OasisLMS

Clinical Efficacy and Safety Data in Adolescents Treated with Repinatrabit for Phenylketonuria

Prevalence and Tumor Characteristics of Patients with TMEM127 Pathogenic Variants in a Large, Pan-Cancer Cohort

Deciphering DHX9 gene pathogenicity in neurological disorders with distinct phenotypes

Demystifying Base Large Language Model - Reproducibility and Accuracy in ACMG/AMP Variant Classification

Genomic and Clinical Correlation of G6PD Deficiency Identified by the GUARDIAN Expanded Genomic Newborn Screening Study

High Diagnostic Yield, Unequal Access, and Emerging Guidelines in Adult Genetics: Results and Insights from an 8-year, 7,000-Patient Analysis

VUS Is Not a Four-Letter Word: A Better Understanding of Copy-Number Variants of Unknown Significance From Examining a Large Dataset

Reproductive Carrier Screening for Metabolic Conditions with Heterozygous Manifestations

Survival, Clinical, and Biomarker Data Support the Efficacy of Intrathecal Adrabetadex in Niemann-Pick Disease Type C

Comprehensive Pan-Cancer Assessment of the APC I1307K Variant Reveals Ancestry-Independent Colorectal Cancer Risk

Long-term Efficacy and Safety of DTX401, an AAV8-mediated, Liver-directed Gene Therapy, for the Treatment of GSDIa: Phase 1/2 End-of-Study Results

Patient-Centered, Multidisciplinary, Centralized, Longitudinal Clinical and Genomic Follow-up: Development and Evaluation in the Undiagnosed Diseases Network (UDN)

Challenging Paradigms to Advance Rare Disease Screening and Early Diagnosis: Development of a Targeted Metabolomics Panel to Expand Newborn Screening

Pharmacogenomics Standardization to Promote Global Uptake

Diagnostic Yield of Rapid Genome Sequencing in Critically Ill Infants with Cardiac Indications

Genomic and Functional Dissection of Fetal Brain Abnormalities

Mitochondrial Function in Fibroblasts from a Patient with Congenital NAD Deficiency due to Biallelic NADSYN1 Variants

Prevalence of Cancer Predisposition Variants in a Pediatric Pineoblastoma Cohort

Benchmarking Comprehensive Variant Detection in Challenging Genomic Regions Using Constellation Mapped Read Technology

Genome x Environment analysis of Sudden Unexpected Infant Death Unveils Etiologic Heterogeneity and Strong Cannabis and Genetic Disease Risks

Utilization and Impact of Exome and Genome Sequencing by Non-Genetics Providers

Characterization of Caregiver QoL, Primary Concerns, and Challenges in Chopra-Amiel-Gordon Syndrome

Integration of Clinical Pharmacy Services in an Inborn Errors of Metabolism Clinic

Availability of PGT-P in a Single IVF Cycle: Prevalence of Euploid Embryos in Over 64,000 IVF Cycles

Growth Outcomes and Safety of Navepegritide in Children with Achondroplasia: Results of the ApproaCH Trial Open Label Extension

Improving Detection of Variant MECOM Rearrangements Through Optical Genome Mapping and Repurposed Targeted RNA-Seq

A Rapid, Novel Approach to Rare Disease and Clinical Genetic Variant Discovery using On-flowcell Proximity Sequencing and Haplotype-resolved Variant Calling

The E3 Genomics Pathways Program: Building a Sustainable Workforce in Medical Genetics and Genomics

Insights from Screening Newborns by Genome Sequencing

Newborn Screening for Metachromatic Leukodystrophy: A Combined Method of Analysis

A framework for reporting genomic newborn screening results: Illustrative cases from ten international genomic newborn screening programs

Identification of Suspected Bone Marrow Transplantation in Prenatal Cell-free DNA Screening Using SNP-Based Profiling

Defining the Genotype-CRIM Status Relationship in a Large Cohort of 215 Patients with Infantile-onset Pompe Disease

Cancer Phenotypes of Hypomorphic versus Non-Functional TP53 Variants in Li-Fraumeni Syndrome

A Novel Clinical-Translational Model of Leukoencephalopathy with Calcifications and Cysts Recapitulates the Human Phenotype

WAFL: A Comprehensive, Multi-omic Computational Workflow for Rare Disease Diagnostics Using Long Read Sequencing

Advancing Genetics and Genomics Education: The Role and Impact of the Association of Professors of Human and Medical Genetics (APHMG)

Tomorrow’s Risk Today: Assessing Adult-Onset Cancer Risks in a Pediatric Population

Changing Germline Testing Delivery for Veterans Affairs Cancer Patients: A National Quality Improvement Initiative to Improve Precision Oncology Practice

Genome-Wide cfDNA-Based Non-Invasive Prenatal Screening for Monogenic, Chromosomal and Sub-Chromosomal Disorders

Multi-Omic Evaluation of Glycosylation Restoration Therapy in SLC35A2-CDG

Expanded Germline Cancer Predisposition Testing Increases Diagnostic Yield Across Cancer Types

Network for Advancing Sex Chromosome Aneuploidy Research Readiness (NASCARR): A New Consortia of the Rare Disease Clinical Research Network (RDCRN)

Fractional Clues: Decoding NF1 Variant Pathogenicity Through Low Variant Allele Fraction

The Journey From Podium to Paper: Examining Publication Rates of High Quality Genetics and Genomics Research

Reduction in Healthcare Resource Utilization for Children with Neurodevelopmental Disorders After Exome or Genome Sequencing: A SAVES-Kids Study

Augmented hereditary cancer risk assessment combining E-visit outreach with genetic counseling

Virality Versus Veracity: A Systematic Review of TikTok Information on Prenatal Aneuploidy Testing

Inhibiting Wnt/β-catenin-mTOR Signaling Enhances Porphyrin Clearance in Porphyrias with Hepatic Involvement

STELLAR-AIM: State-Of-The-Art Genetic Differential Diagnosis by AI using Knowledge Extraction from Literature, and Metabolomic, Genomic, and Phenotypic Data

The Co-occurring Cytogenetic Landscape in Pediatric t(12;21)(p13;q22)/ETV6::RUNX1 Positive Acute Lymphoblastic Leukemia

RTK-RAS Pathway Alterations Define Relapse Biology in Acute Myeloid Leukemia: A Multi-Omics Perspective

Advancing Genetic Counseling Education and Professional Recognition in the Nordic Region: Development of a Joint Nordic Master’s Program

Psychometric Validation of the Education and Assessment of Genetic Literacy (EAGL) Measure

Cell-Free DNA Testing for Early Detection of Malignant Peripheral Nerve Sheath Tumors among Adults with Neurofibromatosis Type1: A Delphi Study

Trends in genetic testing for consanguineous couples: a single center cohort study

Re-evaluation of Genotype-Phenotype Correlations in D-Bifunctional Protein Deficiency in a Phenotypically Diverse Cohort of 27 Natural History Study Participants

Treatment for AD Disorders: Amplifying Protein Expression with Gene-specific Antisense Oligonucleotides Targeting a Common 3'UTR Motif

Long-read Sequencing Enables Accurate Detection and Discovery of Pharmacogenomic Haplotypes

Incidence and Phenotypic Spectrum of SDHA Pathogenic Variants Identified in an Unselected Precision Medicine Cohort

Experience of philanthropic support to create continuing education modules for genetic counselors

The Lived Body in Genomic Medicine: Mixed-Methods Pilot Study of Existential Themes in Families of Patients with Genetic Conditions

MaveMD: A functional data resource for genomic medicine

Evaluating Concordance Between Fetal Diagnostic Testing and sgNIPT for Recessive Genetic Disorders

Sepiapterin Responsiveness Over 14 Days in Children and Adults with Phenylketonuria: Pooled Results from Three Phase 3 Clinical Trials

From Uncertain to Actionable: Significant Reduction in Variants of Uncertain Significance in Hereditary Germline Testing via Multi-Institutional Real-World Evidence

Two Years of Clinical Long Read Sequencing: Yes we can Phase that – and Yes, it is Reimbursable.

Three-year use of risk-reducing interventions among cancer-free women with germline pathogenic variants in breast cancer predisposition genes

Integrating Genetics into All Medicine and Healthcare through Interprofessional Education

Newborn Genome Screening Pilot Study in South Korea: Comparison with Commercial Newborn Genetic Testing

Tandem Referral Model Improves Genetic Counseling Access and Efficiency in a Kidney Genetics Clinic

Clinical Implementation of the PrenatalDetect RhD test in routine obstetric care

Evaluating the Role of Mitochondrial Dysfunction in Muscle Cell Differentiation in an iPSC-derived Skeletal Muscle Model of Barth Syndrome

Diagnostic Yield and Clinical Utility of Rapid Genome Sequencing in an Unrestricted NICU Cohort

Molecular Insights and Cautionary Tale of Duplications in Duchenne and Becker Muscular Dystrophy Across a Large Cohort

Comprehensive Somatic Mutational Profiling of Triple-Negative Breast Cancer Reveals Clinically Actionable Genetic Alterations

Bridging the Knowledge Gap: Implementation and Early Performance of “Gene”, an AI-Powered Assistant Curated for the Angelman Syndrome Community

Relationship of Child’s Age at Screening on Parental Perspectives on Genetic Screening/Testing

Leveraging ACMG International Outreach: A Laboratory-led, Community-Engaged Framework for Familial Hypercholesterolemia Genetic Service Implementation in a Middle-Income Country

From Reproductive Testing to Broader Clinical Relevance: The Evolving Implications of Expanded Carrier Screening

Hidden Genetic Risk: Unanticipated Indications for Testing in an Adult Genomic Health Clinic

High-Throughput Functional Characterization of Splicing Variants in Inherited Retinal Degenerations Using a Multiplexed Assay Platform

Lower Extremity Alignment Improvements Correlate with Physical Functioning in Children with Achondroplasia Treated with Navepegritide: 52-Week ApproaCH Trial Results

Low-Cost Self-Pay Testing and Patient Motivation Facilitate Genetic Testing of Unaffected Individuals at Risk for Hereditary Breast and Ovarian Cancer

GraTeFUl Project: Genetic Testing Follow Up Quality Project

Results of assessment of babies with Long QT syndrome identified by the GUARDIAN expanded newborn screening study

Meeting the Genetic Counseling Demand for Genomic Newborn Screening Results: A Nationwide Telehealth Service Delivery Analysis

Reproductive Potential of Mosaic Embryo Transfers: A Systematic Review and Meta-Analysis

Results From a Phase 1/2 Open-label Trial of GTX-102, an Investigational Antisense Oligonucleotide for Treatment of Patients With Angelman Syndrome

Enhanced Genomic and Prognostic Understanding of Thoracic Aortic Aneurysms/Dissections (TAAD): A Study of 1,340 Early-Onset Patients with Extended Follow-Up

Exploring the role of cardiolipin metabolism in the brain through the lens of Barth Syndrome and Cardiolipin synthase deficiency

Multilocus Hereditary Cancer: A Case Series of Patients with Pathogenic Variants in Three Distinct Genes

Building a Natural History and Patient Registry Platform for Coffin‑Lowry Syndrome (CLS): A Roadmap for Therapeutic Readiness

The Role of Academic Medical Centers in Personalized Experimental Therapeutic Development: Key Considerations

Rapid, Precise, Life-Changing: Seven Years of Rapid Exome and Long-Read Genome Sequencing in 157 Critically Ill Children in Thailand

High Throughput Targeted Long-Read Sequencing Resolves Homology-Driven Mutation in Genes Relevant to Carrier Screening Research

GATAD2B-Associated Neurodevelopmental Disorder (GAND): Clinical Insights and Investigations with Animal and Human Cellular Models of NuRDopathies

The AnVIL Clinical Resource: Empowering Investigators on NHGRI’s Cloud Infrastructure

Building on Twenty Years of Guideline Expertise: Developing Comprehensive Nutrition Management Guidelines for Urea Cycle Disorders

The RUNX1-Familal Platelet Disorder Natural History Study: A pilot in understanding hereditary predispositions to hematologic malignancy

Impact of a research resource: A 5-year review of peer-reviewed publications utilizing samples from the NIGMS Human Genetic Cell Repository

Healthcare Provider Perspectives on Offering Cell Free DNA Screening for Aneuploidy after Dobbs vs. Jackson Women’s Health Organization

From DNA-based Population Screening to Personalised and Preventative Actions – A pilot study

CGG Repeat Length and AGG Interruptions in FMR1: Association with Expansion Risk in a Reproductive Carrier Screening Population

Rare Pathogenic, Polygenic, and Structural Variant Analysis in Sarcomere-negative HCM Patients of African and European Genetic Ancestry from Health Systems

Increased Diagnostic Yield with Optical Genome Mapping in Pediatric Rare Disease Setting: 1-year Clinical Experience at the Greenwood Genetic Center

Expanding the Clinical and Functional Spectrum of NUS1-CDG: Insights from Systematic Phenotyping Using NPCRS and ICARS

Uptake and clinical actionability of a genome first cancer and cardiometabolic risk stratification population health pilot in the workplace

Identifying Novel Disease-Associated Genes Encoding Centrosome Proteins by Using Machine Learning Approach

Exploring Autonomy and Patient Satisfaction in Healthcare: Perspectives from Adults with Down Syndrome

Genetic Testing Increased in the Veterans Health Administration from 2020 to 2025 After Deployment of Implementation Strategies Promoting Mainstreaming

Clinical features indicative of positive genetic test outcome in a series of prenatal cases of Beckwith-Wiedemann Syndrome

BeginNGS: Updates on Advancing Newborn Screening by Genome Sequencing Trial with Federated Learning Models.

