymphoma with reduced survival probabilities

Three-Dimensional Nuclear Telomere Remodelling Defines Mechanisms of Recurrence in Gliobastomas

Characteristics of Participants Who Opt to Receive Secondary Findings in SPARK

Cascade testing with comprehensive multigene panels for hereditary cancer identifies unexpected findings in relatives

Reanalysis of Intronic Variants Reveals Novel Likely Pathogenic DICER1 Splice Variant in Pleuropulmonary Blastoma Proband

Spectrum of Genetic Alterations for Hereditary Paraganglioma-Pheochromocytoma Syndrome Testing: Eight-Year Experience from a Single Diagnostic Laboratory

ATM and PALB2 Variant Curation Guidelines Progress Update: ClinGen Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel

Development and validation of an NGS assay for the detection of clinically actionable genetic variants in DPYD and UGT1A1

Prospective Longitudinal Validation of a Breast Cancer Risk Prediction Model in a Cohort of 130,058 Individuals

Feasibility of a Traceback Approach to Facilitate Genetic Testing in the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study

A GENOME-FIRST APPROACH TO GERMLINE CHEK2 CANCER RISK IN THE GEISINGER AND UK BIOBANK COHORTS

Variant Overlooked: A Partial Deficiency TP53 Allele that Skirts Interpretation Criteria

Identification of Novel Variant in WT1 Gene in African-American Girl with Denys-Drash Syndrome

Feasibility and Initial Participation in Traceback Cascade Screening Programs for Ovarian Cancer Implemented at Three Integrated Health Systems

Detection of Polysomy 12 in Soft Tissue Tumors - Clinicopathological and Fluorescence in Situ Hybridization (FISH) Studies of Five Cases

Discerning the Meaning of Cancer Predisposition Variants in a Pediatric Cancer Cohort

Germline Variants in Genes Associated with Parkinsonism in Cancer Patients: a Case Report

Comprehensive Functional Analysis of CHEK2 Variants: A Novel Approach to Classify Hereditary Cancer Syndrome Variants of Uncertain Significance

Evaluation of PMS2 gene variant c.2182_2184delinsG by NGS in a Brazilian sample. How Long-Range PCR can solve homology?

The ClinGen ENIGMA BRCA1/2 Expert Panel: a dynamic framework for evidence-based recommendations to improve classification criteria for variants in BRCA1/2

Diagnostic dilemma in a pediatric high grade brain tumor with the ETV6-NTRK3 gene fusion

Colon cancer is uncommon in Lynch sydnrome patients having colonoscopy with chromoendoscopy

ClinGen Somatic and CIViC collaborate to comprehensively evaluate somatic variants in cancer

BRCA1 Germline Variant Driving a Case of Colon Cancer

Identification of PALB2 variants and associated cancers in a large, unselected healthcare population

Looking beyond Cancer Risk: Additional Implications of Hereditary Cancer Testing

Incidental findings in FH and SDHA genes - navigating cancer risk assessment and follow-up recommendations

Microsatellite Instability and High Tumor Mutational Burden is Concordant with Loss of Mismatch Repair Proteins

Discrepant Germline Genetic Testing for Inherited Bone Marrow Failure Syndrome in a Patient with Myelodysplastic Syndrome

Mosaic Li Fraumeni Syndrome Identified in Patient with a Previously Presumed Germline Variant Following Preimplantation Genetic Testing: A Case Report

Integrated Analysis of Cell-Free DNA for the Detection of Malignant Peripheral Nerve Sheath Tumors in Patients with Neurofibromatosis Type 1

What's Trending: Comparing Variant of Uncertain Significance (VUS) Rates in Cancer Predisposition Genes Over Time in Black and White Individuals

Genetic, pharmacogenetics and outcomes in a cohort of pediatric acute myeloid leukemia patients in two reference centers from Colombia.

NGS assay for simultaneous screening of DNA and RNA provides a comprehensive solution guiding clinical management of ALL patients

Unfavorable Disease Progression in patients with Chronic Myeloid Leukemia and Concurrent t(6;9) translocation (DEK-NUP214 fusion) or inversion 16

Genome mapping for causative familiar association in polycystic ovarian syndrome in Arabian Women

A Male Patient with mild Osteopathia Striata with Cranial Sclerosis, Expanding The Phenotypic Spectrum

Clinical and MRI Correlations in GM1 Patients: Finding Biomarkers to Predict Treatment Response with Gene Therapy

QRICH1-related disorder: Phenotype expansion versus blended phenotype

Clinical Whole Genome Sequencing for a Highly Consanguineous Population in Low-Resource Settings-Experience from an Academic Medical Center in Pakistan

TPRV6 Related Disorder in a Patient with Suspected Osteogenesis Imperfecta (OI)

Mosaic Variant in RHOA in an Adolescent with a Multisystem Disorder Composed of Congenital and Progressive Anomalies

Determining the impact of rare canonical splice site variants: A comparison of functional and in silico methods

KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon

Expanding the Differential of Arthrogryposis: A Neonatal Presentation of Loeys-Dietz Syndrome

Correlating UBE3A enzyme activity with clinical severity in Angelman syndrome

QTc Prolongation in Rett Syndrome: Correlation with Genotype

Population based reporting of ACMG78 secondary findings using Semi-Automated Variant Interpretation software for variant prioritization and curation

Kidney Features in Patients with a Molecular Diagnosis of Birt-Hogg-Dubé Syndrome: A Case Series

Heterozygous loss-of-function variants in IFT140 are associated with polycystic kidney disease

The Influence of Monogenic Kidney Disorders on the Risk of Kidney Transplant Rejection

Phenotypic Insights into Newly Established Moderate Effect Genes for Autism Spectrum Disorder

Updated clinical practice guidelines for managing children and adults with 22q11.2 deletion syndrome

Functional Analysis Provides Insight into Missing Heritability

Use of population data to empower patient organizations and improve advocacy for rare disease therapeutics

Biallelic Variations in ATP13A2 Manifesting with a Complicated Motor Neuron Disease Phenotype

Triple molecular diagnosis of Wolf Hirschhorn syndrome, 20p duplication syndrome, and Frontotemporal dementia and/or amyotrophic lateral sclerosis.

MCF2 Missense Variant in a Patient with an Aarskog-Scott Syndrome-like Phenotype

Genotype-Phenotype Correlations in a Female With a Chromosome Xp11.23 Deletion including PORCN and EBP

Molecular Basis of Adducted Thumbs Syndrome in the Old Order Amish Community

Prevalence of malignant hyperthermia symptoms in patients receiving RYR1 results through a population genomic screening program

Comparison of diagnostic outcome amongst different ethnic backgrounds in UDN participants at the University of Miami Clinical Site

Association of heterozygous variants in the GBA gene with lewy body dementia

Report on a Patient with a 28 Mb Chromosome 2p Duplication at 2p22.2p14 The Largest 2p Duplication Described to Date

Whole-Genome Sequencing in the NICU: Improving Healthcare through Precision Medicine

Cherubism in Two Generations of an African American Family

Retrospective Analysis of the Outcomes of Genetic Testing in Patients Suspected to Have Hereditary Hearing Loss and Deafness

Evaluating the utility of gene expression profile testing in pediatric melanoma: a Case Series

Development of a Maternal-Fetal Questionnaire to Aid in the Improvement of Prenatal Care for Lymphatic Anomalies

Case Report: Phenotypic Features Among Four First-Degree Relatives with 17q11.2 Microduplication Syndrome

Skeletal Dysplasia Due to a Known Variant of the MAP3K7 Gene with Unique Findings in a Newborn

Clinical Characteristics and Management of Patients with Mucopolysaccharidosis II (MPS II) in the United States from the Hunter Outcome Survey

A homozygous recurrent in-frame deletion in MED22 causes a novel neurodevelopmental disorder

Biallelic pathogenic variants in ITFG2 are associated with a a syndromic megalencephalic neurodevelopmental syndrome

Recurrent variants in subunits of the Human Mediator complex affect brain development and lead to severe neurodegenerative diseases

Functional Studies in ADAMTSL2-Related Geleophysic Dysplasia Provide Insights Into Pathogenesis and Potential Treatment Targets

Initial Characterization of a Novel Mouse Model of Autosomal Dominant LZTR1-Noonan Syndrome

Causes of death and associated factors in patients with trisomy 18 syndrome and long-term survival

Seizures in trisomy 18: prevalence, description, and treatment

Aphallia: A Complex Case of a Rare Anomaly

X-linked Inheritance and it's exceptions: Lessons of X-Inactivation and Cellular Interference

Whole-exome analyses of non-syndromic hearing loss patients from India reveal a wide spectrum of known and novel mutations

Novel Partial MBD5 Duplication in A Patient Expands and Refines the Phenotypic Spectrum of 2q23.1 Duplication Syndrome

Ethnically-unique disease burden and limitations of current expanded carrier screening panels

Microcephaly in Atypical Silver-Russell Syndrome Caused by Defects in PLAG1

Complete Resolution of Genes with Highly Homologous Gene Family Members or Pseudogenes Using Long-read PacBio HiFi Sequencing

CIPA presented as Fever of Unknown Origin in a patient with a novel variant in NTRK1

Novel Molecular Diagnoses in Individuals with Holoprosencephaly and Prior Negative Sequencing

Seeing Double - A case series of patients with multiple genetic diagnoses in a small genomics clinic

The Rare in the Common: Unsuspected Fabry Disease

Long-Term Outcomes of Adult Siblings with TRIT1-related Disorder

TCOF1-related Treacher Collins syndrome: Report of a clinically unaffected parent with mosaicism

Testosterone Effects on Short-Term Physical, Hormonal, and Neurodevelopmental Outcomes in Infants with 47,XXY/Klinefelter Syndrome: The TESTO Study

A Truncating Variant in RFX7 Causing Developmental Delay and Intellectual Disability.

