Wendy Chung, MD, PhD
Chief of Pediatrics
Mary Ellen Avery Professor of Pediatrics, Harvard Medical School
Image
Wendy Chung, MD, PhD
Chief of Pediatrics
Mary Ellen Avery Professor of Pediatrics, Harvard Medical School
Medical Services
Languages
English
Education
Undergraduate School
Cornell University
1990
Ithaca
NY
Graduate School
Rockefeller University
1996
New York
NY
Medical School
Cornell University Medical College
1998
New York
NY
Internship
Pediatrics
Columbia Presbyterian Medical Center
1999
New York
NY
Residency
Pediatrics
Columbia Presbyterian Medical Center
2000
New York
NY
Fellowship
Clinical Genetics; Molecular Genetics
Columbia Presbyterian Medical Center
2003
New York
NY
Certifications
American Board of Medical Genetics and Genomics (Clinical Genetics)
American Board of Medical Genetics and Genomics (Clinical Molecular Genetics and Genomics)
Professional History
Dr. Chung is a physician scientist and directs NIH funded research programs in human genetics of birth defects including congenital diaphragmatic hernia, esophageal atresia, and congenital heart disease. She leads a large study of autism called SPARK and a study of 180 rare neurogenetic conditions called Simons Searchlight. She has led studies to improve newborn screening for spinal muscular atrophy, Duchenne muscular dystrophy, and now GUARDIAN (Genomic Uniform screening Against Rare Diseases In All Newborns).
Approach to Care
I strive to bring genomic information to all patients to inform their care and allow each patient a tailored care plan to achieve their best health and full potential.
Publications
Prenatal genomic sequencing: Navigating uncertainty. View Abstract
Disrupted endosomal trafficking of the Vangl-Celsr polarity complex underlies congenital anomalies in Xenopus trachea-esophageal morphogenesis. View Abstract
A probabilistic graphical model for estimating selection coefficients of nonsynonymous variants from human population sequence data. View Abstract
Covering medical care costs for participants in the eMERGE Network: Challenges for equity and implementation. View Abstract
Understanding speech and language in KIF1A-associated neurological disorder. View Abstract
Pathogenic PPP2R5D variants disrupt neuronal development and neurite outgrowth in patient-derived neurons that are reversed by allele-specific knockdown. View Abstract
Opportunities and Challenges of Fetal Gene Therapy. View Abstract
Distinct Clinical Phenotypes in KIF1A-Associated Neurological Disorders Result from Different Amino Acid Substitutions at the Same Residue in KIF1A. View Abstract
Genomic newborn screening: exploring opportunities and navigating pitfalls while ensuring inclusivity. View Abstract
Data-driven consideration of genetic disorders for global genomic newborn screening programs. View Abstract
Understanding individualised genetic interventions as research-treatment hybrids. View Abstract
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder. View Abstract
A probabilistic graphical model for estimating selection coefficient of nonsynonymous variants from human population sequence data. View Abstract
A Pilot Meta-research on Evolving Evidence Behind Genetic Variant (Re)Classification. View Abstract
SNAP25 variant I67N: synaptic phenotypes, drug response and proteome changes in human neurons. View Abstract
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder. View Abstract
The new newborn screening. View Abstract
Efficient identification of de novo mutations in family trios: a consensus-based informatic approach. View Abstract
Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes. View Abstract
A toxic gain-of-function variant in MAPK8IP3 provides insights into JIP3 cellular roles. View Abstract
Systematic method for classifying multiple congenital anomaly cases in electronic health records. View Abstract
De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms. View Abstract
GATA6 regulates WNT and BMP programs to pattern precardiac mesoderm during the earliest stages of human cardiogenesis. View Abstract
Recessive genetic contribution to congenital heart disease in 5,424 probands. View Abstract
Modeling SMAD2 Mutations in Induced Pluripotent Stem Cells Provides Insights Into Cardiovascular Disease Pathogenesis. View Abstract
Graph-based prototype inverse-projection for identifying cortical sulcal pattern abnormalities in congenital heart disease. View Abstract
Distinct Clinical Phenotypes in KIF1A-Associated Neurological Disorders Result from Different Amino Acid Substitutions at the Same Residue in KIF1A. View Abstract
Proprioceptive synaptic dysfunction is a key feature in mice and humans with spinal muscular atrophy. View Abstract
Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data. View Abstract
MYRF is Essential in Mesothelial Cells to Promote Lung Development and Maturation. View Abstract
Motor pool selectivity of neuromuscular degeneration in type I spinal muscular atrophy is conserved between human and mouse. View Abstract
Comparison of autism domains across thirty rare variant genotypes. View Abstract
De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies. View Abstract
Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathy. View Abstract
Risk factors affecting polygenic score performance across diverse cohorts. View Abstract
Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions. View Abstract
Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy. View Abstract
GATA6 regulates WNT and BMP programs to pattern precardiac mesoderm during the earliest stages of human cardiogenesis. View Abstract
Correction: Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model. View Abstract
Physical Activity during Adolescence and Early Adulthood and Breast Cancer Risk before Age 40 Years. View Abstract
DNA Sequencing in Newborn Screening: Opportunities, Challenges, and Future Directions. View Abstract
Polygenic score distribution differences across European ancestry populations: implications for breast cancer risk prediction. View Abstract
Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact. View Abstract
Designing and implementing the IDEAL Study: A randomized clinical trial of APOE genotype disclosure for late-onset Alzheimer's disease in an urban Latino population. View Abstract
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. View Abstract
Disrupted endosomal trafficking of the Vangl-Celsr polarity complex underlies congenital anomalies in trachea-esophageal morphogenesis. View Abstract
Adaptation of ACMG/AMP guidelines for clinical classification of BMPR2 variants in Pulmonary Arterial Hypertension resolves variants of unclear pathogenicity in ClinVar. View Abstract
SOX17-Associated Pulmonary Hypertension in Children: A Distinct Developmental and Clinical Syndrome. View Abstract
Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders. View Abstract
Genome Sequencing is Critical for Forecasting Outcomes Following Congenital Cardiac Surgery. View Abstract
A new type of blood-brain barrier aminoacidopathy underlies metabolic microcephaly associated with SLC1A4 mutations. View Abstract
Motor phenotypes associated with genetic neurodevelopmental disorders. View Abstract
Cutaneous Squamous Cell Carcinoma in Transketolase Deficiency. View Abstract
Genetics and precision genomics approaches to pulmonary hypertension. View Abstract
Universal newborn screening using genome sequencing: early experience from the GUARDIAN study. View Abstract
Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis. View Abstract
Decision Support for Clinician Referral of Patients With Potential BRCA1/2 Mutations for Genetic Counseling: A Secondary Analysis of a Cluster Randomized Clinical Trial. View Abstract
Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants. View Abstract
Role of Forkhead box F1 in the Pathobiology of Pulmonary Arterial Hypertension. View Abstract
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders. View Abstract
PLCG2 variants in cherubism. View Abstract
Clinical and neuroradiological spectrum of biallelic variants in NOTCH3. View Abstract
Context-dependent roles of mitochondrial LONP1 in orchestrating the balance between airway progenitor versus progeny cells. View Abstract
Clinical characteristics, longitudinal adaptive functioning, and association with electroencephalogram activity in PPP2R5D-related neurodevelopmental disorder. View Abstract
Antisense oligonucleotide therapy in an individual with KIF1A-associated neurological disorder. View Abstract
Pregnancy-Related Factors and Breast Cancer Risk for Women Across a Range of Familial Risk. View Abstract
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. View Abstract
Rare disease diagnosis using knowledge guided retrieval augmentation for ChatGPT. View Abstract
Ophthalmic Findings in the KIF1A-Associated Neurologic Disorder (KAND). View Abstract
The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants. View Abstract
Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delay. View Abstract
Identifying novel data-driven subgroups in congenital heart disease using multi-modal measures of brain structure. View Abstract
Return of genetic research results in 21,532 individuals with autism. View Abstract
SETBP1 haploinsufficiency and related disorders clinical and neurobehavioral phenotype study. View Abstract
Frameshift variants in C10orf71 cause dilated cardiomyopathy in human, mouse, and organoid models. View Abstract
Genome Sequencing for Diagnosing Rare Diseases. View Abstract
Promoting equity in clinical research: The role of social determinants of health. View Abstract
Consideration of disease penetrance in the selection of secondary findings gene-disease pairs: A policy statement of the American College of Medical Genetics and Genomics (ACMG). View Abstract
Pathogenic PHIP Variants are Variably Associated With CAKUT. View Abstract
Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder. View Abstract
Genetic Testing Resources and Practice Patterns Among Pediatric Cardiomyopathy Programs. View Abstract
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder. View Abstract
PreMode predicts mode-of-action of missense variants by deep graph representation learning of protein sequence and structural context. View Abstract
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. View Abstract
Motor difficulties in 16p11.2 copy number variation. View Abstract
GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts. View Abstract
Views of Genetic Testing for Autism Among Autism Self-Advocates: A Qualitative Study. View Abstract
An Opportunity to Fill a Gap for Newborn Screening of Neurodevelopmental Disorders. View Abstract