Combined Donor and Immune Cell-free DNA Signatures to Enhance Accurate Detection of Cardiac Allograft Rejection

Myelin Lipid Composition in Adrenoleukodystrophy

GeMSort: Algorithm for Identifying Germline Pathogenic Variants in Liquid Genomic Profiling – Insights from C-CAT Database

Universal erroneous variant naming errors in Genetics in Medicine submissions emphasise the critical need for technical reviewing in genomics publications

Reduction in Healthcare Costs for Children with Epilepsy Following Exome or Genome Sequencing: a SAVES-Kids Study

UCLA Health’s Initial Experience in Implementing the Epic Genomics Module

Contribution of Neuromuscular Disorders to Nonimmune Hydrops Fetalis Diagnosed by Exome Sequencing: A Meta-Analysis and Systematic Literature Review

An LDL-C Polygenic Risk Score Enables Early Identification of Individuals at High Risk for Hypercholesterolemia Who May Otherwise Be Missed

A Semi-quantitative Framework Curating Mechanism of Pathogenicity in Monogenic Conditions: A Consensus Effort of the Gene Curation Coalition

A Multi-Center Retrospective Chart Analysis Identifying Clinical, Biochemical, and Radiographic Signatures of Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency

Cell-Free Testing Reliably Detects DPYD and UGT1A1 PGx Alterations, Improving Chemotherapy Dosing and Clinical Yield

Variant Scientist Network: A Collaborative Initiative to Strengthen Education and Professional Support

Balancing Relationships and Responsibility: Expanding the Analysis and Return of Secondary Findings Through a Relational Perspective

Translating Cardiogenetic Insights into Culturally Sensitive, Community-Based Services: Establishing the Family Heart Center for the Amish Population

A Deep Intronic Pentanucleotide AAAAT Repeat Expansion in KATNA1 as a Novel Cause of Recurrent Triploidy of Maternal Origin

A Single Center Review of Survival and Clinical Phenotype Among Children with Trisomy 18 and 13

Improving Variant Classification for Genomic Medicine Through Evidence Calibration

Decreasing False Positive Newborn Screens for Disorders of Homocysteine Metabolism Using CLIR Tools and Second Tier Testing

Integrating Tumor-Normal Testing to Clarify the Significance of Adult-Onset Cancer Predisposition Genes in Pediatric Cancer Patients

Poor oral health significantly increases the likelihood of heart disease: Evidence from Mendelian randomization using genomic structural equation modeling

Minding the Gaps: Integrating Family History, Genomic Medicine, and Public Health in Pipeline Training and Community Engagement since 2017

Gene List Development for the BEACONS study: The First U.S. Multi-State Genomic Newborn Screening Initiative

Outcomes of X-Linked Carrier Detection via Pan-Ethnic Carrier Screening: Clinical Impact Across Pregnancy, Familial Testing, and Variant Interpretation

Challenges of RNA Sequencing Data Interpretation for the Reclassification of Genomic Variants of Uncertain Significance

Comprehensive Reanalysis Increases the Diagnostic Yield of Rapid Genome Sequencing in Infantile Epilepsy

At-Home/Point-of-Care Urine Test for Blood Phe Monitoring for PKU

Detection of leukemia-associated structural variants using electronic genome (EGM) mapping

The INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndrome) Collaboration for Down Syndrome Progress (CDP)

Can the Diagnostic Evaluation Change Patient Perspectives of their Illness--Irrespective of the Outcome?

Parents’ Perceptions of Receiving a Genetic Diagnosis and Navigating Follow-through Care for their Infant: Findings from the GenePAL Study

DNA and Decisions: The Interface Between Genetic Testing and Termination for Congenital Anomalies

Optical Genome Mapping for Cytogenetic Analysis in Multiple Myeloma: Real-world Evidence

Low Diagnostic Yield of Genetic Testing in Suspected Metabolic Myopathies Without Biochemical Evidence

Delivery of Monogenic and Polygenic Results to Inform Cancer Screening: The Prostate Cancer, Genetic Risk and Equitable Screening Study (ProGRESS)

Applying Down Syndrome Surveillance Guidelines in Pediatric Primary Care: An Evaluation of Pediatric Resident Knowledge and Self-Efficacy

“It’s a Minefield” - Ethical Considerations Emerging from a Large Craniofacial Genetics Rare Disease Initiative

G6PD Deficiency: A 'Hidden' Diagnosis Beyond Pharmacogenomics

The Other Half of the Story: High Rates of Unique Parental Secondary Findings

Frequency of Females With Two Phenylalanine Hydroxylase Gene Variants and a Potential Mild Phenotype in a Reproductive Carrier Screening Population

At-home ammonia breath test for monitoring patients with a Urea Cycle Disorder

Feasibility and Outcomes of a Genetic Screening Telephone Survey in an Urban Breast Cancer Survivorship Program: A Mixed-Methods Study

Genetic Etiology of PRRT2-Negative Paroxysmal Kinesigenic Dyskinesia (PKD)

Genetics And Genomics Training in Reproductive Endocrinology and Infertility (REI) Fellowships

Hope, Burden, and Communication: Parental Perspectives on Pursuing Serial Amnioinfusions for Early Pregnancy Renal Anhydramnios

Genetic Testing Utilization Among Pediatric Heart Transplant Recipients: A Retrospective Case Series

HiFi Long-read WGS: Sequencing Performance of Buccal/Saliva Samples and Estimation of Non-human DNA Contamination from Unaligned HiFi Reads

A Comparison of the Performance of Reproductive Carrier Screening Based on the ACMG Tier 3 Panel versus Current ACOG Recommendations

Elamipretide—The First Approved Treatment for Barth Syndrome: Genetic Basis, Mechanistic Rationale, and Phase 4 Confirmatory Trial

Lifetime Risk for Renal Cancer Among Patients with Fumarate Hydratase Mutations: Time to Reassess HLRCC Risks and Screening Strategies?

Genotype-Phenotype Correlation of Ophthalmic, Renal/Genitourinary, Neurological and Neurodevelopmental Manifestations in Published Cases of Bardet-Biedl Syndrome

The Role of Data Repositories in Understanding Complex Disease: Lessons From NIAGADS

The Road to Licensure: Establishing Professional Licensure for Genetic Counselors in Iceland

Disclosing Medically Actionable Genomic Screening Results Identified in Deceased Biobank Participants is Feasible and Acceptable

DNA-Based Supplemental Newborn Screening Using Cord Blood in a Founder Population: Experience from 1,500 Infants with the Genetic Awareness Panel

Clinical utility of a maternal genetics clinic with over 200 patients

Newborn screening Phe/Tyr ratio is an early predictor of severity of PKU.

Antimicrobial Activity Characterization of a Novel Anticancer Peptide

Gene-Specific ACMG/AMP Variant Classification Rules for Ornithine Transcarbamylase, N-Acetylglutamate Synthase, and Carbamylphosphate Synthetase 1

Burden of Healthcare System Navigation on People and Families Living with Glycogen Storage Disease Type Ia and Their Care Team

The Relationship Between Care Recipient Social Behaviors and Caregiver Feelings of Guilt in a Rare Disease Context

Demographic and Geographic Considerations in Pediatric Genome Sequencing: A Diagnostic Laboratory Review

Predicting Pathogenicity in Fabry Disease: Longitudinal Analysis of GLA Variant Reclassification and Trajectories (2023–2025)

Actionable parental diagnoses from expanded carrier screening

Glutaric Acidemia Type 1 (GA-1) in Wisconsin Menominee Nation

Complementary Germline and Somatic Testing in Breast Cancer Care

An Atlas of Human Pathogenic Variants for Splice-Switching Oligonucleotide Therapy

A Project to Characterize Children with Trisomy 13 and 18 who Survived Infancy: Study Design and Stakeholder Input

Including the Excluded: Establishing a Culturally Sensitive Personal Utility Measure for Genetic Testing

Application of Pharmacogenomic Testing in Pediatric Kidney Transplant Patients

MIMI Ranker: An AI-Powered Tool for Pathogenic Variant Prioritization Tested on a Diverse Dataset of 16K Clinical Exomes and Genomes

An Alignment Initiative for Prenatal Interpretation of Low-Penetrance ClinGen Recurrent Copy Number Variants

Unique Perinatal Growth Phases of a Prader-Willi Syndrome Preclinical Model

Characterization of TMEM127-related Tumor Predisposition in a Hereditary Cancer Cohort

Expanding the Clinical and Molecular Spectrum of Pilarowski-Björnsson Syndrome Reveals Sex-Dependent Effects

Targeted Educational Interventions on Genetic Testing for Autism for Healthcare Providers and Addressing Rates of Genetic Testing

A Caregiver’s Perspective on Living with Ornithine Transcarbamylase Deficiency (OTCD)

Benefits and limitations of using a chatbot to collect and ascertain eligibility for germline cancer genetic testing.

Use of Pangenome reference improves variant calling in clinical genome sequencing

Parental Health Implications Identified Through Prenatal Sequencing for Fetal Anomalies

fNIRS detects brain hemodynamics in patients with Pyruvate dehydrogenase complex deficiency (PDCD)

Gain of 1q After Treatment for Myeloid Malignancy, a Case Series

Experimental FGFR3 saturation mutagenesis and big-data integration identify 20 novel pathogenic variants in hypochondroplasia

Mitochondrial Diseases represent 3% of all diagnosis in the Undiagnosed Diseases Program

Reclassification of a Cerebral Palsy Diagnosis: Adult Presentation of Angelman Syndrome due to Paternal Uniparental Disomy

Polygenic Risk for Hypercholesterolemia Elicits Comparable Clinical Engagement as Monogenic Familial Hypercholesterolemia Results: Findings from the eMERGE IV Study

How much should I sequence? A validated mathematical model for determining sequencing depth targets in clinical germline NGS testing.

Genetic Health Literacy in Prenatal Providers

Novel stem cell models of mitochondrial inorganic pyrophosphatase 2 (PPA2) deficiency reveal pathologies and targets for therapy

To Fibroblast or Not to Fibroblast: Outcomes and Clinical Features of Patients Pursuing Confirmatory Germline Testing Following TP53-Positive Results

Experiences With a Pro Bono Genetics and Neurology Clinic in an Under-Resourced Caribbean Island Nation

Precision Military Medicine: A Scoping Review of Human Genetics Research in the Military Health System

Insights from iHope: the impact of test selection and ordering clinician on diagnostic yield

Unmasking Biclonal FLT3-ITD: A Hidden Layer of Clonal Complexity in Routine Testing

Early Outcomes from pcfDNA Screening at 8-10 weeks Gestation for Samples with Additional Findings

Epigenome-wide DNA methylation profiling identifies distinct regulatory signatures of Type 2 Diabetes in the Bangladeshi population

Lynch syndrome testing in the endometrial cancer survivor community

Impact of Structural Biology Assessment on Variant Interpretation and Patient Outcomes Over Ten Years in a Clinical Diagnostic Laboratory

Diagnostic intervals for patients with Homocystinuria: Insights from a patient-reported data collection program

Patient Perspectives on Communication and Care After Genetic Variant Reclassification

A Glimpse into the Rare Disease Landscape of Barbados

Genome wide assessment using Cell Free DNA when fetal anomalies are present: what is the diagnostic yield?