NBEA-related neurodevelopmental disease: expansion of the phenotype and second patient with clinical images

Cognitive Decline, Parkinson-like Features, and Mutism lead to Diagnosis of MECP2 in a 46 Year Old Male

Efficiency of Genome Sequencing in Establishing Molecular Diagnosis in Undiagnosed Patients

The Diagnostic Odyssey: A Review of Two Patients with Adult Polyglucosan Body Disease

Variants in Cohesin Release Factors WAPL, PDS5A, and PDS5B Define a New Class of Cohesinopathies

Williams syndrome: An infant with an unusually large deletion at 7q11.23 and unique clinical presentation

A Novel Heterozygous Frameshift Variant in ITIH5 Associated with Type II Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome

Association of Fetal APOL1 Risk Variants with Adverse Maternal Outcomes in Preeclampsia

Variants in Obesity-Related Genes in a Population with Early-Onset Obesity

Uncovering Rare Obesity Genetic Testing Program: Utility of Genetic Testing in Pediatric and Adult Patients with Obesity

Phenotypic Profiles of Rapid Whole Genome Sequencing in Pediatric Patients: a Single Center Study

Atypical Sotos Syndrome with Normal Length and Late Hyperinsulinemic Hypoglycemia Presentation

Nutritional Markers Of Histamine Intolerance in Ehlers-Danlos Syndromes

Considerations of Genetic Testing in Autism Spectrum Disorder: Lessons learned from 10 years of experience in Mexico

Rapid Genome Provides Unexpected, Highly Actionable Answer for Critically Ill Patient

Yield of Different Genomic Testing Approaches in Infants with Congenital Heart Disease

Novel Biallelic Variants in the CSMD1 Gene in a Child with Cerebellar Ataxia and Developmental Regression: A Case Report

Establishing preclinical efficacy for the first AAV gene therapy for GSD IX γ2 across stages of progressive liver disease

Comprehensive Newborn Hearing Screening in Generation Genome through SEQaBOO (SEQuencing a Baby for an Optimal Outcome)

More Compassion Please: Assessing Parental Perceptions After Receiving a Diagnosis of Down Syndrome

Real World Experience of Velaglucerase Alfa in Children Under 4 Years of Age with Gaucher Disease: A Retrospective/Prospective Study

Highlights in the treatment of Fabry's disease in female pediatric patients

The ClinGen Pharmacogenomics Working Group: Developing a Framework for Gene-Drug Response Clinical Validity

Never Two Late: A Dual Diagnosis of Noonan Syndrome and Hypophosphatasia in an Adolescent Patient with Unusual Presentation.

Biallelic Loss-of function Variants in LDB3 Deleting the Long Form of the Protein Lead to Neonatal Left Ventricular Noncompaction Cardiomyopathy

Characterization of Free Sialic Acid Storage Disorder Clinical Presentations

Adverse outcome in FAM111A variant: a case report

SCANs not Separate Autosomal Recessive Spinocerebellar Ataxia group? - Toddler with Homozygous Novel Variants for SCAR2, SCAR23 and Axonal Neuropathy

A Case of Multiple Hemangiomas and Arteriovenous Malformations in a Patient with Known Greig Cephalopolysyndactyly Syndrome.

Phenotypic and genotypic spectrum of Arthrogryposis Multiplex Congenita using Next Generation Sequencing: Experience from a tertiary care centre in India

Cantu Syndrome: Expanding the Phenotype of this Rare Autosomal Dominant Condition

A Clinical-Translational Model of Leukoencephalopathy with Calcifications and Cysts

Urine Glucose Tetrasaccharide as a Potential Pharmacodynamic Biomarker for the Development of New Treatments for Glycogen Storage Disease Type III

Vestronidase Alfa for the Treatment of Mucopolysaccharidosis VII (MPS VII): Updated Results from a Novel, Longitudinal, Multicenter Disease Monitoring Program

Validation of Myeloid Neoplasm Next Generation Sequencing Panel for Acute Myeloid Leukaemia and Myeloid Malignancies in Singapore

Mitochondrial Dysfunction in Rett Syndrome: Searching for Biomarkers

Heterozygous ACTB Pathogenic Variant Causing Baraitser-Winter Syndrome Presenting With Tracheal Ring, Intestinal Atresia, and Neonatal Diabetes

Persistent growth-promoting effects of vosoritide in children with achondroplasia for up to 3.5 years: update from Phase 3 extension study

Persistence of Growth Promoting Effects in Children with Achondroplasia Over Seven Years: Update from Phase II Extension Study with Vosoritide

The eXtraordinarY Babies Study: Prevalence of Congenital Anomalies and Medical Conditions Among Neonates and Infants with Sex Chromosome Trisomies (SCT).

GestaltMatcher Database - a FAIR database for medical imaging data of rare diseases

Long Term Efficacy and Safety of Carglumic Acid Treatment in Patients with Organic Acidemia in East Asia Population

Mutation spectrum of Wilson disease in Taiwan

Novel Homozygous GLDC variants causing Late-onset Glycine Encephalopathy: A Case report and Updated Review of the Literature

Looking locally for answers: A case report highlighting cellular localization assays of UBE3A to demonstrate pathogenicity in Angelman syndrome

Genetic Testing in an Adult Neuromuscular Clinic: Diagnostic Yield and Testing Strategies

Diagnostic challenges in diverse populations: When genetic testing doesn't tell the full story

Deep phenotyping of Kabuki syndrome to create meaningful and specific biomarkers and outcome measures for clinical trials

Chromosome 6 maternal uniparental isodisomy in a child with global developmental delay

A novel case of a female carrier of a Fragile X full expansion with methylation on the normal allele

SeqFirst: impact of a precise genetic diagnosis on end-of-life decision making in the NICU

Diagnostic Yield and Clinical Utility of Whole Exome Sequencing in Pediatric Cardiomyopathy

Esophageal Atresia with or without Tracheoesophageal Fistula: Genetic Evaluation and Clinical Outcomes

A novel TGFBR1 splice-site variant identified in a family with Loeys-Dietz syndrome and variable aortic phenotypes

A Familial Case of CAMK2B Mutation: Two Brothers with Severe Intellectual Disability Inherited from Healthy Father

Novel Skeletal Anomalies with KMT2A Pathogenic Variants: Expanding the Phenotypic Features of Wiedemann Steiner Syndrome

Experience in Delivering Free of Cost Gene Therapy for Spinal Muscular Atrophy Using the Managed Access Program In Pakistan

Moving beyond cascade genetic testing in first-degree relatives by using genealogy data to identify and genetically test distant relatives

Missing heritability for supravalvar aortic stenosis identified in long range enhancer for elastin

Ectodermal Dysplasia- A Case Report

Case Report: PHACE-Like Syndrome With TMEM260 Compound Heterozygous Variants

Diagnostic Yield of Genetic Testing for Non-Syndromic Early-Onset Obesity in a Multidisciplinary Pediatric Obesity Clinic

A de novo Xq13.2-13.3 Duplication Associated With Non-Syndromic Intellectual Disability

Clinical Features and Diagnostic Management of Infant with Encephalocraniocutaneous Lipomatosis and Congenital Hypothyroidism

Natural Medical History Study of Patients with STAC3 Disorder from a Single Center

STAG2 is a Novel Genetic Cause of Atelencephaly

An Exploration of the Neurodevelopmental Phenotype of Two Patients with 48,XXYY During Infancy

SINO Syndrome Associated with Heterozygous KIDINS220 Variants: A More Severe Presentation and Maternal Mosaicism

Characteristics and Genetic Testing of Infants with Neonatal Encephalopathy Not Due Hypoxic Ischemic Encephalopathy (HIE)

De Novo GATA4 deletion in a 46,XX Boy with Hypospadias and Pulmonic Valve Stenosis

Sporadic and Inherited Genetic Variants Causing a Blended Phenotype in a Patient with Kabuki Syndrome and Loeys-Dietz Syndrome, Type 3

Expanding the Phenotype of Autosomal Recessive Limb-Girdle Muscular Dystrophy-3: A Case Report of a Patient With Autism Spectrum Disorder

Identification of novel proteins for venous thromboembolism by integrating genome-wide association data and human blood proteomes

Homozygous ALDH18A1 Variant in Siblings Adds to Understanding of Early Disease Progression in Autosomal Recessive Hereditary Spastic Paraplegia Type 9B

Novel de novo Intronic KAT6B Variant in 9-year-old Female Adds to the Wide Phenotypic Spectrum of KAT6B Disorders

Health-related quality of life in achondroplasia: findings from LISA, a multinational and observational study in Latin America

Oligogenic Basis of Premature Ovarian Insufficiency

Cerebellar Ataxia with Hypogonadism: Clinical Clues to Diagnosis Adult PMM2-CDG Patients

Harnessing the Power of Genomics: Development of a Web-Based Education Portal in Genomic and Personalized Medicine for Non-Expert Physicians

A De Novo Gain-of-Function ANO5 Variant in a Patient with Anoctaminopathy5-related Muscular Dystrophy Challenges the Skeletal/Muscular Phenotype Dichotomy into Question

Discovery of the phenotypic landscape and mechanistic understanding of NAA10-related and NAA15-related neurodevelopmental syndromes, using mouse models and iPSCs

Small molecule, high throughput drug discovery for Kabuki Syndrome

WES identifies a pathogenic variant in NF1 gene in an Iranian girl with Neurofibromatosis-Noonan syndrome and growth deficiency

Expanding the Phenotype of DREAM-PL: A Case Report

Case Series Evaluating LZTR1 Variant Within One Family

The Utah NeoSeq Project: Developing and Implementing Genomic Sequencing in Acute Neonatal Care

Developing Bayesian graphical models to provide continuous, probabilistic variant interpretation

GUÍA application: Effectiveness in enhancing communication of genomic results in diverse, multilingual populations

Five-Year Retrospective Case Series of Genetic Findings in Patients with Planned Surgical Interventions for Cardiac Left-Right Patterning Differences

Is 22q11.2 deletion syndrome truly less common in Black patients?