Pilot study of a decision aid on BRCA1/2 genetic testing among Orthodox Jewish women. View Abstract
Risk factors affecting polygenic score performance across diverse cohorts. View Abstract
Improvement of variant reclassification in genetic neurodevelopmental conditions. View Abstract
Impact of a Genetic Diagnosis for a Child's Autism on Parental Perceptions. View Abstract
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. View Abstract
Evidence-based recruitment strategies for clinical research: Study personnel's and research participants' perceptions about successful methods of outreach for a U.S. Autism-Research Cohort. View Abstract
Characterizing ambulatory function in children with PPP2R5D-related neurodevelopmental disorder. View Abstract
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma. View Abstract
Automated Identification of Germline de novo Mutations in Family Trios: A Consensus-Based Informatic Approach. View Abstract
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features. View Abstract
The clinical geneticist workforce: Community forums to address challenges and opportunities. View Abstract
SPARKing New Insight Into Autism Across the Lifespan. View Abstract
Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype. View Abstract
Return of polygenic risk scores in research: Stakeholders' views on the eMERGE-IV study. View Abstract
Understanding Social, Cultural, and Religious Factors Influencing Medical Decision-Making on BRCA1/2 Genetic Testing in the Orthodox Jewish Community. View Abstract
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations. View Abstract
Differences in polygenic score distributions in European ancestry populations: implications for breast cancer risk prediction. View Abstract
Validation of a modified version of the gross motor function measure in PPPR5D related neurodevelopmental disorder. View Abstract
Childhood physical activity and pubertal timing: findings from the LEGACY girls study. View Abstract
Rescuing lung development through embryonic inhibition of histone acetylation. View Abstract
Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder. View Abstract
Participant-guided development of bilingual genomic educational infographics for Electronic Medical Records and Genomics Phase IV study. View Abstract
Urinary Androgens Provide Additional Evidence Related to Metabolism and Are Correlated With Serum Androgens in Girls. View Abstract
Health supervision for children and adolescents with 16p11.2 deletion syndrome. View Abstract
Germline and Somatic Mutations in DNA Methyltransferase 3A (DNMT3A) Predispose to Pulmonary Arterial Hypertension (PAH) in Humans and Mice: Implications for Associated PAH. View Abstract
Impact of Receiving Genetic Diagnoses on Parents' Perceptions of Their Children with Autism and Intellectual Disability. View Abstract
Cancer genetic mutation prevalence in sub-Saharan Africa: A review of existing data. View Abstract
B56d long-disordered arms form a dynamic PP2A regulation interface coupled with global allostery and Jordan's syndrome mutations. View Abstract
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome. View Abstract
Parents' views of benefits and limitations of receiving genetic diagnoses for their offspring. View Abstract
Effectiveness of multimodal participant recruitment in SPARK, a large, online longitudinal research study of autism. View Abstract
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder. View Abstract
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. View Abstract
Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease. View Abstract
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity. View Abstract
Association of genetic and sulcal traits with executive function in congenital heart disease. View Abstract
Phenotype-Driven Molecular Genetic Test Recommendation for Diagnosing Pediatric Rare Disorders. View Abstract
A novel RNF125 variant associated with Tenorio syndrome alters ubiquitin chain binding. View Abstract
Clinical phenotypes of individuals with Chung-Jansen syndrome across age groups. View Abstract
Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing. View Abstract
Rare predicted loss of function alleles in Bassoon (BSN) are associated with obesity. View Abstract
Receiving de novo genetic diagnoses for autism with intellectual disability: parents' views of impacts on families' reproductive decisions. View Abstract
Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease. View Abstract
Recent Advances in the Genetic Pathogenesis, Diagnosis, and Management of Esophageal Atresia and Tracheoesophageal Fistula: A Review. View Abstract
Genetic and clinical variables act synergistically to impact neurodevelopmental outcomes in children with single ventricle heart disease. View Abstract
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects. View Abstract
Uncovering key clinical trial features influencing recruitment. View Abstract
Caregiver-reported dental manifestations in individuals with genetic neurodevelopmental disorders. View Abstract
Uptake of Genetic Research Results and Patient-Reported Outcomes With Return of Results Incorporating Web-Based Predisclosure Education. View Abstract
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis. View Abstract