Analysis of Mitochondrial-targeted Antioxidants Shows Improvement of Bioenergetics in Glutaric Acidemia Type 1 Patient Fibroblasts

Detection of germline low-level mosaic RB1 variant in a patient with unilateral retinoblastoma and implications

Composite rare variant burden is associated with greater neurobehavioral symptoms in individuals with autism

Experiences of Caregivers of Children with Pierre Robin Sequence: Informing the Development of a Patient-Focused Educational Resource

Assessing Alzheimer's Disease Risk Perception and Attitudes in Asymptomatic High-Risk Individuals Enrolled in a Multimodal Lifestyle Intervention Trial

Prevalence of pathogenic and likely pathogenic copy number variants in hereditary cancer risk genes

Performance Validation and Clinical Experience of a Comprehensive Prenatal cfDNA Screening for Aneuploidies, Microdeletions and Monogenic Conditions

Mitophagy as a developmental pathology in the cardiac phenotype of Barth Syndrome

Genomic ascertainment of PALB2-related cancer predisposition

The ACCEL observational study: Diagnostic features, medical history, and baseline characteristics of children with hypochondroplasia

Integrating Practicum-Based Learning into Program Development: Lessons from the Genome Health Analysis MS Program

Nontraditional Inpatient Genetic Counseling Model Increases Access to Genetic Counseling and Testing for Racial Minority Groups

Functional analysis of GNAI1 variants and their impact on cellular signaling in neurodevelopmental disorders

HLA-ARC: An HLA-Augmented Bayesian Polygenic Framework for Type 1 Diabetes Risk Prediction and Embryo-Level Risk Reduction Modeling

Baseline Characteristics and Medical History of Participants Enrolled in the MPS VII Disease Monitoring Program (DMP)

Loss of DDI2 Rewires Proteostasis Through CCN1-driven Compensatory Autophagy in Cancer

Diagnostic Utility of Validated Episignatures for Recurrent Constellations of Embryonic Malformations in Inpatient Settings: A Retrospective Cohort Analysis

Community Co-designed Workshops Build Confidence in the Use of Functional Evidence for Variant Classification.

Redefining Access and Interpretation in Genomic Medicine: A Hybrid Model With Systematic Variant Resolution

Copy number variants involving ACMG secondary finding genes identified by routine genome-wide testing in a clinical pediatric population

Disparities in Prenatal Genetic Testing by Insurance Status

Improving Access to Care: Enhancing Stability of Amino Acids Exposed to Heat and Humidity Using Pretreated Dried Blood Spot Cards

Universal Germline Testing of Breast Cancer as Standard of Care in a Diverse, Rural Community Oncology Practice: the UNITY trial

Precision Medicine Models for Rare and Undiagnosed Mendelian Disorders

Medical genetics awareness and education for adult internal medicine providers

Genetic Counseling Uptake and Reasons for Decline After Receipt of Positive CDCT1 Test Results in a Population Health Setting

Expanding Global Access to Clinical Genome Sequencing Through the iHope Genetic Health Program – The Canadian Experience

Sickle Cell Trait Increases Risk for Adverse Pregnancy Outcomes

Integrating Untargeted Metabolomics into Clinical Diagnostics of Inherited Metabolic Disorders

Genomic Alterations of Ph-like ALL: Summarizing genomic findings from over 100 cases of pediatric Ph-like acute lymphoblastic leukemia

Long-Term Safety and Efficacy of Pegunigalsidase Alfa in Patients with Fabry Disease: Results from the Phase 3 BRILLIANCE Extension Study

AI Hallucination Almost Becomes Genetic Counseling Nightmare -- When AI Fabricates Results for Patients Seeking a Genetic Diagnosis

Motivators and stress-related predictors of genetic testing in undiagnosed diseases: insights from patients and parents pre- and post-diagnosis

A Nanopore Sequencing Assay for Comprehensive Molecular Characterization of Hemoglobinopathy-Associated Variants

Patient Recall and Retention of Video Education on Aneuploidy Testing: Secondary Outcomes of an RCT

Using Genomic Databases to Estimate Rare Disease Prevalence: Application to Disorders of Propionyl-CoA Oxidation

Proteomics of Diffuse Intrinsic Pontine Glioma(DIPG) and induced pluripotent stem cell(iPSC) derived cerebral organoid co-culture: mechanistic insights on tumor microinvasion.

Long-term Exposure to Galactitol Leads to Progression of Symptoms in Patients with Classic Galactosemia

Multidisciplinary Team Patterns in Prader-Willi Syndrome (MDT-PWS): Analysis of Medical Geneticists and Specialists Outpatient Visits from a Single U.S. Payer

Expanding the Genotypic Spectrum for ReNU Syndrome: A Clinical Laboratory Experience

Uncovering incidental parental chromosomal abnormalities through preimplantation genetic testing for aneuploidy

A Pilot Phase 2 Study to Assess the Safety and Efficacy of Sirolimus in Pediatric Leigh Syndrome Patients: Interim Analysis

ASXL1 as a Potential Modifier of GATA2 Mutational Burden and Disease Severity

Noninvasive Markers of Central and Musculoskeletal Symptoms in Infantile- and Late-Onset Pompe Disease

Expanding Genetic Testing Access for At-Risk Individuals Through the Family History of Cancer Patient Portal Questionnaire

The Diagnostic Yield of Clinical Testing for Somatic Variation in Cortical Malformations and Epilepsy

Universal Carrier Screening: Disparities in Partner Testing

Impact of health-system specialty pharmacy utilization on sapropterin adherence in patients with phenylketonuria (PKU)

Combined loss of APC and Id3 in pancreatic acinar cells causes pleiotropic phenotypes in a genetically engineered murine model

A Sponsored Genetic Testing and Counseling Program for Sensorineural Hearing Loss Reduces Barriers to Genetic Testing

Patient Attitudes in the Context of Receiving Uncertain News

Lessons learned: Targeted RNA sequencing as a tool for resolving variants of uncertain significance

Fetal Chimerism Identified Following SNP-Based Prenatal Cell-free DNA Screening

Neurobehavioral Profiles in Primary Mitochondrial Disorders – Overview of Select Cases from A Single Center Multi-Disciplinary Mitochondrial Disorders Program

Impact of UGT1A1 Variants on Treatment Related Adverse Events in Patients with Metastatic Breast Cancer Prescribed Sacituzumab Govitecan

Phenotype-First Patient Matching with SimPheny Identifies Diagnostic Candidates Beyond Curated Gene Associations

Physician Perspectives on Returning Research Results to Kaiser Permanente Research Bank Participants

Genome and Exome Sequencing Reanalysis: Improvement to Diagnostic Yield and Classification of Variants Over Time

Inconsistencies in Carrier Screening Guidelines Result in Inconsistencies in Equitable Fetal Risk Detection

Volumetric MRI findings as differentiating biomarkers for juvenile-onset GM2 gangliosidoses: Tay-Sachs versus Sandhoff disease

Integrating MLPA and NGS enables high-resolution characterization of BRCA1/2 genomic-rearrangements in Hereditary Breast,Ovarian cancer: Enhancing diagnostic sensitivity and therapeutic implications

Toward Best-Practice Validation of Disease Polygenic Scores for Adult Screening: Within-Family, Liability-Scale, and Ancestry-Aware Methods

Risk-Reducing Mastectomy Uptake Among High-Penetrance Gene Carriers: A Real-World Cohort Study from Ramathibodi Hospital, Thailand

GeneMatcher-Facilitated Collaborative Research Ends Diagnostic Odysseys: From Candidate Gene Cohorts to Diagnostic Reports

Early Laboratory Performance with a Prenatal Screening Assay for simultaneous prenatal aneuploidy, recessive disease and serology compatibility screening

Design of a Randomized, Double-Blind, Placebo-Controlled, Phase 3, Efficacy and Safety Trial of Repinatrabit in Adults with Phenylketonuria

Adherence to NCCN Guidelines in Patients with Lynch Syndrome: A Single Institution Study

Regulatory Variation Underlying Immunometabolic Traits in Pacific Islanders

Identifying Potential Genetics Referrals in the Primary Care Setting: Impact of Genetic Counselor Triage

Multi-omics resolution of a complex germline chromothripsis-like translocation event in an undiagnosed rare disease case using telomere-to-telomere assembly

Diagnostic Testing After Positive Cell-Free DNA Screening for Sex Chromosome Aneuploidies: Clinical and Socioeconomic Determinants

Reproductive Outcomes in the PHEFREE Rare Disease Consortium for Phenylketonuria

Leveraging OpenAI GPTs for Precision Oncology: A Custom Guideline-Constrained Model in Hereditary Cancer

Characterizing the Burden of Gastrointestinal Disease in PTPN11-Related Noonan Syndrome: A Single Center Retrospective Cohort Study.

Transition from Pediatric to Adult Care for Patients with Inherited Metabolic Disorders: a Scoping Review of Challenges, Guidelines, and Solutions

Evaluating dosage sensitivity predictors for clinical copy number variant classification

Considerations for the Inclusion of Autosomal Dominant Conditions in Preconception Carrier Screening

Genetic disruption of the mevalonate pathway and immune dysregulation

Identifying the Barriers and Facilitators Adolescents and Young Adults with Cancer Predisposition Syndromes Face during Transition to Adult Care

A Locus-specific Database of COL1A1 and COL1A2 Gene Variants Associated with Osteogenesis Imperfecta

The Current and Ideal Outpatient General Genetics Clinic Workflow

Population frequency versus in silico prediction accuracy for variant pathogenicity criteria: evaluation in a cohort of 4000 exomes

Diagnostic Yield and Clinical Utility of Exome Sequencing With Copy Number Analysis in Adverse Fetal Outcomes: A Retrospective Case Series

A Global Phase 3 Trial (IB1001-303) and an Expanded Access Program of Levacetylleucine in Ataxia-Telangiectasia

Precision Genomics in Myeloid Malignancies: Insights from Combined Sequencing and Cytogenetic Profiling at UVA.

Bayesian Integration of Somatic MMR-d Signatures Elevates Pathogenicity Likelihood for Germline Mismatch Repair Variants

Phenotypic presentation of pathogenic variants in the GLA gene disclosed through a population genomic screening program

The Diagnostic Yield of Exome and Genome Sequencing in a Large and Diverse Cohort of Over 300,000 Patients: Context Matters

Why atypical findings matter: Follow-up testing finds diagnostic results related to atypical cfDNA screening

Development of a Novel Mouse Model of Mitochondrial Membrane Protein-Associated Neurodegeneration

Expression Profile of the SLC22A2 Gene in Kidney Renal Papillary Cell Carcinoma and Its Association with Clinical Outcomes

Recurrent CHD6 Variant Associated with a Neurodevelopmental Syndrome and an Episignature

A Systematic Evaluation of Structured Electric Health Record for Rare Genetic Disease Detection

DMD Testing In Adult Males Unknown To Have Dystrophinopathy – A Retrospective Analysis From A Sponsored DMD Testing Program

Association between Preimplantation Genetic Testing, Serum Aneuploidy screening and Pregnancy outcomes

Integrating clinical data, biomarkers and in vivo propionate oxidation to inform genotype-based phenotype prediction in Propionic Acidemia

Refining Somatic Variant Classification: A Single-Institution Evaluation of the 2022 ClinGen/CGC/VICC Oncogenicity Guidelines

Solving the Unsolved: Epigenomic Insights from Long-Read Sequencing Improves Diagnosis of Mendelian Disorders

Genomic newborn screening for G6PD deficiency in North Carolina: The burden of screen positive results and parent perspectives

LRSight: Clinical Long-Read Sequencing for Insight into Inheritance Risk

Expanded Cell-Free DNA Screening in Pregnancies with Major Congenital Anomalies Has a Low Diagnostic Yield

A real-world evidence study into the usage of olipudase alfa for acid sphingomyelinase deficiency in the United States

