Discriminating Guanidinoacetate Methyltransferase Enzyme Deficiency false positives TPN babies by using the Arginine/GUAC ratio

Improvements in blood phenylalanine and health-related quality of life outcomes among adults with PKU receiving pegvaliase in the OPAL study

Glucosylsphingosine and its utility for newborn screening for Gaucher disease

Variant curation guideline specifications for ABCD1 from the ClinGen Peroxisomal Variant Curation Expert Panel

Validation of a Multiplex LC-MS/MS Assay for Newborn Screening for MPS II, IVA, VI, and VII in Dried Blood Spots

Genetic Insights from a Large-Scale Exome Sequencing Study of Type 1 Diabetesin Ukraine

A Case Series and Functional Study of Two Commonly Reported Pathogenic Variants in OTC Supports a Hypomorphic Classification

Index of sustained Phe response and improvements in PKU clinical outcome assessments in patients receiving pegvaliase

Assessment of Gestational Age and Birthweight in Patients with Metabolic Conditions Included in CLIR

Marked phenotypic heterogeneity associated with a heterozygous pathogenic variant in the acetyl-CoA acyltransferase 2 gene.

Untargeted proteomics greatly aides the functional diagnosis of mitochondrial aminoacyl-tRNA synthetases (ARS2s)

Advances in Multi-omics Diagnostics Studies of Mitochondrial Diseases in Japan

Retrospective Claims Analysis: Major Clinical Manifestations and Healthcare Resource Use Among Patients With Long-Chain Fatty Acid Oxidation Disorders Pre/Post-Triheptanoin Initiation

Clinical Characterization of Classical Homocystinuria due to Cystathionine-beta Synthase Deficiency: Results from the ACAPPELLA Study

Acute Arrhythmias in a Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) Mouse Model

Use of Cholic Acid in Smith-Lemli-Opitz Syndrome (SLOS): Real-World Patient Outcomes

Safety and Tolerability of Chenodeoxycholic Acid in Pediatric Patients With Cerebrotendinous Xanthomatosis (RESTORE): An Open-label Phase 3 Study

Comparison of treatment efficacy of very long chain acyl-CoA (VLCAD) deficiency with an AAV9.hVLCAD vector, synthetic VLCAD mRNA, and triheptanoin.

Introducing an interactive, searchable database of LC-FAOD gene variants, genotypes and phenotypes.

Clinical Utility in Hospital-Wide Use of GDF15 as a Biomarker for Mitochondrial DNA Encoded Primary Mitochondrial Disorders

Newborn screening predicts phenotype conversion and developmental outcome in hyperphenylalaninemia

Interim Analysis of the Efficacy and Safety of Weekly Intravenous Tividenofusp Alfa in Mucopolysaccharidosis Type II: A Phase 1/2 Study

Genetic landscape of ALPL and other genes impacting alkaline phosphatase variation in the UK Biobank

Population-Specific Structural Variation Linked to Metabolic Diseases in People of Pacific Ancestry

Initial psychometric evaluation of the Adult Symptom Severity and Impacts Scale (PKU-SSIS) using interim data from the OPAL study

Update from PHEFREE: The National Institutes of Health Rare Disease Consortium for Hyperphenylalaninemia

A Ketogenic Diet Successfully Treats Refractory Epileptic Spasms in a Child with AICA-Ribosiduria

Improving ataxia symptoms in patients with monoallelic DHDDS-CDG using nicotinamide precursor supplements

Mitochondrial Copy Number in Undiagnosed and Rare Monogenic Diseases.

- Identifying Metabolic Markers for the Early Differentiation of LCHAD and TFP Deficiencies: Insights from Acylcarnitine Profiling

Unveiling Psychopathology in Congenital Disorders of Glycosylation: A Comprehensive Study Using Patient Records, Questionnaires, and Literature Review.

In Vitro Evaluation of Drug-Drug Interaction Potential of Doxecitine and Doxribtimine in Thymidine Kinase 2 Deficiency (TK2d)

Impact of Homocystinuria on the Brain and Nervous System

Neuropsychiatric Symptom Burden of Cerebrotendinous Xanthomatosis, the Importance of Diagnosing Early, and the Impact of CDCA Treatment: A US-based Survey

Development and Validation of a Quantitative Ultra-Performance Liquid Chromatography Quadrupole Time-of-Flight (UPLC-QTof) Method for Urine Organic Acid Analysis

Title: Outcomes of Liver Transplantation in Glycogen Storage Disease Type Ib

California's Experience with Guanidinoacetate Methyltransferase Enzyme Newborn Screening on the First 100,000 Samples

Exploring the Use of Emergency Investigational New Drug Therapy in 3 Pediatric Patients with Inborn Errors of Metabolism

The Assessment of the Treatment and Management Landscape of Phenylketonuria survey study: Findings from 19 clinics in the United States

Occurrence of anaphylaxis in adult incident pegvaliase-treated PKU patients in a post-marketing safety analysis in the United States

Interim Results From the APHENITY Extension Study: Sepiapterin Reduces Blood Phe With Improved Dietary Phe Tolerance in Participants With Phenylketonuria

Three Year Safety Experience in Children Treated with Govorestat for Classic Galactosemia

The Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Disease Monitoring Program: An Evaluation of Initial Findings

Integrating metabolic, genetic, and demographic data for enhanced newborn screening.

Impact of prenatal fentanyl exposure on sterol analysis for Smith-Lemli-Opitz syndrome in newborns

Durable Fracture Rate Reduction in Patients with OI with Setrusumab Treatment: 14-Month Data from Phase 2 of the Orbit Study

Genotype Phenotype Correlations Inform Therapeutic Approach in Serine Palmitoyltransferase (SPT)-related Disorders

Targeting KV10.1 Channels in Breast Cancer: The Role of Ion Channel Genetics in In Silico Electrophysiological Mechanisms and Drug Discovery

Subgroup Analysis by Phenoytpe in a Phase III, Randomized, Placebo-Controlled Crossover Trial with Levacetylleucine (IB1001) for Niemann-Pick Disease Type-C

Improving care for patients with Hyperammonemia: Use of Quality and Safety Frameworks and Creation of a Clinical Care Pathway

Reducing the False Positive for Guanidinoacetate Methyltransferase Enzyme Deficiency in Newborn by the Addition of a Second Tier UPLC-MS/MS Test

The unexpected and novel mitochondrial phenotype of the ex vivo patient-derived cellular model for SYNGAP1 encephalopathy.

Influence of MTHFR Polymorphisms and Folate Pathway Metabolites on Comorbidities in Down Syndrome

Metabolic Approach for the Development and Validation of Candidate Treatments for Phelan-McDermid Syndrome

Presentation and Diagnosis of Adolescent-Onset HMBS-Related Leukoencephalopathy

Anion Gap Metabolic Acidosis of Unknown Etiology

TRIT1-associated combined oxidative phosphorylation deficiency-35: Two cases from opposite ends of the epilepsy spectrum

Canonical splice variant c.298+2T>C in OTC associated with attenuated ornithine transcarbamylase deficiency

Treatment of BOLA3-Associated Multiple Mitochondrial Dysfunctions Syndrome 2 with a Mitochondrial Cocktail

Silent Risks: Sudden Cardiac Death in a Pediatric Patient with MELAS

TMEM70 Deficiency: Neurodevelopment, Natural History, and Emerging Symptoms from Neonate to Childhood

Progressive Neurological Symptoms in a 36-Year-Old Female: Clinical Challenge

Follow-up of very attenuated form of mucopolysaccharidosis type Ⅱ detected by newborn screening.

Two de novo intronic mutations of GLS gene leading to Glutaminase Deficiency/ Autosomal Recessive Developmental and Epileptic Encephalopathy 71 (AR-DEE71)

Use of Tadalafil in MEGDEL Syndrome

Phenotypic expansion of Menkes disease in a small cohort: one institution's experience

Mitochondrial Complex II deficiency: heterozygous loss of function variant in the SDHA gene causing a severe neonatal phenotype.

A Case of Neuromyelitis Optica Spectrum Disorder in ARCN1-related Congenital Disorder of Glycosylation: A Rare Autoimmune Phenotype

Molybdenum Cofactor Deficiency: Results of Rapid S-Sulfocysteine Analysis and Genome Sequencing Still Not Rapid Enough

Carnitine palmitoyltransferase-2 deficiency in a 4-year-old boy presenting with autism spectrum disorder: continuing to uncover links between autism and carnitine

Acute Mitochondrial Dysfunction in Proprionic Acidemia

A Novel Variant and Treatment Modality in TANGO2 Deficiency

Expanding Clinical Spectrums in Carbamoyl Phosphate Synthetase I deficiency: A Case Series of four patients - a tertiary institution's experience.

Outcomes of a pediatric patient with late-onset Pompe disease switching from high‑dose alglucosidase alfa to standard-dose cipaglucosidase alfa plus miglustat

High Efficacy on Low-dose Empagliflozin Efficacy in Glycogen Storage Disease-1b Sibling Pair

GSD1 Subtype 1B: Timeline and progression of clinical symptoms in a patient with juvenile idiopathic arthritis.

Sensorineural Hearing Loss in a Child with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) Treated with Cochlear Implantation

Response to Ketone Therapy in an Unusual Case of Type 1 Multiple Acyl-CoA Dehydrogenase Deficiency

Use of ketogenic diet in MOGS-CDG: a case study

GAUCHER DISEASE AND A SLC26A6 VARIANT: UNEXPECTED BONE FRAGILITY

SC4MOL Deficiency: 11th Reported Patient with Updates in Treatment Outcomes and Review of Reported Cases

Managing BCKDK Deficiency on the Frontier:Treating BCKDK Deficiency in an Underserved Hutterite Community

Hyperammonemia in a child with short bowel syndrome: urea cycle disorder or complication of altered gastrointestinal function?

Adult presentation of MOGS-CDG: Expanding the Clinical Spectrum

Dimethylglycine Dehydrogenase Deficiency in Siblings with Skeletal and Neurodevelopmental Manifestations

March MADDness - A diagnostic dilemma with genotype/phenotype discordance

A woman with blistering skin and abnormal CBC findings with a novel mutation resulting in aberrant splice of PPOX transcript

Challenges in Newborn Screening for Mucopolysaccharidosis Type I:  A Case Study

Characterization of RPS20-related colorectal cancer predisposition: a case series from a multigene panel testing cohort

Landscape of Thai Hereditary Colorectal Cancer: Insights from 941 Cases

Predictive Accuracy of Liquid Biopsy for Comprehensive Genomic Profiling of Solid Tumors

Very Low Penetrance of Loss-of-function Variants in PMS2 for All Lynch Syndrome Relevant Cancers In Large US Biobanks

Congenital urinary tract anomalies are a variable finding associated with nevoid basal cell carcinoma syndrome

Frequency and pathogenicity of hereditary tumor-associated pathogenic variants in the Japanese general population using ToMMo 54KJPN data

Spatial Transcriptomics Analysis and Differential Pseudotime Analysis of High-Grade Astrocytoma with Piloid Features

Assessing Breast Cancer Risk: A Comparative Analysis of Ancestry-Adjusted PRS Models in Women of Ashkenazi Jewish Heritage

Expanding Germline Hereditary Cancer Gene Panel Testing by Non-Genetics Providers: 3-year Experience in Large Integrated Healthcare Delivery System

Co-existing t(9;14)(q33;q32)/IGH Rearrangement is a Risk Factor for Lymphoid Blast Phase Transformation of Chronic Myeloid Leukemia

Identifying Disparities in Referral for Hereditary Cancer Genetic Testing in a Population Eligible for Targeted Therapy

Anticarcinogenic Plants for Oncology: Nutraceuticals Replacing Traditional Chemotherapy? An in-vitro & in-vivo Investigation with Zebrafish models of Human Breast Cancer

Prevalence of Germline Double Heterozygosity for Pathogenic Variants in Thai Cancer: A Study of 8,068 Patients

A Comparison of Gynecologic Cancer Risk Management in Lynch Syndrome Patients Between a Safety-Net Hospital and University Medical Center

Phenotype Prediction Using Cell-Free DNA Fragmentation as a Predictor of Clinical Severity in Neurofibromatosis Type 1 (NF1)

Factors associated with precancerous colon polyps (adenomas) in Lynch syndrome patients

Over-Representation of PMS2CL Pseudogene Interference in PMS2 Testing in a Non-European Cohort

Genome Sequencing Analysis of Extracellular Vesicle DNA from Pancreatic Cancer Patient-derived Cells Reveals Coding, Non-coding Signatures and Mutational Hotspots

Influence of Preoperative Lynch Syndrome Diagnosis on Surgery in Patients with Colorectal Cancer

Performance of Amplicon-based Next Generation Sequencing in Detection and Quantification of FLT3-ITDs as Compared to Conventional PCR-based Testing

Genomic Tumor Profiling and Identification of Germline Cancer Predisposition Variants in a Pediatric Cohort

Genetic basis of inflammatory response in prostate cancer health disparity

Loss of DDI2 Triggers Autophagy through CCN1 in Cancer Cells

Rapid detection of PML::RARA fusions in acute promyelocytic leukemia using CRISPR/Cas9-mediated nanopore sequencing with adaptive sampling

Liquid biopsy for early cancer detection in children and adults with hereditary cancer syndromes across Canada

Assessing the Clinical Relevance of BRCA1 RING Domain Variants of Uncertain Significance​ (VUS) with Comprehensive Computational and Functional Analyses

Bioinformatics Pipeline for Somatic Variant and Mutation Signature Analysis from Tissue Biopsies Using RNA-Seq

The Impact of Discrepant Payor Policies from One Lab Benefits Manager on Patient Access to Genetic Testing

Bioinformatics Analysis Reveals Genes Involved in PI3K-Akt Pathway as Novel Potential Biomarkers and Drug Targets for Acute Myeloid Leukemia (AML)

Implications of multiple germline variants identified by panel-based cancer genetic testing

The Effect of Patient Uncertainty in Family History on Genetic Testing Recommendations for Hereditary Cancer Syndromes

Optimizing FISH Results in Multiple Myeloma: Plasma Cell Selection via Flow Cytometry

Deciphering the structural complexities of pediatric low grade gliomas

Genetic Testing for Hereditary Cancer in Mexico: Insights from a Private Hospital Cohort from 2007 to 2023.

Engaging the Nurse Navigator to Increase Genetic Testing Rate for Metastatic Prostate Cancer Patients

Data Model and Portal Development Supporting Centralization of Genetic Information in a Provincial Research Network

An atypical and complex BCR-ABL translocation in a chronic myeloid leukemia patient and its response to TKI therapy

Multi-Gene Panel Testing Within the Context of Limited Family Structure in Single Cases of Breast Cancer

Should All Survivors Undergo Genetic Screening? - A Review of a Breast Cancer Survivorship Program in the Bronx, NY

Expression and Prognostic Implications of Lynch Syndrome-Related Genes in Bladder Cancer

Original protocol for presumed germline pathogenic variants in cancer genome profiling tests

Biomarker testing patterns among patients newly diagnosed with non-small cell lung, prostate, and bladder cancer

A Novel EP300::PATZ1 Fusion Identified in A Patient With High-Grade Neuroepithelial Tumor

RUNX1::SLTM - a new fusion gene developed from t(15;21)(q22;q22) during accelerated phase in CML

Testing of t(4;14) in Multiple Myeloma: How to Do It

A novel RUNX1::EWSR1 gene fusion in a young male acute myeloid leukemia (AML) patient: A case report

Quantitative Muscle Ultrasound as a Window into Disease Progression in Infantile-Onset Pompe Disease

Diagnostic value of repeat expansion disorders detected in genome sequencing data

Parsing autism heterogeneity: phenotypic differences between individuals across genes of different effect sizes

Initial findings of the ClinGen Monogenic Systemic and Incomplete Lupus Gene Curation Expert Panel

Qualitative Interviews to Support the Development of a Patient-Reported Outcome (PRO) Measure for Glycogen Storage Disease Type Ia

Updating Gene-Disease Classifications and Inheritance Patterns for Porphyric Disease Entities to Improve Diagnostic Accuracy and Patient Management

Impact and evolution of a philanthropic global network providing clinical genomic testing

Registry and Gene Replacement Therapy for Spinal Muscular Atrophy at Referral Center of Pediatrics in Vietnam

Clinical and Molecular Investigation of 89 Brazilian patients with Cornelia de Lange syndrome

Correlation of mitochondrial DNA content in muscle with genetic diagnosis

Expanded Molecular Newborn Screening: Comparing Results of a 256 vs.1,518 Gene Panel

Safety, efficacy, and exposure-response of NNZ-2591, a synthetic analog of an IGF-1 metabolite, for Phelan-McDermid syndrome in children and adolescents

Variants in RPAP3 are associated with Normal-Pressure Glaucoma

Diagnostic Yield of Exome Sequencing in Adults with Rare Disease: An Eight-Year Retrospective Study

Durable efficacy and safety of DTX301: Long-term follow up of a phase 1/2 trial in adults with ornithine transcarbamylase deficiency

A Framework To Identify Individuals at Low Risk of Disease In the Population

Neuropsychological Trends in Beck Fahrner Syndrome: Disrupted DNA Demethylation Machinery and Effects on Executive Function

Pathological Characteristics and Alterations in Proteomic Profiles of preclinical models Harboring Patient-Derived Point Mutation in the WDR45 Gene

Evaluation of the Genotypic and Phenotypic Spectrum of Pediatric ABCC6 Deficiency

Abdominal Compression Syndromes in the Ehlers-Danlos Syndrome

A Multicenter Descriptive Study of 176 Neonatal-Onset Urea Cycle Disorder Patients Hospitalized in Level IV Neonatal Intensive Care Units

High Prevalence of Sitosterolemia in the Middle East: Insights from Genetic Prevalence Estimates

Prenatal-onset hypertrophic cardiomyopathy in 54 patients with RASopathies: understanding phenotype-genotype correlations for risk stratification, medical management and targeted therapies

Clinical Validation of Droplet Digital Polymerase Chain Reaction (ddPCR) for SMN1 and SMN2 Copy Number Determination in Newborn Screening

Project FIND-OUT: Outpatient Genome Sequencing in Expanded Pool of Symptomatic Infants at Risk for Genetic Neurodevelopmental Disorders Provides Earlier Diagnoses

Truncating Variants in APOB Are Not VUS When Screening for Familial Hypercholesterolemia

Clinical and personal utility of population screening for neurodevelopmental psychiatric copy number variants and sex chromosome aneuploidies in 580 adults

Endocrinopathies in TAOK1-Related Neurodevelopmental Disorders: An Expanded Case Series on the Evolution of Symptoms in Adolescents and Young Adults

Scalable system-wide CYP2C19 pharmacogenomic testing reveals excess incidence of adverse events in metabolizers receiving inappropriate prescriptions

Deep Phenotyping of CTCF-Related Disorder

Advancing Diagnostic Precision in Rare Genetic Disorders: Insights from the University of Wisconsin Undiagnosed Disease Program

Inpatient Genetics Service and Testing Trends: A Retrospective Multi-Institution Analysis (2021-2024)

Significance of Near-Canonical Conserved Splice Region Nucleotides

Precision molecular diagnosis and treatment of vascular anomalies via ultra-deep genomic sequencing of affected tissue and a multidisciplinary care model

Neurocognitive Profile of ODLURO Syndrome: Emergent Overlapping Trends Across KMT2 Disorders

The Clinical Utility of Next-Generation Sequencing (NGS)-Based Genetic Testing in Pediatric Polycystic Kidney Disease

Investigation of the cooperation between Kmt2d and Tbx1 reveals shared developmental pathways in 22q11.2DS

Medical Biases and Misconceptions Impact Rett Syndrome Diagnoses in Males

Impact of Measuring Mitochondrial DNA Heteroplasmy Rates Using Different Tissues in 103 Patients with Mitochondrial Disease

Investigating Sex Differences in the Behavioral Phenotypes of Phelan-McDermid Syndrome, Tuberous Sclerosis Complex, and PTEN Hamartoma Tumor Syndrome

Continued Clinical Improvements in Adults with Acid Sphingomyelinase Deficiency after 3-5 Years of Olipudase Alfa Treatment: Final ASCEND Trial Results

Comprehensive Phenotypic Spectrum of MED13L Syndrome: Insights from Literature and the National Brain Gene Registry

Safety profile and adherence of vosoritide in young children with achondroplasia in Japan

Disparities in Clinical Genetic Testing of Patients with Vascular Malformations: A Single Site Experience

Real-world Trofinetide Dosing for Rett Syndrome: The LOTUS Study

Molecular Diagnosis Actively and Immediately Changes Treatment Plan in Patients Clinically Diagnosed with Congenital or Idiopathic Spinal Deformities

Applying data science methodologies with artificial intelligence variant reinterpretation to map and estimate genetic disorder prevalence utilizing clinical data

Interdisciplinary Variant Re-Classification: FGFR3 as an example of genotypic investigation in suspected skeletal dysplasia population

Inequities in Eligibility for Cystic Fibrosis Modulator Therapy Based on Pathogenic/Likely Pathogenic CFTR Gene Variants Identified Through Carrier Screening

Assessment of factors driving disparities in clinical uncertainty for patients seen in adult medical genetics clinics

The clinical spectrum of the Fetal Fentanyl Syndrome in 23 cases

Solving for PS4

Investigating Racial Differences and Genotype-Phenotype Variation in Marfan Syndrome: A Retrospective Analysis of Genetic and Clinical Features

Linkage Disequilibrium Between SLC12A3 and HYDIN Pathogenic Variants in The Old Order Amish Community

The ClinGen Variant Curation Interface (VCI) to support direct submission and tracking of submissions to ClinVar

Systematic Literature Review of GLA Variants Uncovers Additional Fabry Disease-Causing Variants

Effects of Early Androgen Therapy on Infant Temperment in Males with 47,XXY

Discovery of Rare Disease variants specific to populations using genomic data from diverse populations in All of Us

Clinical outcomes for patients enrolled in the MPS VII disease monitoring program (DMP)

Implementing Genetic Testing and Counseling in a Rare Lung Diseases Clinic at a Pediatric Tertiary Care Center

Genome sequencing after negative exome sequencing: Results in a rare disease cohort

Gastrointestinal manifestations of Osteogenesis Imperfecta: clinical description, standardized screening development, and guideline application for early intervention in the pediatric population

Automating Pharmacogenomic Annotation: Leveraging Schema Constrained GPT-4 for Variant-Drug Data Extraction

Characterizing the Phenotypic and Imaging heterogeneity of SCA27B: Insights from a Retrospective Analysis

Exome sequencing utilization and diagnostic rate in an adult genetics clinic

The eXtraordinarY Babies Study: Evolving Parental Perspectives and Priorities While Raising a Child Prenatally Diagnosed with Sex Chromosome Trisomy