Federated Learning: A Cross-Institutional Feasibility Study of Deep Learning Based Intracranial Tumor Delineation Framework for Stereotactic Radiosurgery. View Abstract
Artificial intelligence and the impact on medical genetics. View Abstract
Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease. View Abstract
Environmental carcinogens disproportionally mutate genes implicated in neurodevelopmental disorders. View Abstract
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. View Abstract
A deep intronic DLG4 variant resulting in DLG4-related synaptopathy. View Abstract
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays. View Abstract
Factors influencing creatine kinase-MM concentrations in newborns and implications for newborn screening for Duchenne muscular dystrophy. View Abstract
Clinical features of PPP2 syndrome type R5D (Jordan's syndrome) to support standardization of care. View Abstract
Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease. View Abstract
Knowledge and beliefs about epilepsy genetics among Hispanic and non-Hispanic patients. View Abstract
Defining the clinical validity of genes reported to cause pulmonary arterial hypertension. View Abstract
Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival. View Abstract
Phenotypic effects of genetic variants associated with autism. View Abstract
Newborn screening for Duchenne muscular dystrophy: A two-year pilot study. View Abstract
ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG). View Abstract
Studying the impact of translational genomic research: Lessons from eMERGE. View Abstract
Association of antiseizure medication adherence with illness perceptions in adults with epilepsy. View Abstract
Cardiac imaging and biomarkers for assessing myocardial fibrosis in children with hypertrophic cardiomyopathy. View Abstract
Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations. View Abstract
Congenital Heart Disease with Congenital Diaphragmatic Hernia: Surgical Decision Making and Outcomes. View Abstract
Response to Beretich and Beretich. View Abstract
Deoxyhypusine synthase mutations alter the post-translational modification of eukaryotic initiation factor 5A resulting in impaired human and mouse neural homeostasis. View Abstract
Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss. View Abstract
Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease. View Abstract
A metadata framework for computational phenotypes. View Abstract
ARF1-related disorder: phenotypic and molecular spectrum. View Abstract
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2. View Abstract
Design and Rationale the SCAN-MP (Screening for Cardiac Amyloidosis With Nuclear Imaging in Minority Populations) Study. View Abstract
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder. View Abstract
Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes. View Abstract
Extended regulation interface coupled to the allosteric network and disease mutations in the PP2A-B56d holoenzyme. View Abstract
Molecular Function and Contribution of TBX4 in Development and Disease. View Abstract
Cases in Precision Medicine: Is There an Obligation to Return Reinterpreted Genetic Results to Former Patients? View Abstract
FOXP1 Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia. View Abstract
Individualized interventions for rare genetic conditions and the research-treatment spectrum: Stakeholder perspectives. View Abstract
Genetic Ablation of GIGYF1, Associated With Autism, Causes Behavioral and Neurodevelopmental Defects in Zebrafish and Mice. View Abstract
Engineered cardiac tissue model of restrictive cardiomyopathy for drug discovery. View Abstract
Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model. View Abstract
Association of Predicted Damaging De Novo Variants on Ventricular Function in Individuals With Congenital Heart Disease. View Abstract
Predicted loss of function alleles in Bassoon (BSN) are associated with obesity. View Abstract
Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH. View Abstract
Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results. View Abstract
Patterns of developmental regression and associated clinical characteristics in SLC6A1-related disorder. View Abstract
Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study. View Abstract
Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites. View Abstract
Maternal and prenatal factors and age at thelarche in the LEGACY Girls Study cohort: implications for breast cancer risk. View Abstract
Practical considerations for reinterpretation of individual genetic variants. View Abstract
Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry. View Abstract
The evolving role of medical geneticists in the era of gene therapy: An urgency to prepare. View Abstract
SHINE: protein language model-based pathogenicity prediction for short inframe insertion and deletion variants. View Abstract
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes. View Abstract
Returning integrated genomic risk and clinical recommendations: The eMERGE study. View Abstract
Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease. View Abstract
First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease. View Abstract
Development of Competency-based Online Genomic Medicine Training (COGENT). View Abstract
Outcomes of Returning Medically Actionable Genomic Results in Pediatric Research. View Abstract