Phenotypic Findings Associated with Nested 22q11.2 Deletions

'Don't Paint Us All with the Same Brush': Information Needs in Adolescents with Differences of Sex Development

XLH Molecular Diagnoses and the PHEX Gene Variant Landscape: Sponsored Hypophosphatemia Gene Panel Testing Findings from 2019 versus 2022

Narcolepsy in Ehlers-Danlos syndrome

Pancraniosynostosis and Macrocephaly in a Four-Year-Old Male Without Molecular Diagnosis: Treated but Unsolved

An Isolated ELN Gene Mutation in a Patient with a Complicated Presentation of Hypermobility

RNA-sequencing for Diagnosis and Novel Gene Discovery in Heritable Thoracic Aortic Aneurysms and Aortic Dissections (HTAD)

Characterization of Childhood Neurodegeneration and Associated Ataxia in UBTF-Related Disorder

A single institution analysis of in-house whole genome sequencing within pediatric and neonatal intensive care units (The PISCES Study)

PPA2 Deficiency Phenotype

The Impact of No-Cost Testing Programs for Inherited Retinal Degeneration on Post-Testing Follow-up Genetic Services

Survival in Eteplirsen-treated vs Duchenne Muscular Dystrophy Natural History Patients: An Indirect Treatment Comparison Using Real-world Data

Multiple Intestinal Atresia With Combined Immunodeficiency, a New Kid in the Block

First genetically confirmed case of Schinzel-Giedion syndrome from India and literature review of neuroradiological findings

The NIH INCLUDE Project: An Opportunity to Advance Quality-of-Life Goals for a Diverse Population with Down Syndrome Through Research

Case Report: NFIA-related Disorder Caused by Inherited Missense Mutations Leading to Variable Presentations Among Family Members

Two New Cases of 9q21.13 Microdeletion Syndrome and Review of the Literature

Heterozygous variant of TGFB3 in a patient with an atypical phenotype of Loeys-Dietz Syndrome

TSC1/TSC2 Mosaicism is Found in ~13% of Individuals with Tuberous Sclerosis and is Associated with a Distinctive Phenotypic Severity

A Functionally Uncharacterized, Novel GRIA2 Variant: Advances in Targeted Epilepsy Management

Essential Role of Genetic Counseling in a Multidisciplinary Immune Dysregulation Program

Characterizing clinical actionability in the context of polygenic risk assessment

Beyond SMN1: review of genotype-phenotype correlation in individuals with >=4 SMN2 copy numbers

Uniparental Disomy of Chromosome 19 in an Individual with Oculocutaneous Albinism, Neurodevelopmental Disorder, and Failure to Thrive

Adjusted Polygenic Score: Translation of a New Concept for Cardiovascular Disease Prevention and Management

Expansion of the Phenotype in Rubinstein-Taybi Syndrome Type 2 with the Largest Familial Case

Audit of Therapy for Lysosomal Storage Disorders at a Genetic Clinic in Mumbai during Covid-19 Pandemic

Long-Chain Fatty Acid Oxidation Disorder Genotypes, Clinical Signs and Symptoms, and Newborn Screening History from a Gene Panel Sponsored Program

Modeling Cellular Evidence: Scalable Approaches for Generating, Validating and Incorporating Data from High-Throughput Functional Assays to Improve Clinical Variant Interpretation

Triple diagnoses with overlapping phenotypes: recommendations and reflections

Evaluating the Utility of a New Pathogenicity Predictor for Pediatric Cardiomyopathy

A case of ultra-rare, X-linked HSD10 mitochondrial disease in a female patient.

Incorporating Regulatory Information Improves Interpretation of Noncoding Variants

Large Deletion of 5q12 With Dysmorphic Features, Poor Growth, Delays, Behavioral Anomalies, and Seizures: A Case Report and Literature Review

A Case of Niemann-Pick Disease Type C from Suspected Uniparental Disomy of Chromosome 18

Compound Heterozygosity for loss-of-function variants in GDF1 provides a molecular diagnosis in a patient with Heterotaxy Syndrome

Genetic Testing Strategies for Rare and Undiagnosed Neurogenetic Conditions: Utilization of Exome Sequencing, Metabolic, and Panel testing

Single vs. Dual Disease Causing Variant Load in a Pediatric Cohort with Congenital Anomalies and Cancer

Wilms tumor in a patient with FBXW7-related neurodevelopmental syndrome

A Comprehensive Investigation of the Anthropomorphic Measurements in males with 47, XXY & the Impact of Early Hormonal Treatment (EHT)

A rare case of Ferguson-Bonni Neurodevelopmental syndrome with cleft palate

IMPORTANCE OF THE DETECTION OF GENETIC DISEASES ASSOCIATED WITH CARDIOVASCULAR RISK IN PEDIATRIC AGE

Rates of cardiomyopathy in probands and their family members from a large, unselected healthcare cohort

Clinical burden and health behaviors associated with genomic screening for homozygous HFE C282Y variants in an unselected health care system

The Youngest Son of Abraham Lincoln: A Possible Case of 22q11.2 Deletion Syndrome

Its time to listen to the families; a disease concept model for Gould Syndrome.

Episodic irritability in an ultra-rare genetic disorder associated with NACC1: imperative to increase awareness and formulate better therapeutic interventions

A Rare Combination: Novel Presentation of Achondroplasia with a Complex Chromosomal Rearrangement

Characterization of Electronic Health Record Features in Critically Ill Neonates with Genetic Diagnoses

Evidence for a Pathogenic Variant in a Patient with Generalized Arterial Calcification of Infancy

Importance of Neuromonitoring during Acute Crises in Small Molecule and Energy Deficiency Neurometabolic Disorders - Data over 10 Years

Incidental finding of MECP2-related Disorder in a Male Infant With Chromosome 15q11.2 Microdeletion (Burnside-Butler) Syndrome

Clinical genome sequencing and targeted mouse modeling in nonverbal or minimally verbal individuals with autism spectrum disorders and neurodevelopmental delays

Genetics Bridge The Link Between Mitral Valve Prolapse, Arrhythmia and Sudden Death!

Fifth Case of MYH11-Associated Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Identified in Patient with Missense Variant and Whole Gene Deletion

Dual Diagnoses of Mosaic SRY Deletion and HSD17B3 Deficiency in a Patient with Discordant Fetal Sex

Characterization of Clinically Diagnosed Androgen Insensitivity Syndrome (AIS) and its Mimics

Atypical presentation of central precocious puberty in a patient with RHOA-related disorder

ELEVATED LEVELS OF CXCL16 IN SEVERE COVID-19 PATIENTS: EFFECTS ON MORTALITY

Two siblings with novel compound heterozygous variants in the EXTL3 gene

Project Searchlight Study Methodology: Real-World Evaluation and Validation of an Algorithm to Identify Persons at Risk of Gaucher Disease

A 7.4 Mb Duplication of 6p22.1-22.3 in a Cognitively Normal Adult with a History of Multiple Congenital Anomalies

Expanding the Phenotypic Description and Allelic Heterogeneity of the KAT6B-Related Disorder

A Case Report of an Egyptian Family with Hypercholesterolemia Diagnosed with a Unique LINE-1 Insertion in the LDLR Gene

Long-term safety and sustained functional benefit in patients with DMD 4 years post-treatment with delandistrogene moxeparvovec: a Phase 1/2a study

Diagnoses Made Following Non-Diagnostic NGS testing: One UDN Clinical Site's Experience

Gene therapy base editors reshape single-molecule chromatin architecture of γ-globin promoters

Impact of genetic counseling using GUÍA on diverse families' understanding of genomic results: finding from the NYCKidSeq randomized controlled trial

Epidemiology of X-linked Adrenoleukodystrophy Beyond the Western World: a Systematic Review of the Literature

Novel Variant in DSP Associated with Lethal Acantholytic Epidermolysis Bullosa and Bradyarrhythmia

Expanding the Phenotypic Spectrum of Currarino Syndrome with Cardiac Anomalies

Serial Amnioinfusion for Fetal Angiotensin Converting Enzyme Deficiency: A Case Report

Creating Developmental Growth Curves and Milestone Charts for Infants with Sex Chromosome Trisomy Using Data from the eXtraordinarY Babies Study

A Comprehensive Investigation in the Anthropomorphic Measurements of Males with 47,XXY (Klinefelter Syndrome) from 6-18 years

A Homozygous Novel Pathogenic Variant in SYNJ1 and its Clinical Presentation

Role of CPK in Differential Diagnoses of Isolated Elevated Hepatic Transaminases to Uncover Occult Myopathies

Proof of Concept Core Biopsy Technique of Vascular Malformations for DNA and RNA Sequencing with Novel Identification of PKD1 Variant