Diagnostic yield of genome sequencing after non-diagnostic exome sequencing: a retrospective review of 118 cases at a single institution

A family-based approach to cascade genetic testing in a pediatric cancer clinic: challenges in test uptake and utility

Clinical outcomes of MYBPC3 variant carriers in a diverse cohort of patients with hypertrophic cardiomyopathy

Exploring precision medicine through genome sequencing for patients suspected of rare genetic disorders

Extending the interval between pegunigalsidase alfa infusions in patients with Fabry disease: five-year interim results from the ongoing BRIGHT51 study

A Novel Clinical Process to Expand Genetic Testing Access to Patients with Neurodevelopmental Disabilities

Diagnostic Yield of Ultra-rapid Whole Genome Sequencing in the NICU: A Retrospective Review of 324 Cases at a Single Institution

Sleep in Angelman Syndrome:Data from the Natural History Study

Sociodemographic Factors Associated with Positive Genome Sequencing Results in Infants with Congenital Heart Disease

Real-world Use of Trofinetide: A Survey of Dosing Strategies from US Rett Syndrome Centers of Excellence

HYALINE FIBROMATOSIS SYNDROME: MUSCULOSKELETAL MANIFESTATIONS AND BONE HEALTH

Splice rescue of protein-truncating variants is associated with reduced selection pressure and attenuated disease phenotype

Clinical profiles of 134 patients with alpha-mannosidosis from the velmanase alfa clinical program and SPARKLE registry

Optic genome mapping reveals a complex chromosome rearrangement disrupting SYT1 in an individual with a neurodevelopmental disorder

Consistent Genetic Loci Across Different Case Definitions of Kidney Stone Disease: GWAS Findings from the UK Biobank 500K Cohort

Expanding Access to Genomic Services in Primary Care: A Retrospective Review of the Primary Care Precision Medicine (PCPM) Clinic

Longitudinal Patterns of Antidepressant Usage in the Context of CYP2C19 Genotype Among All of Us Participants

Aortic root dilation is an underrecognized cardiac manifestation of Fabry disease

Racial Disparities of VUS Results - Pediatric Neurodevelopmental Disorders

Reanalysis of pediatric exome and genome sequencing identifies a high prevalence of actionable pharmacogenetic alleles in children

Next-generation phenotyping facilitates the identification of structural brain malformations in rare disorders through computational brain MRI analysis

Mental Health and Quality of Life in Thoracic Aortic Disease: Evaluating the Impact of the MacNew Instrument and Support Resources​​​​​​

ClinVar-based reanalysis in the UDN cohort

Phenotypic predictors of dual genetic diagnosis in people with autism

Enhancing Copy Number Variant Analysis in Exome Sequencing with Backbone Probe Optimization

Addressing Undiagnosed Diseases in a Developing Nation: The Indian Undiagnosed Diseases Program

Transformative Care Through Genome Sequencing: Insights from the First 100 Patients in the CincyKidsSeq Study

The eXtraordinarY Baby Study: Natural History of Infants Identified with XXYY in the Prenatal Period

Exploring Ophthalmological Diagnoses in the Undiagnosed Diseases Network: Insights and Implications

Identification of rare genetic diseases clusters in the Colombian pacific region: clinical, molecular, and geographical characterization

Incidentally Identified Twin Chimerism: A Case Series

Penetrance and Phenotypic Findings of Cardiovascular Variants Identified from Biobank, Secondary, and Unanticipated Findings in an Adult Clinical Cohort

Two Copies, One Condition? Understanding APOE Allele State in over 14,000 Symptomatic Patients

Does sponsored genetic testing for pediatric epilepsy expand access?

A Decade of Rapid Exome Sequencing at a Tertiary Care Center

Development of a Clinical Global Impressions (CGI) Scale for Individuals with Kabuki Syndrome

Risk Factors Correlating With MC4R Pathway Variants on Genetic Testing

Impacts of stigma on adults with thalassemia in the US: Who is impacted and what can we do?

Most Infants with Prenatal Osteogenesis Imperfecta Diagnosis and Poor Prognosis Survive Without Requiring Long-term Respiratory or Feeding Support

Retrospective Characterization of Genetics Work-Up for Individuals with RASopathy Diagnosis

Enhancing Genomic Data Accessibility with Hypothes.is Parsing Tool for Variant Annotations

JOURNEY: A natural history study of limb-girdle muscular dystrophies R3-R5: baseline characteristics of study cohort

A Prolonged-Release Formula Has a Positive Impact on Morning Phenylalanine and Tyrosine Fluctuations in Patients with Classical Phenylketonuria (PKU)

Analysis of the Clinical and Genetic Characteristics of Twelve Skeletal Disorders in Mexican Patients

Diagnostic utility of exome sequencing in patients with suspected mitochondrial disease: A Single-center Experience

Biochemical Loss-of-Function Data for SIM1 Increases Probability of Clinical Weight Loss Response to the MC4R Agonist Setmelanotide

Exome Sequencing in Patients with Primary Hyperparathyroidism Identifies Pathogenic Variants after Negative Panel Testing

A Review of Phenotypic and Genetic Data in Craniofacial Microsomia Cases from a Multidisciplinary Craniofacial Clinic

Disease characteristics and tissue frataxin concentrations in adults with Friedreich's ataxia participating in nomlabofusp interventional studies

RNA and Reclassification: Assessing RNA Data in Rare Disease

Disparities in Variants of Unknown Significance Identification in Underrepresented Populations Undergoing Outpatient Genetic Testing at UMass Memorial Healthcare

Assessment of Interpupillary Distance in a Racially/Ethnically Diverse Pediatric Sample from Electronic Health Record Data

A novel method for predicting Lp(a) levels from routine outpatient genomic testing identifies those at risk of cardiovascular disease

Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: a systematic review and meta-analysis

Detection of Copy Number Variants by Chromosome Microarray Verses Exome Sequencing at a Single Clinic over an Eight Year Period

Evaluating indication for testing based on cluster analysis of human phenotype ontology terms

Identification and Diagnostic Protocol for Suspected Acid Sphingomyelinase Deficiency in a Medical Genetics Service in São Paulo

Clinical Utility and Diagnostic Yield of Comprehensive Genetic Testing in Adults with Intellectual and Developmental Disabilities: A Single-Center Experience

Gastrointestinal emergencies in Cornelia de Lange Syndrome: Clinical characteristics and outcomes from a Single-Center Study

CHEK2 and Pediatric Cancer Predisposition

Smart Categories: LLM-Based Automatic Tagging of Categorical information in Genomic Articles Outperforms Manual Curators Yielding Improved Curation Efficiency

A Clinical Practice Guideline for Genetic Testing in Perinatal Demise: Enhancing Diagnosis Through Multidisciplinary Collaboration

Precision Medicine in Action: Implementation and utility of pharmacogenomic testing in a clinical setting

Polygenic and rare variant contributions to the genetic architecture of familial hypercholesterolemia in a Mexican registry cohort.

Clinical Responses to Off-Label Use of Phenylbutyrate for STXBP1 and SLC6A1

Evaluating the Role of Bevacizumab in Reducing Epistaxis in Patients with Hereditary Hemorrhagic Telangiectasia: A Systematic Review and Meta-Analysis

How helpful are sleep studies in determining surgical need in infants with achondroplasia?

Evaluating the Clinical Utility of a Cross-Ancestry Integrated Risk Score for Coronary Artery Disease Prevention

Obesity Prevalance in DDX3X-Related Neurodevelopmental Disorder

Clinical practice guidelines for the diagnosis, management, and surveillance of people with LMNB1 related autosomal dominant leukodystrophyA Consensus-Based Approach

Analysis of chromosomal abnormalities associated with early pregnancy loss

Abdominal Aortic Aneurysm in Males as the Predominant Presentation of Vascular EDS in a Family With a Novel COL3A1 Variant

Identifying new genotype/phenotype correlations for individuals carrying deleterious RERE variants

The Role of Large Language Models in Medical Genetics

Clinical Symptom Severity Correlates with Communicative Functioning Difficulties in Cornelia de Lange Syndrome

Research analysis of clinical exome sequence data to detect diabetes-related genetic variation

The ClinGen Congenital Disorders of Glycosylation Gene Curation Expert Panel

Preliminary Findings from the ABCDEFG (Adult Brain Cohort - Dissecting Efficacy and Efficiency of First-line Genome-wide sequencing) Study

Real-world Use of Trofinetide: A Survey of Tolerability from US Rett syndrome Centers of Excellence

Molecular and clinical diagnostic outcomes of a changing workflow for hypermobility and Ehlers-Danlos syndrome referrals

Understanding the disease mechanisms and copy number variations at 17p11.2 locus that do not encompass the dosage sensitive RAI1 gene

Establishing Episignatures as a Diagnostic Tool for Diabetic Embryopathy

Rapid Exome/Genome Sequencing in acute paediatric settings influences acute and long-term management of patients and their families

Deep Phenotyping of thirty-one cases of Aicardi-Goutières syndrome

Exome sequencing for diagnostic investigation of 267 children from Brazilian public health system (SUS) followed by reanalysis of negative/inconclusive cases

Testing concordance of pathogenicity predictions from orthogonal machine learning algorithms and signal to noise analysis

Variant classification is negatively impacted by the absence of biochemical data in published patient reports

Studying the role of the DIP2C gene in humans and zebrafish

Four Infants with Genetic Variants Previously Associated with Lethal Osteogenesis Imperfecta Who Survived the Neonatal Period: A Case Series

Targeted long-read sequencing of native DNA for genetic disease diagnostic and screening research

A Comprehensive Analysis of Variations in Sexual Characteristics across OMIM

Identification of a Novel Homozygous TMEM53 Variant in a Patient with Extensive Homozygosity:Classification Challenges Despite Phenotypic Consistency with Craniotubular Dysplasia

Characterizing the impact of race, ethnicity, and genotype on heart failure outcomes in nonischemic cardiomyopathy

Nine categories of pitfalls in initial genetic testing for rare disorders reporting inappropriate negative, inconclusive or positive results

Predicting the Significance of Variants in Parkinson's Disease

Short Stature and Partial Lipodystrophy along with Hypersomnolence and PCOS: Rarity and Phenotypic Expansion of SHORT Syndrome

Frequency of Rare Syndromic Diseases in a Population With Early-Onset Obesity

Novel variations in GLI3 zinc-finger transcription factor identified in Indian patients with polydactyly and syndactyly

Vosoritide as a targeted therapy for FGFR3-related thanatophoric dysplasia

Detection of PTEN Hamartoma Tumor Syndrome (PHTS) and Related Conditions with macrocephaly and lipomas using Electronic Health Record (EHR)Triage.

Prediction of tissue frataxin levels with long term administration of nomlabofusp in adults with Friedreich's ataxia using modeling and simulations

Multimodal Analysis of Language Regression Using Genome Sequencing, Neuroimaging and Neurophysiologic Findings in a Cohort of Minimal-to-Nonverbal Autistic Children

Genetic Characteristic of Thai Patients with Primary Craniosynostosis

Expanding the Phenotypic Spectrum of the Nuclear Speckleopathy SRRM2-related Neurodevelopmental Disorder

Validating array genotype data in the Million Veteran Program (MVP) for actionable, clinically significant rare variants.

Long-Read Genome Sequencing to Diagnose Rare Disease in a State-Funded Study

Analyzing the Genetic Causes of Pediatric Inherited Cardiomyopathy in Middle Eastern Patients

Effect of Celiprolol on Prevention of Cardiovascular Events in Vascular Ehlers-Danlos Syndrome: A Systematic Review and Meta-Analysis

A Comprehensive Workflow for Diagnosis and Management of Rare Bone Diseases by Integrating Deep Phenotyping and Genetic Analysis

Diagnostic Yield and Clinical Decision-Making in Hereditary Connective Tissue Disorders: Insights from an Adult Genetics Clinic

Design of the ACCEL study: A Prospective Clinical Assessment Study in Children with Hypochondroplasia

Clinical Genome Sequencing in the Neurodevelopmental Clinic: A Single Center Experience

CHARACTERISTIC NEURAL TUBE DEFECTS AND OVERLAP INOEIS COMPLEX AND LUMBAR SYNDROME

Pathogenic variant in DACH1 may cause a new neurodevelopmental syndrome with hearing loss and nephropathy

Genetic Evaluation of Short Stature: Examination of Ordering Practices and Diagnostic Yield

Beyond Boundaries: The Continuous Spectrum in FGFR3-Related Conditions

Overall experience and satisfaction of genetic clinicians with electronic health records (EHR)

Implementing Preemptive Pharmacogenetic Testing in Populations to Mitigate Adverse Cardiovascular Events and Identify High-Risk Individuals

Microdeletion and Microduplication of 15q11.2-q13 share a neurodevelopmental phenotype.

Distinct Pathways: Exploring Rare Clinical and Genetic Presentations in Breast Cancer Associated Hereditary Cancer Syndromes

Radio-Tartaglia Syndrome in Males, Clinical Data Indicate a Relatively Mild Phenotype with Predominantly Psychiatric Symptoms

Defect Detect: Evaluating Diagnostic Rates of Genetic Testing in Infants with Congenital Heart Defects

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

Pediatric Neurologists' Decision-Making Regarding Genetic Testing for Patients with Developmental Delay/Intellectual Disability: A Nationwide Survey in Japan

Genetic Counseling for Clinical Sequencing: Addressing Variants of Uncertain Significance in Rare Disease Diagnosis

Expanding the Phenotypic Spectrum of ADAMTS2 related Ehlers-Danlos Syndrome, Dermatosparaxis type

Let It Grow: Expanding the Phenotype of PPP3CA Mutations to Include Failure to Thrive

Genome Sequencing (GS) as a First Test in a Genetics Clinic for Adults.

TWIST related disorders in two Mongolian adolescents: case reports and review of the literature

Mulvihill-Smith syndrome in a Mongolian adolescent: a case report and review of the literature

Mixed and blended Phenotype of Sotos Syndrome and KBG Syndrome: Clinical Features in a Girl with Both Syndromes

PATIENT WITH A NOVEL STAG2 MATERNALLY INHERIETED MUTATION AND A NOVEL CELSR3 DENOVO VARTIANT

Case Study of Yp11.31 Deletion in XXY Phenotypic Female

Chromosomal Rearrangements Resulting in Beckwith-Wiedemann Syndrome and Beyond

Mosaic 46, XY / 47, XXY With SRY Deletion in a Female With Complete Gonadal Dysgenesis: The Second Documented Case

The Importance of Karyotyping in an Age of Sequencing: A Rare Cause of Campomelic Dysplasia

An Unusual Cause of Hexokinase 1 Deficiency

Follow the Family History: Neonatal Diagnosis of YARSopathy and Congenital CMV

Identification of CNKSR2 Pathogenic Variant and Detection of Strong X-chromosome Inactivation in a Female with Severe DEE-SWAS

Genotype-Phenotype Analysis of Interstitial Deletion of Chromosome 4q25q28.2: A Case Report

Alpha-Mannosidosis: A Case Report on Diagnostic Challenges, Enzyme Replacement Therapy, and ongoing Hematopoietic Cell Transplantation

A New Case of Fucosidosis with a Novel Homozygous Pathogenic Variant and a 17.2 Mb Region of Homozygosity

Atypical Reactions to Infantile Spasms Medications in a Child with UNC80 Deficiency

Familial presentation and variability in TRPV4 Brachyolmia Type 3

Identification of a PTH1R Gene Variant in a Family with Primary Failure of Tooth Eruption: A Case Report

Expanding the Phenotype of EBF3-related Disorders- A Case of Pierre Robin Sequence with Cleft Palate

An Atypical Presentation of Werner Syndrome in a patient with a novel likely pathogenic variant in WRN: A Case Report

An Atypical Case of Pseudohypoparathyroidism 1b due to Uniparental Hetero- and Isodisomy Detected by Genome Sequencing

A Rare and Treatable Cause for Unexplained White Matter Lesions: Partial Biotinidase Deficiency

Unique Case of Mosaic 8q21.1-q24.3 deletion and duplications Linked to Langer-Giedion and Cornelia de Lange Syndromes Presenting with Recurrent Fractures

Closing the loop: biochemical analysis and the VUS dilemma

An elusive diagnosis of congenital methemoglobinemia type II

A Case Report: Expanding the Phenotypic Spectrum of EIF5A-Related Neurodevelopmental Disorder

Novel Presentation of Congenital Bile Acid Synthesis Defect-3 with Skeletal Abnormalities and Hypotonia

GM3 synthase deficiency: case report of an atypical presentation

UGT1A4*3 ultrarapid metabolizer genotype: A case report

Case Report: Snijders Blok-Campeau Syndrome (SNIBCPS) and Chronic Pancreatitis; Expanding the Phenotype.

Incomplete Penetrance Associated With A Familial Loss of Function NAA15 Variant

Novel Inheritance Pattern of Marfan Syndrome due to FBN1 Translocation: Diagnostic Utility of FISH and Implications for Genetic Counseling

Expanding the phenotype of biallelic variants in the MYBPC3 gene: sudden death in a teenager with a structurally normal heart.

Biallelic Pathogenic Copy Number Variants in VPS13B Resulting in Cohen Syndrome

Thirty-Year Odyssey to Dual Diagnoses: Value of Longitudinal Genetics Follow-Up

A case of Neurodevelopmental-Craniofacial Syndrome with Variable Renal and Cardiac Abnormalities due to a de novo heterozygous ZMYM2 pathogenic variant.

High-throughput sequencing technologies uncover a loss-of-function variant of the GATAB2B gene in a GAND patient

RAD51-Related Fanconi Anemia is Commonly Associated with VACTERL: Expanding the Phenotypic Spectrum with a Fifth Reported Case

Expanding the genotypic and phenotypic description of an ultra-rare condition: A neonatal presentation of spondylo-ocular syndrome

Inherited SHANK1 pathogenic variant in 3-year-old male with neurodevelopmental delay, behavioral challenges, laryngomalacia and overgrowth: a case report

Expanding the phenotype of 16p11.2 Microduplication Syndrome: Different presentation in three family members with new clinical findings

ACTC1 variants result in a phenotype resembling Noonan syndrome

Hutchinson-Gilford Progeria Syndrome due to homozygous missense variant of LMNA gene

Recurrent TRAPPC11 variant in South Dakota's Hutterite Population

Further Delineation of the ACTG1-Associated Baraitser-Winter Cerebrofontofacial Syndrome Phenotype

TACSTD2-Related Gelatinous Drop-like Corneal Dystrophy: An Asymmetrical Exception

Clinical Spectrum of Autosomal Recessive Spliceosomal Gene CWC27 Variants

A Case Report of Meckel Gruber Syndrome: Identification of an Unreported Variant Correlating with Diagnosis

Macroglossia and elevated lactate as initial presenting features for cardiofaciocutaneous syndrome

Alport syndrome with a Novel COL4A3 Gene Alteration presenting with recurrent vertebral artery dissections: Case report and Literature Review

Case report: Lymphedema, large spinal cyst, and myelopathy in a pediatric patient: Autosomal Dominant Lymphedema-Distichiasis Syndrome (LDS).

Beyond NGS: Detailed Analysis of Sanger, MLPA and RNA Confirms Tuberous Sclerosis Complex in Clinically Diagnosed Patients

VPS50-Related Neurodevelopmental Disorder: Insights from the Fourth Reported Case

Late Onset Biotinidase Deficiency Misdiagnosed as Neuromyelitis Optica: A Case Report and Review of Diagnostic Challenges

Identification of a Novel RPS6KA3 Variant in a Female Child with Features of Coffin-Lowry Syndrome: A Case Study

Decoding Mosaicism: Unraveling the Mystery of PTCH1 Variants in a Novel Neurocutaneous Syndrome

Rare Adult Case of Stüve-Wiedemann Syndrome

New Familial Variant Identified in CSDE1-Associated Neurodevelopmental Disorder

Male non-lethal FLNA phenotypes: medical and counseling challenges

PTEN and WDR19 Variants in a Neonate with Brain and Cutaneous Anomalies

Improvement in Refractory Bone Pain with Infliximab in an Adolescent with Camurati-Engelmann Disease

First Report of an Inherited MYCBP2 Neurodevelopmental Disorder: Review of Proband and Parent Presentation

Novel UBA1 Variant Associated with Attenuated X-linked SMA Phenotype

Characterization of a Balanced Translocation Disrupting SOX9: Implications for Campomelic Dysplasia

Considerations and Challenges in Genetic Testing for Hypermobile Ehlers-Danlos Syndrome (hEDS): A Multidisciplinary Overview

A 6-Year-Old Male Presenting with X-Linked Intellectual Development Disorder Due to a Unique Pathogenic Truncating Variant in IL1RAPL1

Case Series of Nizon-Isidor Syndrome by heterozygous variants in MED12L with one case generating chromosomal instability through Diploid-Triploid Mosaicism

Cartilage-Hair Hypoplasia: Expanding the Association of Severe Prenatal Skeletal Findings

Exploring Genotypic Diversity in Angelman-Like Syndromes: Clinical Implications

KAT7 variants cause deficient histone acetylation in a new neurodevelopmental disorder with cerebellar anomalies.

A Case Report Using Ancestry-adjusted Genome-wide Polygenic Risk Scores with 7,000 Serum Protein Testing to Improve Intervention and Outcome

Bilateral pheochromocytomas in Von Hippel-Lindau disease

A Case of Developmental and Epileptic Encephalopathies Without Epilepsy

Complex mosaicism for up to three marker chromosomes causing partial trisomy for portions of 1p and 10p-10q: a case

New Pathogenic Variant in WT1 Disorder in Previously Healthy 3-Year Old Patient

Enhanced Diagnostic Precision: A Case Study Supporting Broad Genetic Testing in the Evaluation of Skeletal Disorders

Aqueductal Stenosis and Hydrocephalus in TUBA1A-Associated Tubulinopathy: Expanding the Genotypic and Phenotypic Spectrum

Genome sequencing reveals a novel, homozygous in-frame deletion, c.367_375del, in CYP2U1 in twin sisters with early onset spastic paraplegia

Identification of ZMIZ1-related Neurodevelopmental Disorder in Neonates with Atrioventricular Septal Defects: Expansion of Phenotypes and Implications for Counseling

Partial de novo SOX6 duplication in a patient with macrocephaly, overgrowth and developmental regression

Genetic Insights into Snijders Blok Campeau Syndrome: A Case Study of a Homozygous CHD3 Variant and Comorbidities

PIK3CA-related Overgrowth Syndrome: To Exome or Not?