AML patients with leukemia cutis transformation showed similar cytogenetics and genomics profiles

Detection rate and family-centered procedure of postmortem genetic testing for sudden unexplained death in the young: systematic review and meta-analysis

Mainstreaming Hereditary Cancer Genetic Testing: Implementation Strategy Selection Across a Genomics-Enabled Learning Health System Network

Lessons learned from clinical use of the ACMG/CGC technical standards for somatic copy number alterations – challenges and improvement

Experts' perspectives on the clinical utility of prenatal cell-free DNA screening in pregnancies affected by GCK-MODY

A Pilot Study Investigating the Use and Monitoring of LNAA

Integrating Somatic and Germline Findings in a Patient with a Pediatric Ovarian Germ-Cell Tumor: PTEN Splice-Site Variant and Xq26.3-q28 Deletion

Long-Term (208-Week) Efficacy and Safety Outcomes of Cipaglucosidase Alfa+Miglustat in People with Late-Onset Pompe Disease Treated from PROPEL Baseline

Perspectives on the Role of Genetic Counseling-Trained Professionals in the Use of Genetic Therapies

CNVision: A Computational Framework to Predict Functional Impact of Intragenic Copy Number Variants

Integrative Exome, Optical Genome Mapping, and Variant-Effect Modeling in Consanguineous Couples with Recurrent Pregnancy Loss

Estimating Incidence and Exploring Phenotypic Spectrum of X-Linked Disorders of Purine Metabolism in All of Us

INTEGRATIVE TUMOR, GERMLINE AND POST-MORTEM ANALYSIS IDENTIFIES A GERMLINE SMARCE1 DRIVER IN FAMILIAL MENINGIOMATOSIS

Phase 1/2 Study of Intravenous Tividenofusp Alfa for Mucopolysaccharidosis Type II

Ending the diagnostic odyssey: Role of adult genetic clinic in patients with rare undiagnosed conditions.

Structural and Epigenetic Profiling of D4Z4 Arrays in FSHD using Oxford Nanopore Sequencing

Deep fetal phenotyping of “isolated” micrognathia significantly increases genetic diagnosis

Comparison of the Peroxisomal Biomarkers in Females with X-Linked Adrenoleukodystrophy

Detection of CBFB::MYH11 Fusion by Next-Generation Sequencing in an Acute Myeloid Leukemia Case With Atypical Cytogenetic Findings

Clinical Trial–Ready Outcomes in MED13L Syndrome: Baseline Results from a Prospective Natural History Study

Expanding Access to Hereditary Cancer Testing Through E-Visits and Automated Result Delivery: A Pilot Study in an Integrated Health System

Scalable, Routine, Long Read Genome Sequencing of Undiagnosed Rare Disease Samples

Fetal Fraction Percentages on Cell-Free DNA as Predictors of Preterm Birth and Hypertensive Disorders

Expanding the HGD Variant Spectrum and Addressing Missing Heritability in a 96-Patient Cohort

Cryptic TCF3::ZNF384 in a child with B-ALL and not achieved complete remission

Long-read whole‑genome sequencing reveals systematic frequency underestimation in gnomAD v4.1.0 for variants in challenging genomic regions

Measuring Disease Likelihood in Genomic Ascertainment

Never Stop Looking: Dual Diagnoses Due to Updated Gene-Disease Relationships in Exome Patients

It takes two: An initiative to increase partner carrier screening rates

Mucopolysaccharidoses: A case series of five pediatric cardiology patients in Marrakech,Morocco

High- and Low-Grade Gliomas Identified in Two Pediatric Patients with Germline PALB2 Variants

De Novo MAP2K4 Variants Cause a Novel Neurodevelopmental Syndrome With Impaired JNK Signaling in iPSC-Derived Neurons

Identifying Care Coordination Barriers and Optimal Support Practices for Families of Patients with Lysosomal Storage Disorders

Retrospective Review of Pediatric Inpatient Rapid Exome/Genome Testing at UNC Health in Chapel Hill

The Role of Deletion and Duplication Analysis in Cystic Fibrosis Carrier Screening

Pegtibatinase, an Investigational Enzyme Replacement Therapy, for the Treatment of Classical Homocystinuria (HCU): Design of the HARMONY Phase 3 Study

Novel Association of Soft Tissue Sarcoma with Tatton-Brown-Rahman Syndrome: A Case Report

The Impact of Gene-Specific Interpretation on Clinical Decisions in Monogenic Diabetes

Current Practices in Juvenile Huntington's Disease Epilepsy Care

Lessons Learned from Incidental or Secondary Findings Consented in Clinical Genome Sequencing for Pediatric Patients

Gaps in CFTR Carrier Screening: Population Diversity and Variant Representation

A Personalized Medicine Paradigm using clinical, biochemical, multiomics and cell based functional assays for delineating undiagnosed primary mitochondrial diseases

Copy-number loss of 17p11.2 with a TMEM127 pathogenic variant: a unique case of combined Smith-Magenis, Birt-Hogg-Dubé, and Hereditary Paraganglioma-Pheochromocytoma syndromes.

Announcing the Down Syndrome Health Measure

Assessing the Practicality of Direct-To-Patient Questionnaires for Identifying Patients Who Should Receive Genetic Testing

Evaluating the Impact of ClinGen/ACMG/AMP/CAP Beta Version 4 Guidelines on Variant Classification within the ClinGen ACADVL Variant Curation Expert Panel

Reassessing Smith–Lemli–Opitz Syndrome Screening: Reflections from a Recent Clinical Diagnosis

Whole Exome Sequencing of Metabolically Dysfunction Associated Steatotic Liver Disease in a Pakistani Subset: Exploratory Genetic Insights from South Asia

Promyelocytic Blast Phase of Chronic Myeloid Leukemia: A Rare Concurrent BCR::ABL1 and PML::RARA Rearrangements Highlighting the Role of Molecular Diagnostics

Determinants of Diagnostic Success in Neurological Disorders: A Comprehensive Analysis of the Undiagnosed Diseases Network Cohort

Assessment of Pancreatic Cancer Screening Practices among High-Risk Individuals: Opportunities to Promote Adherence

Optical Genome Mapping Resolves Positional Context of DMD Structural Variants for Accurate Diagnosis

Implementation and Application of Genetic Testing Requirements for Fetal Intervention Candidacy: Practical, Counseling, and Ethical Considerations

RNA sequencing aids in the molecular diagnosis of Mucopolysaccharidosis IVA: A case report

Unmasking Hereditary Risk: Clinical and Phenotypic Findings from Genomic Screening for Connective Tissue Disorders

Impact of Brazilian Rare Disease Policy on Inborn Errors of Metabolism and Lysosomal Storage Disorders: Time-Series and Predictive Modeling Analysis

The Utility of Genome Sequencing as a Diagnostic Tool for Children with Ataxia

Germline Gene Correction: A Modeling Study of Potential Impact on Severe Monogenic Diseases in the US

First Report of GLP-1 Agonist Use in MCAD Deficiency

Hospital-wide implementation of first tier rapid genome sequencing

Evaluating a digital patient navigator for genetics result management within a population genomic screening program

Reading between the Repeats: Clinical Long Read Sequencing for Tandem Repeat Disorders

Prenatal Diagnosis of Lymphatic Malformation Syndromes using Genome Sequencing

Hunting for Pseudodeficiency: A New MPS II Pseudodeficiency Allele?

Characterizing GenomeConnect Participant Experiences Receiving VUS Results Identified via Cancer Panel Testing

Care of Dystrophinopathy Carriers: Survey Results of Provider Practices in the United States.

Exploring the Unknown: Resolving Undiagnosed Rare Disease Cases using Long-Read Genome Sequencing and Epigenetics

Examining Differences in Genetic Testing in Fetal Anomalies by Sociodemographic Factors

Expanding Clinical Insight Into N-Acetylglutamate Synthase (NAGS) Deficiency: A Case Report of Diagnosis, Treatment and Long-Term Management

Interim Real-World Results from the Acorn Study: Long-Term Safety and Growth Outcomes of Vosoritide in Children with Achondroplasia

Therapeutic Phlebotomy in the Management of Iron Overload in Pyruvate Kinase Deficiency

Evaluation of Constellation Mapped Read Technology for Resolving Complex Variants in Medically Challenging Genomic Regions

The utility of hemoglobin electrophoresis in the setting of Expanded Carrier Screening

Incidental Identification of Citrullinemia Type 1 through Carrier Screening Post Liver Transplant

Pre-Test Clinical Enrichment Refines Interpretation of CFTR TG–T with or without R117H Haplotypes

Acceptability of Returning Research Results to Kaiser Permanente Research Bank Participants

Further Evidence for Predicted Loss of Function Variants Associated with Autosomal Dominant KDM5B-Related Neurodevelopmental Disease

Patterns of pcfDNA Ordering Between 8-10 Weeks Gestation by Provider Type

Acute neonatal presentations of hereditary fructose intolerance on sensitive infant formulas

Genomic modifiers of malignant and neurodevelopmental phenotypes in individuals with PTEN hamartoma tumor syndrome

Evaluation of the Serious Game Life with Hereditary Cancer

A Retrospective Analysis of Mitochondrial Genome Sequencing Data Reveals Opportunities for Improved Representation in Genomic Testing

Lightening the load: Does concurrent partner screening decrease the clinical genetic counseling burden?

Prenatal Diagnosis of Hypophosphatasia and Long-Term Outcomes Following Early Neonatal Asfotase Alfa Treatment

Genetic Identification of Fabry Disease Reveals a High Burden of Undiagnosed Phenotypes and Reduces Diagnostic Workup

Carrier Risk Assessment: Who Gets It and Where Do They Get It?

Implementing clinical pediatric pharmacogenomic (PGx) testing via genome sequencing (GS)

Abortions and Informed Decision-Making with Genetic Testing

Late Diagnosis of Attenuated MPS I in a 35-Year-Old Adult

A Natural History Study Exploring the Developmental Milestones of Children with 47,XXY (Klinefelter Syndrome) Under 36 Months of Age

Closing the GAPS in Hereditary Cancer: An EMR-Integrated Genetic Copilot for Guideline Adherence, Prevention, and Surveillance

AI and Drug Discovery with 100 Million Cells of Genome-wide Perturb-seq

Obstetrical Outcome in Brittle Cornea Syndrome: A Novel Case of Compound Heterozygous PRDM5 Variants Without Parental Consanguinity

Clinical and Biochemical Characterization of a Patient with Lysinuric Protein Intolerance, a Rare Disorder of Amino Acid Transport

Methylation Dysregulation in Imprinting Regions: Identifying Outliers and Clinical Interpretation

“An information hub”: Patients’ and clinicians’ perspectives on a digital platform for hereditary cancer cascade testing

Genomic profiling of nonverbal to minimally verbal individuals with autism and neurodevelopmental delays

Prenatal Diagnosis of de novo Wieacker-Wolff Syndrome: A Case Report

Mitochondrial abnormalities in a patient with ReNU Syndrome

Evaluating Genomic Testing Approaches and Clinical Workflow for Neurodevelopmental Disorders in a Single-Center Cohort

Impact of Specialty Clinic Evaluation on Antiepileptic Prescribing Patterns in Patients with Angelman Syndrome

Evaluating low-pass long read genome sequencing for concurrent variant detection and methylation profiling in rare diseases

Two Fetuses with ARCN1-Related Short Stature-Micrognathia Syndrome

ALDH18A1-related hyperammonemia with lactic acidosis

Expanding the Genetic and Phenotypic Spectrum of Ectodermal Dysplasia Using Short- and Long-Read Genome Sequencing

From Inpatient Success to Outpatient Gaps: Understanding Genetic Testing Barriers in Neurodevelopmental Care

High-Throughput Functional Characterization of Missense Variants Using a Quantitative Binding Assay for the Systematic Evaluation of Variant Effects

Prenatal Identification of Pyruvate Dehydrogenase E-1 Alpha Deficiency: A Case Report

Tividenofusp alfa treatment in a male sibling pair with non-neuronopathic mucopolysaccharidosis type II

Real-world characterization of Alport syndrome in a specialized renal genetics clinic

A Targeted Review of Institutional Genetic Testing Utilization to Improve Effectiveness: A Children’s National Hospital Experience