The contribution of mosaicism to genetic diseases and presumed de novo mutations

Mosaic Potocki-Lupski Syndrome Due to a Supernumerary Ring Chromsome Containing RAI1

Gabriele-de Vries syndrome: exploring the phenotype of a recently described genetic disorder

WGS/WES as Unique Diagnostic Tool for the Genetic Screening of Patients with Craniosynostosis

A Homozygous POU3F2 Polyproline Tract Expansion Is Associated with Severe Psychomotor Delay, Developmental and Epileptic Encephalopathy, and Ichthyosis

Polygenic risk scores improve 10-year risk prediction of coronary artery disease in individuals at borderline and intermediate clinical risk

Not All Severe Combined Immunodeficiency Patients are Created Equal and When Rapid Genetic Testing Matters

Cortical Brain Malformations in Two Siblings with Poretti Boltshauser Syndrome: A Possible Phenotype Expansion

Resolving missing heritability by iterative multidisciplinary and organ-specific reanalysis

Quantification of the Surgical Burden Associated with Achondroplasia: a Comprehensive Review of the Literature

Objectives and Design of the Acorn Study: A Non-Interventional Study Evaluating Long-term Safety in Achondroplasia Patients Treated with Vosoritide

Vosoritide Therapy in Patients With Achondroplasia: Early Experience and Practical Considerations for Clinical Practice

Kabuki syndrome and Metachromatic Leukodystrophy, dual diagnosis in a female patient: a case report

Identification of novel variants and phenotypic expansion in OGT-CDG

Broadening the Phenotype of ABL1-Associated Disorder

Distinctive facial features, cleft palate, talipes equinovarus, genital anomalies and 2,3 toe syndactyly in individuals with prenatal opiate exposure

Unraveling the Phenotypic Consequences of Variation in the TTN Gene

Atypical presentations of Shwachman-Diamond syndrome diagnosed by whole exome sequencing and literature reivew

Somatic RUNX1 Variants in Hematologic Malignancy: Could they be germline?

Calypso: a web-based system for team-based, longitudinal genomic care

De novo missense variants in ZBTB47 cause a neurodevelopmental phenotype of developmental delays, seizures, and possible movement abnormalities

Plasma Lyso-Sphingomyelin, Biomarker for Acid Sphingomyelinase Deficiency: Correlations with Baseline Disease and Response to Olipudase Alfa Treatment in Clinical Trials

Variants in MED12 are Associated with Left Ventricular Non-Compaction and Arrhythmia

Expanding the neurodevelopmental phenotype of HIVEP2-related disorder

KDM5C-related X-Linked Intellectual Disability: A Review of Natural History and Expansion of the Phenotype

An apparently new brain MRI finding in Sotos syndrome: Extensively dilated perivascular spaces

Novel Genetic Variant of Weyers Acrofacial Dysostosis with Punctate Epiphyseal Calcifications From Maternal Autoimmune Disease and Review of the Literature

VUS in RHOBTB2 Gene Detected on Rapid Whole Genome Sequencing in a Patient with Worsening Seizures and Developmental Regression

Replication of Genetic Variation Associated with COVID-19 Clinical Outcomes: The GENCOV Prospective Cohort Study

Clinical and Basic Investigations into Congenital Disorders of Glycosylation: SLC35C1-CDG the Fucose Golgi Transporter

Early-Onset Psychosis - Exploring the Psychological Phenotype of DLG4-Related Synaptopathy

Phenotypic and molecular characterization of a cohort of patients with primary CoQ10 deficiency caused by pathogenic variants in COQ7

Complex Lymphatic Anomalies: Design of a Prospective Natural History Study

Newborn with 4 syndromes (Down, Turner, Xp11.22 duplication and 3q duplication) characterized by G-banding, FISH, microarray and optical genome mapping

Electrophysiological functional studies of an ATP1A3 variant in an individual with a relatively mild neurological phenotype reveal loss of function

Exploring the Effects of a Point Mutation in the 5' UTR of APC Found in a Family with Colon Cancer

Deciphering the Genetic and Molecular Mechanisms of Disorders of Sex Development in Senegalese Children in Sub-Saharan Africa

Loss-of-Function EGFR mutation in Bartter Syndrome with Neonatal Epithelial Autoinflammation

The impact of modulator therapies on lipids and fatty acids profiles in children and adolescents with Cystic Fibrosis.

Disease-Causing Variants in Inherited Retinal Diseases Genes in an Ethnically Diverse Pakistani population--Experience from an Academic Medical Center

SATB2-Associated Syndrome Severity Score: Genotype/phenotype Correlations and the SATB2 Portal

Newborn Screening for Spinal Muscular Atrophy in South Florida: The Clinical Experience

Initial Evaluation of Newborn Screening for X-Linked Adrenoleukodystrophy in South Florida

Self-Reported Genetic Testing Behaviors for Physicians Treating Pediatric Patients with Seizures of Unknown Etiology

Patients' and Parents' perspectives on the use of digital tools to deliver genetic services.

Project GIVE: Expanding Genetic Testing to Underserved Areas in the Rio Grande Valley Using a Telehealth Platform

Fragmented systems of care: An overview of Canadian health system care models for hereditary cancer syndromes

Co-Designing Genetics and Genomics Educational Modules for Community Engagement

Limitations of automated approaches to utilizing the EHR to identify high-risk patients for hereditary cancer genetic testing

Inter-Center Variation in the Availability and Provision of Genetic Medicine Services in Level IV NICUs

Characterizing Research on the Diagnostic Odyssey in the United States: A Systematic Mapping Review

Implementation of an Innovative, State-based Approach to Improving Access to Genetic Services

The Digital Genetic Assistant: Effectiveness of a Novel Patient Approach to Carrier Screening

Professionals' Perspectives on the Use of Digital Tools to Support Patient Recontact in Clinical Genetics

The Clinician-reported Genetic testing Utility InDEx in the NICU (C-GUIDETM-NICU): Quantifying Genome-wide Sequencing Utility in Neonatal Critical Care

Improving identification of patients at an increased risk of cancer within a large healthcare system

Understanding Clinician needs and preferences with respect to returned NBS results.

Establishment and Evaluation of a Cancer Family History Genomics Training for Community Health Workers

A Content Evaluation of ACGME-Accredited Categorical Medical Genetics and Genomics Residency Webpages

Use of Genetic Services Among Patients with Prostate Cancer at a Safety-Net Hospital: A Mixed Methods Study

Real-World Evidence Demonstrating Why Genome Sequencing Should Be Recommended as the First-Tier Genetic Test

Health System Direct Contact of Relatives for Cascade Testing: Reach and Initial Acceptability in a Prospective Intervention Study

What are patients' perspectives on the privacy and security of digital genomic tools? A qualitative study

Genomic Medicine and Primary Care: The Alabama Genomic Health Initiative

Effectiveness of Group Genetic Counseling Session via Metaverse

Assessing the Collaborative Relationships Among Diverse Stakeholders Working to Expand Access to Genetic Services in Puerto Rico

The need for a longitudinal digital health platform to implement large scale genomic programs

Clinical Utility of all Types of Medically Relevant Secondary findings: A Systematic Evidence Review

Effects of Hurricane Maria and the COVID-19 Pandemic on Genetic Testing at a Diagnostic Reference Laboratory in Puerto Rico

Increasing Equitable Access and Uptake for Hereditary Cancer Testing in Patients with Breast Cancer

Implementation of Genetic Inpatient Consultation Services in Pediatrics: DNA (Discover New Answers) Consult Team

Patients from Historically Marginalized Backgrounds are Referred to Clinical Genetics at Lower Rates in a Large Academic Health System

Genetic Determinism Beliefs Are Associated With Decreased Genetic Testing Utilization and Increased Willingness to Participate in Genetic Research

Reasons for Pursuing Germline Genetic Testing and Family Sharing of Results Among Young Black Women With Breast Cancer

Project FIND-OUT (Fast Infant Neurogenetic Diagnosis via Outpatient Testing): Utilization of Healthcare Claims Data to Inform Protocol Design

Partnering with patients to explore the psychosocial and socioeconomic impacts of hereditary cancer syndromes

Team-based Genetic Health Care: An Effective System of Care for Delivery of Cancer Genetic Services

Perspectives of Rare Disease Experts on Sequencing Newborns for Treatable Genetic Conditions

Clinical utility of genomic sequencing for hereditary cancer syndromes: an observational chart review

The Effect of Newborn Genomic Screening on Downstream Health Care Utilization and Costs: Evidence from the BabySeq Project

Customization and Implementation of a Tertiary Analysis Platform for Interpretation and Reporting of Germline Variants

Ensuring equity in the delivery of cancer genetic services: Identifying disparities along the care delivery continuum

Engaging primary care patients in population-based risk assessment for hereditary cancer genetic testing: Preliminary outcomes of point-of-care engagement efforts

SeqFirst: Parental perspectives on receiving results from neonatal rapid whole genome sequencing

Multi-dimensional and Longitudinal Impact of a Genetic Diagnosis for Infants in an Intensive Care Unit

User Experience on Direct-to-Consumer Genetics Testing from A Three-Generation Family and Insights into Future Genetics Testing

Workforce readiness for pharmacogenomics implementation and key elements for sustainment.