A Novel MRTFB Missense Variant, c.479T>C p.(Leu160Pro), in a School-Aged Girl With Neurodevelopmental Disorder

Case Report of Pediatric Onset CSF1R-Related Disorder

Broadening molecular and phenotype spectrum including thrombocytopenia in KAT6A-associated condition

Novel Biallelic LIG3 mutations causing lethal phenotype of mtDNA depletion syndrome 20; a case solved by multi-omics research re-analysis

Congenital knee and hip dislocations with brain malformation in an infant with a supernumerary chromosome +der(9)t(5;9)

Kleefstra Syndrome-1 Presenting with Peters Anomaly and Syndactyly: Phenotypic Expansion

FLNA Deficiency in a 27-Year-Old Woman: Spontaneous Pneumothoraces and Unique Lung Histopathology

Expanding the Phenotype: A Novel Case of VPS45 Deficiency with HLH and Progressive Neurological Involvement

Research re-analysis of raw genomic data leads to the first described inherited case of CLDN5 in two brothers.

A case of bilateral congenital hypoplastic testes leading to an unexpected diagnosis of X-linked trichothiodystrophy

A Rare Presentation of 1q32q42 Associated with a Complex Adverse Phenotype

Mosaic double aneuploidy: a rare case of 45,X/47,XX,+18 mosaicism and review of the literature

A Missense and Nonsense Variant Combination in COASY Resulting in Severe Prenatal Onset PCH12: Expanding the Clinical and Genetic Spectrum

Deletions of the 19q13.11 region involving SCN1B are risk factors for febrile seizures

Cleidocranial Dysplasia (CCD): a genetic tale of time where bones bend and knowledge expands.

Hunter Syndrome and Hemophilia A: A Case of Two X-Linked Syndromes Occurring in One Individual

Atypical Presentation of Alexander Disease in a 4-Month-Old Infant: Emphasizing the Importance of Integrated Genetic and Biochemical Testing

Incidental Findings in Rapid Exome and Genome Testing in Pediatric ICU: Clinical and Psychological Implications

Expanding the Phenotype of Newly Described ZBTB47-related Neurodevelopmental Disorder

10p12.1p11.21 microdeletion including WAC and ZEB1: A case report and literature review

Unpacking Genotype-Phenotype Correlation in DNM1 Encephalopathy: Two unusually mild cases with variants in the GTPase and proline-rich domains

Familiar Segregation of Autosomal Dominant of 46,XY DSD With Mutation in NR5A1

From Short Stature to Facioscapulohumeral Muscular Dystrophy-2: The Benefits and Challenge of Broad-Based Sequencing

Expanding the Phenotype of Dyggve-Melchior-Clausen Syndrome and Smith-McCort Dysplasia: A Rare Case of Skeletal Dysplasia

Early Diagnosis and Clinical Phenotype of GAND Syndrome

Tetrasomy 9p in a patient affected with dilated cardiomyopathy: incidental finding or extended phenotype?

NFIX variants may cause a neurodevelopmental disorder without the dysmorphic features of Malan syndrome

A Novel SCN5A Variant of Unknown Significance in Brugada Syndrome: A Case for Reclassification

Cerebellar Ataxia, Impaired Intellectual Development, and Disequilibrium Syndrome-2: Expanding the Phenotype

Dual diagnosis in a patient with mosaic Trisomy 22 and a de novo frameshift variant in ASXL3

Enhanced Access to Genome Sequencing and the Era of Multiple Genetic Diagnoses: Advantages and Limitations

Unmasking Turner Syndrome in a Patient with Long QT Syndrome: A Case Report and Review of Clinical Implications

Learning from Artificial intelligence: Leveraging AI to Modify a Direct-to-Consumer Genetic Testing Point of Care Tool.

Utilization of a REDCap GeneResultTool for Returning HFE Pathogenic Results

Preaching to the Choir: Genetics Providers Must Break Out of Their Silos to Integrate Genomics in All of Medicine

VEPerform: A Web Resource for Evaluating the Performance of Variant Effect Predictors

Review of genomic education in the preclerkship at U.S medical school

Distinction in Genetics in the Preclerkship: a Pathway to Enhance Medical Students Exposure to Clinical Genetics.

Leveraging DNA Methylation Towards Comprehensive Rare Disease Diagnostics

Exploring the Influence of Genetic Literacy on Research Participation Among Underrepresented Populations

The First Online Genetic Assistant Training Program: Curriculum, Student Demographics and Outcomes

Lamin A/C-Related Dilated Cardiomyopathy: Patient-derived Induced Pluripotent Stem Cells to Study Mutation and Cell Type-specific Pathogenic Mechanisms of Heart Disease

Achieving Consensus on a Prenatal Patient Education Resource about Spina Bifida

Family Members' Knowledge and Perspectives on Alzheimer's Disease in People with Down Syndrome

Patient Uptake of Genetic Counseling in the eMERGE Network: Initial Experiences Returning Polygenic and Monogenic Results using Microsoft Bookings

Put It in the Tracking Database!' Using REDCap to Enhance Patient Outcome Tracking in a Tertiary Genetics Clinic

Family Ties: A Detroit Community Hospital Quality Improvement Project to Improve Post-Test Genetic Counseling for Patients Tested by Non-Genetics Providers

Characterizing a Cohort of Parkinson's Disease Patients and Controls in a Peripheral Biomarker Development Study

First Report of two cases of ReNU (RENU) syndrome from Southeast Asia

Hyperammonemia in the Acute Catabolic State

Chatbot-assisted Informed Consent in Genomics Research

Diversity of Brazilian Ancestry in 3 Cohorts: Challenges and Insights for Precision Medicine

Disparities in Access and Outcomes for Hospitalized California Patients with Huntington's Disease (HD).

Payer Perspectives of Genomic Testing: Results from a Systematic Literature Review

Prenatal Aneuploidy Screening and Testing Decisions: A Qualitative Study of Patient Motivations and Misconceptions in the Age of Cell-Free DNA

Examining Sociodemographic Factors Associated with Genomic Research Participation: Evidence from a Pediatric Rapid Sequencing Study

Assessment of Inborn Errors of Metabolism genes on the Recommended Uniform Screening Panel using the ClinGen Clinical Validity framework

Rare Disease Support Networks Lack Accessibility for Non-English Speaking Patients.

Identifying Unmet Needs: Experiences of Black and Latin-X Pregnant People Undergoing Prenatal Diagnosis for Ultrasound Identified Fetal Anomalies

Assessing the Value of Rare Disease Research: A Qualitative Study of Investigators' Perspectives

Implementing Next-Generation Sequencing as Part of Newborn Screening in State Public Health Laboratories: Status and Barriers

The Perception of Disability in Prenatal Genetic Screening and Counseling: An Ethical Analysis of Current Practice

ScreenPlus Parental Attitudes on the Use of Residual Dried Blood Spots

Newborn Sequencing: Approaches taken by programs around the globe

Prenatal Genomic Testing and Abortion: Parental Perspectives in the Context of a Fetal Structural Anomaly

Developing a Press Release Guide for Ethical, Legal, and Social Issues of Genomic Research

Participants' Experiences with and Perspectives on Genomic Research in the University of Wisconsin Undiagnosed Disease Program

FROM DEFICIT TO DIFFERENCE: DEPATHOLOGIZING THE LANGUAGE OF GENETICS

The Impact of Patient Race and Polygenic Risk Scores on Genetic Counselors' Risk Assessment and Management in Breast Cancer Vignettes

Implementing Homocysteine into First-Tier Mass Spectrometry Tests in Newborn Screening for Detection of Homocystinurias in New York State

Ableism and Modern Eugenics in Heritable Human Genome Editing

Assessing the Impact of Provider-Patient Ethno-Racial and Linguistic Concordance on Knowledge and Attitudes of Underrepresented Populations towards Genetic Counseling

Adolescents' experiences and perspectives of genetic testing and its personal utility

Parental Perspectives on Pediatric Genomic Testing, Research, and Data Management in a Multicultural Population

Exploring Attitudes Towards a New Genetic Test: Potential Applications and Ethical Considerations of Parent-of-Origin-Aware Genomic Analysis

Evaluation of Researcher Knowledge and Attitudes of Community Engagement in Genomics Research and Biobanking

Atypical and Extra Sex Chromosomes: A case series of the increasingly abnormal sex chromosome aneuploidies referred to medical genetics.

The impact of consanguinity on birth outcomes: implications for healthcare and genetic counseling practices in the United States

Long-chain fatty acid oxidation disorders: A review of newborn screening around the globe for LC-FAOD

Pharmacogenomic Implications of Genes on the American College of Medical Genetics Secondary Findings List

Decreasing disparities in inherited cancer syndromes through a systems approach, the At-Risk Cancer Genetic Syndrome Identification (ARCAGEN-ID) system

Rapid Genomic Testing: A Retrospective Study of Institutional Utilization and Outcomes

Multidimensional Utility of Genomic Autopsy for Infant Mortality

Comparing automated vs. ACMG/AMP-based variant interpretation for the CDC Tier 1 conditions in a clinicogenomic cohort from US-based health systems

Customized 'Clinical Interpretive Reports' of Genomic Sequencing Results for Non-Genetics Providers in Safety-Net Neonatal Intensive Care Units: Development and Implementation

Improved breast cancer screening adherence among participants receiving a negative result from a multi-health system Population Genomics Screening program

Pathways to Precision Cancer Care: Integrating Genetic Services into a Nationwide, Risk-Adjusted Cancer Program

Screening Newborns for Type 1 Diabetes Risk: The Early Check Experience

Rapid Genome Sequencing Identifies Treatable Conditions in Non-critically Ill Hospitalized Children

What Comes Next?: Follow Through Care for Infants with Rare Genetic Conditions

Comparison of high polygenic risk score for hypercholesterolemia and Familial Hypercholesterolemia risk in the eMERGE IV study

Unique outcomes from curated genome sequencing for newborn screening: Challenging results from the Early Check project

Parental needs during pediatric whole genome sequencing for developmental disorders: an interview study

A Scoring System to Balance Genetic Counselor Work across Different Clinics

Clinical Genomic Screening Informed Consent Concepts and Strategies: A Rapid Scoping Review

The Genetic Testing USAGE (Utility Survey in an Adult Genetics Environment) Study

Optimization of Clinical Efficiency: Evaluation of a Patient-Centered Alternative Genetics Care Provision Model for Individuals with Autism

Health Communication Needs and Preferences of Clinicians Returning Hypercholesterolemia Results

Predicted Outcomes of Universal Genetic Counselor First Appointments in a Pediatric and General Genetics Clinic

An efficient alternative model of genetic counseling to deliver services at the Saguenay-Lac-Saint-Jean region in Quebec.

Maximizing Equity in Newborn Screening via Reporting Variants of Uncertain Significance (VUS)

Assessing Patient Experience with Informed Consent for Genetic Testing in the Inpatient Setting

Developing an Actionability Framework for Population Genomic Screening

Implications and Ramifications of Using the CDC Tier 1 Genetic Screening Concept in East Asian Populations

Practical Implications and Results of Clinical Exome and Genome Order Review at a Pediatric Academic Medical Center

Perspectives from an Asian population regarding reproductive carrier screening implementation

Newborn Screening Follow Up in Rural Indiana: A 10-year Retrospective Review

The Initial Four-Year Experience of an Adult Genomic Health Clinic (GHC)

Adherence to clinical follow-up care in patients identified with familial hypercholesterolemia through population genetic screening program

Improving Access to Genetics Care through Development and Implementation of Standardized Education and Training of Advanced Practice Providers

Incorporating Genomic Medicine to Improve Risk Stratification in Severe Hypercholesterolemia: Comparing Implementation Outcomes from Two Health Systems

Mainstreaming Genomic Testing to Increase Diagnostic Accessibility for Adults with Intellectual and Developmental Disabilities

Impact of Population Genomic Screening on Patient Behavior and Care: Changes in Preventive Screening Behaviors Among HBOC Positive Individuals

Risk Factors for Malignant Hyperthermia Crises and Subsequent Complications to Inform Model Development for Population Newborn Screening

Assessment of Barriers to Breast MRI Screening in Individuals Identified as High-Risk for Breast Cancer

The Health Economics of Lynch Syndrome Screening in Colorectal Cancer: When Genetic Testing is Cost-saving in a Middle-Income Country

BeginNGS: Nest digital genetics navigator facilitates scale while preserving participant experience and education.

A Pilot Study to Evaluate the Influence of a Clinician Outreach Effort for VUS Resolution in Limb-Girdle Muscular Dystrophy

Enhancing Inclusivity in Public Health and Genetic Research Through Culturally and Linguistically-Tailored Genetics Education Materials

Enhancing Ultra-Rare Disease Diagnoses through Multi-Omics Integration and Multi-Site Collaboration in the Indiana University Undiagnosed Rare Disease Clinic (URDC) Cohort

Bi-allelic RAB5IF Variants Associated with Craniofacial and Skeletal Anomalies: Further Insights into CFSMR2 Syndrome

A multiplexing droplet digital PCR approach to obtain accurate CYP2D6 copy number in the presence of rare variants

ANALYTICAL PERFORMANCE EVALUATION OF WHOLE GENOME SEQUENCING AS FIRST-LINE GENETIC TESTING FOR INTELLECTUAL DEVELOPMENT DISORDERS AND CONGENITAL MALFORMATIONS

ClinGen Curation of ClinVar: Improving a Critical Community Resource

Genome Screening of Newborns: what can we find and what's next?

Learning phenotypes from 4M+ patients with paired genotypes and phenotypes

Genomics for KIDS in ASEAN: Improving access to genomic testing through regional collaborations in Southeast Asia

Clinical Impact of RNA Sequencing on VUS Resolution in a Diverse Rare Disease Cohort of Over 100,000 Patients

Reactive curation of monogenic gene-disease associations in a rapid genome sequencing lab

Detection of Chromosomal Mosaicism - The importance of Karyotyping and FISH

Excavator: Removing the Noise in Exome Analysis Using Machine Learning

Reevaluating the standard approach to genomic testing in infants: Targeted genomic testing vs. exome/genome sequencing as a first-tier test

Ten Years of Experience with an Iterative, Points-based Variant Classification Framework

Facilitating Machine Learning and Artificial Intelligence in Genetic Databases: An Open-Source Tool for Data Integration and Summarization

Mobile Element Insertion Detection in Genome Sequencing of a Cohort of Unsolved Cases

Functional screening of SMARCD1 genetic variants implicated in neurodevelopmental disorders using a novel Drosophila-based humanised rescue assay

Reflex RNA Sequencing for Enhanced Variant Classification on ES/GS Improves Patient Outcomes

StarPhase: Leveraging Long-Read Sequencing to Update Pharmacogenomic Benchmarks

Improving Rare Disease Diagnosis: Performance of an Automated Pipeline for Genomic Reanalysis

Automated reanalysis of clinical genomic data in undiagnosed patients

The clinical utility of genome sequencing in the molecular diagnosis of genes related to inborn errors of metabolism

Genomic breakpoint analysis facilitates the identification of X-chromosomal inversion among molecularly unsolved cases of Duchenne Muscular Dystrophy.

Considerations of Variant Interpretation in Galactosemia: Challenges of Creating ACMG Specifications for GALT

Introns to Insights: The Transformative Power of RNA Sequencing in the Diagnosis of Rare Genetic Disorders

Using Functional Data for VUS Reclassification in Cancer Predisposition Genes

Real-World Evaluation of ExpansionHunter for Detecting STR Expansions in Whole-Exome Sequencing Data: Insights from a Clinical Diagnostic Setting

Prognostic Factors for Pediatric Osteosarcoma

Scalable Classification of Rare Diseases Across Research Studies

Shades of Grey in a Binary World: Clinician Preferences for Appearance of Uncertain Results in the Electronic Medical Record

Founder effect and endogamy result in the high prevalence of Junctional Herlitz Epidermolysis Bullosa in a community from Southern India

Clinical Utility of Exome and Genome Sequencing in an Adult Cohort Referred for Suspicion of Underlying Rare Disease

A Clinical Laboratory's Approach to Curating Unexpected Variants in Pharmacogenes

Enhancing Interoperability to Enable Broader Adoption of Artificial Intelligence in Chromosome Analysis and Karyotyping: A Pilot Evaluation

Implementation of cfDNA Pancreatic Cancer Test in High-Risk Patients with Genetic and/or Family History of Cancer in a Clinical Setting

Classification of nontruncating variants in the PKD1 gene based on the large internal database

NEGR1 Intragenic Exonic Deletions Strengthen the Association with Neurodevelopmental Disorders

Empowering Clinicians to Resolve VUS: Presenting VUS Clarification Outcomes

Clinical features and molecular findings of a rare case of LGMDR18

Enhancing Genetic Diagnostics: The Critical Role of Enzyme Activity Assays and RNA-Sequencing as Primary Multi-Omics Screening Tools

The Evolving Genetic Landscape of Phelan-McDermid Syndrome and Implications for Diagnostics

RNA Analysis and Long Read Sequencing Identify Causative APC Complex Rearrangement in Unsolved FAP Case

Advancing Scientific Annotation: Introducing LEAP for Efficient Literature Review

Opportunities for precision medicine in hereditary disease inferred from large-scale, real-world diagnostic genetic testing results

Role of de novo variants in genetic disorders with new insights and clinical implications

Functional Studies in Fibroblasts Cultured from Patients with Inborn Errors of Vitamin B12 Metabolism

Performance evaluation of a PCR/Nanopore workflow for carrier screening for Cystic Fibrosis, Spinal Muscular Atrophy, and Fragile X Syndrome

Molecular diagnosis of DMD-related dystrophinopathies in patients with non-representative phenotypes by using a broad neuromuscular next generation sequencing (NGS) panel

Development of TAF1 genotyping assay for X-linked dystonia-parkinsonism-associated haplotype detection

Natural Language Processing for Deep Phenotyping of Patients Receiving Genomic Testing Enables Effective Gene Prioritization in a Clinical Diagnostics Pipeline

Improved Karyotyping Efficiency with Artificial Intelligence: a Multicenter Evaluation of Peripheral Blood Karyogram

A Single-Center Reevaluation and Reanalysis of Copy Number Variants of Uncertain Significance Detected by Chromosome Microarray From Consecutive Pediatric Patients

Opportunistic screening for broad range of clinically relevant secondary findings: Outcomes of exome analysis in the Incidental Genomics RCT

A Master in Mimicry: Expanding the Renal Phenotype of COL4A1-Related Disorders

Impact of Gene-Disease Specific Guidelines on Variant Reclassification in a Clinical Hereditary Cancer Setting

A Multi-Site Study of Constitutional Ring Chromosomes from 14 Cytogenetics Laboratories in the United States

An Ensemble Feature Selection and Nested Cross-Validation Approach Using miRNA Profiles for the Automated Detection of Usher Syndrome

Genetic Testing for Inherited Red Blood Cell Disorders: Diagnostic Yield and Clinical Utility

Impact of Sample Age on RNA Sequencing Metrics from FFPE Tissues Using Ion Torrent GenexusTM Integrated Sequencer

Resolution of newborn screening results via targeted long-read sequencing

Nanopore sequencing for robust detection of DNA methylation signatures

AI-supported Identification of Disease-Gene Relationship Publications

MYH11 triplosensitivity in TAAD and 16p13.11 microduplication syndrome: a supportive case series

Accurate genotyping of high homology HBA and SMN genes from whole exome sequencing

UNDERSTANDING PRENATAL CHROMOSOMAL ABNORMALITIES; IMPORTANCE OF BOTH CHROMOSOMAL AND MICROARRAY ABERRATIONS

Clinical Exome Sequencing Efficacy and Phenotypic Expansions involving Congenital Anomalies of Kidney and Urinary Tract (CAKUT)

Lab-on-Chip Multiplexed qPCR Analysis Utilizing Melting Curve Analysis Detects Up to 144 Alleles with Sub-hour Turn-around Time

Impact of Variant Reclassification: Insights from Greenwood Genetic Center

A Virtual Registry of 9K Leigh Syndrome and Primary Mitochondrial Disease Cases Constructed through Semi-Automated Literature Mining and Expert Curation

Enhancing the Validity of Whole-Genome Association Studies: A Privacy-Preserving HWE Quality Control Method for Large-Scale Biobank Data

Systematic reanalysis of clinical genome sequencing data in a cohort of acute care patients.

Investigating the diagnostic yield of long read sequencing in a selected cohort of families with undiagnosed disease

Comparison of prenatal cell-free DNA screen positive for monosomy X with diagnostic maternal and fetal cytogenetic studies: a single-center study

Genetic Findings in Over 500 Individuals Tested with a Spastic Paraplegia Gene Panel

Survey results reveal barriers and solutions to the use of functional data in variant interpretation

Enhancing Laboratory Efficiency: Implementation of Revvity Transcribe AI for Automated Data Entry in Newborn Screening

Testing Indications and Diagnostic Yield of Clinical Exome Sequencing in a US Midwestern Patient Cohort

Post-translational processing of GAA protein associated with GAA variants may explain the clinical variability observed amongst Pompe disease patients

Regions of Homozygosity on a Single Chromosome: Insights into Complex Diagnosis Caused by Imprinting Disorders, Recessive Disease, and Chromosomal Aberrations

Mucopolysaccharidosis Type VII (MPS VII): A locus-specific database of GUSB gene variants, genotypes and phenotypes

The power of multi-omics in confirming the pathogenicity of a DDX11 variant causing Warsaw syndrome

Follow-up of Suspected Constitutional Chromosome Abnormalities Identified in Cancer Cytogenetic Testing

Functional analysis of two JAG1 missense variants in Alagille syndrome

Expanding the diagnostic toolkit using long-read RNA-sequencing

Clinical Exome Sequencing Towards Molecular Diagnosis: Insights and Outcomes from 822 Pediatric Cases

Provenance/Identity Testing in Genome Sequencing: A Single Institution's Experience

Extracting HMW DNA from saliva for HiFi sequencing applications

Identification of rare genetic variants in keratoconus families via exome sequencing

Genetic basis of dysferlinopathy, a comprehensive analysis of sequence and copy number variants from a large cohort of 686 patients

Clinical significance of mRNA nonstop decay in rare disease diagnosis

Identification of pathogenic expansions within FXN in individuals with suspected Friedreich Ataxia diagnoses

Improved algorithms for optical genome mapping workflows in constitutional disease and oncology applications

Implementing a prenatal-specific reference markedly improves call quality and reduces repeat testing for clinical CMA

Machine Learning-Guided GWAS in the Taiwan Biobank Reveals Novel Height-Associated Genes with Possible Epistatic Interactions

An Assessment of a Novel Capillary Blood Collection System for Research Sample Collection in Adults

Impact of Leveraging Deep Neural Networks for Automated Metaphase Finding

Use of Polygenic Risk Scores to Assess the Contribution of Common Genetic Variation in Primary Immunodeficiency Disorders

Impact of Gene-Disease Relationship Curation on Patient Diagnostics and Panel Design

Recurrent 2q11.2 deletions and duplications: A look at segregation, clinical presentation, and additional genetic testing

Clinician Survey on VUS Reporting in Panel Genetic Testing

What are you missing? A review of the utility of characterization studies as part of chromosomal microarray analysis

Cytomictical chimerism in a phenotypically normal 46,XY woman

Congenital Heart Disease-associated Coding and Non-Coding Mutations alter TBX5-DNA Binding Affinity

LLM-Aided Script Development for APOE Gene Haplotype Analysis in Large-Scale Genomics

The collection and use of patient sex, gender, race, ethnicity, and ancestry data among US-based clinical genomics laboratories

The role of PACS2 and pacs2 in ocular development

BS1/BA1 thresholds derived from disease-specific genetic architectures result in decreased rates of VUS in clinically relevant genes

Diagnostic Yield of Autism Spectrum Disorder Patients from Hong Kong Using Genome Sequencing with Extensive Comorbidity Characterizations

Sequencing of a KLK15 gene variant in a large cohort of hypermobile Ehlers- Danlos syndrome patients

Variant Interpretation of High-Penetrance Breast Cancer Genes in Underrepresented Populations: A Review of ACMG Guideline Adherence and Hypothetical Data

The Impact of Gene-Specific Guidelines on Variant Reassessment: Perspectives from a Hereditary Cancer Clinic

Uncovering Disease-Associated SVA Insertions Missed by Routine Clinical Testing

Validation and Implementation of Emedgene Variant Interpretation and Reporting Software for Clinical Genomic Testing

Whole genome sequencing of 55 exome negative trios identifies putative rare pathogenic noncoding variants in infants with congenital anomalies

'Double-hit' RUNX1 Involving a Novel t(6;21)(q25;q22) Chromosome Translocation with RUNX1::ARID1B Gene Rearrangement and RUNX1 p.Trp279* truncation in Acute Myeloid Leukemia.