Diagnostic Utility of Next-Generation Sequencing for Somatic Mosaicism: Insights from Routine Clinical Practice

KCNT1-related epilepsy presenting with severe polyhydramnios

Successful utilization of immune tolerance induction in a pediatric patient with classic Fabry disease: a case report

Identifying Pathogenic FH Variants in a Healthcare-Based Cohort Demonstrates Associated Phenotypes May Be Less Common Than Previously Estimated

Exome Sequencing in a National Public System: Real-World Outcomes From a Brazilian NDD Cohort

Piloting the Forthcoming ACMG/AMP/CAP/ClinGen Standards for Sequence Variant Classification

Postnatal diagnosis of trisomy 13 in an infant with low-risk prenatal cell-free DNA screening and unremarkable prenatal imaging

Diagnosis of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) with Absent EFTB Expression and Negative Genome Sequencing

Multimodal Characterization of Neurological Symptoms in Niemann-Pick Disease Type C

Establishment of a Streamlined Hypermobility Clinic at a Hybrid Community/Academic Medical Center

Tissue is the Issue: Comparison of Diagnostic Yield Between Blood and Tissue-Based Genetic Testing in Individuals with Vascular Anomalies

Prenatal Genomics to Postnatal Outcomes: Rethinking Prognosis in a Skeletal Ciliopathy

CHARGE 3D neural tube model recapitulating impaired cranial neural crest migration

The Genomics-enabled Learning Health Systems (gLHS) Network: Selection of Projects to Increase Adoption of Genomic Medicine Practices in Health Systems

Clinical Impact of NF1 Exon 31 [23a] Truncating Variants: Typical NF1 Phenotypes with Reduced Cutaneous Features

Abnormal Cortical Development in a 22w5d Fetus with Mosaic Rubenstein-Taybi Syndrome

The Clinical Utility of DNA Methylation Profiling in Pediatric CNS Tumors: A Single-Institution Study of 377 Cases

Identification of Tetraploidy in Products of Conception Testing: Description of Cohort, Parental Origin, and Evidence of Molar Pregnancy

Integration of Short- and Long-Read Sequencing in the Prenatal Diagnosis of Fryns Syndrome

Omnigenic Enrichment of Singleton Loss-of-Function Variants Highlights Neurodevelopmental Mechanisms Underlying Microcephaly

Clinical validation of targeted somatic structural variant detection in pediatric cancer via long-read sequencing

Fetal Genome Sequencing Identifies Myotonic Dystrophy Type I

Systematic gaps in reporting variants of uncertain significance (VUS) and their reclassifications

Clinical Diagnostic Utility Of Exome Sequencing Reanalysis And Genome Sequencing In A Pediatric Cohort With Undiagnosed Genetic Disease

Prenatal Detection of Somatic PIK3CA Mosaicism Using Next-Generation Sequencing

Longitudinal clinical outcomes and early-life penetrance in a genomic newborn screening cohort: 25-month follow-up from the NeoGen study

A Comparative Study of Gene Inclusion in Global Newborn Sequencing Programs: Exploring Population Frequency Thresholds for PM2/BA1/BS1

PLA2G6-Associated Neurodegeneration: Prenatal Counseling and Diagnostic Testing in a Couple Heterozygous for a Pathogenic Variant

Describing Genetic Variants in Neurological Vascular Malformations: Clinical Features & Treatment Implications

Multicenter pilot evaluation of a new AI-based metaphase finder for application in karyotyping peripheral blood and bone marrow specimens

Detection of a COL11A1 Variant on Prenatal Cell-free DNA Screening

260,000 variant effect measurements and novel calibration methods drive resolution of variants of uncertain significance

Evaluation of AI-assisted variant prioritization from genomic data for diagnosing patients with rare disease

Identifying Undiagnosed, Medically Actionable Familial Disease with Prenatal Trio Exome Sequencing

PTPN1-related autoinflammation is a common cause of Aicardi Goutières Syndrome with reduced penetrance

FXN Repeat-Primed PCR and Long-Read Sequencing Reveal Non-Canonical Repeat Expansions

Discordant prenatal and neonatal diagnosis in Kabuki syndrome

Trauma and Psychiatric Comorbidity in Genetic Counseling Patients: A Matched EHR-Based Analysis of Genetic Counseling Patients with Documented Trauma History

Secondary Findings Trends and Challenges in Clinical Genome Sequencing: A Clinical Laboratory’s Experience with an “Opt-in” Model

First trimester diagnosis of congenital diaphragmatic hernia as part of a severe genetic anomaly: a pathogenic 8.09MB terminal 15q26 deletion

CAGI 7 assessments for ACMG 2026: rigorous, independent evaluation of blinded predictions identifying reliable methodological advances for clinical variant interpretation

Evaluating AI-Assisted Phenotyping for Variant Prioritization in Clinical Laboratory Genome/Exome Workflows

Prenatal Diagnosis of Rubinstein-Taybi Syndrome in a Fetus with Posterior Encephalocele

Implementation of Ultra Rapid Long Read Genome Sequencing Inclusion Criteria Improves Diagnostic Yield, Impacts Management, Saves Costs, and Changes Policies

Enhancement of Variant Classification Tools in Support of Pediatric Cancer Genomic Analysis at an Academic Clinical Laboratory

Prenatal diagnosis of de novo 14q22q23 microdeletion in a fetus with striking facial profile

Phenotypic Expansion and Natural History of Leukoencephalopathy with Brain Calcifications and Cysts

Diagnostic Testing for Multiple Myeloma in the Era of Precision Medicine

Chromosome 17q12 deletion including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy

Exome sequencing of 3,118 individuals with variations in sexual characteristics

Long-read sequencing enables discovery of disease genes in complex neurological phenotypes

Prenatal Diagnosis of Capillary Malformation-Arteriovenous Malformation Syndrome in a Dizygotic Twin Gestation

Phenotypic and Molecular Characterization Reveals Novel Genetic Variants in a Cleidocranial Dysplasia

Spectrum and Frequency of Transcriptional Aberrations Identified Through Integrated RNAseq Analysis in 157 Clinical Cases

When Fetal Exome Misleads: The Critical Role of Geneticists in Prenatal Diagnosis

Prevalence of Congenital Anomalies of the Kidney and Urinary Tract in A National Database of Patients with Turner Syndrome

Chromosome 13q Alterations in Chronic Lymphocytic Leukemia: 13q14–q32 Deletions, Mixed Clonal Populations, Biallelic Loss, and Correlation with Clinical Outcome

Case Report: Fetal X-inactivation studies facilitate diagnosis and prognosis counseling for X-linked pyruvate dehydrogenase deficiency

Medical history of children with achondroplasia: Updated results from the global, prospective, observational PROPEL study

Establishing a Canadian genomic newborn screening pilot study: INFANT - Identifying At-Risk Newborns From the Analysis of NGS Testing

Use of Genome Sequencing in the Prenatal Diagnosis of RNU4atac-related Fetal Skeletal Dysplasias

Comprehensive Profiling of CFTR Using PureTarget™ panels, an Amplification-Free HiFi Sequencing Assay

Cost-effectiveness and diagnostic odyssey reduction of first-line genome sequencing in suspected genetic disorders: a systematic review and meta-analysis

Genetic Counseling for Suspected Misattributed Maternity

Characterization of phenotype and effect on diagnostic yield in a patient population undergoing clinical genome wide sequencing

Diagnostic Utility of Genomic Testing in a Challenging Vascular Anomaly: A Case Report

Postnatal diagnosis of DNAH14-related disorder through novel variant

Analyses of Large-Scale Datasets Demonstrates the Common Thermolabile MTHFR Variant Lacks Clinical Utility, Diagnostic Value, or Predictive Value

LDLRAP1 Heterozygosity in Hypercholesterolemia: Evidence from a Genome-First Cohort

Rare Prenatal Diagnosis of Congenital Disorder of Glycosylation Type IIm

The Futility of Genetic Testing for Adult Ehlers-Danlos Syndromes Referrals

The importance of alternative transcript analysis in rare disease diagnosis: A case series

90-Month Efficacy Outcomes with Cipaglucosidase Alfa plus Miglustat in Adults with Pompe Disease in ATB200-02, an Open-Label Phase I/II Study

Solving the Unsolved: HiFi Long-Read Sequencing Reveals Hidden Structural Variants in ADPKD

Systemic Comorbidities in Patients with a History of Unexplained Infertility: Preliminary Findings from a Single-Institution

Specification of frequency criteria for secondary findings genes to improve variant classification concordance

Comparison of Quality of Life Measures for Individuals with Tuberous Sclerosis Complex, Phelan-McDermid Syndrome, and PTEN Hamartoma Tumor Syndrome

Automated functional assessments of OCA2 variant pathogenicity in individuals with oculocutaneous albinism

Accurate detection of SCA27B using the PacBio PureTarget panel and novel computational methods

Diagnostic Findings of Cytogenomic Abnormalities in Human Sex Chromosomes From Postnatal Consecutive Cases

Systematic Variant Curation in the KCNMA1 Registry Accurately Delineates Disease Phenotype and Defines a Core Clinical Triad

AI-trained karyotyping algorithm facilitates the detection of abnormal clones that might otherwise remain undetected in B-cell ALL.

Early Start, Maximum Impact: Long-term Trial Data Supporting Cumulative Clinical Benefit in Children Who Initiated Vosoritide <2 Years Old

Structural Chromosomal Aberrations in High Hyperdiploid Cases: Correlation with Clinical Outcomes in Childhood Leukemia

Allgrove Syndrome: Case Report and Literatures Review

Detection and Classification of Uniparental Disomy from Clinical Whole-Exome Data Using the GermVar Pipeline

Development and validation of clinical criteria for monogenic diabetes testing in adult patients

Beyond molecular signature: Insights from Routine Use of a Newly Implemented Inhouse Myeloid Specific Panel

Prevalence of Incidental Findings in Pharmacogenomic Panel Testing

Prevalence of SMN1 p.A2G variant across a group of clinics in the American Southeast

Diagnostic Yield and Clinical Implications of Multigene Testing in Pediatric Aortic Aneurysm Patients

Multiple-Variant MEN1 Haplotypes Observed in Multiple Endocrine Neoplasia Type 1

Clinical Correlation of Reportable findings on Rapid Genomic Sequencing in Infants

DNA extraction from dried blood spots for Oxford Nanopore sequencing

Neuroimaging Analysis in Malan Syndrome: Structural Patterns and Seizure Correlates

ImputePGTA: accurate embryo genotyping and polygenic scoring from ultra-low-pass sequencing

A phase 2/2b study of infigratinib in children under 3 years old with achondroplasia: Design of PROPEL Infant and Toddler

Utilization of Twist CNV Backbone Spike-in Panel with exome for replacing cytogenetic arrays

Clinical Spectrum of Hirschsprung Disease: A 35-Year Cohort Analysis of Phenotypic Variability and Syndromic Associations

A framework for systematic application of ACMG/AMP BP2 and BP5 criteria to minimize reporting of variants of uncertain significance

Genetic Insights into Heart Health: Initial Findings of the CardioSeq Study

Detection of sequence variant and copy number mosaicism in genetic testing and its impact on clinical practice

KAT14 as a Novel Gene Associated with Diamond-Blackfan Anemia

Targeting CFTR Deletions and Duplications in Cystic Fibrosis Newborn Screening: Implications for Sensitivity and Equity

Phenotypic Delineation of 22q11.2 Deletion Syndrome in a Unique Southwestern Population: The Phoenix Children’s Perspective

Clinical Utility of Rapid Genome Sequencing in Pediatric Patients with Cardiac Phenotypes

STRtr-Kit: a classification system and evidence criteria for tandem repeat-disease relationships

Unraveling the Genetic Threads of Aortopathy: Development and Early Insights from a Targeted Genetic Testing Panel

Haploinsufficiency, Variant Class, and Phenotypic Severity in Autism: Insights from the SPARK Cohort

Benchmarking Variant Classification Quality: Concordance of an ACMG-Based Framework with >400,000 ClinVar Submissions From Over a Decade of Clinical Testing

Do Variants of Uncertain Significance Predict Outcomes in Long-Chain Fatty Acid Oxidation Disorders?