A Genome Sequencing Approach to Pharmacogenomic Profiling Across Diverse Population in a Large Health System

Continuing the continuum: Molecular and phenotypic spectrum of ACSL4 intellectual developmental disorder

Development of a Comprehensive Cardiovascular Disease Whole Genome Sequencing Test

AI-Assisted Karyotyping Improves Efficiencies at Scale in the Cytogenetics Laboratory

Validation of a Digital FISH Analysis Workflow in an Academic Reference Laboratory

SMN1 SMN2 Gene-Specific Sequencing Enhances the Clinical Sensitivity of Spinal Muscular Atrophy Diagnostic Testing

An Unusual Recombinant Chromosome 6 Derived from a Parental Double Paracentric Inversion

Unparalleled power of genome sequencing in screening ostensibly healthy newborns and children: findings from the first real-world dataset

Recognizing the Promise and Potential Pitfalls of Genomic Medicine Through Routine Rapid Whole Genome Sequencing

Beyond genomics: using RNA-seq in filter cards to unlock the clinical relevance of noncoding variation in splicing

Evaluating variants in a biobank population using structured evidence from prior classifications (PS1, PM5, and PVS1 criteria)

Expanding the Chopra-Amiel-Gordon Syndrome Clinical and Molecular Spectrum: Two Novel Deletions Involving ANKRD17

Application of ACMG/AMP variant classification guidelines to Alzheimer's disease-associated genetic variation

Somatic Overgrowth and Vascular Malformation: Clinical Utility of Expanded Panel

A novel deep intronic variant in DYNC2H1 characterized through exome reanalysis in a neonate with short-rib thoracic dysplasia type III

Evaluation of Monoallelic MUTYH Variants in Brazilian Patients: Potential Selection Bias

Diagnostic Yield and Copy Number Findings from 500 Clinical Genome Sequencing Cases

Population Genome Screening Identifies Previously Undiagnosed Disease: A Case Series

Optimization of the Diagnostic Aid PhenoVar for the Interpretation of Rapid Whole Genome Sequencing Data in Newborns in Intensive Care

Clinical RNA Sequencing to Clarify Variants of Uncertain Significance and Identify Missing Variants

A supernumerary ring 9 chromosome detected in a case with ring X variant turner syndrome.

DLG2 intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest an association with congenital anomalies and dysmorphism

Genomic and Biochemical Profile of Pseudodeficiency in Lysosomal Storage Disorders

Confirmation of complex events detected by NGS

Genetic Screening of a Reportedly Healthy Population for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer syndrome, and Lynch syndrome

SMA Carrier Screening Utilizing SNP Array Technology and Confirmatory ddPCR Reveals an Isolated SMN1 Exon 8 Deletion

Short tandem repeat expansions in the diagnosis of rare Mendelian diseases by whole genome sequencing

Evaluation of mainstream genetic testing for patients with Autosomal Dominant Polycystic Kidney Disease: early experience from the University of Chicago.

SF3B2-Related Cardiac Defects and Hirschsprung Disease without craniofacial microsomia

The nephrocyte actin and tubulin cytoskeleton networks model slit diaphragm structural defects pertaining to podocyte pathogenesis

The elephant in the shROOM: Evidence for SHROOM4 in disease remains limited and conflicting

The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions

Specifying the ACMG/AMP Variant Sequence Interpretation Guidelines for Congenital Myopathies

Diagnostic yield of copy number variants by exome sequencing versus chromosomal microarray

Investigating the Efficacy of Targeted NGS Panels with Rapid TAT for Pediatric Patients with Narrow Differential Diagnoses

Long-Range PCR and Nanopore Sequencing Method Resolves F8, GBA, CYP21A2, SMN1, and TNXB Variants Using a Single Streamlined Workflow

Genetic Testing and Screening for Spinal Muscular Atrophy in The Middle East

A Case of Hexasomy 15q due to a Tricentric Supernumerary Chromosome 15

Evaluating the Impact of Long Read Genomes in Rare Disease: A systematic analysis of 1000 HiFi Genomes

Exome Sequencing Analysis Reveals Enrichment of Variants in Known Autosomal Dominant Hearing Loss Genes in Patients With Presbycusis

Gene- and variant-specific calibration of in silico predictive models results in reclassification of 28% of missense VUS from ClinGen VCEPs

A four-way t(12;14;22;18) chromosome translocation in a patient with chronic lymphocytic leukemia/small lymphocytic lymphoma: a case report

Importance of Genomic Reanalysis to Uncover Medical Unknowns: A UDN case with phenotypic extension of spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy

A novel de novo microdeletion at 9q33.3, including LHX2, in a patient with developmental delay and autism spectrum disorder

ROH Pipeline Enables Analysis of Regions of Homozygosity Using Next Generation Sequencing Data

The Occurrence of Noncoding Variants, Copy Number Variants and Variants in Difficult-to-Sequence Genes in Over 10,000 Whole Exome Sequencing Tests

Retrospective review of no-call results by noninvasive prenatal screening and development of a multifactorial scoring to estimate redraw success

A Comparative Analysis of TEK Variants in Patients with Vascular Anomalies

Clinical relevance of mosaic variants detected from exome sequencing data.

Quad whole genome sequencing detects reciprocal copy number variants in affected siblings, consistent with familial translocation

Highly Scalable Pharmacogenomic Panel Testing with Hybrid Capture and Long-Read Sequencing

Potential Clinical Significance of Microdeletions involving both MYH6 and MYH7

Applying the 2022 Guidelines for Non-Coding Variant Classification In a Large Rare Disease Cohort

Minimizing False Negatives in NGS-based Diagnostic Testing by Optimizing Variant Filtering Strategy

Identification and accurate sizing of D4Z4 repeat units in patients suspected of facioscapulohumeral muscular dystrophy (FSHD) using optical genome mapping.

An Amplification-based, Nanopore Carrier Screening Panel Resolves Clinically-Relevant Variants in CFTR, SMN1/2, HBA1/2, HBB, and FMR1 in a Unified Workflow

Simultaneous Analysis of 50+ Different Repeat Expansions with Twist Target Enrichment and PacBio HiFi Sequencing

Mosaicism for genome wide homozygosity identified as an incidental finding in two healthy pregnant women

Validation of optical genome mapping as a laboratory-developed diagnostic test for facioscapulohumeral muscular dystrophy type 1

Application of CRISPR-Cas9 and next-generation sequencing to resolve highly homologous genes in the human genome

Genome Sequence Re-Analysis Reveals De-Novo FBXW7 Canonical Splice Variant in Newly Described Neurodevelopmental Syndrome

The recurrent 15q11.2 deletion: A single laboratory experience

Evaluating novel dosage sensitivity predictors for inclusion in the classification of recurrent copy number variants

Establishing normative collagen X levels in blood in individuals with achondroplasia: application to understand growth

Genetic findings from multi-gene panel for primary ciliary dyskinesia.

Interrogating the pathologic noncoding genome with tissue-specific multiomics

Retrospective Review of Genetic Testing and Variant Reclassification in Patients With Congenital Cataracts

The Impact of Machine Learning Algorithms in Reducing VUS for Individuals from Underrepresented Populations Compared to Well Studied Populations

Diagnostic Yield of a Custom Targeted Genotyping Panel for Carrier Screening of >2,000 Samples: The Case Against Cystic Fibrosis-Only Testing

Identification of molecular modifiers of disease in a group of systematically phenotyped patients with Cystic Fibrosis

Disease burden of DCM genes newly added to ACMG secondary findings via population genomic screening: Impact of TTN and FLNC

An Analysis of ALPL Gene Variants in Patients With Hypophosphatasia From the Global Hypophosphatasia Registry

The importance of mitochondrial disease testing in young adults with new onset sensorineural hearing loss

Two Years of Newborn Screening for Duchenne Muscular Dystrophy in North Carolina: Results from Early Check

Development and validation of a clinical nanopore sequencing assay to confirm microdeletions and microduplications

RNA-sequencing positional gene enrichment is a useful tool in resolving cases of X chromosome copy number variation

Reinterpretation of Postnatal Clinical Copy Number Variants: A Practical Approach for Implementation as a Routine Laboratory Practice

Pathogenic Variants Detected in High Homology Segments of the PMS2 Gene in a Brazilian Sample.

How Does Multiomics Help Variant Reclassification?

Historical prospective study of the link between JAK2-V617F and thoracic aortic aneurysm

A universal filter enabling high throughput genomic screening

Hypertriglyceridemia: pancreatitis as a common feature of APOC2 chain-termination variants

An integrative view of COLQ-related congenital myasthenic syndrome

Implementation of Automated Pharmacogenomics Reporting for a Clinically Validated Whole Genome Sequencing Test

Conventional karyotyping meets molecular cytogenetics: Case series of joint chromosomal analysis in two reference laboratories in Colombia

Resolution of Variants of Uncertain Significance by RNA Sequencing

Validation of parent of origin detection for de novo events identified on SNP microarray in a postnatal population

Evaluation of population frequency data for mitochondrial variant interpretation

Genomics as a First-Tier Diagnostic Test for Neonates and Infants with Congenital Heart Disease: A Better Approach than Cyto-Centric Studies

Bionano NxClinical Software Enables Comprehensive Analysis and Interpretation of All Classes of Genomic Variants in Rare Disease Constitutional Testing Applications

High-resolution Analysis of Pathogenic Trinucleotide and Hexanucleotide Repeats, Copy Number Changes, SNVs and INDELs Using Flexible, Easy-to-use Fragment Sizing Instrumentation

A somatic pathogenic variant in PTPN11 in a patient with vascular malformation and hemihypertrophy

RNASeq Analysis Identifies the Pathogenicity of Inherited Synonymous Splice-Region Variant in NEB, Confirming a Diagnosis of Neonatal Nemaline Myopathy 2

An Automated Approach to Report Drafting for Newborn Genomic Sequencing in the BabySeq Project

Limb-Girdle Muscular Dystrophy and other Myopathy Patients Diagnostic Yield in Large Cohort of more than 6000 patients

Evidence of Complex Inheritance Patterns in Limb-Girdle and other Muscular Dystrophies: Synergistic Heterozygosity and Multigenic Inheritance

Results of Molecuolar Genetic Autopsies in Florida

Application of Long Read Whole Genome Sequencing to elucidate the molecular etiology of a patient with diagnostic odyssey

Integrating Multiple Genetic Tests Improves the Diagnostic Rate in Genetic Diseases

The NeuroDev Study: Genetic Characterization of Neurodevelopmental Disorders in African Populations

Novel Variants in EFL1 Lead to a Potential Diagnosis of Shwachman-Diamond Syndrome 2

Laboratory Utilization Management System Assists with Familial Cytogenetic Testing: 3 Case Examples

Integration of RNA Sequencing Improves Hereditary Cancer Genetic Testing

Concordance Analysis of Monozygotic Twin Gestations with SNP Technology Identifies Discrepant Chromosome Findings

Detection of non-deletional variants in HBA1 and HBA2 genes through reproductive carrier screening and breakdown by gene, variant, and ethnicity.