Empowering Geneticists to Do Genomic Reanalysis Routinely

The utility of runs of homozygosity in the identification of pathogenic variants in individuals with rare diseases

Uncovering myocardial infarction genetic signatures using GWAS exploration in Saudi and European cohorts

Genetic Characterization of PYCR1-Associated De Barsy Syndrome in a Pakistani Family Through Whole Exome Trio Sequencing

Newborn with Kagami-Ogata syndrome and upd(14)pat characterized by trio SNP array, Mendelian Inheritance Error and genotyping analyses

A Tale of Two Sides: a Rare Pediatric Neuro-Oncology Case

A Novel Truncating Variant in PRDM16 Causes Severe Familial Cardiomyopathy with Variable Clinical Presentations

Chromosome Breakage Analysis (CBA) is a Powerful Functional Assay for Classification of Novel Variants in Fanconi Anemia Genes.

KMT2A Amplification in Two Adult Patients with B-Cell Acute Lymphoblastic Leukemia

Classification of c.293-7C>G in the CYP21A2 gene: Contributor to Congenital Adrenal Hyperplasia or Simply a Passenger Variant?

Genome sequencing detects Transposable Element (TE) insertions in two diagnostic challenging cases

SRY Positive 46,XX: A Unique Family with Fertile Female Mother and Male Children Challenging the Dogma of Sex Determination

Uniparental Isodisomy of Chromosome 8 in a One-Year-Old Boy: A Rare Case Report

Discrepant Genetic Laboratory Results in the Prenatal Setting: A Case Study

A Complex Structural Rearrangement Resulting in Recurrent SCN1A Deletion Identified by Optical Genome Mapping

Identification of a Novel Variant in the MAD1L1 Gene in an Individual with Mosaic Variegated Aneuploidy Syndrome

Novel De Novo KAT6A Variant in a Pediatric Patient with Multisystem Involvement

Premature termination codon variants in CHD1 and SF3B2 in a complex pedigree with phenotypic variability

Copy number gains in RBFOX1: rare population variants or incompletely penetrant CNVs? Case reports and review of the literature.

Unbalanced three-way translocation identified in a patient with developmental delay using chromosomal microarray analysis and karyotyping

Unveiling a Dual Diagnosis: The Role of Exome Reanalysis in Evolving Pediatric Phenotypes

Identification of a balanced rearrangement of 22q11.2 in a family with a history 22q11.2 microduplication and microdeletion syndromes

Conflicting Genotype-Phenotype Data on ITSN1 as a Candidate Gene for Neurodevelopmental Disorders

Segregation of a nonsense variant in TP63 in a five-generation family with non-syndromic cleft lip and palate.

Challenges in Microarray Analysis and Interpretation of Incidental Findings on the X Chromosome

Detection of mosaic Prader-Willi syndrome in a buccal sample by CMA and WES

Vanishing copy number gains: causative chromosomal changes or unstable findings of unknown consequence?

Using the single-cell transcriptome to facilitate molecular diagnosis of retinal dystrophy -- a case report

Methylation Analysis and Karyotyping as Follow-up Tests for Females with FMR1 Premutation and Full Mutation

Low-level somatic convoluted indel variants in C-terminal region of TEK revealed by deep sequencing on patients with vascular malformations

Utilizing MyCode and population-based genomics screening to detect genetic variants for cardiovascular disease in women of reproductive age

Has the era of precise intrauterine treatment for congenital adrenal hyperplasia arrived?

Verification of a Software and Amplification-Based Nanopore Sequencing Solution to Characterize Complex Variants in 11 Challenging, High-Frequency Carrier Genes

Advancing precision care in pregnancy through a treatable fetal findings list

Application value of noninvasive prenatal diagnosis of recessive monogenic genetic diseases based on relative haplotype dosage changes

Investigating the use of SpliceAI in Variant Reanalysis of a Cohort of Fetuses with Congenital Brain Abnormalities

Expanded Carrier Screening Detects Early Actionable Metabolic Conditions

Prenatal chromosomal microarray classification and reporting among screen positive cases in California

EXAMINATION OF PRENATAL CASES REFERRED FOR UNIPARENTAL DISOMY 16: REFERRAL PATTERNS, POSITIVE ASSOCIATONS AND KEY FINDINGS

Rate of prenatal diagnostic testing among women with genetic conditions

Noninvasive prenatal diagnosis of facioscapulohumeral muscular dystrophy using SNP-based amplicon sequencing

'Let me figure out how to help you:' Perspectives on preparing to parent a child with a genetic condition

Single-cell sequencing of circulating trophoblasts for non-invasive fetal pathogenic copy number variant screening: first large-scale clinical validation study results

Atypical Sex Chromosome Findings on Prenatal Cell-free DNA Screenings

Evaluation of prenatal cfDNA screening for trisomies 13, 18, and 21 in California, 2022-2024

Factors Associated with Prenatal versus Postnatal Genetic Diagnostic Testing

Genetic Etiologies of Bilateral Renal Agenesis

Use of Aspirin Prophylaxis in Pregnant Patients with Genetic Conditions

The use of postpartum long-acting reversible contraceptives among women with genetic conditions

Circulating Cell-Free DNA in the Diagnosis of Hydatidiform Mole and Digynic Nonmolar Triploidy

Genetics of Fetal Micrognathia: One Fetal Center's Experience

Use of cell-free DNA for prenatal diagnosis of single gene disorders: experience of a single tertiary care center

Paternal expanded carrier screening after positive maternal results: perceptions and barriers to screening

Development of a Predefined Gene List for Childhood Onset Secondary Findings via Fetal Exome Sequencing

Expanded chromosomal microarray comprising screening for spinal muscular atrophy and monogenic diseases in prenatal diagnosis

Expanding the Prenatal Phenotype of MYRF-Related Cardiac-Urogenital Syndrome

Noninvasive Detection of Twin Zygosity Using Genome-wide Linkage Disequilibrium Information

Who Are We Missing: Examining Health Insurance Coverage for Expanded Carrier Screening

Parental Emotional Experiences and Coping Strategies During Prenatal Sex Chromosome Aneuploidy Diagnosis

Persistent clenched hands with or without adducted thumbs, a fetal ultrasound finding in neuronopathic Gaucher disease

A Laboratory Assessment: Diagnostic Yield of Next Generation Sequencing and Prenatal Clinical Indications

Practical implementation of ACOG and ACMG carrier screening guidelines at a single academic medical center

Defining and measuring the value of genetic testing: Developing the Patient-reported Genetic testing Utility InDEx (P-GUIDE) for prenatal care

Predictive Outcomes of Fetal Micrognathia: One Fetal Center's Experience

Impact of Prenatal Trio-Exome Sequencing on Future Reproductive Decisions: A Qualitative Study

Integrating Next-Generation Sequencing with Deep Phenotyping: Enhancing Prenatal Diagnostic Precision and Unveiling the Comprehensive Phenotypic Spectrum of Skeletal Disorders

The significant contribution of maternal effect genes for recurrent pregnancy loss: Preliminary results from the pedigree analysis

Development of a prenatal genetics program at the southeast of Mexico

Prenatally diagnosed 45,X/46,XY mosaicism with a male phenotype

Lethal hypophosphatasia associated with recurrent pregnancy loss: From carrier screening to preimplantation genetic testing. A case report.

A maternal and fetal diagnosis of or susceptibility to autosomal dominant COL1A2-related disorders ascertained by prenatal cell-free DNA screening

Expanding the fetal phenotype of USP7-related conditions

Seeking Answers, Getting Questions: Genome-wide Prenatal Cell-free DNA Screening in a Case of Multiple Congenital Anomalies

Meiotic Recombination on Display Through Preimplantation Genetic Testing for Two X-Linked Disorders

Consideration of intravenous immunoglobulin to prenatally mitigate the development of chondrodysplasia punctata in children born to mothers with autoimmune disease

Prenatal Diagnosis of Snijders-Blok Campeau Syndrome in a Fetus with Dandy Walker Malformation

Prenatal whole genome sequencing to diagnosis rare presentations of hydrops fetalis

Prenatal diagnosis of Pretzel Syndrome: A case report

Case report: Incidental Diagnosis of Mulchandani-Bhoj-Conlin Syndrome by Prenatal Microarray

A fetal diagnosis of LRP2-related Donnai-Barrow syndrome through prenatal genome sequencing

Counseling and management of a maternal diagnosis of mosaic trisomy 8 ascertained through prenatal cell-free DNA screening

Prenatal Ultrasound Diagnosis of Complex Cardiac Defects and Heterotaxy Syndrome Associated with DNAH9 Gene Pathogenic Variant

Multiple Deletions In Chromosome 13 Mediated By Chromothripsis: A Case Report

A Fetus with Diamond-Blackfan Anemia and HLHS: Expanding the Cardiac Phenotype

Prenatally Diagnosed Beare-Stevenson Cutis Gyrata Syndrome with a Novel Variant

A Rare Case of Prenatal G6PD Presenting with Hydrops and in Utero Demise

Discordant Cell-Free DNA Screening and Ultrasound Results Aid Prenatal Diagnosis of Androgen Insensitivity Syndrome

Additional haplotype in NIPD for Spinal muscular atrophy: triploid of a twin gestation

Challenges of genetic counseling in prenatal setting: follow up of a child born after conspicuous result for Pallister Killian Syndrome

Maternal Mosaicism for TRPV4 p.R269H and Siblings with Variable Phenotypes, Including Prenatal Ultrasound Findings Associated with Lethality

Importance of expanded prenatal carrier screening in infertile patients

A Cautionary Tale of Fetoplacental Discrepancies: The Impact of Mosaicism in Prenatal Diagnosis

Prenatal Findings of Mevalonate Kinase Deficiency in an MVK I268T Homozygous Fetus

Expanding the Prenatal and Postnatal Phenotype of 1q21.1 Duplication: A Case Report

Preimplantation genetic diagnosis as a strategy to prevent having a child born with Norrie disease

Variability of Phenotypic and Prenatal Ultrasound Findings of Muenke Syndrome: a Case Report

Novel fetal phenotype for 'FRYL-related neurodevelopmental disorder with multiple anomalies

Diagnosis of Sheldon-Hall Syndrome on Products of Conception through Genome Sequencing

Rare Clinical Gene Variants of TUBA1A: Tubulinopathy-Related Brain Malformation Spectrum Disorder

Prenatal diagnosis of a rare immunodeficiency prompted by increased nuchal translucency

Distinct Prenatal Diagnostic Pathways to Uniparental Disomy: Insights from Two Cases

Consideration For Epigenetic Associations in Pentalogy of Cantrell

Genome sequencing to diagnose possible arthrogryposis syndrome presenting with maternal pyelonephritis and polyhydramnios

Pierson Syndrome: a fetal homozygous pathogenic variant within the LAMB2 gene

Findings Before and After Duplication and Deletion

Discriminating Guanidinoacetate Methyltransferase Enzyme Deficiency false positives TPN babies by using the Arginine/GUAC ratio (PDF) - 1

Improvements in blood phenylalanine and health-related quality of life outcomes among adults with PKU receiving pegvaliase in the OPAL study (PDF) - 1

Glucosylsphingosine and its utility for newborn screening for Gaucher disease (PDF) - 1

Variant curation guideline specifications for ABCD1 from the ClinGen Peroxisomal Variant Curation Expert Panel (PDF) - 1

Genetic Insights from a Large-Scale Exome Sequencing Study of Type 1 Diabetesin Ukraine (PDF) - 1

A Case Series and Functional Study of Two Commonly Reported Pathogenic Variants in OTC Supports a Hypomorphic Classification (PDF) - 1

Index of sustained Phe response and improvements in PKU clinical outcome assessments in patients receiving pegvaliase (PDF) - 1

Assessment of Gestational Age and Birthweight in Patients with Metabolic Conditions Included in CLIR (PDF) - 1

Marked phenotypic heterogeneity associated with a heterozygous pathogenic variant in the acetyl-CoA acyltransferase 2 gene. (PDF) - 1

Untargeted proteomics greatly aides the functional diagnosis of mitochondrial aminoacyl-tRNA synthetases (ARS2s) (PDF) - 1

Advances in Multi-omics Diagnostics Studies of Mitochondrial Diseases in Japan (PDF) - 1

Retrospective Claims Analysis: Major Clinical Manifestations and Healthcare Resource Use Among Patients With Long-Chain Fatty Acid Oxidation Disorders Pre/Post-Triheptanoin Initiation (PDF) - 1

Clinical Characterization of Classical Homocystinuria due to Cystathionine-beta Synthase Deficiency: Results from the ACAPPELLA Study (PDF) - 1

Acute Arrhythmias in a Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) Mouse Model (PDF) - 1

Use of Cholic Acid in Smith-Lemli-Opitz Syndrome (SLOS): Real-World Patient Outcomes (PDF) - 1

Safety and Tolerability of Chenodeoxycholic Acid in Pediatric Patients With Cerebrotendinous Xanthomatosis (RESTORE): An Open-label Phase 3 Study (PDF) - 1

Comparison of treatment efficacy of very long chain acyl-CoA (VLCAD) deficiency with an AAV9.hVLCAD vector, synthetic VLCAD mRNA, and triheptanoin. (PDF) - 1

Introducing an interactive, searchable database of LC-FAOD gene variants, genotypes and phenotypes. (PDF) - 1

Clinical Utility in Hospital-Wide Use of GDF15 as a Biomarker for Mitochondrial DNA Encoded Primary Mitochondrial Disorders (PDF) - 1

Newborn screening predicts phenotype conversion and developmental outcome in hyperphenylalaninemia (PDF) - 1

Interim Analysis of the Efficacy and Safety of Weekly Intravenous Tividenofusp Alfa in Mucopolysaccharidosis Type II: A Phase 1/2 Study (PDF) - 1

Interim Analysis of the Efficacy and Safety of Weekly Intravenous Tividenofusp Alfa in Mucopolysaccharidosis Type II: A Phase 1/2 Study (Audio) - 1

Genetic landscape of ALPL and other genes impacting alkaline phosphatase variation in the UK Biobank (PDF) - 1

Population-Specific Structural Variation Linked to Metabolic Diseases in People of Pacific Ancestry (PDF) - 1

Initial psychometric evaluation of the Adult Symptom Severity and Impacts Scale (PKU-SSIS) using interim data from the OPAL study (PDF) - 1

Update from PHEFREE: The National Institutes of Health Rare Disease Consortium for Hyperphenylalaninemia (Audio) - 1

Update from PHEFREE: The National Institutes of Health Rare Disease Consortium for Hyperphenylalaninemia (PDF) - 1

Improving ataxia symptoms in patients with monoallelic DHDDS-CDG using nicotinamide precursor supplements (PDF) - 1

Mitochondrial Copy Number in Undiagnosed and Rare Monogenic Diseases. (PDF) - 1

- Identifying Metabolic Markers for the Early Differentiation of LCHAD and TFP Deficiencies: Insights from Acylcarnitine Profiling (PDF) - 1

Unveiling Psychopathology in Congenital Disorders of Glycosylation: A Comprehensive Study Using Patient Records, Questionnaires, and Literature Review. (PDF) - 1

In Vitro Evaluation of Drug-Drug Interaction Potential of Doxecitine and Doxribtimine in Thymidine Kinase 2 Deficiency (TK2d) (PDF) - 1

Impact of Homocystinuria on the Brain and Nervous System (PDF) - 1

Neuropsychiatric Symptom Burden of Cerebrotendinous Xanthomatosis, the Importance of Diagnosing Early, and the Impact of CDCA Treatment: A US-based Survey (PDF) - 1

Development and Validation of a Quantitative Ultra-Performance Liquid Chromatography Quadrupole Time-of-Flight (UPLC-QTof) Method for Urine Organic Acid Analysis (PDF) - 1

Title: Outcomes of Liver Transplantation in Glycogen Storage Disease Type Ib (PDF) - 1

California's Experience with Guanidinoacetate Methyltransferase Enzyme Newborn Screening on the First 100,000 Samples (PDF) - 1

Exploring the Use of Emergency Investigational New Drug Therapy in 3 Pediatric Patients with Inborn Errors of Metabolism (PDF) - 1

The Assessment of the Treatment and Management Landscape of Phenylketonuria survey study: Findings from 19 clinics in the United States (PDF) - 1

Occurrence of anaphylaxis in adult incident pegvaliase-treated PKU patients in a post-marketing safety analysis in the United States (PDF) - 1

Interim Results From the APHENITY Extension Study: Sepiapterin Reduces Blood Phe With Improved Dietary Phe Tolerance in Participants With Phenylketonuria (Audio) - 1

Interim Results From the APHENITY Extension Study: Sepiapterin Reduces Blood Phe With Improved Dietary Phe Tolerance in Participants With Phenylketonuria (PDF) - 1

Three Year Safety Experience in Children Treated with Govorestat for Classic Galactosemia (PDF) - 1

The Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Disease Monitoring Program: An Evaluation of Initial Findings (PDF) - 1

Integrating metabolic, genetic, and demographic data for enhanced newborn screening. (PDF) - 1

Impact of prenatal fentanyl exposure on sterol analysis for Smith-Lemli-Opitz syndrome in newborns (PDF) - 1

Durable Fracture Rate Reduction in Patients with OI with Setrusumab Treatment: 14-Month Data from Phase 2 of the Orbit Study (PDF) - 1

Genotype Phenotype Correlations Inform Therapeutic Approach in Serine Palmitoyltransferase (SPT)-related Disorders (PDF) - 1

Targeting KV10.1 Channels in Breast Cancer: The Role of Ion Channel Genetics in In Silico Electrophysiological Mechanisms and Drug Discovery (PDF) - 1

Targeting KV10.1 Channels in Breast Cancer: The Role of Ion Channel Genetics in In Silico Electrophysiological Mechanisms and Drug Discovery (Audio) - 1

Subgroup Analysis by Phenoytpe in a Phase III, Randomized, Placebo-Controlled Crossover Trial with Levacetylleucine (IB1001) for Niemann-Pick Disease Type-C (PDF) - 1

Improving care for patients with Hyperammonemia: Use of Quality and Safety Frameworks and Creation of a Clinical Care Pathway (PDF) - 1

Reducing the False Positive for Guanidinoacetate Methyltransferase Enzyme Deficiency in Newborn by the Addition of a Second Tier UPLC-MS/MS Test (PDF) - 1

The unexpected and novel mitochondrial phenotype of the ex vivo patient-derived cellular model for SYNGAP1 encephalopathy. (PDF) - 1

Metabolic Approach for the Development and Validation of Candidate Treatments for Phelan-McDermid Syndrome (PDF) - 1

Presentation and Diagnosis of Adolescent-Onset HMBS-Related Leukoencephalopathy (PDF) - 1

Anion Gap Metabolic Acidosis of Unknown Etiology (PDF) - 1

TRIT1-associated combined oxidative phosphorylation deficiency-35: Two cases from opposite ends of the epilepsy spectrum (PDF) - 1

Canonical splice variant c.298+2T>C in OTC associated with attenuated ornithine transcarbamylase deficiency (PDF) - 1

Treatment of BOLA3-Associated Multiple Mitochondrial Dysfunctions Syndrome 2 with a Mitochondrial Cocktail (PDF) - 1

Treatment of BOLA3-Associated Multiple Mitochondrial Dysfunctions Syndrome 2 with a Mitochondrial Cocktail (Audio) - 1

Silent Risks: Sudden Cardiac Death in a Pediatric Patient with MELAS (PDF) - 1

TMEM70 Deficiency: Neurodevelopment, Natural History, and Emerging Symptoms from Neonate to Childhood (PDF) - 1

Progressive Neurological Symptoms in a 36-Year-Old Female: Clinical Challenge (PDF) - 1

Follow-up of very attenuated form of mucopolysaccharidosis type Ⅱ detected by newborn screening. (PDF) - 1

Two de novo intronic mutations of GLS gene leading to Glutaminase Deficiency/ Autosomal Recessive Developmental and Epileptic Encephalopathy 71 (AR-DEE71) (PDF) - 1

Use of Tadalafil in MEGDEL Syndrome (PDF) - 1

Phenotypic expansion of Menkes disease in a small cohort: one institution's experience (PDF) - 1

Mitochondrial Complex II deficiency: heterozygous loss of function variant in the SDHA gene causing a severe neonatal phenotype. (PDF) - 1

A Case of Neuromyelitis Optica Spectrum Disorder in ARCN1-related Congenital Disorder of Glycosylation: A Rare Autoimmune Phenotype (PDF) - 1

Molybdenum Cofactor Deficiency: Results of Rapid S-Sulfocysteine Analysis and Genome Sequencing Still Not Rapid Enough (PDF) - 1

Carnitine palmitoyltransferase-2 deficiency in a 4-year-old boy presenting with autism spectrum disorder: continuing to uncover links between autism and carnitine (PDF) - 1

Acute Mitochondrial Dysfunction in Proprionic Acidemia (PDF) - 1

A Novel Variant and Treatment Modality in TANGO2 Deficiency (PDF) - 1

Expanding Clinical Spectrums in Carbamoyl Phosphate Synthetase I deficiency: A Case Series of four patients - a tertiary institution's experience. (PDF) - 1