Clinical Spectrum and Cytogenetic Findings in Patients with Mosaic Trisomy 8: A 20-Year Study

A locus-specific database of G6PC1 gene variants associated with Glycogen Storage Disease type Ia

Test Ordering Patterns in the Diagnosis and Monitoring of Cerebrotendinous Xanthomatosis: A Six-Year Retrospective Review

Expanded Natural History of STAG1 Cohesinopathy

Optimized DNA Extraction from Low-Mass Samples for HiFi Long-Read Sequencing

Preliminary Safety and Efficacy of AK-OTOF Gene Therapy for Otoferlin Gene (OTOF)-mediated Hearing Loss

Incidence of DMD Variants in Asymptomatic Paternal References in a Cohort of Patients Pursuing PGT-M for DMD-related Disorders

A comprehensive literature review and case description of SETD1A neurodevelopmental disorder

Decoding Chromoanagenesis in Patients with Undiagnosed Congenital Disorders by Optical Genome Mapping

The utility of genetic testing in individuals with hypoxic-ischemic encephalopathy

Natural Language Processing Enables Efficient Deep Phenotyping for Clinical Genome Sequencing Analysis

Exploring Parent Perceptions of Genetic Evaluation Following Infant Loss

Congenital Bilateral Absence of the Vas Deferens (CBAVD): Diagnostic Algorithm to Pursue for More Accurate Genetic Counseling.

Seq4NICUs Pilot: Universal Rapid Genome Sequencing for NICU Infants

Rapid Genome Sequencing Outside of the NICU: utilization in pediatric and adult practices

WDTC1 haploinsufficiency is associated with the development of neurodevelopmental phenotypes and seizures

Seeing the Bigger Picture: Whole Genome Sequencing Improves Genome-Wide Detection of Structural Variants and Repeat Expansions in Pediatric Epilepsy

Parent Perceptions of Social Supports Following Prenatal Identification of Sex Chromosome Trisomy: Genetic Counseling Implications from the eXtraordinarY Babies Study

Repeat Expansion Detection in Huntington Disease by Whole Genome Sequencing

Comparative Safety of Avapritinib, Midostaurin, and Cladribine in Systemic Mastocytosis: A Meta-Analysis

Spinocerebellar Ataxia Type 50: Recurrent p.(Gly389Arg) Variant Highlights a Shared Molecular Mechanism and Expands the Clinical Spectrum

Expanding the Phenotype of the m.622G>A variant of MT-TF: A Case Series

Genotype-Phenotype Correlations and Clinical Spectrum Refinement in 3q26.31-3q28 Deletions

Shared Genetic Predisposition Between PA-VSD and TOF Revealed by Genome-Wide Sequencing in a Chinese Cohort

Integrating Functional Data in Variant Classification: Navigating Conflict, Calibration, and Low-Penetrance

Discovery of a novel intronic deletion in UNC13D in a family with Hemophagocytic Lymphohistiocytosis

Gene-Agnostic Analysis Uplifts the Diagnostic Yield of Undiagnosed Inherited Peripheral Neuropathy in Brazil

Understanding Parental Experiences from Prenatal cfDNA Results to XYY Diagnosis: Implications for Genetic Counseling from the eXtraordinarY Babies Study

De novo GLUL missense variant in individual with neurodevelopmental disorder prompts ClinGen gene curation, ClinVar submission, and new GeneMatcher cohort

The Clinical Impact of Genetic Testing in Infants with Congenital Heart Disease

Clinical Validation and Implementation of Optical Genome Mapping

Evaluating the Clinical Validity of Gene-Disease Relationships in Congenital Heart Disease

Next Generation Sequencing for Pediatric Cancer Predisposition: Analytical Performance of a 137-Gene Panel

Efficacy and safety of Asfotase alfa in adults with hypophosphatasia: a systematic review of randomized and non-randomized studies

12-Year Longitudinal Analysis of Exome and Genome Positivity Rates Across Adult, Pediatric, Neonatal Populations in New York's Largest Health System

Exploring the Social Phenotype of Kabuki Syndrome: Behavioral Differences Among Those With Pathogenic Variants in KMT2D vs. KDM6A

Utility of SNP Chromosomal Microarray in Neonatal Testing

Development of a Single Sequencing Platform for Variant Detection and Methylation Characterization

Discrepancy Between Clinical Detection and Population Database Representation of TUBB1 p.Phe260Ser

Phenotype–karyotype correlations in partial trisomy 13q: a systematic study using statistical methods

Analysis of Complex four-way BCR-ABL translocations in chronic myeloid leukemia patients and their response to TKI therapy

Real-World Healthcare Utilization, Effectiveness, Health-Related Quality of Life, and Adherence to Vosoritide in Children with Achondroplasia in the United States

Challenges in prioritizing variants with high allele frequency in rare monogenic diseases in gnomAD v4.1.0

Real-World Benefits and Tolerability of Trofinetide for the Treatment of Male Patients With Rett Syndrome: LOTUS Study Interim Results

Rare Genetic Mechanisms in DYM-related Dyggve–Melchior–Clausen Disease

The Mysteries of MYH11: Three Unique Variants Causing Thoracic Aortic Disease

Insights from manual curation of a Genome in a Bottle draft somatic small variant benchmark for a tumor normal pair

The Differential Diagnosis of Joint Hypermobility in Prepubertal Children with suspected EDS

Causal Necessity as a Framework for Genome Interpretation and Molecular Diagnosis

Diagnostic Yield and Spectrum of Genetic Variants Identified by Exome and Genome Sequencing: A Retrospective Review of 604 Cases

Improving Hereditary Cancer Risk Assessment: Systematic Reanalysis Supports Multigene Cancer Predisposition Panel Over Single Cancer Panel

Analysis of NPC1 Genotypes: Findings from the US Arimoclomol Expanded Access Program for Niemann-Pick Type C

MANE (Matched Annotation from NCBI and EMBL-EBI) version 1.5: an update with new non-coding genes and MANE Plus Clinical transcripts.

REAL WORLD DATA-DRIVEN INSIGHTS INTO THE PATIENT JOURNEY and DIAGNOSTIC DELAYS IN MCT8 DEFICIENCY (ALLAN-HERNDON-DUDLEY SYNDROME)

Uniparental Disomy Detection in a Clinical Trio Genome Sequencing Cohort

Effectiveness of Vosoritide in Children with Achondroplasia Starting Treatment Aged <2 Years: Interim Results from a Japanese Real-World Study

Optimization of Next-Generation Sequencing Library Preparation Workflows Through Automation

BODY COMPOSITION CHANGES DURING 12-MONTH VOSORITIDE TREATMENT IN CHILDREN WITH HYPOCHONDROPLASIA: A DXA-BASED PROSPECTIVE STUDY

Early experiences of a commercial laboratory with ultra-rapid genome sequencing - Insights from 100 cases

Inflammatory and Arrhythmogenic Cardiac Phenotype Associated with the DES c.832C>T (p.R278W) Variant

Comparative Evaluation of an AI-Based Scanner-Agnostic Add-On Utility Versus Conventional Karyotyping Software

Updating the spectrum of TPP1 mutations suspected of causing CLN2 (Batten disease) to enable earlier genetic testing and inform prevalence

Development and Clinical Validation of a Whole-Exome Sequencing Test Using Whole-Genome Sequencing by a Small Academic Molecular Diagnostics Laboratory

Expanding the ADAMTS6 Loss-of-Function Syndrome: Congenital Diaphragmatic Hernia, Renal and Respiratory Anomalies

Analytical validation of a clinical whole genome sequencing test as a LDT: Lessons learned under CAP and NYSDoH compliance,

Loss of the single fly ortholog of the human CDKL1-5, Cdkl, causes seizures, neuronal degeneration, mitochondrial defects, and sleep disturbances

Bridging the Gap Between Genomic Variants and Clinical Diagnosis: The Role of DNA Methylation Signatures in Unsolved Cases

From Early Access to Routine Care: Prospective Real-World Follow-Up of Vosoritide in Achondroplasia in France

Challenges in newborn sequencing: classification of variants with measurable biological dysfunction but limited clinical significance

Large-Scale Implementation of Rapid Genome Sequencing as a First-Tier Diagnostic in 662 Hospitalized Patients at a Tertiary Center

Laboratory Genetic Testing for Products of Conception – Is One Test Sufficient?

Expansion of the clinical and molecular spectrum of LINS1-associated disease

Diagnostic Utility of Exome Sequencing in Liver Transplant Recipients: A Single-Center Experience Using a Curated Mendelian Liver Gene List

Comprehensive Insight into the Clinical Phenotypic Spectrum of Loeys - Dietz Syndrome (LDS): Analysis of the Largest Chinese LDS Cohort

Fifteen years of microarray analysis: Hidden benefits of identifying stretches of homozygosity using the SNP array

Comprehensive Variant Curation in BMP4 Identifies a Definitive Association of Midline and Developmental Defects in Patients without Ocular Anomalies

Review of Clinical and Biochemical Data for a Previously Unpublished ATP7B Variant

Variant Interpretation and Reporting Approaches in the GUARDIAN Study of Genomic Newborn Screening

Preliminary Studies of Using Matrix-Assisted Laser Desorption/Ionization Time-of-Flight for Detection of CFTR Variants

MyAchonJourney: An online educational resource for individuals with achondroplasia and their families, developed by advocacy leaders and healthcare providers

Designing cell therapy for the CNS manifestations of CHS murine models

The eVai Suggested Diagnosis and VarChat: the enGenome AI Ecosystem for Variant Interpretation

Optical Genome Mapping for Hematologic Malignancy-Henry Ford Health System Experience

Tiny Babies, Big Data: ICD Billing Code Patterns in Neonates Diagnosed with Genetic Disease in the Neonatal Intensive Care Unit

Sex Chromosome Abnormalities Are a Major CMA and Chromosome Diagnostic Finding for Ambiguous Genitalia

The Yield of Genetic Testing in the Context of Joint Hypermobility and Aortopathy

WHOLE-EXOME SEQUENCING IDENTIFIES NEW CANDIDATE GENES FOR NON-SYNDROMIC OROFACIAL CLEFTS

Phenotypic Severity in People with Autism with Dual Genetic Diagnoses

Molecular phenotyping of T cells in the glaucomatous retina

Evaluating the Diagnostic Yield of Universal Whole Genome Sequencing for Patients with Congenital Heart Defects in the Cardiac ICU

Don't you already have a probe for that? Exploring the increasing complexity of PGT-M referrals for 'common disorders'

Predicting Chronic Kidney Disease Following Mild Kidney Dysfunction: An Integrated Multi-Trait Polygenic and Clinical Risk Model with Multi-Site External Validation

Maternal and Fetal Sources of Atypical NIPS Findings: A Case Series from Advocate Health Clinical Laboratories

Comprehensive genome-wide association analysis of chronic idiopathic axonal polyneuropathy in the UK Biobank

Discrepant TP53 copy number results in molecular and cytogenetic testing for hematologic malignancies

Leveraging Automated Tertiary Analysis for Exome Sequencing in Hereditary Hearing Loss: A Pilot Study

Alternative, less invasive specimen types for genome sequencing using Ultima UG100: A pilot study in an international patient centered cohort

Incidence of neurocognitive conditions in hypochondroplasia

Comparison of Chromosomal SNP Microarray and Cytogenetic Analysis for Products of Conception

Can Artificial Intelligence Reduce Racial and Ethnic Disparities in Fabry Disease Diagnosis?

Resolving Genetic Architecture of Complex Supernumerary Marker Chromosomes with Complementary Cytogenomic Methodologies

Optimizing Diagnostic Referrals for Marfan Syndrome: Phenotypic Risk Stratification in the Pediatric Population

From gene sequence to phenotype: clinical implications of a variant in SCN5A in Brugada Syndrome: a case report

Burden of Ciliopathy Variants in Single Ventricle Physiology Heterotaxy Patients

A Rare Iso-Xq Variant in Klinefelter Syndrome: Newborn Case Study

Early ICU rapid genome sequencing improves care in critically ill patients

A Novel Homozygous MYO9B Splice-Site Variant in a Family with Charcot–Marie–Tooth Disease: Expanding the Emerging Gene–Disease Relationship

“Transparency is Just the Key”: Exploring Perspectives of Adults with Sickle Cell Disease on Approved Gene Therapies

Unmasking Germline Mosaicism and Dual Molecular Diagnoses in a Multi-Sibling Case

Incidence of Nephrocalcinosis and Nephrolithiasis in the Pediatric Osteogenesis Imperfecta Population

Maternal Mosaic Unbalanced Translocation Detected After Atypical cfDNA Screen

Examining differences in neurodevelopmental domains in children with chromatin modifying conditions and non-syndromic autism spectrum disorder (ASD).