Expanded Services Through Hereditary Cancer Panel Cascade Testing: Known Variants vs. Serendipity

Utility of examining 100 metaphase cells in the evaluation of low-level mosaicism

The utility of exome sequencing for neurodevelopmental disorders at a large reference laboratory

Incidental detection of chromothripsis in routine blood testing of a patient with breast cancer

MINIGENE SPLICING ASSAY CONFIRMS the PATHOGENICITY of the NON-CANONICAL SPLICE SITE VARIANT c.11+5G>A in RPE65

Investigating Independence of PS3 and PM1 Evidence Categories Using Case-Control Data in BRCA1

Validation and Real-Life Experience of a Comprehensive, Targeted Next-Generation Sequencing Panel for Hereditary Cancer Predisposition

2q11.2 Recurrent CNVs Including TMEM127 - A Collaborative Multi-Center Study to Expand Knowledge of Neurodevelopmental Phenotypes and Pheochromocytoma/Paraganglioma Syndrome Predisposition

Reliability of clinician entries for patient self-identified race, ethnicity, and ancestry in clinical genetic testing

Missense Variants and a Mild Non-lethal Form of TARP?

Fostering a common language in clinical genomics: MANE Select as a universal standard to report clinical variants

Clinical Implementation of Carrier Screening and Diagnostic Testing for Spinal Muscular Atrophy using PCR/Capillary Electrophoresis assay

Updating patient results for genomic CNVs intersecting dosage sensitive genes on the ACMG secondary findings v3.1 list

Overcoming Polymer-Induced Variation in Fragile X and Huntington Disease Repeat Expansion Assays

Comparing the analytical performance of exome sequencing and traditional panel testing in a cancer population

3q28 Microdeletions Involving TP63 Are Associated with Cleft Lip/Palate in a Size- and Position-Dependent Manner

A Plot Twist: When RNA Evidence Challenges Our Expectations of DNA Results

A Comprehensive PCR/Nanopore Based Panel for CFTR Population Carrier Screening that Resolves Multiple Classes of Clinically-Relevant Variants

IMPACT OF CMA ON DIAGNOSIS AND CLINICAL MANAGEMENT OF NEONATES: A RETROSPECTIVE SINGLE CENTER STUDY OF A 10-YEAR COHORT

Partial Duplications of Haploinsufficient Genes: Always a VUS?

Analysis of challenging products of conception cases with optical genome mapping: a preliminary study

SNP FASST3, an adaptive algorithmic approach for accurate mosaic detection of CNV and LOH spanning technologies

GATEways to improved test utilization: Opening doors and building bridges

Improving DNA sequencing from dried blood spots for multi-tiered newborn screening

A Case Series of 17 Patients with VEXAS Syndrome due to UBA1 Met41 Variants

Initial Experience from a Single Laboratory on Custom Hereditary Cancer Panel Orders

PGT-M for Hereditary Cancer Conditions: A 12-year Testing Experience at a Single Reference Laboratory

Preimplantation Genetic Diagnosis for Facioscapulohumeral muscular dystrophy

Two Distinct Rearrangements in One Family within the Duchenne Muscular Dystrophy Gene

Improved classification framework demonstrates many population predicted loss of function (pLoF) variants in genomic sequencing do not result in LoF

DEVELOPMENT OF AN EDUCATIONAL FORUM FOR CLINICAL BIOINFORMATICIANS TO SHARE BEST PRACTICES

Population-Based Incidence Estimates of Classical Homocystinuria Using the Genome Aggregation Database (gnomAD)

Sequence and copy number variant detection in autosomal recessive conditions utilizing tiered-testing approach

Anonymous is Synonymous: Utilizing De-identified Genetic and Clinical Information to Evaluate Diagnostic Prioritization Algorithms

Genetic Test Stewardship for Clinical Exome Sequencing: Review of Critical Care Orders at Texas Children's Hospital

Optimized whole genome screening: the impact of variant calling accuracy improvements on curation burden

Importance Of Parental Segregation Studies and its Role in Variant Classification

Comprehensive genetic testing gives a high diagnostic yield in the Indian sub-continent compared to the western population

Efficient allelic tagging in human induced pluripotent stem cells using CRISPR

Identification of a Novel, Deep-Intronic Alteration in KDM6A: How a Multi-Omics Approach Ended a 10+ Year Diagnostic Odyssey.

Getting it Right on the First Test: Machine Learning Plus Genome-wide Methylation Profiling Resolves Equivocal Cases of Beckwith-Wiedemann Syndrome

Expanding The Genetic and Phenotypic Spectrum of Cohesinopathies in a Single Center

Detecting Short Tandem Repeat Expansions: Three-year Experience with Clinical Whole Genome Sequencing (cWGS) for a Rare and Undiagnosed Population

Biallelic missense NEXN variants lead to recessive severe neonatal cardiomyopathy

Molecular Diagnosis of Prader-Willi and Angelman Syndromes using Methylation-Specific MLPA

Impact of processed pseudogene insertions in genetic testing as cause of monogenic diseases: insertion in CLCN1 gene causing Myotonia Congenita

Gene Panels for Skeletal Dysplasia and Epilepsy: Maximizing Clinical Utility through Careful Design, Regular Review, and Clinician-Laboratory Collaboration

Gene variant spectrum in patients with familial exudative vitreoretinopathy

Genetic counseling assistants in the laboratory: scope of work and career ladder at ARUP laboratories

Multiple mitochondrial DNA deletions in patients with myopathy

Exon-level copy number variations identified by whole genome sequencing in previously undiagnosed patients with rare hereditary diseases

Four Cases of Mosaic Triploidy Identified by Trio Exome Sequencing

Dual Diagnosis of Maple Syrup Urine Disease 1B and 6q14.1 Deletion in an Individual with Neurodevelopmental and Metabolic Phenotypes

Rapid genome sequencing identifies a de novo SNAP25 variant for neonatal congenital myasthenic syndrome

Additional diagnoses through next-generation sequencing in cases initially considered solved by cytogenetics analysis

Leveraging extensive datasets to better classify SMARCA4 variants

Identification of NF1-associated Tumor Mutations in Plasma cfDNA and its Clinical Application

Improved Efficiency of G-band Chromosome Analysis via Deep Neural Network Workflow

Evaluating Technical and Analytical Validity of the Illumina Infinium Global Diversity Array with Cytogenetics (GDACyto) for Clinical Testing

Assessing the Performance of Automated HPO Term Extraction for Deep Phenotyping of Patients Receiving WES/WGS in a Clinical Diagnostic Laboratory

HiFi reads provide accurate detection of variants and DNA methylation in challenging regions of the genome

Genetic Ancestry analysis using 46 AIM-InDel in three population groups of Colombia: Amerindian, African-descent and European-admix populations

A 3.9 Mb Triplication Within 11p14.1p13 Containing ELP4 and PAX6 In a Patient With Congenital Nystagmus and Mild Speech Delay

Novel Molecular Mechanism in Malan Syndrome Uncovered through Detailed Genome Sequencing Reanalysis, Exon-level Array and RNA-seq

A Lab Developed FISH Test for Bladder Cancer and Pancreaticobiliary Cancer

Genetic landscape of donor-derived hematological malignancies and donor-derived clonal abnormalities of uncertain significance after sex mismatched allogeneic stem cell transplantation

Prenatal Cytogenetic Test Review Adds Value to Clinical Care - Illustrated by Example Cases

Trends in Prenatal Genetic Diagnosis for Congenital Diaphragmatic Hernia: A 20-Year Single Center Retrospective Review

Prenatal Genetic Screening and Diagnostic Testing Before and After the Height of the Covid-19 Pandemic in The Bronx NY

Fetal Genome Sequencing for Multiple Congenital Anomalies Identifies a Likely Pathogenic Variant in the CHD2 Gene: A Case Report

Impact of NIPS Outside of Scope Reporting on Fetal and Maternal Cytogenetic Testing

Fetal Asparagine Synthetase Deficiency Diagnosed by Carrier Screening in the Workup of Fetal Growth Restriction

Deciphering the Clinical Relevance of PIEZO1 Variants Detected by Prenatal Exome Sequencing in Nonimmune Hydrops Fetalis

Clinically Significant Parental Diagnosis as an incidental Finding from Prenatal Genetic Testing

Two Cases of Prenatally Diagnosed Cri-du-Chat Syndrome and Associated MRI Findings

Prenatal Presentation of Baraitser-Winter Syndrome: A New Lymphatic Multiple Congenital Anomaly Syndrome

Specialization in Prental Genetic Counseling: Defining the Role of Fetal Therapy Genetic Counselors

Prenatal diagnosis of sideroblastic anemia with immunodeficiency, fevers, and developmental delay in a fetus with severe growth restriction and cardiomegaly.