Outcomes of a pediatric patient with late-onset Pompe disease switching from high‑dose alglucosidase alfa to standard-dose cipaglucosidase alfa plus miglustat (PDF) - 1

High Efficacy on Low-dose Empagliflozin Efficacy in Glycogen Storage Disease-1b Sibling Pair (PDF) - 1

GSD1 Subtype 1B: Timeline and progression of clinical symptoms in a patient with juvenile idiopathic arthritis. (PDF) - 1

Sensorineural Hearing Loss in a Child with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) Treated with Cochlear Implantation (PDF) - 1

Response to Ketone Therapy in an Unusual Case of Type 1 Multiple Acyl-CoA Dehydrogenase Deficiency (PDF) - 1

Use of ketogenic diet in MOGS-CDG: a case study (PDF) - 1

GAUCHER DISEASE AND A SLC26A6 VARIANT: UNEXPECTED BONE FRAGILITY (PDF) - 1

SC4MOL Deficiency: 11th Reported Patient with Updates in Treatment Outcomes and Review of Reported Cases (PDF) - 1

Managing BCKDK Deficiency on the Frontier:Treating BCKDK Deficiency in an Underserved Hutterite Community (PDF) - 1

Hyperammonemia in a child with short bowel syndrome: urea cycle disorder or complication of altered gastrointestinal function? (PDF) - 1

Adult presentation of MOGS-CDG: Expanding the Clinical Spectrum (PDF) - 1

Dimethylglycine Dehydrogenase Deficiency in Siblings with Skeletal and Neurodevelopmental Manifestations (PDF) - 1

March MADDness - A diagnostic dilemma with genotype/phenotype discordance (PDF) - 1

Challenges in Newborn Screening for Mucopolysaccharidosis Type I:  A Case Study (PDF) - 1

Characterization of RPS20-related colorectal cancer predisposition: a case series from a multigene panel testing cohort (PDF) - 1

Landscape of Thai Hereditary Colorectal Cancer: Insights from 941 Cases (PDF) - 1

Predictive Accuracy of Liquid Biopsy for Comprehensive Genomic Profiling of Solid Tumors (PDF) - 1

Very Low Penetrance of Loss-of-function Variants in PMS2 for All Lynch Syndrome Relevant Cancers In Large US Biobanks (PDF) - 1

Congenital urinary tract anomalies are a variable finding associated with nevoid basal cell carcinoma syndrome (PDF) - 1

Frequency and pathogenicity of hereditary tumor-associated pathogenic variants in the Japanese general population using ToMMo 54KJPN data (Audio) - 1

Frequency and pathogenicity of hereditary tumor-associated pathogenic variants in the Japanese general population using ToMMo 54KJPN data (PDF) - 1

Spatial Transcriptomics Analysis and Differential Pseudotime Analysis of High-Grade Astrocytoma with Piloid Features (PDF) - 1

Spatial Transcriptomics Analysis and Differential Pseudotime Analysis of High-Grade Astrocytoma with Piloid Features (Audio) - 1

Assessing Breast Cancer Risk: A Comparative Analysis of Ancestry-Adjusted PRS Models in Women of Ashkenazi Jewish Heritage (PDF) - 1

Co-existing t(9;14)(q33;q32)/IGH Rearrangement is a Risk Factor for Lymphoid Blast Phase Transformation of Chronic Myeloid Leukemia (PDF) - 1

Identifying Disparities in Referral for Hereditary Cancer Genetic Testing in a Population Eligible for Targeted Therapy (PDF) - 1

Anticarcinogenic Plants for Oncology: Nutraceuticals Replacing Traditional Chemotherapy? An in-vitro & in-vivo Investigation with Zebrafish models of Human Breast Cancer (PDF) - 1

Prevalence of Germline Double Heterozygosity for Pathogenic Variants in Thai Cancer: A Study of 8,068 Patients (PDF) - 1

A Comparison of Gynecologic Cancer Risk Management in Lynch Syndrome Patients Between a Safety-Net Hospital and University Medical Center (PDF) - 1

Phenotype Prediction Using Cell-Free DNA Fragmentation as a Predictor of Clinical Severity in Neurofibromatosis Type 1 (NF1) (PDF) - 1

Factors associated with precancerous colon polyps (adenomas) in Lynch syndrome patients (PDF) - 1

Over-Representation of PMS2CL Pseudogene Interference in PMS2 Testing in a Non-European Cohort (PDF) - 1

Genome Sequencing Analysis of Extracellular Vesicle DNA from Pancreatic Cancer Patient-derived Cells Reveals Coding, Non-coding Signatures and Mutational Hotspots (PDF) - 1

Influence of Preoperative Lynch Syndrome Diagnosis on Surgery in Patients with Colorectal Cancer (PDF) - 1

Performance of Amplicon-based Next Generation Sequencing in Detection and Quantification of FLT3-ITDs as Compared to Conventional PCR-based Testing (PDF) - 1

Genomic Tumor Profiling and Identification of Germline Cancer Predisposition Variants in a Pediatric Cohort (PDF) - 1

Genetic basis of inflammatory response in prostate cancer health disparity (PDF) - 1

Loss of DDI2 Triggers Autophagy through CCN1 in Cancer Cells (PDF) - 1

Rapid detection of PML::RARA fusions in acute promyelocytic leukemia using CRISPR/Cas9-mediated nanopore sequencing with adaptive sampling (PDF) - 1

Liquid biopsy for early cancer detection in children and adults with hereditary cancer syndromes across Canada (PDF) - 1

Bioinformatics Pipeline for Somatic Variant and Mutation Signature Analysis from Tissue Biopsies Using RNA-Seq (PDF) - 1

The Impact of Discrepant Payor Policies from One Lab Benefits Manager on Patient Access to Genetic Testing (PDF) - 1

Bioinformatics Analysis Reveals Genes Involved in PI3K-Akt Pathway as Novel Potential Biomarkers and Drug Targets for Acute Myeloid Leukemia (AML) (PDF) - 1

Implications of multiple germline variants identified by panel-based cancer genetic testing (PDF) - 1

Implications of multiple germline variants identified by panel-based cancer genetic testing (Audio) - 1

The Effect of Patient Uncertainty in Family History on Genetic Testing Recommendations for Hereditary Cancer Syndromes (PDF) - 1

Optimizing FISH Results in Multiple Myeloma: Plasma Cell Selection via Flow Cytometry (PDF) - 1

Deciphering the structural complexities of pediatric low grade gliomas (PDF) - 1

Genetic Testing for Hereditary Cancer in Mexico: Insights from a Private Hospital Cohort from 2007 to 2023. (PDF) - 1

Engaging the Nurse Navigator to Increase Genetic Testing Rate for Metastatic Prostate Cancer Patients (PDF) - 1

Data Model and Portal Development Supporting Centralization of Genetic Information in a Provincial Research Network (PDF) - 1

An atypical and complex BCR-ABL translocation in a chronic myeloid leukemia patient and its response to TKI therapy (PDF) - 1

Multi-Gene Panel Testing Within the Context of Limited Family Structure in Single Cases of Breast Cancer (PDF) - 1

Should All Survivors Undergo Genetic Screening? - A Review of a Breast Cancer Survivorship Program in the Bronx, NY (PDF) - 1

Expression and Prognostic Implications of Lynch Syndrome-Related Genes in Bladder Cancer (Audio) - 1

Expression and Prognostic Implications of Lynch Syndrome-Related Genes in Bladder Cancer (PDF) - 1

Original protocol for presumed germline pathogenic variants in cancer genome profiling tests (PDF) - 1

Biomarker testing patterns among patients newly diagnosed with non-small cell lung, prostate, and bladder cancer (PDF) - 1

A Novel EP300::PATZ1 Fusion Identified in A Patient With High-Grade Neuroepithelial Tumor (PDF) - 1

RUNX1::SLTM - a new fusion gene developed from t(15;21)(q22;q22) during accelerated phase in CML (PDF) - 1

Testing of t(4;14) in Multiple Myeloma: How to Do It (PDF) - 1

A novel RUNX1::EWSR1 gene fusion in a young male acute myeloid leukemia (AML) patient: A case report (PDF) - 1

Quantitative Muscle Ultrasound as a Window into Disease Progression in Infantile-Onset Pompe Disease (PDF) - 1

Diagnostic value of repeat expansion disorders detected in genome sequencing data (PDF) - 1

Parsing autism heterogeneity: phenotypic differences between individuals across genes of different effect sizes (PDF) - 1

Initial findings of the ClinGen Monogenic Systemic and Incomplete Lupus Gene Curation Expert Panel (PDF) - 1

Initial findings of the ClinGen Monogenic Systemic and Incomplete Lupus Gene Curation Expert Panel (Audio) - 1

Initial findings of the ClinGen Monogenic Systemic and Incomplete Lupus Gene Curation Expert Panel (PDF) - 2

Qualitative Interviews to Support the Development of a Patient-Reported Outcome (PRO) Measure for Glycogen Storage Disease Type Ia (PDF) - 1

Updating Gene-Disease Classifications and Inheritance Patterns for Porphyric Disease Entities to Improve Diagnostic Accuracy and Patient Management (PDF) - 1

Impact and evolution of a philanthropic global network providing clinical genomic testing (PDF) - 1

Registry and Gene Replacement Therapy for Spinal Muscular Atrophy at Referral Center of Pediatrics in Vietnam (PDF) - 1

Clinical and Molecular Investigation of 89 Brazilian patients with Cornelia de Lange syndrome (PDF) - 1

Correlation of mitochondrial DNA content in muscle with genetic diagnosis (PDF) - 1

Expanded Molecular Newborn Screening: Comparing Results of a 256 vs.1,518 Gene Panel (PDF) - 1

Safety, efficacy, and exposure-response of NNZ-2591, a synthetic analog of an IGF-1 metabolite, for Phelan-McDermid syndrome in children and adolescents (Audio) - 1

Safety, efficacy, and exposure-response of NNZ-2591, a synthetic analog of an IGF-1 metabolite, for Phelan-McDermid syndrome in children and adolescents (PDF) - 1

Variants in RPAP3 are associated with Normal-Pressure Glaucoma (PDF) - 1

Diagnostic Yield of Exome Sequencing in Adults with Rare Disease: An Eight-Year Retrospective Study (PDF) - 1

Durable efficacy and safety of DTX301: Long-term follow up of a phase 1/2 trial in adults with ornithine transcarbamylase deficiency (PDF) - 1

A Framework To Identify Individuals at Low Risk of Disease In the Population (PDF) - 1

Neuropsychological Trends in Beck Fahrner Syndrome: Disrupted DNA Demethylation Machinery and Effects on Executive Function (PDF) - 1

Pathological Characteristics and Alterations in Proteomic Profiles of preclinical models Harboring Patient-Derived Point Mutation in the WDR45 Gene (PDF) - 1

Evaluation of the Genotypic and Phenotypic Spectrum of Pediatric ABCC6 Deficiency (PDF) - 1

Abdominal Compression Syndromes in the Ehlers-Danlos Syndrome (PDF) - 1

A Multicenter Descriptive Study of 176 Neonatal-Onset Urea Cycle Disorder Patients Hospitalized in Level IV Neonatal Intensive Care Units (PDF) - 1

High Prevalence of Sitosterolemia in the Middle East: Insights from Genetic Prevalence Estimates (PDF) - 1

Prenatal-onset hypertrophic cardiomyopathy in 54 patients with RASopathies: understanding phenotype-genotype correlations for risk stratification, medical management and targeted therapies (PDF) - 1

Clinical Validation of Droplet Digital Polymerase Chain Reaction (ddPCR) for SMN1 and SMN2 Copy Number Determination in Newborn Screening (PDF) - 1

Project FIND-OUT: Outpatient Genome Sequencing in Expanded Pool of Symptomatic Infants at Risk for Genetic Neurodevelopmental Disorders Provides Earlier Diagnoses (PDF) - 1

Truncating Variants in APOB Are Not VUS When Screening for Familial Hypercholesterolemia (PDF) - 1

Clinical and personal utility of population screening for neurodevelopmental psychiatric copy number variants and sex chromosome aneuploidies in 580 adults (PDF) - 1

Endocrinopathies in TAOK1-Related Neurodevelopmental Disorders: An Expanded Case Series on the Evolution of Symptoms in Adolescents and Young Adults (PDF) - 1

Scalable system-wide CYP2C19 pharmacogenomic testing reveals excess incidence of adverse events in metabolizers receiving inappropriate prescriptions (PDF) - 1

Deep Phenotyping of CTCF-Related Disorder (PDF) - 1

Advancing Diagnostic Precision in Rare Genetic Disorders: Insights from the University of Wisconsin Undiagnosed Disease Program (PDF) - 1

Inpatient Genetics Service and Testing Trends: A Retrospective Multi-Institution Analysis (2021-2024) (PDF) - 1

Significance of Near-Canonical Conserved Splice Region Nucleotides (PDF) - 1

Precision molecular diagnosis and treatment of vascular anomalies via ultra-deep genomic sequencing of affected tissue and a multidisciplinary care model (PDF) - 1

Neurocognitive Profile of ODLURO Syndrome: Emergent Overlapping Trends Across KMT2 Disorders (PDF) - 1

The Clinical Utility of Next-Generation Sequencing (NGS)-Based Genetic Testing in Pediatric Polycystic Kidney Disease (PDF) - 1

Investigation of the cooperation between Kmt2d and Tbx1 reveals shared developmental pathways in 22q11.2DS (Audio) - 1

Investigation of the cooperation between Kmt2d and Tbx1 reveals shared developmental pathways in 22q11.2DS (PDF) - 1

Medical Biases and Misconceptions Impact Rett Syndrome Diagnoses in Males (PDF) - 1

Impact of Measuring Mitochondrial DNA Heteroplasmy Rates Using Different Tissues in 103 Patients with Mitochondrial Disease (PDF) - 1

Continued Clinical Improvements in Adults with Acid Sphingomyelinase Deficiency after 3-5 Years of Olipudase Alfa Treatment: Final ASCEND Trial Results (PDF) - 1

Comprehensive Phenotypic Spectrum of MED13L Syndrome: Insights from Literature and the National Brain Gene Registry (PDF) - 1

Safety profile and adherence of vosoritide in young children with achondroplasia in Japan (PDF) - 1

Disparities in Clinical Genetic Testing of Patients with Vascular Malformations: A Single Site Experience (PDF) - 1

Real-world Trofinetide Dosing for Rett Syndrome: The LOTUS Study (PDF) - 1

Molecular Diagnosis Actively and Immediately Changes Treatment Plan in Patients Clinically Diagnosed with Congenital or Idiopathic Spinal Deformities (PDF) - 1

Applying data science methodologies with artificial intelligence variant reinterpretation to map and estimate genetic disorder prevalence utilizing clinical data (PDF) - 1

Interdisciplinary Variant Re-Classification: FGFR3 as an example of genotypic investigation in suspected skeletal dysplasia population (PDF) - 1

Inequities in Eligibility for Cystic Fibrosis Modulator Therapy Based on Pathogenic/Likely Pathogenic CFTR Gene Variants Identified Through Carrier Screening (PDF) - 1

Assessment of factors driving disparities in clinical uncertainty for patients seen in adult medical genetics clinics (PDF) - 1

The clinical spectrum of the Fetal Fentanyl Syndrome in 23 cases (PDF) - 1

Solving for PS4 (PDF) - 1

Investigating Racial Differences and Genotype-Phenotype Variation in Marfan Syndrome: A Retrospective Analysis of Genetic and Clinical Features (Audio) - 1

Investigating Racial Differences and Genotype-Phenotype Variation in Marfan Syndrome: A Retrospective Analysis of Genetic and Clinical Features (PDF) - 1

Linkage Disequilibrium Between SLC12A3 and HYDIN Pathogenic Variants in The Old Order Amish Community (PDF) - 1

The ClinGen Variant Curation Interface (VCI) to support direct submission and tracking of submissions to ClinVar (PDF) - 1

Systematic Literature Review of GLA Variants Uncovers Additional Fabry Disease-Causing Variants (PDF) - 1

Effects of Early Androgen Therapy on Infant Temperment in Males with 47,XXY (PDF) - 1

Discovery of Rare Disease variants specific to populations using genomic data from diverse populations in All of Us (PDF) - 1

Clinical outcomes for patients enrolled in the MPS VII disease monitoring program (DMP) (PDF) - 1

Implementing Genetic Testing and Counseling in a Rare Lung Diseases Clinic at a Pediatric Tertiary Care Center (PDF) - 1

Genome sequencing after negative exome sequencing: Results in a rare disease cohort (PDF) - 1

Gastrointestinal manifestations of Osteogenesis Imperfecta: clinical description, standardized screening development, and guideline application for early intervention in the pediatric population (PDF) - 1

Automating Pharmacogenomic Annotation: Leveraging Schema Constrained GPT-4 for Variant-Drug Data Extraction (PDF) - 1

Automating Pharmacogenomic Annotation: Leveraging Schema Constrained GPT-4 for Variant-Drug Data Extraction (Audio) - 1

Characterizing the Phenotypic and Imaging heterogeneity of SCA27B: Insights from a Retrospective Analysis (PDF) - 1

Exome sequencing utilization and diagnostic rate in an adult genetics clinic (PDF) - 1

The eXtraordinarY Babies Study: Evolving Parental Perspectives and Priorities While Raising a Child Prenatally Diagnosed with Sex Chromosome Trisomy (PDF) - 1

Diagnostic yield of genome sequencing after non-diagnostic exome sequencing: a retrospective review of 118 cases at a single institution (PDF) - 1

A family-based approach to cascade genetic testing in a pediatric cancer clinic: challenges in test uptake and utility (PDF) - 1

Clinical outcomes of MYBPC3 variant carriers in a diverse cohort of patients with hypertrophic cardiomyopathy (PDF) - 1

Exploring precision medicine through genome sequencing for patients suspected of rare genetic disorders (PDF) - 1

Extending the interval between pegunigalsidase alfa infusions in patients with Fabry disease: five-year interim results from the ongoing BRIGHT51 study (PDF) - 1

A Novel Clinical Process to Expand Genetic Testing Access to Patients with Neurodevelopmental Disabilities (PDF) - 1

Diagnostic Yield of Ultra-rapid Whole Genome Sequencing in the NICU: A Retrospective Review of 324 Cases at a Single Institution (PDF) - 1

Sleep in Angelman Syndrome:Data from the Natural History Study (PDF) - 1

Sociodemographic Factors Associated with Positive Genome Sequencing Results in Infants with Congenital Heart Disease (PDF) - 1

Real-world Use of Trofinetide: A Survey of Dosing Strategies from US Rett Syndrome Centers of Excellence (PDF) - 1

HYALINE FIBROMATOSIS SYNDROME: MUSCULOSKELETAL MANIFESTATIONS AND BONE HEALTH (PDF) - 1

Splice rescue of protein-truncating variants is associated with reduced selection pressure and attenuated disease phenotype (PDF) - 1

Clinical profiles of 134 patients with alpha-mannosidosis from the velmanase alfa clinical program and SPARKLE registry (PDF) - 1

Optic genome mapping reveals a complex chromosome rearrangement disrupting SYT1 in an individual with a neurodevelopmental disorder (PDF) - 1

Consistent Genetic Loci Across Different Case Definitions of Kidney Stone Disease: GWAS Findings from the UK Biobank 500K Cohort (PDF) - 1

Expanding Access to Genomic Services in Primary Care: A Retrospective Review of the Primary Care Precision Medicine (PCPM) Clinic (PDF) - 1

Expanding Access to Genomic Services in Primary Care: A Retrospective Review of the Primary Care Precision Medicine (PCPM) Clinic (Audio) - 1

Longitudinal Patterns of Antidepressant Usage in the Context of CYP2C19 Genotype Among All of Us Participants (PDF) - 1

Aortic root dilation is an underrecognized cardiac manifestation of Fabry disease (PDF) - 1

Racial Disparities of VUS Results - Pediatric Neurodevelopmental Disorders (PDF) - 1

Reanalysis of pediatric exome and genome sequencing identifies a high prevalence of actionable pharmacogenetic alleles in children (PDF) - 1

Next-generation phenotyping facilitates the identification of structural brain malformations in rare disorders through computational brain MRI analysis (PDF) - 1

Mental Health and Quality of Life in Thoracic Aortic Disease: Evaluating the Impact of the MacNew Instrument and Support Resources​​​​​​ (PDF) - 1

ClinVar-based reanalysis in the UDN cohort (PDF) - 1

Phenotypic predictors of dual genetic diagnosis in people with autism (PDF) - 1

Enhancing Copy Number Variant Analysis in Exome Sequencing with Backbone Probe Optimization (PDF) - 1

Addressing Undiagnosed Diseases in a Developing Nation: The Indian Undiagnosed Diseases Program (PDF) - 1

Transformative Care Through Genome Sequencing: Insights from the First 100 Patients in the CincyKidsSeq Study (PDF) - 1

The eXtraordinarY Baby Study: Natural History of Infants Identified with XXYY in the Prenatal Period (PDF) - 1

Exploring Ophthalmological Diagnoses in the Undiagnosed Diseases Network: Insights and Implications (PDF) - 1

Identification of rare genetic diseases clusters in the Colombian pacific region: clinical, molecular, and geographical characterization (PDF) - 1

Incidentally Identified Twin Chimerism: A Case Series (PDF) - 1

Penetrance and Phenotypic Findings of Cardiovascular Variants Identified from Biobank, Secondary, and Unanticipated Findings in an Adult Clinical Cohort (PDF) - 1

Two Copies, One Condition? Understanding APOE Allele State in over 14,000 Symptomatic Patients (PDF) - 1

Two Copies, One Condition? Understanding APOE Allele State in over 14,000 Symptomatic Patients (Audio) - 1

Does sponsored genetic testing for pediatric epilepsy expand access? (PDF) - 1

A Decade of Rapid Exome Sequencing at a Tertiary Care Center (PDF) - 1

Development of a Clinical Global Impressions (CGI) Scale for Individuals with Kabuki Syndrome (PDF) - 1

Risk Factors Correlating With MC4R Pathway Variants on Genetic Testing (PDF) - 1

Impacts of stigma on adults with thalassemia in the US: Who is impacted and what can we do? (PDF) - 1

Most Infants with Prenatal Osteogenesis Imperfecta Diagnosis and Poor Prognosis Survive Without Requiring Long-term Respiratory or Feeding Support (PDF) - 1

Retrospective Characterization of Genetics Work-Up for Individuals with RASopathy Diagnosis (PDF) - 1

Enhancing Genomic Data Accessibility with Hypothes.is Parsing Tool for Variant Annotations (PDF) - 1