Characterization of an Atypical PML::RARA Rearrangement: Diagnostic Utility of Optical Genome Mapping and Implications for Hematological Malignancies

Updating the spectrum of GALNS mutations suspected of causing Morquio A (MPS IVA) to estimate genetic prevalence and improve diagnosis

Homozygous CEP290 inversion in a novel ciliopathy syndrome characterized by oligocone trichromacy and renal hypoplasia

An Expanded Sociotechnical Model Framework for Clinical Utility of Informatic Tools for Genomic Data

Molecular Insights into Non-JMD FLT3 Internal Tandem Duplications in Intron 14

Diagnostic Yield of Genetic Testing in Adults with Ataxia: A Decade of Experience at the Johns Hopkins Ataxia Center

Ring Chromosomes as Drivers of Genomic Instability

Genomic Ascertainment Study of ACVRL1- and ENG-Related Hereditary Hemorrhagic Telangiectasia

Points to consider for precise testing and interpretation of prenatal mosaic aneuploidy utilizing combined molecular and cytogenetic omics

Age and colonoscopy history adjusted targets for precancerous polyps in individuals with Lynch syndrome

When Routine Testing Is Normal: Optical Genome Mapping Identifies a Hidden Rearrangement in Multigenerational Family affected with Split-Hand/Foot Malformation

Survey of Perinatal Genetic Testing Perspectives for Congenital Diaphragmatic Hernia amongst Children’s Neonatal Hospital Consortium

Genome sequencing diagnoses atypical 7q11.23 region deletion in an adult patient

A Retrospective Exploration of Healthcare Communication with Adult Siblings of Individuals with Down Syndrome Over Time

Extremely low-level mosaic Turner syndrome: The line between normal and abnormal

Real World Experience Utilizing Cholic Acid as Adjunctive Therapy in Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder

Identification of a Novel De Novo AFF4 Missense Variant in an Infant with Clinical Features Resembling CHOPS Syndrome

Survival, Patient-Reported Outcomes, and Quality-of-Life in Children With HPP Treated With Asfotase Alfa Starting Before 2 Years of Age

Clinical and Genetic Counseling Complexities in a Neonate with Arterial Tortuosity Syndrome and Multiple Incidental Findings

Chenodeoxycholic Acid (CDCA) Improves Biochemical Parameters in Patients with Cerebrotendinous Xanthomatosis (CTX) Presenting with Normal Cholestanol Levels

A Novel LAMA3 Splice-Site Variant in Junctional Epidermolysis Bullosa: Investigating Splicing Consequences and Diagnostic Challenges

Using VariantMatcher to facilitate variant classification in populations underrepresented in public databases.

Delineating a case of retinal degeneration and hearing loss in the era of genome sequencing

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

Utilizing Chromosomal Microarray to Investigate a Complex Turner Syndrome Karyotype with a Mild Clinical Presentation

AP-5 Complex Variants Cause Macular Dystrophy: A Case Series

A balanced insertional translocation t(2;11)(q31;p13p14) found to underlie a familial case of WAGR syndrome

Achondroplasia and subdural bleeding: an under-recognized clinical finding and potentially erroneous suspicion of inflicted injury

Recurrent Pregnancy Loss in a Consanguineous Couple with Three Copies of the Same Balanced Translocations

Clinical Evaluation of DiagAI for Streamlined Variant Interpretation in Whole Genome Sequencing Testing on Genomics England patients.

Diagnosis of galactosialidosis, a rare lysosomal disorder, by combined genome sequencing and biochemical genetic testing

Formalizing Differential Diagnosis with Ontology-Guided Test Prioritization

Challenges in molecular test interpretation in patients with prior gene therapy for beta-thalassemia and sickle cell disease: one laboratory’s experience

SeqFirst Developmental Differences – Early whole genome sequencing offered using broad inclusion criteria improves access to early precise genetic diagnosis

Optic Genome Mapping Reveals Complex 22q13 Rearrangments in SHANK3-Unrelated Phelan-Mcdermid Syndrome

Capturing the Lived Experiences, Needs, and Stories (LENS) of the Shwachman-Diamond Syndrome Community: Insights to Inform Clinical Care and Advocacy

Complex Y Chromosome Rearrangement in a Patient With Mosaic Turner Syndrome

Expanding the Genomic Spectrum of Peruvian Patients with Marfan Syndrome and Other Connective Tissue Disorders

A Novel LAMA3 Splice-Site Variant in Epidermolysis Bullosa: Investigating Splicing Consequences and Diagnostic Challenges

Phenotypic and Genotypic Diversity in Disorders of Sex Development: Insights from a 10-year Cohort Study

Diagnostic Utility of Genome and Transcriptome Sequencing in Identifying PIGL Variants Associated with Atypical CHIME Syndrome

High-Throughput Detection of Pathogenic Repeat Expansions Using PureTarget: Concordance with Clinical Assays and Mosaic Insights

Diagnostic Insights into Adults with Pediatric Onset Disorders: Findings From the Undiagnosed Diseases Network

Neuropsychiatric Manifestations in Myhre Syndrome: Expanding the Phenotype to Guide Early Diagnosis and Monitoring

Obesity Among Patients with Chromosome 22q11 Duplication Syndrome

Test the Grandfather! Incidental In-frame DMD Deletions in Three Asymptomatic Families

An Exploration of Barriers to Diagnosis in Friedreich’s Ataxia

Long-Term Vosoritide Improves Bone Mineral Density and Bone Content in Children with Achondroplasia: Results from Quantitative Computed Tomography Analyses

Evaluating the Accuracy and Precision of Rare Genotype Calling by the Million Veterans Program Genotyping Array for Pharmacogenomic Variant Identification

Common polygenic background modifies risk for asthma among individuals with primary atopic disorders

Bi-allelic IRAK4 Variants are Associated with Severe Neurological Autoinflammation: An Expansion of the Clinical Phenotype

Complementary Long-Read Sequencing to Identify Variants in Neurological Phenotypes

Genetic Characterization and Clinical Manifestations in Adults with Hypophosphatasia in the United States

Underrecognized Late-Onset Forms of Vascular Ehlers–Danlos Syndrome: Insights from a Community Hospital Case Series

Molecular newborn screening uncovers hypophosphatasia in family members

Development of Functional Screening for Improved Understanding of TK2 Genetic Variants

Genetic Testing and Diagnostic Yield in Korean Children With Cerebral Palsy

Project FIND-OUT: Caregiver Utility Assessments Demonstrate the Value of Genetic Testing to Families

Clinical impact of the MAN2B1 c.2248C>T variant in patients with alpha-mannosidosis: genotype–phenotype insights from the SPARKLE registry

Rett Syndrome Without Typical Development or Regression—A Case Series

Development of a Comprehensive Rare Disease Registry Integrating Multisource Genomic and Phenotypic Data in Pakistani Patients

The Telltale Hearts: Infantile Onset Pompe Disease in an Age of Expanding Treatment Options

Navigating the real-world challenges of alpha-mannosidosis patients and caregivers: understanding their journeys during, and after, diagnosis

A Tale of Two Clinics: Implementation of Genetics in Family Medicine

SIX1 c.396G>C (p.Lys132Asn) in a UAE Family with Autosomal Dominant Hearing Loss Reveals Regional Diagnostic Gaps

Vascular anomalies identified in patients with Maffucci syndrome: review of the literature

Clinical and molecular heterogeneity in DYRK1A-related syndrome: a case series of five Chilean patient

Lenz-Majewski Hyperostotic Dysplasia: Characterizing the Clinical Spectrum, Defining Genotype-Phenotype Correlation and Proposing Guidelines for Diagnosis and Management

Inter-Laboratory Variation in Whole Genome Sequencing Products: Practical Implications for Clinical Test Selection

Distinct Genetic Landscape of Hypertrophic Cardiomyopathy in Taiwan: Population-Specific Variants and Fabry Disease Burden

Identification of a Novel Founder Splice Variant in IQCE Underlies Isolated Post-Axial Polydactyly in the Amish Community

Case report with biallelic variants in GCNT2 implicates exon 1B in congenital cataracts

Physical Characteristics at 3 years of Age in Children with 47,XXY Treated with Testosterone During Infancy

Identification of Compound Heterozygous CYP11A1 Variants Via Reanalysis of Clinical Sequencing Data

Establishing GABBR1 disease association

Gilbert’s Gambit: Evaluating Ancestry-Specific Effects of UGT1A1*28 by Phenome-Wide Association Studies in the All of Us Research Program

Copy Number Variants Associated with a Common Neurodevelopmental Phenotype

SOX9-associated conditions: A comparison of clinical presentations and outcomes of patients with campomelia versus acampomelia

Expanding the Genotype, Phenotype, and Natural History of Individuals Who Have ASPM Variants

Endogenous ADAR-Mediated RNA Editing as a Therapeutic Strategy for Autism Spectrum Disorder

Using short-reads alignments to a pan-genome graph to call variants in Challenging Medically Relevant Genes in the Million Veteran Program

Brushing up on Primary Ciliary Dyskinesia: A Pediatric Case Series with a Shared CCDC39 c.1167+1261A>G Variant and African Ancestry.

Neurodevelopmental Testing in Children with Mitochondrial Disease

Utility of RNA Sequencing as a Diagnostic Tool for Aberrant Splicing in Adult Polyglucosan Body Disease

Differentiating the Cardiovascular Phenotypes of Ehlers-Danlos Syndrome Subtypes in the All of Us Research Program

Retrospective Analysis of Ambulatory Children with Osteogenesis Imperfecta Demonstrates Increased Fracture Rate and Reduced Bone Density During the COVID-19 Pandemic

Variants of Uncertain Significance in ANKRD17: Challenges and Opportunities in Clarification in a Natural History Study

CLINICAL AND MOLECULAR SPECTRUM OF PATIENTS DIAGNOSED WITH LOEYS-DIETZ SYNDROME IN MALAYSIA: A DESCRIPTIVE STUDY

CO-OCCURRENCE OF RCEM (RECURRENT CONSTELLATIONS OF EMBRYONIC MALFORMATION) & RCFD (RECURRENT CONSTELLATIONS OF FETAL DISRUPTION) IMPLICATE COMMON RISK FACTORS

Clinical and Molecular Investigation of Suspected Marfan Syndrome in a Resource-Limited Caribbean Cohort

Benefits of Collaboration Between Clinicians and Rare Disease Organizations

Expanding the Phenotype of SETD5-related Disorder Through a Facebook Support Group

Patient Characteristics Associated with Decisions on Secondary Findings and Data Sharing for Exome and Genome Sequencing

Differential Diagnoses for Down Syndrome: Clinical Cases from Chile

COL4A1-related Syndrome Case Report: To Anticipate or to Not Anticipate

Updating the spectrum of ARSB mutations suspected of causing Maroteaux-Lamy (MPS VI) to enable genetic prevalence estimation and improve diagnosis

Ophthalmologic Presentation Across Subtypes of Osteogenesis Imperfecta

Facilitating Clinical Characterization of Childhood-Onset Essential Hypertension

Beyond the Panel: Expanding the Differential Diagnosis of Congenital Diarrhea in an Individual with Multiple Congenital Anomalies

Non-surgical Management of an Infant with Treacher Collins Syndrome Using the Orthodontic Airway Plate: A case report with one-year follow-up

Unusual Cytogenetic Variant: Partial Trisomy 18 Associated with a Ring Chromosome, Case Report

Vanishing White Matter Disease: An Early Warning Sign for Post-Infectious Neurological Regression

Novel TBX1 Partial Deletion in Adult Female with 22q11.2 Deletion Syndrome Phenotype

Partial Androgen Insensitivity Syndrome in Three Siblings Revealed by an Androgen Receptor Synonymous Variant in the Democratic Republic of Congo

When 'X' does not mark the spot: A surviving male with incontinentia pigmenti.