Murky Waters: Discrepant Preimplantation Genetic Testing - Aneuploidy, Non-Invasive Prenatal Testing, and Prenatal Diagnostic Testing for Mosaic Trisomy 21

Prenatal Diagnosis of 6pter-p24 Deletion Syndrome in a Fetus Associated with Multiple Posterior Fossa Anomalies and an Unexpected Microarray Result

Application of Prenatal Exome Sequencing in fetuses with Multiple Congenital Sonographic Abnormalities: A Report of Three Cases

A Multiplexed Targeted PCR and Single Nucleotide Extension assay for the 14 Most Common Thanatophoric Dysplasia I and II Mutations

Prenatal diagnosis of anopthalmia with de novo variant in SOX2

Congenital anemias in nonimmune hydrops fetalis diagnosed by exome sequencing

Cell-based Noninvasive Prenatal Screening for a Comprehensive Fetal Genome Profiling for Pathogenic Submicroscopic CNVs in Circulating Trophoblasts from Maternal Blood

Utility of Negative Fetal Exome Sequencing in Diagnosing Chondrodysplasia Punctata Associated with Maternal Systemic Lupus Erythematosus: A Case Report

Prenatal Detection of a Novel Pathogenic Missense Variant in COL11A1 Leads to a Familial Diagnosis of Stickler Syndrome Type II

Rates of Unbalanced Chromosome Rearrangements Associated with Pericentric and Paracentric Inversions: Analysis of Molecular Chromosome Results in Blastocyst-Stage Embryos Samples

Fetal Placental Discordance as an Explanation for False Negative SNP-based NIPT

Targeted application of genome-wide cell-free DNA (GWcfDNA) non-invasive prenatal screening (NIPS)

NIPS dilemma in the context of consanguinity; considerations for counseling

Prenatal Diagnosis of a RNU4ATAC-Related Disorder Detected by Whole Genome Sequencing Not Seen by Exome Sequencing on the Initial Proband.

First Case of a FBXW11-Related Disorder Diagnosed via Prenatal Whole Exome Sequencing

Diagnosis of Thrombocytopenia Absent Radius (TAR) Syndrome After Abnormal First Trimester Ultrasound: A Case Report

A novel, iteratively designed and highly multiplexed droplet digital PCR assay for non-invasive prenatal screening

Early Performance Analysis for 22q11.2 Deletion Syndrome Detection Using a Whole-Genome Sequencing-Based Noninvasive Prenatal Screen

Case Report: Prenatal Diagnostic Challenges in Familial Mediterranean Fever

Fetal SPTA1-related hemolytic anemia presenting in the mid-trimester with ascites

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

Novel Prenatal Phenotype of Biallelic mutations in SLC5A6; expanding the phenotypic spectrum

#NUM!

Social determinants of health and genetic testing in intrauterine fetal demise

Development of a Hemolysis Index for Vanadis cfDNA NIPT Sample Acceptance

Maternal implications of Triple X syndrome detected after abnormal NIPT and inconclusive expanded carrier screening. A case-report.

Prenatal diagnosis of 7q, Xq/Yq deletion mosaicism in an alobar holoprosencephaly fetus: A case report and review of the literature

Single center experience using single-gene-NIPT to evaluate fetal risk of autosomal recessive conditions

Identification of a pathogenic variant in NSDHL in a patient with congenital high airway obstruction (CHAOS) syndrome

Prenatal Diagnosis of Alkuraya-Kučinskas Syndrome by Exome Sequencing

Molecular findings of a placental mass in association with neonatal mosaic trisomy 21: teratoma versus monozygotic acardiac amorphous twin

Whole-exome sequencing on product of conception: A cohort study to evaluate clinical utility and genetic etiology for pregnancy loss

Diagnostic yield of multi-omics approach in Undiagnosed Diseases Network Miami Clinical Site

Transcriptome sequencing increases yield of Mendelian disease diagnosis.

Can Computational Tools Generate Greater Than ACMG Supporting Evidence? A Circularity-Free Analysis Using ATM, CHEK2, and Breast Cancer Case-Control Data

Creation of a ClinGen Standard Operating Procedure to Guide Gene- and Disease- Specific Refinements of the ACMG/AMP Criteria

Comparison of droplet digital PCR and multiplex ligation-dependent probe amplification in identifying CFHR3-CFHR1 deleted region

A Generalized Model to Describe Sequence Feature Annotation

Genomewide longitudinal DNA methylation profiling of pregnant women and its association with preterm birth outcomes

Early Results from a Multiomics Cohort: Unique RIPK1 Fusions Identified in Two Individuals with Irritable Bowel Disease

Estimating predispositional breast cancer risk in genic regions using population sequencing data

The Brotman Baty Institute Clinical Variant Database (BBI-CVD)

Evaluation of the ClinGen/CGC/VICC Oncogenicity Guidelines to support Pediatric Variant Classification Workflows

Using the Alabama Genomic Health Initiative to identify factors that influence the variable expressivity and reduced penetrance of hemochromatosis

Resolving clinically relevant short read deficient homologous sequences using a novel CRISPR-CAS mediated targeted long read sequencing method

NSD2 duplication results in distinct phenotype and DNA methylation signature

Hybridization-Based Target Enrichment with Illumina Complete Long-Read Assay

Whole-genome sequencing as a first assay has the potential to shorten diagnosis time for neurodevelopmental disorders

Accelerating novel gene discovery utilizing a constraint-based method on exome sequencing data of 23,670 patients

A database of high allele frequency variants from exome sequencing data of 20,455 patients enriched with Asian population

Estimating UK Biobank population-specific PGx allele and phenotype frequencies using PharmCAT

A Community Based Participatory Research Pilot Project to increase Awareness of Cancer-Related Genetic Counseling and Testing through Communication Asset Mapping

Next-Generation Health Technology Assessments: Rapid Evidence Assessments Provide Timely Data-driven Guidance on Genetic and Genomic Tests

Recommendations for the improvement of diagnostic yields in rare disease cases through the integration of structural variants into analytical pipelines

The accuracy of variant-specific literature search results using LitVar2.

Predicting variant classification by modeling the effects of functional and case study data in RUNX1 variants of uncertain significance

Automated Identification and Indexing of Genes and Variants using Bidirectional Encoder Representation from Transformers

VariantMatcher a tool to enable connections amongst individuals with interest in a specific variant

Novel variant in RAG2, identified through data mining, is linked to rare forms of primary immunodeficiencies

Whole-transcriptome-based skin virome profiling in typical epidermodysplasia verruciformis patients reveals infections with α-, β- and γ-HPVs.

Long-read Sequencing Reveals a Novel Pathogenic Variant in IKBKG with Associated Skewed X-inactivation in Affected Females

Batch ClinVar Submission Support in ClinGen's Variant Curation Interface (VCI)

Designing an Untargeted Metabolomics Assay to Detect Biomarkers for Inborn Errors of Metabolism in the Clinical Laboratory

Uptake of Cascade Testing in Families With Ovarian Cancer: Genetic Risk Analysis in Ovarian Cancer (GRACE) Study

Perspectives of Genetics Healthcare Professionals on Direct-to-Consumer Genetic Testing Practice Recommendations

Color Vision Deficiency: A Case Report and Call to Action for Screening and Education

'I would have had no idea': families' experiences with a new U.S. health system-mediated direct contact program

Implementing Community Engagement to Refine Education and Consent Materials for Newborn Genomic Sequencing Research

Disseminating Genetics Policy Information on Social Media

ACMG ACT Sheets and Algorithms: Update Process, Development, and Utilization

'Estamos Perdidos [We are Lost]': Exploring Genetic Testing Decision Making Pathways for Latinx Populations

Are We Doing Enough: The Successes and Challenges of Developing a DEI Committee

Play Activity and Schooling Pattern in Children with Down Syndrome in Resource Constrained Settings

Equity Challenge: Examining how to Improve Genetic Telehealth for Patients in Detroit Metro Area

State of Play: The Current Landscape of Newborn Screening for Pompe Disease in the United States

A Pilot Mentorship Program for the Career Advancement of Underrepresented Individuals in Laboratory Genomics at Mayo Clinic

Connecting People to Genetic Services - Work of the Regional Genetics Networks

Comparing Genetics Policies in State Medicaid Programs in 2022 versus 2021

Interpreting for Genetics: Reaching Underserved Populations

Six Years of Community and Student Engagement with Family Health History in a Baltimore Public Market

UNC EDGE Genomics: A New Undergraduate Training Program to Increase Inclusion in the Genomics Workforce

Adolescents' State Anxiety and Decisional Regret One Week After Learning Carrier Results for Autosomal Recessive Disorders

Assessing Human Genetics' Training in Ecuadorian Medical Schools

Gauging Medical Student Comfort in the Delivery of Difficult News in the Context of Genetics

The Impact of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency on the Family (Audio)

MEXICAN CLINICAL AND MOLECULAR REGISTRY OF MUCOPOLYSACCHARIDOSIS TYPE VII (Audio)