JOURNEY: A natural history study of limb-girdle muscular dystrophies R3-R5: baseline characteristics of study cohort (PDF) - 1

A Prolonged-Release Formula Has a Positive Impact on Morning Phenylalanine and Tyrosine Fluctuations in Patients with Classical Phenylketonuria (PKU) (PDF) - 1

Analysis of the Clinical and Genetic Characteristics of Twelve Skeletal Disorders in Mexican Patients (Audio) - 1

Analysis of the Clinical and Genetic Characteristics of Twelve Skeletal Disorders in Mexican Patients (PDF) - 1

Diagnostic utility of exome sequencing in patients with suspected mitochondrial disease: A Single-center Experience (PDF) - 1

Biochemical Loss-of-Function Data for SIM1 Increases Probability of Clinical Weight Loss Response to the MC4R Agonist Setmelanotide (PDF) - 1

Exome Sequencing in Patients with Primary Hyperparathyroidism Identifies Pathogenic Variants after Negative Panel Testing (PDF) - 1

A Review of Phenotypic and Genetic Data in Craniofacial Microsomia Cases from a Multidisciplinary Craniofacial Clinic (PDF) - 1

Disease characteristics and tissue frataxin concentrations in adults with Friedreich's ataxia participating in nomlabofusp interventional studies (PDF) - 1

RNA and Reclassification: Assessing RNA Data in Rare Disease (PDF) - 1

Disparities in Variants of Unknown Significance Identification in Underrepresented Populations Undergoing Outpatient Genetic Testing at UMass Memorial Healthcare (PDF) - 1

Assessment of Interpupillary Distance in a Racially/Ethnically Diverse Pediatric Sample from Electronic Health Record Data (PDF) - 1

A novel method for predicting Lp(a) levels from routine outpatient genomic testing identifies those at risk of cardiovascular disease (PDF) - 1

Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: a systematic review and meta-analysis (Audio) - 1

Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: a systematic review and meta-analysis (PDF) - 1

Detection of Copy Number Variants by Chromosome Microarray Verses Exome Sequencing at a Single Clinic over an Eight Year Period (PDF) - 1

Detection of Copy Number Variants by Chromosome Microarray Verses Exome Sequencing at a Single Clinic over an Eight Year Period (Audio) - 1

Evaluating indication for testing based on cluster analysis of human phenotype ontology terms (PDF) - 1

Identification and Diagnostic Protocol for Suspected Acid Sphingomyelinase Deficiency in a Medical Genetics Service in São Paulo (PDF) - 1

Identification and Diagnostic Protocol for Suspected Acid Sphingomyelinase Deficiency in a Medical Genetics Service in São Paulo (Audio) - 1

Clinical Utility and Diagnostic Yield of Comprehensive Genetic Testing in Adults with Intellectual and Developmental Disabilities: A Single-Center Experience (Audio) - 1

Clinical Utility and Diagnostic Yield of Comprehensive Genetic Testing in Adults with Intellectual and Developmental Disabilities: A Single-Center Experience (PDF) - 1

Gastrointestinal emergencies in Cornelia de Lange Syndrome: Clinical characteristics and outcomes from a Single-Center Study (PDF) - 1

CHEK2 and Pediatric Cancer Predisposition (PDF) - 1

Smart Categories: LLM-Based Automatic Tagging of Categorical information in Genomic Articles Outperforms Manual Curators Yielding Improved Curation Efficiency (PDF) - 1

A Clinical Practice Guideline for Genetic Testing in Perinatal Demise: Enhancing Diagnosis Through Multidisciplinary Collaboration (PDF) - 1

Precision Medicine in Action: Implementation and utility of pharmacogenomic testing in a clinical setting (PDF) - 1

Polygenic and rare variant contributions to the genetic architecture of familial hypercholesterolemia in a Mexican registry cohort. (PDF) - 1

Clinical Responses to Off-Label Use of Phenylbutyrate for STXBP1 and SLC6A1 (PDF) - 1

Evaluating the Role of Bevacizumab in Reducing Epistaxis in Patients with Hereditary Hemorrhagic Telangiectasia: A Systematic Review and Meta-Analysis (Audio) - 1

Evaluating the Role of Bevacizumab in Reducing Epistaxis in Patients with Hereditary Hemorrhagic Telangiectasia: A Systematic Review and Meta-Analysis (PDF) - 1

How helpful are sleep studies in determining surgical need in infants with achondroplasia? (PDF) - 1

Evaluating the Clinical Utility of a Cross-Ancestry Integrated Risk Score for Coronary Artery Disease Prevention (PDF) - 1

Obesity Prevalance in DDX3X-Related Neurodevelopmental Disorder (PDF) - 1

Clinical practice guidelines for the diagnosis, management, and surveillance of people with LMNB1 related autosomal dominant leukodystrophyA Consensus-Based Approach (PDF) - 1

Abdominal Aortic Aneurysm in Males as the Predominant Presentation of Vascular EDS in a Family With a Novel COL3A1 Variant (PDF) - 1

Identifying new genotype/phenotype correlations for individuals carrying deleterious RERE variants (PDF) - 1

The Role of Large Language Models in Medical Genetics (PDF) - 1

Clinical Symptom Severity Correlates with Communicative Functioning Difficulties in Cornelia de Lange Syndrome (PDF) - 1

Research analysis of clinical exome sequence data to detect diabetes-related genetic variation (PDF) - 1

The ClinGen Congenital Disorders of Glycosylation Gene Curation Expert Panel (PDF) - 1

Preliminary Findings from the ABCDEFG (Adult Brain Cohort - Dissecting Efficacy and Efficiency of First-line Genome-wide sequencing) Study (PDF) - 1

Real-world Use of Trofinetide: A Survey of Tolerability from US Rett syndrome Centers of Excellence (PDF) - 1

Molecular and clinical diagnostic outcomes of a changing workflow for hypermobility and Ehlers-Danlos syndrome referrals (PDF) - 1

Understanding the disease mechanisms and copy number variations at 17p11.2 locus that do not encompass the dosage sensitive RAI1 gene (PDF) - 1

Establishing Episignatures as a Diagnostic Tool for Diabetic Embryopathy (PDF) - 1

Establishing Episignatures as a Diagnostic Tool for Diabetic Embryopathy (PDF) - 2

Rapid Exome/Genome Sequencing in acute paediatric settings influences acute and long-term management of patients and their families (PDF) - 1

Rapid Exome/Genome Sequencing in acute paediatric settings influences acute and long-term management of patients and their families (Audio) - 1

Deep Phenotyping of thirty-one cases of Aicardi-Goutières syndrome (PDF) - 1

Exome sequencing for diagnostic investigation of 267 children from Brazilian public health system (SUS) followed by reanalysis of negative/inconclusive cases (PDF) - 1

Testing concordance of pathogenicity predictions from orthogonal machine learning algorithms and signal to noise analysis (PDF) - 1

Variant classification is negatively impacted by the absence of biochemical data in published patient reports (PDF) - 1

Studying the role of the DIP2C gene in humans and zebrafish (PDF) - 1

Four Infants with Genetic Variants Previously Associated with Lethal Osteogenesis Imperfecta Who Survived the Neonatal Period: A Case Series (PDF) - 1

Targeted long-read sequencing of native DNA for genetic disease diagnostic and screening research (PDF) - 1

Identification of a Novel Homozygous TMEM53 Variant in a Patient with Extensive Homozygosity:Classification Challenges Despite Phenotypic Consistency with Craniotubular Dysplasia (PDF) - 1

Characterizing the impact of race, ethnicity, and genotype on heart failure outcomes in nonischemic cardiomyopathy (PDF) - 1

Nine categories of pitfalls in initial genetic testing for rare disorders reporting inappropriate negative, inconclusive or positive results (PDF) - 1

Predicting the Significance of Variants in Parkinson's Disease (PDF) - 1

Short Stature and Partial Lipodystrophy along with Hypersomnolence and PCOS: Rarity and Phenotypic Expansion of SHORT Syndrome (PDF) - 1

Frequency of Rare Syndromic Diseases in a Population With Early-Onset Obesity (PDF) - 1

Novel variations in GLI3 zinc-finger transcription factor identified in Indian patients with polydactyly and syndactyly (PDF) - 1

Novel variations in GLI3 zinc-finger transcription factor identified in Indian patients with polydactyly and syndactyly (Audio) - 1

Vosoritide as a targeted therapy for FGFR3-related thanatophoric dysplasia (PDF) - 1

Detection of PTEN Hamartoma Tumor Syndrome (PHTS) and Related Conditions with macrocephaly and lipomas using Electronic Health Record (EHR)Triage. (PDF) - 1

Prediction of tissue frataxin levels with long term administration of nomlabofusp in adults with Friedreich's ataxia using modeling and simulations (PDF) - 1

Multimodal Analysis of Language Regression Using Genome Sequencing, Neuroimaging and Neurophysiologic Findings in a Cohort of Minimal-to-Nonverbal Autistic Children (PDF) - 1

Genetic Characteristic of Thai Patients with Primary Craniosynostosis (PDF) - 1

Expanding the Phenotypic Spectrum of the Nuclear Speckleopathy SRRM2-related Neurodevelopmental Disorder (PDF) - 1

Validating array genotype data in the Million Veteran Program (MVP) for actionable, clinically significant rare variants. (PDF) - 1

Long-Read Genome Sequencing to Diagnose Rare Disease in a State-Funded Study (PDF) - 1

Analyzing the Genetic Causes of Pediatric Inherited Cardiomyopathy in Middle Eastern Patients (PDF) - 1

Effect of Celiprolol on Prevention of Cardiovascular Events in Vascular Ehlers-Danlos Syndrome: A Systematic Review and Meta-Analysis (Audio) - 1

Effect of Celiprolol on Prevention of Cardiovascular Events in Vascular Ehlers-Danlos Syndrome: A Systematic Review and Meta-Analysis (PDF) - 1

A Comprehensive Workflow for Diagnosis and Management of Rare Bone Diseases by Integrating Deep Phenotyping and Genetic Analysis (PDF) - 1

Diagnostic Yield and Clinical Decision-Making in Hereditary Connective Tissue Disorders: Insights from an Adult Genetics Clinic (PDF) - 1

Design of the ACCEL study: A Prospective Clinical Assessment Study in Children with Hypochondroplasia (PDF) - 1

Clinical Genome Sequencing in the Neurodevelopmental Clinic: A Single Center Experience (PDF) - 1

CHARACTERISTIC NEURAL TUBE DEFECTS AND OVERLAP INOEIS COMPLEX AND LUMBAR SYNDROME (PDF) - 1

Pathogenic variant in DACH1 may cause a new neurodevelopmental syndrome with hearing loss and nephropathy (PDF) - 1

Genetic Evaluation of Short Stature: Examination of Ordering Practices and Diagnostic Yield (PDF) - 1

Beyond Boundaries: The Continuous Spectrum in FGFR3-Related Conditions (PDF) - 1

Implementing Preemptive Pharmacogenetic Testing in Populations to Mitigate Adverse Cardiovascular Events and Identify High-Risk Individuals (PDF) - 1

Microdeletion and Microduplication of 15q11.2-q13 share a neurodevelopmental phenotype. (PDF) - 1

Radio-Tartaglia Syndrome in Males, Clinical Data Indicate a Relatively Mild Phenotype with Predominantly Psychiatric Symptoms (PDF) - 1

Defect Detect: Evaluating Diagnostic Rates of Genetic Testing in Infants with Congenital Heart Defects (PDF) - 1

Identification of Genes and Pathways with Varied Expression Using Publicly Accessible RNA-Sequencing Data from Nasal Swabs of COVID-19 Patients (Video) - 1

Identification of Genes and Pathways with Varied Expression Using Publicly Accessible RNA-Sequencing Data from Nasal Swabs of COVID-19 Patients (PDF) - 1

Pediatric Neurologists' Decision-Making Regarding Genetic Testing for Patients with Developmental Delay/Intellectual Disability: A Nationwide Survey in Japan (PDF) - 1

Genetic Counseling for Clinical Sequencing: Addressing Variants of Uncertain Significance in Rare Disease Diagnosis (PDF) - 1

Genetic Counseling for Clinical Sequencing: Addressing Variants of Uncertain Significance in Rare Disease Diagnosis (Audio) - 1

Expanding the Phenotypic Spectrum of ADAMTS2 related Ehlers-Danlos Syndrome, Dermatosparaxis type (PDF) - 1

Let It Grow: Expanding the Phenotype of PPP3CA Mutations to Include Failure to Thrive (PDF) - 1

Genome Sequencing (GS) as a First Test in a Genetics Clinic for Adults. (PDF) - 1

TWIST related disorders in two Mongolian adolescents: case reports and review of the literature (PDF) - 1

Mulvihill-Smith syndrome in a Mongolian adolescent: a case report and review of the literature (PDF) - 1

Mixed and blended Phenotype of Sotos Syndrome and KBG Syndrome: Clinical Features in a Girl with Both Syndromes (PDF) - 1

PATIENT WITH A NOVEL STAG2 MATERNALLY INHERIETED MUTATION AND A NOVEL CELSR3 DENOVO VARTIANT (PDF) - 1

Case Study of Yp11.31 Deletion in XXY Phenotypic Female (PDF) - 1

Chromosomal Rearrangements Resulting in Beckwith-Wiedemann Syndrome and Beyond (PDF) - 1

Mosaic 46, XY / 47, XXY With SRY Deletion in a Female With Complete Gonadal Dysgenesis: The Second Documented Case (PDF) - 1

The Importance of Karyotyping in an Age of Sequencing: A Rare Cause of Campomelic Dysplasia (PDF) - 1

An Unusual Cause of Hexokinase 1 Deficiency (PDF) - 1

Follow the Family History: Neonatal Diagnosis of YARSopathy and Congenital CMV (PDF) - 1

Identification of CNKSR2 Pathogenic Variant and Detection of Strong X-chromosome Inactivation in a Female with Severe DEE-SWAS (PDF) - 1

Genotype-Phenotype Analysis of Interstitial Deletion of Chromosome 4q25q28.2: A Case Report (PDF) - 1

Alpha-Mannosidosis: A Case Report on Diagnostic Challenges, Enzyme Replacement Therapy, and ongoing Hematopoietic Cell Transplantation (PDF) - 1

A New Case of Fucosidosis with a Novel Homozygous Pathogenic Variant and a 17.2 Mb Region of Homozygosity (PDF) - 1

Atypical Reactions to Infantile Spasms Medications in a Child with UNC80 Deficiency (PDF) - 1

Familial presentation and variability in TRPV4 Brachyolmia Type 3 (PDF) - 1

Identification of a PTH1R Gene Variant in a Family with Primary Failure of Tooth Eruption: A Case Report (PDF) - 1

Expanding the Phenotype of EBF3-related Disorders- A Case of Pierre Robin Sequence with Cleft Palate (PDF) - 1

An Atypical Presentation of Werner Syndrome in a patient with a novel likely pathogenic variant in WRN: A Case Report (PDF) - 1

An Atypical Case of Pseudohypoparathyroidism 1b due to Uniparental Hetero- and Isodisomy Detected by Genome Sequencing (PDF) - 1

A Rare and Treatable Cause for Unexplained White Matter Lesions: Partial Biotinidase Deficiency (PDF) - 1

Unique Case of Mosaic 8q21.1-q24.3 deletion and duplications Linked to Langer-Giedion and Cornelia de Lange Syndromes Presenting with Recurrent Fractures (PDF) - 1

Closing the loop: biochemical analysis and the VUS dilemma (PDF) - 1

An elusive diagnosis of congenital methemoglobinemia type II (PDF) - 1

A Case Report: Expanding the Phenotypic Spectrum of EIF5A-Related Neurodevelopmental Disorder (PDF) - 1

Novel Presentation of Congenital Bile Acid Synthesis Defect-3 with Skeletal Abnormalities and Hypotonia (PDF) - 1

GM3 synthase deficiency: case report of an atypical presentation (PDF) - 1

UGT1A4*3 ultrarapid metabolizer genotype: A case report (PDF) - 1

Case Report: Snijders Blok-Campeau Syndrome (SNIBCPS) and Chronic Pancreatitis; Expanding the Phenotype. (PDF) - 1

Incomplete Penetrance Associated With A Familial Loss of Function NAA15 Variant (PDF) - 1

Novel Inheritance Pattern of Marfan Syndrome due to FBN1 Translocation: Diagnostic Utility of FISH and Implications for Genetic Counseling (PDF) - 1

Expanding the phenotype of biallelic variants in the MYBPC3 gene: sudden death in a teenager with a structurally normal heart. (PDF) - 1

Biallelic Pathogenic Copy Number Variants in VPS13B Resulting in Cohen Syndrome (PDF) - 1

Thirty-Year Odyssey to Dual Diagnoses: Value of Longitudinal Genetics Follow-Up (PDF) - 1

A case of Neurodevelopmental-Craniofacial Syndrome with Variable Renal and Cardiac Abnormalities due to a de novo heterozygous ZMYM2 pathogenic variant. (PDF) - 1

High-throughput sequencing technologies uncover a loss-of-function variant of the GATAB2B gene in a GAND patient (PDF) - 1

RAD51-Related Fanconi Anemia is Commonly Associated with VACTERL: Expanding the Phenotypic Spectrum with a Fifth Reported Case (PDF) - 1

Expanding the genotypic and phenotypic description of an ultra-rare condition: A neonatal presentation of spondylo-ocular syndrome (PDF) - 1

Inherited SHANK1 pathogenic variant in 3-year-old male with neurodevelopmental delay, behavioral challenges, laryngomalacia and overgrowth: a case report (PDF) - 1

Expanding the phenotype of 16p11.2 Microduplication Syndrome: Different presentation in three family members with new clinical findings (PDF) - 1

ACTC1 variants result in a phenotype resembling Noonan syndrome (PDF) - 1

Hutchinson-Gilford Progeria Syndrome due to homozygous missense variant of LMNA gene (PDF) - 1

Recurrent TRAPPC11 variant in South Dakota's Hutterite Population (PDF) - 1

Further Delineation of the ACTG1-Associated Baraitser-Winter Cerebrofontofacial Syndrome Phenotype (PDF) - 1

TACSTD2-Related Gelatinous Drop-like Corneal Dystrophy: An Asymmetrical Exception (PDF) - 1

Clinical Spectrum of Autosomal Recessive Spliceosomal Gene CWC27 Variants (PDF) - 1

A Case Report of Meckel Gruber Syndrome: Identification of an Unreported Variant Correlating with Diagnosis (PDF) - 1

Macroglossia and elevated lactate as initial presenting features for cardiofaciocutaneous syndrome (PDF) - 1

Alport syndrome with a Novel COL4A3 Gene Alteration presenting with recurrent vertebral artery dissections: Case report and Literature Review (PDF) - 1

Case report: Lymphedema, large spinal cyst, and myelopathy in a pediatric patient: Autosomal Dominant Lymphedema-Distichiasis Syndrome (LDS). (PDF) - 1

Beyond NGS: Detailed Analysis of Sanger, MLPA and RNA Confirms Tuberous Sclerosis Complex in Clinically Diagnosed Patients (PDF) - 1

VPS50-Related Neurodevelopmental Disorder: Insights from the Fourth Reported Case (PDF) - 1

Late Onset Biotinidase Deficiency Misdiagnosed as Neuromyelitis Optica: A Case Report and Review of Diagnostic Challenges (PDF) - 1

Identification of a Novel RPS6KA3 Variant in a Female Child with Features of Coffin-Lowry Syndrome: A Case Study (PDF) - 1

Decoding Mosaicism: Unraveling the Mystery of PTCH1 Variants in a Novel Neurocutaneous Syndrome (PDF) - 1

Rare Adult Case of Stüve-Wiedemann Syndrome (PDF) - 1

New Familial Variant Identified in CSDE1-Associated Neurodevelopmental Disorder (PDF) - 1

Male non-lethal FLNA phenotypes: medical and counseling challenges (PDF) - 1

PTEN and WDR19 Variants in a Neonate with Brain and Cutaneous Anomalies (PDF) - 1

Improvement in Refractory Bone Pain with Infliximab in an Adolescent with Camurati-Engelmann Disease (PDF) - 1

First Report of an Inherited MYCBP2 Neurodevelopmental Disorder: Review of Proband and Parent Presentation (PDF) - 1

Novel UBA1 Variant Associated with Attenuated X-linked SMA Phenotype (PDF) - 1

Characterization of a Balanced Translocation Disrupting SOX9: Implications for Campomelic Dysplasia (PDF) - 1

Considerations and Challenges in Genetic Testing for Hypermobile Ehlers-Danlos Syndrome (hEDS): A Multidisciplinary Overview (PDF) - 1

A 6-Year-Old Male Presenting with X-Linked Intellectual Development Disorder Due to a Unique Pathogenic Truncating Variant in IL1RAPL1 (PDF) - 1

Case Series of Nizon-Isidor Syndrome by heterozygous variants in MED12L with one case generating chromosomal instability through Diploid-Triploid Mosaicism (PDF) - 1

Case Series of Nizon-Isidor Syndrome by heterozygous variants in MED12L with one case generating chromosomal instability through Diploid-Triploid Mosaicism (Audio) - 1

Cartilage-Hair Hypoplasia: Expanding the Association of Severe Prenatal Skeletal Findings (PDF) - 1

Exploring Genotypic Diversity in Angelman-Like Syndromes: Clinical Implications (PDF) - 1

KAT7 variants cause deficient histone acetylation in a new neurodevelopmental disorder with cerebellar anomalies. (PDF) - 1

A Case Report Using Ancestry-adjusted Genome-wide Polygenic Risk Scores with 7,000 Serum Protein Testing to Improve Intervention and Outcome (PDF) - 1

Bilateral pheochromocytomas in Von Hippel-Lindau disease (PDF) - 1

A Case of Developmental and Epileptic Encephalopathies Without Epilepsy (PDF) - 1

Complex mosaicism for up to three marker chromosomes causing partial trisomy for portions of 1p and 10p-10q: a case (PDF) - 1

New Pathogenic Variant in WT1 Disorder in Previously Healthy 3-Year Old Patient (PDF) - 1

Enhanced Diagnostic Precision: A Case Study Supporting Broad Genetic Testing in the Evaluation of Skeletal Disorders (PDF) - 1

Aqueductal Stenosis and Hydrocephalus in TUBA1A-Associated Tubulinopathy: Expanding the Genotypic and Phenotypic Spectrum (PDF) - 1

Genome sequencing reveals a novel, homozygous in-frame deletion, c.367_375del, in CYP2U1 in twin sisters with early onset spastic paraplegia (PDF) - 1

Identification of ZMIZ1-related Neurodevelopmental Disorder in Neonates with Atrioventricular Septal Defects: Expansion of Phenotypes and Implications for Counseling (PDF) - 1