Craniofacial Microsomia in a Girl with Distal 22q11.2 Duplication Syndrome

Acetazolamide-Responsive Episodic Ataxia in DHDDS-Related Congenital Disorder of Glycosylation

A Family with Dual Genetic Diagnosis: Clinical Presentation and Review of the Literature

Presentation of an individual with a 3.3 Mb duplication in 3q13.2q13.31

A 60-Year-Old Female with PIK3R1-Related SHORT Syndrome: The Oldest Reported Diagnosis and Possible Expanded Adult Phenotype

BMP4-related Autosomal Dominant Syndromic Microphthalmia 6: Expanding Phenotypic Spectrum with Urogenital Anomalies and Multiple Lipomas

Variant Klinefelter Syndrome with Xp deletion including the ARSL gene: A Male with Carrier-Like Presentation of X-Linked Chondrodysplasia Punctata 1

Expanding the Phenotypic Spectrum of Hereditary Hemorrhagic Telangiectasia (HHT): A Pediatric Case of ACVRL1-assocaited HHT with Gastrointestinal Polyposis

CHD3-related Snijders Blok Campeau syndrome with Syringomyelia without Chiari Malformation

Stayin' Alive with Triploidy: A Rare Case of Prolonged Survival and Discordant Prenatal Cell-Free DNA Screening

Whole-Genome Sequencing Reveals a Novel CACNA1B Missense Variant in a Child with Infantile Spasms and Neurodevelopmental Delay

A Rare Case of NALCN-Related Neurodevelopmental Disorder with Hypotonia and Multiple Anomalies in Old Order Amish

KCNA7 as a Novel Candidate Gene in Hypokalemic Periodic Paralysis

NFIB and SMARCA5 Pathogenic Variants in a Child with Global Developmental Delay and Oculocutaneous Albinism: Hickam’s Dictum Prevails!Introduction

Beyond the Gene Panel: Identification of a Novel HSPB8 Frameshift Variant in an Adult with Progressive Myopathy

Case Study: Is There a Risk for Tumorigenesis with Germline MTOR Gain-of-Function Variants?

Contiguous Gene Deletion Involving COL4A1 and COL4A2 in a Patient with Thin Basement Membrane Nephropathy: A Case Report

Pallister-Killian syndrome due to hexasomy 12p mosaicism found in diaphragmatic fibroblasts

Dual Diagnosis of Klinefelter Syndrome and Rett Syndrome in a Male Patient: A Rare Co-occurrence with Diagnostic and Phenotypic Implications

NOTCH1-related disorder interfamilial variability: From Adams-Oliver syndrome to lymphatic dysplasia

Maternally Inherited KCNQ1-Associated Gingival Fibromatosis with Pituitary Dysfunction: A Case Report

ELMO2-Related Primary Intraosseous Vascular Malformation: New diagnosis and phenotypic expansion of an ultra-rare vascular anomaly syndrome

Mutation of a Cysteine Residue in LAMP2 Affecting a Disulfide Bridge in a Patient with Danon Disease

Unmasking the Unexpected: Type 1 Bile Acid Synthesis Defect Presenting as Rickets

First patient with Alazami Syndrome presenting with hypothyroidism

Mosaic FBXW7-related Neurodevelopmental Disorder Presenting with Developmental Delay, Hypotonia, Expressive Language Delay, Anorectal Malformation, and Proximal Aorta Dilation

A Likely Pathogenic CHD7 Variant in a Family Without Manifestations of CHARGE Syndrome

Presentation of a Novel FLNA-related Periventricular Nodular Heterotopia Spectrum Disorder Phenotype in a Three-Generation Family

Expanding the ADAR-Related Spectrum: A highly suspicious de novo variant in Aicardi-Goutieres syndrome

Mosaic X Chromosome Loss and ARSL Deletion in a Neonatal SRY-Positive 46,XX Male

Expanding the Phenotypic Range of Variants in the PPP1R3F Gene

A Rare Metabolic Disorder with Phenotypic Overlap to VACTERL: Milder Presentation of Congenital NAD Deficiency Disorder

Complex X Chromosome Mosaicism Revealed Through Cytogenetic Analysis: Implications for Diagnosis

When speed matters: ultra-rapid genome diagnosis enables precision therapy in FGF12-related developmental and epileptic encephalopathy

SCHINZEL–GIEDION SYNDROME DUE TO MOSAIC SETBP1 PATHOGENIC VARIANT IN AN INFANT WITH MULTISYSTEMIC MALFORMATIONS: A CASE REPORT

Variable Presentation of FOLR1 Related Cerebral Folate Transport Deficiency In Two Sisters

Sleep-disordered breathing in neonatal PURA syndrome

MED13 associated with multiple congenital anomalies and a Goldenhar syndrome phenotype

De Novo GNAS Frameshift Variant With Extensive Intracranial Calcifications and Dental Root Resorption: Expanding the Phenotypic Spectrum

HETEROZYGOUS DOMINANT-NEGATIVE VARIANTS IN DEAF1: A CLINICAL CASE OF VULTO-VAN SIFOUT-DE VRIES SYNDROME CAUSED BY A DE NOVO DEAF1 VARIANT

Unique Case of GABRA4-Related Neurodevelopmental Disorder with a Novel Frameshift Variant

Expanding the Phenotypic Spectrum of Warburg Micro Syndrome

One Syndrome, Many Presentations: A Case Report on 22q11.2 Duplication Syndrome

Phenotypic variability among family members with SIN3A-related disorder.

A diagnostically challenging case of fibrochondrogenesis-like skeletal dysplasia caused by a mosaic in-frame deletion in COL11A2

Late-Onset Recessive Spinocerebellar Ataxia due to GDFP2 (SCAR27): An elusive answer and a phenotype expansion

Dual Genetic Findings in a Child with Kabuki Syndrome and G6PD Deficiency: A Rare Diagnostic Challenge

The utility of deep phenotyping in elucidating a mechanism in a unique case of autoimmune cytopenia

Response to intravenous immunoglobulin in a patient with Phelan McDermid Syndrome and subacute regression

A De Novo (p.Phe244Leu) Variant in LRRC8A Suggests VRAC Gating Dysfunction in a Child with a Neurovascular Skeletal Phenotype

Unmasking GLI3-Related Pallister-Hall Syndrome: A Greig Cephalopolysyndactyly Syndrome–Predicted Variant Reveals Limits of Genotype-Phenotype Correlation

Dual Pathway Dysregulation in an Infant with Concurrent TSC2 and NF1 Pathogenic Variants: Complex Multisystem Phenotype and Therapeutic Implications

The Mystery of the Floppy Infant: The Unusual Suspects

Beta-propeller protein-associated neurodegeneration (BPAN) caused by a novel WDR45 splice variant: a case study of an undiagnosed epileptic encephalopathy syndrome

ERF Truncating Variants Present with Multiple Congenital Anomalies and Developmental Delay without Craniosynostosis: Phenotype Expansion

Xq12 Chromosome Duplication: A Family Case Report

Long-read genome sequencing determines phasing and methylation status of two de novo variants in PTPN11 in newborn with hypertrophic cardiomyopathy

Hypolipidemia and Fat-Soluble Vitamin Deficiency in a 12-Year-Old Female with Variants in APOB, MTTP, and PCSK9

Comprehensive Genetic Evaluation in a Male with Congenital Thrombocytopenia, Hearing Loss, and Developmental Delay: Expanding the RAP1B Phenotype

Vosoritide Therapy in a Patient with Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans

Expanding the Fibrillinopathy Spectrum: Craniosynostosis in Early-Onset Marfan Syndrome

CHIMERIC GENOME-WIDE UNIPARENTAL DISOMY IN TWO CHILDREN WITH MASSIVE THYMUS ENLARGEMENT

Long-Read RNA Sequencing Enables Integrated Phasing and Functional Clarification of SLC1A4 Variants in Autosomal Recessive SPATCCM

Perrault Syndrome in Two Siblings Due To Rare LARS2 Variant Not Previously Reported in Homozygous State

Expanding the Molecular and Clinical Landscape of MEHMO Syndrome: A Newly Identified EIF2S3 Missense Variant Associated with Severe Brain Involvement

Combined oxidative phosphorylation deficiency 35 due to TRIT1 variants: Novel phenotypes and ketogenic diet utilization

TBK1-Related Neurodegeneration: Clinical and Genetic Variability Across a Case Series

Rare Chromosome 18q Rearrangements and Hypoplastic Right Heart Syndrome: A Case Report and Genetic Insights

Expanding the Phenotypic Spectrum of DLL1-Related Neurodevelopmental Disorder: A Familial Case Series

Variable Expressivity, Incomplete Penetrance, and Perceptions of Health: A Family Presenting with an Unspecified Spinocerebellar Ataxia

Multigenerational Presentation of MARK2-Related Disorders

Two Month Old with ACTA2 Arg179His-positive Multisystemic Smooth Muscle Dysfunction Syndrome with Review of the Literature

Distinguishing AP2S1 Mediated Familial Hypocalciuric Hypercalcemia from Primary Hyperparathyroidism Helps Clarify Familial Hypercalcemia and Avoid Unnecessary Surgery

Novel SETX p.Cys2038Arg Helicase-Domain Variant in a Family - Ataxia With Oculomotor Apraxia Type 2

Acute heart failure in a 6-year-old monozygotic twin with ENPP1 deficiency initially presenting with ARHR2

Missed MAP3K7: Shortcomings of cardiac focused genetic panels in the evaluation of familial cardiomyopathy

A diagnostic odyssey leading to the AIFM1-related disorder

Beyond Embryonal Tumors, Could BWS Increase The Risk of Other Tumors?

A Triple Diagnosis Case Illustrating the Need for Continued Re-evaluation

Coloboma as a Feature Associated with PACS2-Related Neurodevelopmental Disorder: A Case Report

RBBP5-Related Neurodevelopmental Disorder: Expanding the Phenotypic and Variant Spectrum

Ectopic Expression of MEIOSIN and RAF1 Downregulation Is Associated with Neurodevelopmental Delay in a Child with Balanced Translocation t(3;19)(p26;q13.4)

Response to bilateral globus pallidus interna (GPi) deep brain stimulation in a woman with dystonia due to ATP1A3 p.Arg756Cys

Expanding the phenotype of ZNF462

Diagnosis of Two Conditions in a Pediatric Patient: DNAJC12-Related Hyperphenylalaninemia and Von Willebrand Disease with Bioinformatic Reclassification of VWF Variant

Novel Variant Identified in a Child with Baraitser-Winter Syndrome 2

Congenital Methemoglobinemia with Concurrent Hemoglobin M and SC Disease

A 10-Year-Old Male with Four Genetic Diagnoses and a Complex Multisystem Presentation

Rare case of WNK3-related neurodevelopmental disorder (Prieto Syndrome): Expanding the phenotype

Expanding the Spectrum of ALDH18A1-Related Neurodegeneration: A Case of Late-Onset Spastic Upper Motor Neuron Disorder

Homozygous 6p deletion results in significant seizures, hypotonia, and global developmental delay.

A Novel Presentation of POLG-Related Encephalopathy Presenting As Landau Kleffner Syndrome

Paternal Uniparental Isodisomy of Chromosome 2 Leading to a Rare Connective Tissue Disorder Associated with the EFEMP1 Gene

An unusual neonatal presentation of Cleidocranial dysplasia; a case report.

Expansion of the Intrafamilial Phenotype of NOTCH1 Left Outflow Tract Abnormalities

A 15-year-old female with compound heterozygosity for novel likely pathogenic variants in the SMG9 gene: expansion of the genotype/phenotype.

Intermediate Form of Menkes in an African American Individual: A Case Report

Management in a Familial case of CBL-related Noonan Syndrome-Like Disorder

A Real-World Case of 3β-HSD Deficiency, a Bile Acid Synthesis Disorder, Treated with Cholic Acid

LRRK1-related Osteosclerotic Metaphyseal Dysplasia presenting with Immune Thrombocytopenia

The Second Reported Case of Neonatal Histiocytoid Cardiomyopathy Due to Biallelic Variants in PLD1

A Novel Case of Hypertrophic Obstructive Cardiomyopathy in an Adult Patient with Distal Partial Trisomy 15q

P324 Unusual Cytogenetic Variant: Partial Trisomy 18 Associated with a Ring Chromosome, Case Report