Recurrent Somatic Copy Number Alterations and Their Association with Gene Expression Levels on Cancer Genes in Ovarian Serous Cystadenocarcinoma (Audio)

Creation of the Ontario Hereditary Cancer Research Network (OHCRN) (Audio)

Cascade testing with comprehensive multigene panels for hereditary cancer identifies unexpected findings in relatives (Video)

Spectrum of Genetic Alterations for Hereditary Paraganglioma-Pheochromocytoma Syndrome Testing: Eight-Year Experience from a Single Diagnostic Laboratory (Audio)

ATM and PALB2 Variant Curation Guidelines Progress Update: ClinGen Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel (Audio)

Comprehensive Functional Analysis of CHEK2 Variants: A Novel Approach to Classify Hereditary Cancer Syndrome Variants of Uncertain Significance (Audio)

The ClinGen ENIGMA BRCA1/2 Expert Panel: a dynamic framework for evidence-based recommendations to improve classification criteria for variants in BRCA1/2 (Audio)

Diagnostic dilemma in a pediatric high grade brain tumor with the ETV6-NTRK3 gene fusion (Audio)

BRCA1 Germline Variant Driving a Case of Colon Cancer (Audio)

Identification of PALB2 variants and associated cancers in a large, unselected healthcare population (Audio)

What's Trending: Comparing Variant of Uncertain Significance (VUS) Rates in Cancer Predisposition Genes Over Time in Black and White Individuals (Audio)

Determining the impact of rare canonical splice site variants: A comparison of functional and in silico methods (Audio)

Kidney Features in Patients with a Molecular Diagnosis of Birt-Hogg-Dubé Syndrome: A Case Series (Audio)

Biallelic Variations in ATP13A2 Manifesting with a Complicated Motor Neuron Disease Phenotype (Audio)

Molecular Basis of Adducted Thumbs Syndrome in the Old Order Amish Community (Audio)

Prevalence of malignant hyperthermia symptoms in patients receiving RYR1 results through a population genomic screening program (Audio)

Whole-Genome Sequencing in the NICU: Improving Healthcare through Precision Medicine (Audio)

Cherubism in Two Generations of an African American Family (Audio)

Whole-exome analyses of non-syndromic hearing loss patients from India reveal a wide spectrum of known and novel mutations (Audio)

A Truncating Variant in RFX7 Causing Developmental Delay and Intellectual Disability. (Audio)

Nutritional Markers Of Histamine Intolerance in Ehlers-Danlos Syndromes (Audio)

Comprehensive Newborn Hearing Screening in Generation Genome through SEQaBOO (SEQuencing a Baby for an Optimal Outcome) (Audio)

The ClinGen Pharmacogenomics Working Group: Developing a Framework for Gene-Drug Response Clinical Validity (Audio)

Never Two Late: A Dual Diagnosis of Noonan Syndrome and Hypophosphatasia in an Adolescent Patient with Unusual Presentation. (Audio)

Phenotypic and genotypic spectrum of Arthrogryposis Multiplex Congenita using Next Generation Sequencing: Experience from a tertiary care centre in India (Audio)

A novel TGFBR1 splice-site variant identified in a family with Loeys-Dietz syndrome and variable aortic phenotypes (Audio)

Case Report: PHACE-Like Syndrome With TMEM260 Compound Heterozygous Variants (Audio)

SINO Syndrome Associated with Heterozygous KIDINS220 Variants: A More Severe Presentation and Maternal Mosaicism (Audio)

Characteristics and Genetic Testing of Infants with Neonatal Encephalopathy Not Due Hypoxic Ischemic Encephalopathy (HIE) (Audio)

XLH Molecular Diagnoses and the PHEX Gene Variant Landscape: Sponsored Hypophosphatemia Gene Panel Testing Findings from 2019 versus 2022 (Audio)

Survival in Eteplirsen-treated vs Duchenne Muscular Dystrophy Natural History Patients: An Indirect Treatment Comparison Using Real-world Data (Audio)

Case Report: NFIA-related Disorder Caused by Inherited Missense Mutations Leading to Variable Presentations Among Family Members (Audio)

Two New Cases of 9q21.13 Microdeletion Syndrome and Review of the Literature (Audio)

Heterozygous variant of TGFB3 in a patient with an atypical phenotype of Loeys-Dietz Syndrome (Audio)

Beyond SMN1: review of genotype-phenotype correlation in individuals with >=4 SMN2 copy numbers (Video)

Incorporating Regulatory Information Improves Interpretation of Noncoding Variants (Audio)

A rare case of Ferguson-Bonni Neurodevelopmental syndrome with cleft palate (Audio)

Clinical burden and health behaviors associated with genomic screening for homozygous HFE C282Y variants in an unselected health care system (Audio)

Expanding the Phenotypic Description and Allelic Heterogeneity of the KAT6B-Related Disorder (Audio)

WGS/WES as Unique Diagnostic Tool for the Genetic Screening of Patients with Craniosynostosis (Audio)

SATB2-Associated Syndrome Severity Score: Genotype/phenotype Correlations and the SATB2 Portal (Audio)

Project GIVE: Expanding Genetic Testing to Underserved Areas in the Rio Grande Valley Using a Telehealth Platform (Audio)

Inter-Center Variation in the Availability and Provision of Genetic Medicine Services in Level IV NICUs (Audio)

Use of Genetic Services Among Patients with Prostate Cancer at a Safety-Net Hospital: A Mixed Methods Study (Audio)

Increasing Equitable Access and Uptake for Hereditary Cancer Testing in Patients with Breast Cancer (Audio)

Project FIND-OUT (Fast Infant Neurogenetic Diagnosis via Outpatient Testing): Utilization of Healthcare Claims Data to Inform Protocol Design (Audio)

A Genome Sequencing Approach to Pharmacogenomic Profiling Across Diverse Population in a Large Health System (Audio)

A novel deep intronic variant in DYNC2H1 characterized through exome reanalysis in a neonate with short-rib thoracic dysplasia type III (Audio)

Highly Scalable Pharmacogenomic Panel Testing with Hybrid Capture and Long-Read Sequencing (Audio)

Applying the 2022 Guidelines for Non-Coding Variant Classification In a Large Rare Disease Cohort (Audio)

The Impact of Machine Learning Algorithms in Reducing VUS for Individuals from Underrepresented Populations Compared to Well Studied Populations (Audio)

Resolution of Variants of Uncertain Significance by RNA Sequencing (Audio)

High-resolution Analysis of Pathogenic Trinucleotide and Hexanucleotide Repeats, Copy Number Changes, SNVs and INDELs Using Flexible, Easy-to-use Fragment Sizing Instrumentation (Audio)

The utility of exome sequencing for neurodevelopmental disorders at a large reference laboratory (Video)

Validation and Real-Life Experience of a Comprehensive, Targeted Next-Generation Sequencing Panel for Hereditary Cancer Predisposition (Audio)

IMPACT OF CMA ON DIAGNOSIS AND CLINICAL MANAGEMENT OF NEONATES: A RETROSPECTIVE SINGLE CENTER STUDY OF A 10-YEAR COHORT (Audio)

A Case Series of 17 Patients with VEXAS Syndrome due to UBA1 Met41 Variants (Audio)

DEVELOPMENT OF AN EDUCATIONAL FORUM FOR CLINICAL BIOINFORMATICIANS TO SHARE BEST PRACTICES (Audio)

Population-Based Incidence Estimates of Classical Homocystinuria Using the Genome Aggregation Database (gnomAD) (Audio)

Efficient allelic tagging in human induced pluripotent stem cells using CRISPR (Audio)

Detecting Short Tandem Repeat Expansions: Three-year Experience with Clinical Whole Genome Sequencing (cWGS) for a Rare and Undiagnosed Population (Audio)

Improved Efficiency of G-band Chromosome Analysis via Deep Neural Network Workflow (Audio)

Trends in Prenatal Genetic Diagnosis for Congenital Diaphragmatic Hernia: A 20-Year Single Center Retrospective Review (Audio)

Deciphering the Clinical Relevance of PIEZO1 Variants Detected by Prenatal Exome Sequencing in Nonimmune Hydrops Fetalis (Audio)

Clinically Significant Parental Diagnosis as an incidental Finding from Prenatal Genetic Testing (Audio)

Cell-based Noninvasive Prenatal Screening for a Comprehensive Fetal Genome Profiling for Pathogenic Submicroscopic CNVs in Circulating Trophoblasts from Maternal Blood (Audio)

Fetal SPTA1-related hemolytic anemia presenting in the mid-trimester with ascites (Audio)

Effectiveness of expanded prenatal carrier screening and prenatal ultrasound in identifying congenital disorders among consanguineous couples (Audio)

Evaluation of the ClinGen/CGC/VICC Oncogenicity Guidelines to support Pediatric Variant Classification Workflows (Audio)

Estimating UK Biobank population-specific PGx allele and phenotype frequencies using PharmCAT (Audio)

Next-Generation Health Technology Assessments: Rapid Evidence Assessments Provide Timely Data-driven Guidance on Genetic and Genomic Tests (Audio)

Automated Identification and Indexing of Genes and Variants using Bidirectional Encoder Representation from Transformers (Audio)

Novel variant in RAG2, identified through data mining, is linked to rare forms of primary immunodeficiencies (Audio)

Six Years of Community and Student Engagement with Family Health History in a Baltimore Public Market (Audio)

2023 ACMG Abstract Search

2023 Abstract Supplement Link

ACMG Annual Meeting 2023 Abstract Supplement