Partial de novo SOX6 duplication in a patient with macrocephaly, overgrowth and developmental regression (PDF) - 1

Genetic Insights into Snijders Blok Campeau Syndrome: A Case Study of a Homozygous CHD3 Variant and Comorbidities (PDF) - 1

PIK3CA-related Overgrowth Syndrome: To Exome or Not? (PDF) - 1

A Novel MRTFB Missense Variant, c.479T>C p.(Leu160Pro), in a School-Aged Girl With Neurodevelopmental Disorder (PDF) - 1

Case Report of Pediatric Onset CSF1R-Related Disorder (PDF) - 1

Broadening molecular and phenotype spectrum including thrombocytopenia in KAT6A-associated condition (PDF) - 1

Novel Biallelic LIG3 mutations causing lethal phenotype of mtDNA depletion syndrome 20; a case solved by multi-omics research re-analysis (PDF) - 1

Congenital knee and hip dislocations with brain malformation in an infant with a supernumerary chromosome +der(9)t(5;9) (PDF) - 1

Kleefstra Syndrome-1 Presenting with Peters Anomaly and Syndactyly: Phenotypic Expansion (PDF) - 1

FLNA Deficiency in a 27-Year-Old Woman: Spontaneous Pneumothoraces and Unique Lung Histopathology (PDF) - 1

Expanding the Phenotype: A Novel Case of VPS45 Deficiency with HLH and Progressive Neurological Involvement (PDF) - 1

Research re-analysis of raw genomic data leads to the first described inherited case of CLDN5 in two brothers. (PDF) - 1

A case of bilateral congenital hypoplastic testes leading to an unexpected diagnosis of X-linked trichothiodystrophy (PDF) - 1

A Rare Presentation of 1q32q42 Associated with a Complex Adverse Phenotype (PDF) - 1

Mosaic double aneuploidy: a rare case of 45,X/47,XX,+18 mosaicism and review of the literature (PDF) - 1

A Missense and Nonsense Variant Combination in COASY Resulting in Severe Prenatal Onset PCH12: Expanding the Clinical and Genetic Spectrum (PDF) - 1

A Missense and Nonsense Variant Combination in COASY Resulting in Severe Prenatal Onset PCH12: Expanding the Clinical and Genetic Spectrum (Audio) - 1

Deletions of the 19q13.11 region involving SCN1B are risk factors for febrile seizures (PDF) - 1

Cleidocranial Dysplasia (CCD): a genetic tale of time where bones bend and knowledge expands. (PDF) - 1

Hunter Syndrome and Hemophilia A: A Case of Two X-Linked Syndromes Occurring in One Individual (PDF) - 1

Atypical Presentation of Alexander Disease in a 4-Month-Old Infant: Emphasizing the Importance of Integrated Genetic and Biochemical Testing (PDF) - 1

Incidental Findings in Rapid Exome and Genome Testing in Pediatric ICU: Clinical and Psychological Implications (PDF) - 1

Expanding the Phenotype of Newly Described ZBTB47-related Neurodevelopmental Disorder (PDF) - 1

10p12.1p11.21 microdeletion including WAC and ZEB1: A case report and literature review (PDF) - 1

Unpacking Genotype-Phenotype Correlation in DNM1 Encephalopathy: Two unusually mild cases with variants in the GTPase and proline-rich domains (PDF) - 1

Familiar Segregation of Autosomal Dominant of 46,XY DSD With Mutation in NR5A1 (PDF) - 1

From Short Stature to Facioscapulohumeral Muscular Dystrophy-2: The Benefits and Challenge of Broad-Based Sequencing (PDF) - 1

Expanding the Phenotype of Dyggve-Melchior-Clausen Syndrome and Smith-McCort Dysplasia: A Rare Case of Skeletal Dysplasia (PDF) - 1

Early Diagnosis and Clinical Phenotype of GAND Syndrome (PDF) - 1

Tetrasomy 9p in a patient affected with dilated cardiomyopathy: incidental finding or extended phenotype? (PDF) - 1

NFIX variants may cause a neurodevelopmental disorder without the dysmorphic features of Malan syndrome (PDF) - 1

A Novel SCN5A Variant of Unknown Significance in Brugada Syndrome: A Case for Reclassification (PDF) - 1

Cerebellar Ataxia, Impaired Intellectual Development, and Disequilibrium Syndrome-2: Expanding the Phenotype (PDF) - 1

Dual diagnosis in a patient with mosaic Trisomy 22 and a de novo frameshift variant in ASXL3 (PDF) - 1

Enhanced Access to Genome Sequencing and the Era of Multiple Genetic Diagnoses: Advantages and Limitations (PDF) - 1

Unmasking Turner Syndrome in a Patient with Long QT Syndrome: A Case Report and Review of Clinical Implications (PDF) - 1

Learning from Artificial intelligence: Leveraging AI to Modify a Direct-to-Consumer Genetic Testing Point of Care Tool. (PDF) - 1

Utilization of a REDCap GeneResultTool for Returning HFE Pathogenic Results (PDF) - 1

Preaching to the Choir: Genetics Providers Must Break Out of Their Silos to Integrate Genomics in All of Medicine (PDF) - 1

VEPerform: A Web Resource for Evaluating the Performance of Variant Effect Predictors (PDF) - 1

Review of genomic education in the preclerkship at U.S medical school (PDF) - 1

Distinction in Genetics in the Preclerkship: a Pathway to Enhance Medical Students Exposure to Clinical Genetics. (PDF) - 1

Leveraging DNA Methylation Towards Comprehensive Rare Disease Diagnostics (PDF) - 1

Exploring the Influence of Genetic Literacy on Research Participation Among Underrepresented Populations (PDF) - 1

The First Online Genetic Assistant Training Program: Curriculum, Student Demographics and Outcomes (PDF) - 1

Lamin A/C-Related Dilated Cardiomyopathy: Patient-derived Induced Pluripotent Stem Cells to Study Mutation and Cell Type-specific Pathogenic Mechanisms of Heart Disease (Audio) - 1

Lamin A/C-Related Dilated Cardiomyopathy: Patient-derived Induced Pluripotent Stem Cells to Study Mutation and Cell Type-specific Pathogenic Mechanisms of Heart Disease (PDF) - 1

Achieving Consensus on a Prenatal Patient Education Resource about Spina Bifida (PDF) - 1

Family Members' Knowledge and Perspectives on Alzheimer's Disease in People with Down Syndrome (PDF) - 1

Patient Uptake of Genetic Counseling in the eMERGE Network: Initial Experiences Returning Polygenic and Monogenic Results using Microsoft Bookings (PDF) - 1

Put It in the Tracking Database!' Using REDCap to Enhance Patient Outcome Tracking in a Tertiary Genetics Clinic (PDF) - 1

Family Ties: A Detroit Community Hospital Quality Improvement Project to Improve Post-Test Genetic Counseling for Patients Tested by Non-Genetics Providers (PDF) - 1

Characterizing a Cohort of Parkinson's Disease Patients and Controls in a Peripheral Biomarker Development Study (PDF) - 1

First Report of two cases of ReNU (RENU) syndrome from Southeast Asia (PDF) - 1

Hyperammonemia in the Acute Catabolic State (PDF) - 1

Chatbot-assisted Informed Consent in Genomics Research (PDF) - 1

Diversity of Brazilian Ancestry in 3 Cohorts: Challenges and Insights for Precision Medicine (PDF) - 1

Disparities in Access and Outcomes for Hospitalized California Patients with Huntington's Disease (HD). (Audio) - 1

Disparities in Access and Outcomes for Hospitalized California Patients with Huntington's Disease (HD). (PDF) - 1

Payer Perspectives of Genomic Testing: Results from a Systematic Literature Review (PDF) - 1

Prenatal Aneuploidy Screening and Testing Decisions: A Qualitative Study of Patient Motivations and Misconceptions in the Age of Cell-Free DNA (PDF) - 1

Examining Sociodemographic Factors Associated with Genomic Research Participation: Evidence from a Pediatric Rapid Sequencing Study (PDF) - 1

Assessment of Inborn Errors of Metabolism genes on the Recommended Uniform Screening Panel using the ClinGen Clinical Validity framework (PDF) - 1

Rare Disease Support Networks Lack Accessibility for Non-English Speaking Patients. (PDF) - 1

Identifying Unmet Needs: Experiences of Black and Latin-X Pregnant People Undergoing Prenatal Diagnosis for Ultrasound Identified Fetal Anomalies (PDF) - 1

Assessing the Value of Rare Disease Research: A Qualitative Study of Investigators' Perspectives (PDF) - 1

Implementing Next-Generation Sequencing as Part of Newborn Screening in State Public Health Laboratories: Status and Barriers (Audio) - 1

Implementing Next-Generation Sequencing as Part of Newborn Screening in State Public Health Laboratories: Status and Barriers (PDF) - 1

The Perception of Disability in Prenatal Genetic Screening and Counseling: An Ethical Analysis of Current Practice (PDF) - 1

ScreenPlus Parental Attitudes on the Use of Residual Dried Blood Spots (Audio) - 1

ScreenPlus Parental Attitudes on the Use of Residual Dried Blood Spots (PDF) - 1

Newborn Sequencing: Approaches taken by programs around the globe (PDF) - 1

Prenatal Genomic Testing and Abortion: Parental Perspectives in the Context of a Fetal Structural Anomaly (PDF) - 1

Developing a Press Release Guide for Ethical, Legal, and Social Issues of Genomic Research (PDF) - 1

Participants' Experiences with and Perspectives on Genomic Research in the University of Wisconsin Undiagnosed Disease Program (PDF) - 1

FROM DEFICIT TO DIFFERENCE: DEPATHOLOGIZING THE LANGUAGE OF GENETICS (Audio) - 1

FROM DEFICIT TO DIFFERENCE: DEPATHOLOGIZING THE LANGUAGE OF GENETICS (PDF) - 1

The Impact of Patient Race and Polygenic Risk Scores on Genetic Counselors' Risk Assessment and Management in Breast Cancer Vignettes (PDF) - 1

Implementing Homocysteine into First-Tier Mass Spectrometry Tests in Newborn Screening for Detection of Homocystinurias in New York State (PDF) - 1

Ableism and Modern Eugenics in Heritable Human Genome Editing (PDF) - 1

Assessing the Impact of Provider-Patient Ethno-Racial and Linguistic Concordance on Knowledge and Attitudes of Underrepresented Populations towards Genetic Counseling (PDF) - 1

Adolescents' experiences and perspectives of genetic testing and its personal utility (PDF) - 1

Parental Perspectives on Pediatric Genomic Testing, Research, and Data Management in a Multicultural Population (PDF) - 1

Exploring Attitudes Towards a New Genetic Test: Potential Applications and Ethical Considerations of Parent-of-Origin-Aware Genomic Analysis (PDF) - 1

Evaluation of Researcher Knowledge and Attitudes of Community Engagement in Genomics Research and Biobanking (PDF) - 1

Atypical and Extra Sex Chromosomes: A case series of the increasingly abnormal sex chromosome aneuploidies referred to medical genetics. (PDF) - 1

The impact of consanguinity on birth outcomes: implications for healthcare and genetic counseling practices in the United States (PDF) - 1

Long-chain fatty acid oxidation disorders: A review of newborn screening around the globe for LC-FAOD (PDF) - 1

Pharmacogenomic Implications of Genes on the American College of Medical Genetics Secondary Findings List (PDF) - 1

Decreasing disparities in inherited cancer syndromes through a systems approach, the At-Risk Cancer Genetic Syndrome Identification (ARCAGEN-ID) system (PDF) - 1

Rapid Genomic Testing: A Retrospective Study of Institutional Utilization and Outcomes (PDF) - 1

Multidimensional Utility of Genomic Autopsy for Infant Mortality (PDF) - 1

Comparing automated vs. ACMG/AMP-based variant interpretation for the CDC Tier 1 conditions in a clinicogenomic cohort from US-based health systems (PDF) - 1

Customized 'Clinical Interpretive Reports' of Genomic Sequencing Results for Non-Genetics Providers in Safety-Net Neonatal Intensive Care Units: Development and Implementation (PDF) - 1

Improved breast cancer screening adherence among participants receiving a negative result from a multi-health system Population Genomics Screening program (PDF) - 1

Pathways to Precision Cancer Care: Integrating Genetic Services into a Nationwide, Risk-Adjusted Cancer Program (PDF) - 1

Screening Newborns for Type 1 Diabetes Risk: The Early Check Experience (PDF) - 1

Rapid Genome Sequencing Identifies Treatable Conditions in Non-critically Ill Hospitalized Children (PDF) - 1

What Comes Next?: Follow Through Care for Infants with Rare Genetic Conditions (PDF) - 1

Comparison of high polygenic risk score for hypercholesterolemia and Familial Hypercholesterolemia risk in the eMERGE IV study (PDF) - 1

Unique outcomes from curated genome sequencing for newborn screening: Challenging results from the Early Check project (PDF) - 1

Parental needs during pediatric whole genome sequencing for developmental disorders: an interview study (PDF) - 1

A Scoring System to Balance Genetic Counselor Work across Different Clinics (PDF) - 1

Clinical Genomic Screening Informed Consent Concepts and Strategies: A Rapid Scoping Review (PDF) - 1

The Genetic Testing USAGE (Utility Survey in an Adult Genetics Environment) Study (PDF) - 1

Optimization of Clinical Efficiency: Evaluation of a Patient-Centered Alternative Genetics Care Provision Model for Individuals with Autism (PDF) - 1

Health Communication Needs and Preferences of Clinicians Returning Hypercholesterolemia Results (PDF) - 1

Predicted Outcomes of Universal Genetic Counselor First Appointments in a Pediatric and General Genetics Clinic (PDF) - 1

An efficient alternative model of genetic counseling to deliver services at the Saguenay-Lac-Saint-Jean region in Quebec. (PDF) - 1

Maximizing Equity in Newborn Screening via Reporting Variants of Uncertain Significance (VUS) (PDF) - 1

Assessing Patient Experience with Informed Consent for Genetic Testing in the Inpatient Setting (PDF) - 1

Developing an Actionability Framework for Population Genomic Screening (PDF) - 1

Implications and Ramifications of Using the CDC Tier 1 Genetic Screening Concept in East Asian Populations (PDF) - 1

Practical Implications and Results of Clinical Exome and Genome Order Review at a Pediatric Academic Medical Center (PDF) - 1

Perspectives from an Asian population regarding reproductive carrier screening implementation (PDF) - 1

Newborn Screening Follow Up in Rural Indiana: A 10-year Retrospective Review (PDF) - 1

The Initial Four-Year Experience of an Adult Genomic Health Clinic (GHC) (PDF) - 1

Adherence to clinical follow-up care in patients identified with familial hypercholesterolemia through population genetic screening program (PDF) - 1

Improving Access to Genetics Care through Development and Implementation of Standardized Education and Training of Advanced Practice Providers (PDF) - 1

Incorporating Genomic Medicine to Improve Risk Stratification in Severe Hypercholesterolemia: Comparing Implementation Outcomes from Two Health Systems (PDF) - 1

Mainstreaming Genomic Testing to Increase Diagnostic Accessibility for Adults with Intellectual and Developmental Disabilities (PDF) - 1

Impact of Population Genomic Screening on Patient Behavior and Care: Changes in Preventive Screening Behaviors Among HBOC Positive Individuals (PDF) - 1

Risk Factors for Malignant Hyperthermia Crises and Subsequent Complications to Inform Model Development for Population Newborn Screening (PDF) - 1

Assessment of Barriers to Breast MRI Screening in Individuals Identified as High-Risk for Breast Cancer (PDF) - 1

The Health Economics of Lynch Syndrome Screening in Colorectal Cancer: When Genetic Testing is Cost-saving in a Middle-Income Country (PDF) - 1

BeginNGS: Nest digital genetics navigator facilitates scale while preserving participant experience and education. (PDF) - 1

A Pilot Study to Evaluate the Influence of a Clinician Outreach Effort for VUS Resolution in Limb-Girdle Muscular Dystrophy (PDF) - 1

Enhancing Inclusivity in Public Health and Genetic Research Through Culturally and Linguistically-Tailored Genetics Education Materials (PDF) - 1

Enhancing Ultra-Rare Disease Diagnoses through Multi-Omics Integration and Multi-Site Collaboration in the Indiana University Undiagnosed Rare Disease Clinic (URDC) Cohort (PDF) - 1

Enhancing Ultra-Rare Disease Diagnoses through Multi-Omics Integration and Multi-Site Collaboration in the Indiana University Undiagnosed Rare Disease Clinic (URDC) Cohort (PDF) - 2

Bi-allelic RAB5IF Variants Associated with Craniofacial and Skeletal Anomalies: Further Insights into CFSMR2 Syndrome (PDF) - 1

Bi-allelic RAB5IF Variants Associated with Craniofacial and Skeletal Anomalies: Further Insights into CFSMR2 Syndrome (PDF) - 2

A multiplexing droplet digital PCR approach to obtain accurate CYP2D6 copy number in the presence of rare variants (PDF) - 1

A multiplexing droplet digital PCR approach to obtain accurate CYP2D6 copy number in the presence of rare variants (Audio) - 1

ANALYTICAL PERFORMANCE EVALUATION OF WHOLE GENOME SEQUENCING AS FIRST-LINE GENETIC TESTING FOR INTELLECTUAL DEVELOPMENT DISORDERS AND CONGENITAL MALFORMATIONS (PDF) - 1

ClinGen Curation of ClinVar: Improving a Critical Community Resource (PDF) - 1

Genome Screening of Newborns: what can we find and what's next? (PDF) - 1

Learning phenotypes from 4M+ patients with paired genotypes and phenotypes (PDF) - 1

Genomics for KIDS in ASEAN: Improving access to genomic testing through regional collaborations in Southeast Asia (PDF) - 1

Clinical Impact of RNA Sequencing on VUS Resolution in a Diverse Rare Disease Cohort of Over 100,000 Patients (PDF) - 1

Reactive curation of monogenic gene-disease associations in a rapid genome sequencing lab (PDF) - 1

Detection of Chromosomal Mosaicism - The importance of Karyotyping and FISH (PDF) - 1

Excavator: Removing the Noise in Exome Analysis Using Machine Learning (PDF) - 1

Reevaluating the standard approach to genomic testing in infants: Targeted genomic testing vs. exome/genome sequencing as a first-tier test (Audio) - 1

Reevaluating the standard approach to genomic testing in infants: Targeted genomic testing vs. exome/genome sequencing as a first-tier test (PDF) - 1

Ten Years of Experience with an Iterative, Points-based Variant Classification Framework (PDF) - 1

Facilitating Machine Learning and Artificial Intelligence in Genetic Databases: An Open-Source Tool for Data Integration and Summarization (PDF) - 1

Mobile Element Insertion Detection in Genome Sequencing of a Cohort of Unsolved Cases (PDF) - 1

Functional screening of SMARCD1 genetic variants implicated in neurodevelopmental disorders using a novel Drosophila-based humanised rescue assay (PDF) - 1

Reflex RNA Sequencing for Enhanced Variant Classification on ES/GS Improves Patient Outcomes (PDF) - 1

StarPhase: Leveraging Long-Read Sequencing to Update Pharmacogenomic Benchmarks (PDF) - 1

Improving Rare Disease Diagnosis: Performance of an Automated Pipeline for Genomic Reanalysis (PDF) - 1

Automated reanalysis of clinical genomic data in undiagnosed patients (PDF) - 1

The clinical utility of genome sequencing in the molecular diagnosis of genes related to inborn errors of metabolism (PDF) - 1

Considerations of Variant Interpretation in Galactosemia: Challenges of Creating ACMG Specifications for GALT (PDF) - 1

Introns to Insights: The Transformative Power of RNA Sequencing in the Diagnosis of Rare Genetic Disorders (PDF) - 1

Using Functional Data for VUS Reclassification in Cancer Predisposition Genes (PDF) - 1

Real-World Evaluation of ExpansionHunter for Detecting STR Expansions in Whole-Exome Sequencing Data: Insights from a Clinical Diagnostic Setting (PDF) - 1

Prognostic Factors for Pediatric Osteosarcoma (PDF) - 1

Scalable Classification of Rare Diseases Across Research Studies (PDF) - 1

Shades of Grey in a Binary World: Clinician Preferences for Appearance of Uncertain Results in the Electronic Medical Record (PDF) - 1

Founder effect and endogamy result in the high prevalence of Junctional Herlitz Epidermolysis Bullosa in a community from Southern India (PDF) - 1

Clinical Utility of Exome and Genome Sequencing in an Adult Cohort Referred for Suspicion of Underlying Rare Disease (Audio) - 1

Clinical Utility of Exome and Genome Sequencing in an Adult Cohort Referred for Suspicion of Underlying Rare Disease (PDF) - 1

A Clinical Laboratory's Approach to Curating Unexpected Variants in Pharmacogenes (PDF) - 1

A Clinical Laboratory's Approach to Curating Unexpected Variants in Pharmacogenes (Audio) - 1

Enhancing Interoperability to Enable Broader Adoption of Artificial Intelligence in Chromosome Analysis and Karyotyping: A Pilot Evaluation (PDF) - 1

Implementation of cfDNA Pancreatic Cancer Test in High-Risk Patients with Genetic and/or Family History of Cancer in a Clinical Setting (PDF) - 1

Classification of nontruncating variants in the PKD1 gene based on the large internal database (PDF) - 1

NEGR1 Intragenic Exonic Deletions Strengthen the Association with Neurodevelopmental Disorders (PDF) - 1

Empowering Clinicians to Resolve VUS: Presenting VUS Clarification Outcomes (Audio) - 1

Empowering Clinicians to Resolve VUS: Presenting VUS Clarification Outcomes (PDF) - 1

Clinical features and molecular findings of a rare case of LGMDR18 (PDF) - 1

Enhancing Genetic Diagnostics: The Critical Role of Enzyme Activity Assays and RNA-Sequencing as Primary Multi-Omics Screening Tools (PDF) - 1

The Evolving Genetic Landscape of Phelan-McDermid Syndrome and Implications for Diagnostics (Audio) - 1

The Evolving Genetic Landscape of Phelan-McDermid Syndrome and Implications for Diagnostics (PDF) - 1

RNA Analysis and Long Read Sequencing Identify Causative APC Complex Rearrangement in Unsolved FAP Case (PDF) - 1

Advancing Scientific Annotation: Introducing LEAP for Efficient Literature Review (PDF) - 1

Role of de novo variants in genetic disorders with new insights and clinical implications (PDF) - 1

Functional Studies in Fibroblasts Cultured from Patients with Inborn Errors of Vitamin B12 Metabolism (PDF) - 1

Performance evaluation of a PCR/Nanopore workflow for carrier screening for Cystic Fibrosis, Spinal Muscular Atrophy, and Fragile X Syndrome (PDF) - 1

Molecular diagnosis of DMD-related dystrophinopathies in patients with non-representative phenotypes by using a broad neuromuscular next generation sequencing (NGS) panel (PDF) - 1

Development of TAF1 genotyping assay for X-linked dystonia-parkinsonism-associated haplotype detection (PDF) - 1

Natural Language Processing for Deep Phenotyping of Patients Receiving Genomic Testing Enables Effective Gene Prioritization in a Clinical Diagnostics Pipeline (PDF) - 1

Improved Karyotyping Efficiency with Artificial Intelligence: a Multicenter Evaluation of Peripheral Blood Karyogram (PDF) - 1

A Single-Center Reevaluation and Reanalysis of Copy Number Variants of Uncertain Significance Detected by Chromosome Microarray From Consecutive Pediatric Patients (PDF) - 1

Opportunistic screening for broad range of clinically relevant secondary findings: Outcomes of exome analysis in the Incidental Genomics RCT (PDF) - 1

A Master in Mimicry: Expanding the Renal Phenotype of COL4A1-Related Disorders (PDF) - 1

Impact of Gene-Disease Specific Guidelines on Variant Reclassification in a Clinical Hereditary Cancer Setting (Audio) - 1

Impact of Gene-Disease Specific Guidelines on Variant Reclassification in a Clinical Hereditary Cancer Setting (PDF) - 1

A Multi-Site Study of Constitutional Ring Chromosomes from 14 Cytogenetics Laboratories in the United States (Audio) - 1

A Multi-Site Study of Constitutional Ring Chromosomes from 14 Cytogenetics Laboratories in the United States (PDF) - 1

An Ensemble Feature Selection and Nested Cross-Validation Approach Using miRNA Profiles for the Automated Detection of Usher Syndrome (PDF) - 1

Genetic Testing for Inherited Red Blood Cell Disorders: Diagnostic Yield and Clinical Utility (PDF) - 1

Genetic Testing for Inherited Red Blood Cell Disorders: Diagnostic Yield and Clinical Utility (Audio) - 1

Impact of Sample Age on RNA Sequencing Metrics from FFPE Tissues Using Ion Torrent GenexusTM Integrated Sequencer (PDF) - 1

Resolution of newborn screening results via targeted long-read sequencing (PDF) - 1

Nanopore sequencing for robust detection of DNA methylation signatures (PDF) - 1

AI-supported Identification of Disease-Gene Relationship Publications (PDF) - 1

MYH11 triplosensitivity in TAAD and 16p13.11 microduplication syndrome: a supportive case series (PDF) - 1

Accurate genotyping of high homology HBA and SMN genes from whole exome sequencing (PDF) - 1

UNDERSTANDING PRENATAL CHROMOSOMAL ABNORMALITIES; IMPORTANCE OF BOTH CHROMOSOMAL AND MICROARRAY ABERRATIONS (PDF) - 1

Clinical Exome Sequencing Efficacy and Phenotypic Expansions involving Congenital Anomalies of Kidney and Urinary Tract (CAKUT) (PDF) - 1

Lab-on-Chip Multiplexed qPCR Analysis Utilizing Melting Curve Analysis Detects Up to 144 Alleles with Sub-hour Turn-around Time (PDF) - 1

Impact of Variant Reclassification: Insights from Greenwood Genetic Center (PDF) - 1

A Virtual Registry of 9K Leigh Syndrome and Primary Mitochondrial Disease Cases Constructed through Semi-Automated Literature Mining and Expert Curation (PDF) - 1

Enhancing the Validity of Whole-Genome Association Studies: A Privacy-Preserving HWE Quality Control Method for Large-Scale Biobank Data (PDF) - 1

Systematic reanalysis of clinical genome sequencing data in a cohort of acute care patients. (PDF) - 1

Investigating the diagnostic yield of long read sequencing in a selected cohort of families with undiagnosed disease (PDF) - 1

Comparison of prenatal cell-free DNA screen positive for monosomy X with diagnostic maternal and fetal cytogenetic studies: a single-center study (PDF) - 1

Genetic Findings in Over 500 Individuals Tested with a Spastic Paraplegia Gene Panel (PDF) - 1

Genetic Findings in Over 500 Individuals Tested with a Spastic Paraplegia Gene Panel (Audio) - 1

Survey results reveal barriers and solutions to the use of functional data in variant interpretation (PDF) - 1

Enhancing Laboratory Efficiency: Implementation of Revvity Transcribe AI for Automated Data Entry in Newborn Screening (PDF) - 1

Testing Indications and Diagnostic Yield of Clinical Exome Sequencing in a US Midwestern Patient Cohort (PDF) - 1

Post-translational processing of GAA protein associated with GAA variants may explain the clinical variability observed amongst Pompe disease patients (PDF) - 1

Regions of Homozygosity on a Single Chromosome: Insights into Complex Diagnosis Caused by Imprinting Disorders, Recessive Disease, and Chromosomal Aberrations (PDF) - 1

Mucopolysaccharidosis Type VII (MPS VII): A locus-specific database of GUSB gene variants, genotypes and phenotypes (PDF) - 1

The power of multi-omics in confirming the pathogenicity of a DDX11 variant causing Warsaw syndrome (PDF) - 1

The power of multi-omics in confirming the pathogenicity of a DDX11 variant causing Warsaw syndrome (Audio) - 1

Follow-up of Suspected Constitutional Chromosome Abnormalities Identified in Cancer Cytogenetic Testing (PDF) - 1

Functional analysis of two JAG1 missense variants in Alagille syndrome (PDF) - 1

Expanding the diagnostic toolkit using long-read RNA-sequencing (Audio) - 1

Expanding the diagnostic toolkit using long-read RNA-sequencing (PDF) - 1

Clinical Exome Sequencing Towards Molecular Diagnosis: Insights and Outcomes from 822 Pediatric Cases (PDF) - 1

Provenance/Identity Testing in Genome Sequencing: A Single Institution's Experience (PDF) - 1

Extracting HMW DNA from saliva for HiFi sequencing applications (PDF) - 1

Identification of rare genetic variants in keratoconus families via exome sequencing (PDF) - 1

Genetic basis of dysferlinopathy, a comprehensive analysis of sequence and copy number variants from a large cohort of 686 patients (PDF) - 1

Clinical significance of mRNA nonstop decay in rare disease diagnosis (PDF) - 1

Identification of pathogenic expansions within FXN in individuals with suspected Friedreich Ataxia diagnoses (PDF) - 1

Improved algorithms for optical genome mapping workflows in constitutional disease and oncology applications (PDF) - 1

Implementing a prenatal-specific reference markedly improves call quality and reduces repeat testing for clinical CMA (PDF) - 1

Machine Learning-Guided GWAS in the Taiwan Biobank Reveals Novel Height-Associated Genes with Possible Epistatic Interactions (PDF) - 1

An Assessment of a Novel Capillary Blood Collection System for Research Sample Collection in Adults (PDF) - 1

Impact of Leveraging Deep Neural Networks for Automated Metaphase Finding (PDF) - 1

Use of Polygenic Risk Scores to Assess the Contribution of Common Genetic Variation in Primary Immunodeficiency Disorders (PDF) - 1

Impact of Gene-Disease Relationship Curation on Patient Diagnostics and Panel Design (PDF) - 1

Recurrent 2q11.2 deletions and duplications: A look at segregation, clinical presentation, and additional genetic testing (PDF) - 1

Clinician Survey on VUS Reporting in Panel Genetic Testing (PDF) - 1

What are you missing? A review of the utility of characterization studies as part of chromosomal microarray analysis (PDF) - 1

Cytomictical chimerism in a phenotypically normal 46,XY woman (PDF) - 1

Congenital Heart Disease-associated Coding and Non-Coding Mutations alter TBX5-DNA Binding Affinity (PDF) - 1

The collection and use of patient sex, gender, race, ethnicity, and ancestry data among US-based clinical genomics laboratories (PDF) - 1

The role of PACS2 and pacs2 in ocular development (PDF) - 1

BS1/BA1 thresholds derived from disease-specific genetic architectures result in decreased rates of VUS in clinically relevant genes (PDF) - 1

Diagnostic Yield of Autism Spectrum Disorder Patients from Hong Kong Using Genome Sequencing with Extensive Comorbidity Characterizations (PDF) - 1

Sequencing of a KLK15 gene variant in a large cohort of hypermobile Ehlers- Danlos syndrome patients (PDF) - 1

Variant Interpretation of High-Penetrance Breast Cancer Genes in Underrepresented Populations: A Review of ACMG Guideline Adherence and Hypothetical Data (PDF) - 1

The Impact of Gene-Specific Guidelines on Variant Reassessment: Perspectives from a Hereditary Cancer Clinic (PDF) - 1

Uncovering Disease-Associated SVA Insertions Missed by Routine Clinical Testing (PDF) - 1

Validation and Implementation of Emedgene Variant Interpretation and Reporting Software for Clinical Genomic Testing (PDF) - 1

Whole genome sequencing of 55 exome negative trios identifies putative rare pathogenic noncoding variants in infants with congenital anomalies (PDF) - 1

'Double-hit' RUNX1 Involving a Novel t(6;21)(q25;q22) Chromosome Translocation with RUNX1::ARID1B Gene Rearrangement and RUNX1 p.Trp279* truncation in Acute Myeloid Leukemia. (PDF) - 1

Empowering Geneticists to Do Genomic Reanalysis Routinely (PDF) - 1

The utility of runs of homozygosity in the identification of pathogenic variants in individuals with rare diseases (PDF) - 1

Uncovering myocardial infarction genetic signatures using GWAS exploration in Saudi and European cohorts (PDF) - 1

Genetic Characterization of PYCR1-Associated De Barsy Syndrome in a Pakistani Family Through Whole Exome Trio Sequencing (PDF) - 1

Newborn with Kagami-Ogata syndrome and upd(14)pat characterized by trio SNP array, Mendelian Inheritance Error and genotyping analyses (PDF) - 1

A Tale of Two Sides: a Rare Pediatric Neuro-Oncology Case (PDF) - 1

A Novel Truncating Variant in PRDM16 Causes Severe Familial Cardiomyopathy with Variable Clinical Presentations (PDF) - 1

Chromosome Breakage Analysis (CBA) is a Powerful Functional Assay for Classification of Novel Variants in Fanconi Anemia Genes. (PDF) - 1

KMT2A Amplification in Two Adult Patients with B-Cell Acute Lymphoblastic Leukemia (PDF) - 1

Classification of c.293-7C>G in the CYP21A2 gene: Contributor to Congenital Adrenal Hyperplasia or Simply a Passenger Variant? (PDF) - 1

Genome sequencing detects Transposable Element (TE) insertions in two diagnostic challenging cases (PDF) - 1

SRY Positive 46,XX: A Unique Family with Fertile Female Mother and Male Children Challenging the Dogma of Sex Determination (PDF) - 1

Uniparental Isodisomy of Chromosome 8 in a One-Year-Old Boy: A Rare Case Report (PDF) - 1

Discrepant Genetic Laboratory Results in the Prenatal Setting: A Case Study (PDF) - 1

A Complex Structural Rearrangement Resulting in Recurrent SCN1A Deletion Identified by Optical Genome Mapping (PDF) - 1

Identification of a Novel Variant in the MAD1L1 Gene in an Individual with Mosaic Variegated Aneuploidy Syndrome (PDF) - 1

Novel De Novo KAT6A Variant in a Pediatric Patient with Multisystem Involvement (PDF) - 1

Premature termination codon variants in CHD1 and SF3B2 in a complex pedigree with phenotypic variability (PDF) - 1

Copy number gains in RBFOX1: rare population variants or incompletely penetrant CNVs? Case reports and review of the literature. (PDF) - 1

Unbalanced three-way translocation identified in a patient with developmental delay using chromosomal microarray analysis and karyotyping (PDF) - 1

Unveiling a Dual Diagnosis: The Role of Exome Reanalysis in Evolving Pediatric Phenotypes (PDF) - 1

Identification of a balanced rearrangement of 22q11.2 in a family with a history 22q11.2 microduplication and microdeletion syndromes (PDF) - 1

Conflicting Genotype-Phenotype Data on ITSN1 as a Candidate Gene for Neurodevelopmental Disorders (PDF) - 1

Segregation of a nonsense variant in TP63 in a five-generation family with non-syndromic cleft lip and palate. (PDF) - 1

Challenges in Microarray Analysis and Interpretation of Incidental Findings on the X Chromosome (PDF) - 1

Detection of mosaic Prader-Willi syndrome in a buccal sample by CMA and WES (PDF) - 1

Vanishing copy number gains: causative chromosomal changes or unstable findings of unknown consequence? (PDF) - 1

Using the single-cell transcriptome to facilitate molecular diagnosis of retinal dystrophy -- a case report (PDF) - 1

Methylation Analysis and Karyotyping as Follow-up Tests for Females with FMR1 Premutation and Full Mutation (PDF) - 1

Low-level somatic convoluted indel variants in C-terminal region of TEK revealed by deep sequencing on patients with vascular malformations (PDF) - 1

Utilizing MyCode and population-based genomics screening to detect genetic variants for cardiovascular disease in women of reproductive age (PDF) - 1

Has the era of precise intrauterine treatment for congenital adrenal hyperplasia arrived? (PDF) - 1

Verification of a Software and Amplification-Based Nanopore Sequencing Solution to Characterize Complex Variants in 11 Challenging, High-Frequency Carrier Genes (Audio) - 1

Verification of a Software and Amplification-Based Nanopore Sequencing Solution to Characterize Complex Variants in 11 Challenging, High-Frequency Carrier Genes (PDF) - 1

Advancing precision care in pregnancy through a treatable fetal findings list (PDF) - 1

Advancing precision care in pregnancy through a treatable fetal findings list (Audio) - 1

Application value of noninvasive prenatal diagnosis of recessive monogenic genetic diseases based on relative haplotype dosage changes (PDF) - 1

Investigating the use of SpliceAI in Variant Reanalysis of a Cohort of Fetuses with Congenital Brain Abnormalities (PDF) - 1

Expanded Carrier Screening Detects Early Actionable Metabolic Conditions (PDF) - 1

Prenatal chromosomal microarray classification and reporting among screen positive cases in California (PDF) - 1

EXAMINATION OF PRENATAL CASES REFERRED FOR UNIPARENTAL DISOMY 16: REFERRAL PATTERNS, POSITIVE ASSOCIATONS AND KEY FINDINGS (PDF) - 1

Rate of prenatal diagnostic testing among women with genetic conditions (PDF) - 1

Noninvasive prenatal diagnosis of facioscapulohumeral muscular dystrophy using SNP-based amplicon sequencing (PDF) - 1

'Let me figure out how to help you:' Perspectives on preparing to parent a child with a genetic condition (PDF) - 1

Single-cell sequencing of circulating trophoblasts for non-invasive fetal pathogenic copy number variant screening: first large-scale clinical validation study results (PDF) - 1

Atypical Sex Chromosome Findings on Prenatal Cell-free DNA Screenings (PDF) - 1

Evaluation of prenatal cfDNA screening for trisomies 13, 18, and 21 in California, 2022-2024 (PDF) - 1

Factors Associated with Prenatal versus Postnatal Genetic Diagnostic Testing (PDF) - 1

Genetic Etiologies of Bilateral Renal Agenesis (PDF) - 1

Use of Aspirin Prophylaxis in Pregnant Patients with Genetic Conditions (PDF) - 1

The use of postpartum long-acting reversible contraceptives among women with genetic conditions (PDF) - 1

Circulating Cell-Free DNA in the Diagnosis of Hydatidiform Mole and Digynic Nonmolar Triploidy (PDF) - 1

Genetics of Fetal Micrognathia: One Fetal Center's Experience (PDF) - 1

Use of cell-free DNA for prenatal diagnosis of single gene disorders: experience of a single tertiary care center (PDF) - 1

Paternal expanded carrier screening after positive maternal results: perceptions and barriers to screening (PDF) - 1

Development of a Predefined Gene List for Childhood Onset Secondary Findings via Fetal Exome Sequencing (PDF) - 1

Expanded chromosomal microarray comprising screening for spinal muscular atrophy and monogenic diseases in prenatal diagnosis (PDF) - 1

Expanded chromosomal microarray comprising screening for spinal muscular atrophy and monogenic diseases in prenatal diagnosis (PDF) - 2

Expanding the Prenatal Phenotype of MYRF-Related Cardiac-Urogenital Syndrome (PDF) - 1

Noninvasive Detection of Twin Zygosity Using Genome-wide Linkage Disequilibrium Information (PDF) - 1

Who Are We Missing: Examining Health Insurance Coverage for Expanded Carrier Screening (PDF) - 1

Parental Emotional Experiences and Coping Strategies During Prenatal Sex Chromosome Aneuploidy Diagnosis (PDF) - 1

Persistent clenched hands with or without adducted thumbs, a fetal ultrasound finding in neuronopathic Gaucher disease (PDF) - 1

A Laboratory Assessment: Diagnostic Yield of Next Generation Sequencing and Prenatal Clinical Indications (PDF) - 1

Practical implementation of ACOG and ACMG carrier screening guidelines at a single academic medical center (PDF) - 1

Defining and measuring the value of genetic testing: Developing the Patient-reported Genetic testing Utility InDEx (P-GUIDE) for prenatal care (PDF) - 1

Predictive Outcomes of Fetal Micrognathia: One Fetal Center's Experience (PDF) - 1

Impact of Prenatal Trio-Exome Sequencing on Future Reproductive Decisions: A Qualitative Study (PDF) - 1

Integrating Next-Generation Sequencing with Deep Phenotyping: Enhancing Prenatal Diagnostic Precision and Unveiling the Comprehensive Phenotypic Spectrum of Skeletal Disorders (PDF) - 1

The significant contribution of maternal effect genes for recurrent pregnancy loss: Preliminary results from the pedigree analysis (PDF) - 1

Development of a prenatal genetics program at the southeast of Mexico (PDF) - 1

Prenatally diagnosed 45,X/46,XY mosaicism with a male phenotype (PDF) - 1

Lethal hypophosphatasia associated with recurrent pregnancy loss: From carrier screening to preimplantation genetic testing. A case report. (PDF) - 1

A maternal and fetal diagnosis of or susceptibility to autosomal dominant COL1A2-related disorders ascertained by prenatal cell-free DNA screening (PDF) - 1

Expanding the fetal phenotype of USP7-related conditions (PDF) - 1

Seeking Answers, Getting Questions: Genome-wide Prenatal Cell-free DNA Screening in a Case of Multiple Congenital Anomalies (PDF) - 1

Seeking Answers, Getting Questions: Genome-wide Prenatal Cell-free DNA Screening in a Case of Multiple Congenital Anomalies (Audio) - 1

Meiotic Recombination on Display Through Preimplantation Genetic Testing for Two X-Linked Disorders (PDF) - 1

Consideration of intravenous immunoglobulin to prenatally mitigate the development of chondrodysplasia punctata in children born to mothers with autoimmune disease (PDF) - 1

Prenatal Diagnosis of Snijders-Blok Campeau Syndrome in a Fetus with Dandy Walker Malformation (PDF) - 1

Prenatal whole genome sequencing to diagnosis rare presentations of hydrops fetalis (PDF) - 1

Prenatal diagnosis of Pretzel Syndrome: A case report (PDF) - 1

Case report: Incidental Diagnosis of Mulchandani-Bhoj-Conlin Syndrome by Prenatal Microarray (PDF) - 1

A fetal diagnosis of LRP2-related Donnai-Barrow syndrome through prenatal genome sequencing (PDF) - 1

Counseling and management of a maternal diagnosis of mosaic trisomy 8 ascertained through prenatal cell-free DNA screening (PDF) - 1

Prenatal Ultrasound Diagnosis of Complex Cardiac Defects and Heterotaxy Syndrome Associated with DNAH9 Gene Pathogenic Variant (PDF) - 1

Multiple Deletions In Chromosome 13 Mediated By Chromothripsis: A Case Report (PDF) - 1

A Fetus with Diamond-Blackfan Anemia and HLHS: Expanding the Cardiac Phenotype (PDF) - 1

Prenatally Diagnosed Beare-Stevenson Cutis Gyrata Syndrome with a Novel Variant (PDF) - 1

A Rare Case of Prenatal G6PD Presenting with Hydrops and in Utero Demise (PDF) - 1

Discordant Cell-Free DNA Screening and Ultrasound Results Aid Prenatal Diagnosis of Androgen Insensitivity Syndrome (PDF) - 1

Additional haplotype in NIPD for Spinal muscular atrophy: triploid of a twin gestation (PDF) - 1

Challenges of genetic counseling in prenatal setting: follow up of a child born after conspicuous result for Pallister Killian Syndrome (PDF) - 1

Maternal Mosaicism for TRPV4 p.R269H and Siblings with Variable Phenotypes, Including Prenatal Ultrasound Findings Associated with Lethality (PDF) - 1

Importance of expanded prenatal carrier screening in infertile patients (PDF) - 1

Importance of expanded prenatal carrier screening in infertile patients (Audio) - 1

A Cautionary Tale of Fetoplacental Discrepancies: The Impact of Mosaicism in Prenatal Diagnosis (PDF) - 1

Prenatal Findings of Mevalonate Kinase Deficiency in an MVK I268T Homozygous Fetus (PDF) - 1

Expanding the Prenatal and Postnatal Phenotype of 1q21.1 Duplication: A Case Report (PDF) - 1

Preimplantation genetic diagnosis as a strategy to prevent having a child born with Norrie disease (PDF) - 1

Variability of Phenotypic and Prenatal Ultrasound Findings of Muenke Syndrome: a Case Report (PDF) - 1

Novel fetal phenotype for 'FRYL-related neurodevelopmental disorder with multiple anomalies (PDF) - 1

Diagnosis of Sheldon-Hall Syndrome on Products of Conception through Genome Sequencing (PDF) - 1

Rare Clinical Gene Variants of TUBA1A: Tubulinopathy-Related Brain Malformation Spectrum Disorder (PDF) - 1

Prenatal diagnosis of a rare immunodeficiency prompted by increased nuchal translucency (PDF) - 1

Distinct Prenatal Diagnostic Pathways to Uniparental Disomy: Insights from Two Cases (PDF) - 1

Consideration For Epigenetic Associations in Pentalogy of Cantrell (PDF) - 1

Genome sequencing to diagnose possible arthrogryposis syndrome presenting with maternal pyelonephritis and polyhydramnios (PDF) - 1

Pierson Syndrome: a fetal homozygous pathogenic variant within the LAMB2 gene (PDF) - 1

Findings Before and After Duplication and Deletion (PDF) - 1

A First In Human, Single Arm, Open Label Phase 1/2 Study Evaluating ECUR-506 in Neonatal OTC Deficiency: Initial Observations

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