Predicting functional effect of missense variants using graph attention neural networks. View Abstract
Deep learning for rare disease: A scoping review. View Abstract
RNA interference (RNAi)-based therapeutics for treatment of rare neurologic diseases. View Abstract
Body mass index rebound and pubertal timing in girls with and without a family history of breast cancer: the LEGACY girls study. View Abstract
Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis. View Abstract
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers. View Abstract
Newborn screening for Duchenne muscular dystrophy-early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy. View Abstract
Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot. View Abstract
Diverse Parental Perspectives of the Social and Educational Needs for Expanding Newborn Screening through Genomic Sequencing. View Abstract
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants. View Abstract
OARD: Open annotations for rare diseases and their phenotypes based on real-world data. View Abstract
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes. View Abstract
Clinical Characteristics and Transplant-Free Survival Across the Spectrum of Pulmonary Vascular Disease. View Abstract
Pathogenic variants in arteriopathy genes detected in a targeted sequencing study: Penetrance and 1-year outcomes after return of results. View Abstract
Expanding the phenotypic spectrum of COLEC10-Related 3MC syndrome: A glimpse into COLEC10-Related 3MC syndrome in the Ashkenazi Jewish population. View Abstract
Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region. View Abstract
Reduced calcium levels and accumulation of abnormal insulin granules in stem cell models of HNF1A deficiency. View Abstract
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data. View Abstract
PHIP variants associated with Chung-Jansen syndrome disrupt replication fork stability and genome integrity. View Abstract
Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder. View Abstract
Newborn screening for neurodevelopmental diseases: Are we there yet? View Abstract
SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice. View Abstract
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. View Abstract
Reproduction and genetic causal attribution of epilepsy. View Abstract
Women's thoughts on receiving and sharing genetic information: Considerations for genetic counseling. View Abstract
Patient and Clinician Decision Support to Increase Genetic Counseling for Hereditary Breast and Ovarian Cancer Syndrome in Primary Care: A Cluster Randomized Clinical Trial. View Abstract
Mother and Daughter Perspectives on Genetic Counseling and Testing of Adolescents for Hereditary Breast Cancer Risk. View Abstract
Challenges of variant reinterpretation: Opinions of stakeholders and need for guidelines. View Abstract
Erratum: Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas. View Abstract
Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications. View Abstract
Recent advances in understanding neuro. View Abstract
Clinical and genetic characterization of CACNA1A-related disease. View Abstract
ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG). View Abstract
Genome-wide polygenic score to predict chronic kidney disease across ancestries. View Abstract
Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disorders. View Abstract
Rare pathogenic variants in WNK3 cause X-linked intellectual disability. View Abstract
Challenges and potential solutions to health disparities in genomic medicine. View Abstract
Is there a way to reduce the inequity in variant interpretation on the basis of ancestry? View Abstract
Congenital diaphragmatic hernia. View Abstract
Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases. View Abstract
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders. View Abstract
Information is power: The experiences, attitudes and needs of individuals who chose to have prenatal genomic sequencing for fetal anomalies. View Abstract
Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk. View Abstract
The Challenge of Genetic Variants of Uncertain Clinical Significance : A Narrative Review. View Abstract
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12. View Abstract
Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas. View Abstract
El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype. View Abstract
Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk. View Abstract
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. View Abstract
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families. View Abstract
Improving Recruitment for a Newborn Screening Pilot Study with Adaptations in Response to the COVID-19 Pandemic. View Abstract
Characterization of phenotypic range in DYRK1A haploinsufficiency syndrome using standardized behavioral measures. View Abstract
Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures. View Abstract
Weight is More Informative than Body Mass Index for Predicting Postmenopausal Breast Cancer Risk: Prospective Family Study Cohort (ProF-SC). View Abstract
The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network. View Abstract
Generation of three induced pluripotent stem cells lines from patients with esophageal atresia/tracheoesophageal fistula type C. View Abstract
Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity. View Abstract
Correction to: Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension. View Abstract
Channelopathy Genes in Pulmonary Arterial Hypertension. View Abstract
Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants. View Abstract
Genetics dictating therapeutic decisions in pediatric pulmonary hypertension? A case report suggesting we are getting closer. View Abstract
Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring. View Abstract
Polygenic risk modeling for prediction of epithelial ovarian cancer risk. View Abstract
The genetic architecture of pediatric cardiomyopathy. View Abstract
Extracorporeal Membrane Oxygenation (ECMO) and its complications in newborns with congenital diaphragmatic hernia. View Abstract
Neurogenetic disorders across the lifespan: from aberrant development to degeneration. View Abstract
Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study. View Abstract
Genetic Diagnostic Strategies and Counseling for Families Affected by Congenital Diaphragmatic Hernia. View Abstract
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. View Abstract
Recreational Physical Activity and Outcomes After Breast Cancer in Women at High Familial Risk. View Abstract
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability. View Abstract
Powerful gene-based testing by integrating long-range chromatin interactions and knockoff genotypes. View Abstract
Cross-sectional, quantitative analysis of motor function in females with HNRNPH2-related disorder. View Abstract
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects. View Abstract
Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation. View Abstract
Association Between Genetic Testing for Hereditary Breast Cancer and Contralateral Prophylactic Mastectomy Among Multiethnic Women Diagnosed With Early-Stage Breast Cancer. View Abstract
Neurodevelopmental profile of HIVEP2-related disorder. View Abstract
Do research participants share genomic screening results with family members? View Abstract
Imputing cognitive impairment in SPARK, a large autism cohort. View Abstract
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. View Abstract
Biodistribution of onasemnogene abeparvovec DNA, mRNA and SMN protein in human tissue. View Abstract
Reimbursement for genetic variant reinterpretation: five questions payers should ask. View Abstract
A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion. View Abstract
Bi-allelic PAGR1 variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two families. View Abstract
Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene. View Abstract
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes. View Abstract
Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality. View Abstract
Gene expression atlas of energy balance brain regions. View Abstract
Neuropathological Findings in a Case of Parkinsonism and Developmental Delay Associated with a Monoallelic Variant in PLXNA1. View Abstract
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families. View Abstract
EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence. View Abstract
Generalizability of Polygenic Risk Scores for Breast Cancer Among Women With European, African, and Latinx Ancestry. View Abstract
Harnessing rare variants in neuropsychiatric and neurodevelopment disorders-a Keystone Symposia report. View Abstract
Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1. View Abstract
Correction to: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG). View Abstract
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders. View Abstract
The Irradiated Brain Volume Within 12 Gy Is a Predictor for Radiation-Induced Changes After Stereotactic Radiosurgery in Patients With Unruptured Cerebral Arteriovenous Malformations. View Abstract
Clinical and genomic characterization of 8p cytogenomic disorders. View Abstract
Post-translational formation of hypusine in eIF5A: implications in human neurodevelopment. View Abstract
Neptune: an environment for the delivery of genomic medicine. View Abstract
Impact of Genetic Testing for Cardiomyopathy on Emotional Well-Being and Family Dynamics: A Study of Parents and Adolescents. View Abstract
Case Report: Esophageal Bronchus in a Neonate, With Image, Histological, and Molecular Analysis. View Abstract
Correction to: Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH. View Abstract
Correction: The psychiatric phenotypes of 1q21 distal deletion and duplication. View Abstract
The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant. View Abstract
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy. View Abstract
Comparing 5-Year and Lifetime Risks of Breast Cancer using the Prospective Family Study Cohort. View Abstract
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies. View Abstract
UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly. View Abstract
Developmental basis of trachea-esophageal birth defects. View Abstract
ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG). View Abstract
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG). View Abstract
Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1. View Abstract
Questioning the validity of clinically available breast cancer polygenic risk scores: comparison of two labs reveals discrepancies. View Abstract
Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers. View Abstract
Genomic medicine implementation protocols in the PhenX Toolkit: tools for standardized data collection. View Abstract
Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH. View Abstract
Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network. View Abstract
Practice Patterns After Return of Rare Variants Associated With Cardiomyopathy in the Electronic Medical Records and Genomics Network. View Abstract
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. View Abstract
Common Childhood Viruses and Pubertal Timing: The LEGACY Girls Study. View Abstract
Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). View Abstract
Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study. View Abstract
Frequency and characterization of mutations in genes in a large cohort of patients referred to MODY registry. View Abstract
Availability of Services and Caregiver Burden: Supporting Individuals With Neurogenetic Conditions During the COVID-19 Pandemic. View Abstract
Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease. View Abstract
Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. View Abstract
Response to Li and Hopper. View Abstract
16p11.2 deletion syndrome. View Abstract
An electronic health record (EHR) log analysis shows limited clinician engagement with unsolicited genetic test results. View Abstract
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers. View Abstract
Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency. View Abstract
Early Pandemic Experiences of Autistic Adults: Predictors of Psychological Distress. View Abstract
The psychiatric phenotypes of 1q21 distal deletion and duplication. View Abstract
Prepubertal Internalizing Symptoms and Timing of Puberty Onset in Girls. View Abstract
Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder. View Abstract
Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder. View Abstract
MVP predicts the pathogenicity of missense variants by deep learning. View Abstract
A disorder-related variant (E420K) of a PP2A-regulatory subunit (PPP2R5D) causes constitutively active AKT-mTOR signaling and uncoordinated cell growth. View Abstract
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype. View Abstract
Does the law require reinterpretation and return of revised genomic results? View Abstract
Weight-loss response to naltrexone/bupropion is modulated by the Taq1A genetic variant near DRD2 (rs1800497): A pilot study. View Abstract
NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity. View Abstract
Brief Report: Impact of COVID-19 on Individuals with ASD and Their Caregivers: A Perspective from the SPARK Cohort. View Abstract
A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants. View Abstract
GeneLiFT: A novel test to facilitate rapid screening of genetic literacy in a diverse population undergoing genetic testing. View Abstract
Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension. View Abstract
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. View Abstract
Oral manifestations of COVID-2019-related multisystem inflammatory syndrome in children: a review of 47 pediatric patients. View Abstract
Returning negative results from large-scale genomic screening: Experiences from the eMERGE III network. View Abstract
Common germline-somatic variant interactions in advanced urothelial cancer. View Abstract
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients. View Abstract
Cases in Precision Medicine: The Role of Polygenic Risk Scores in Breast Cancer Risk Assessment. View Abstract
PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations. View Abstract
Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles. View Abstract
Reply to "PPP2R5D Genetic Mutations and Early Onset Parkinsonism". View Abstract
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism. View Abstract
Role of Aberrant Spontaneous Neurotransmission in SNAP25-Associated Encephalopathies. View Abstract
Monogenic variants in dystonia: an exome-wide sequencing study. View Abstract
Efficacy and safety of setmelanotide, an MC4R agonist, in individuals with severe obesity due to LEPR or POMC deficiency: single-arm, open-label, multicentre, phase 3 trials. View Abstract
Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities. View Abstract
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction. View Abstract
Human iPSC-Derived Neuronal Cells From CTBP1-Mutated Patients Reveal Altered Expression of Neurodevelopmental Gene Networks. View Abstract
Circulating growth factor concentrations and breast cancer risk: a nested case-control study of IGF-1, IGFBP-3, and breast cancer in a family-based cohort. View Abstract
Exome sequencing and characterization of 49,960 individuals in the UK Biobank. View Abstract
Genetics and Genomics of Pediatric Pulmonary Arterial Hypertension. View Abstract
GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm. View Abstract
Impact of Coronavirus Disease 2019 (COVID-19) on Patients With Congenital Heart Disease Across the Lifespan: The Experience of an Academic Congenital Heart Disease Center in New York City. View Abstract
Psychiatric and Medical Profiles of Autistic Adults in the SPARK Cohort. View Abstract
Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. View Abstract
The Steroid Metabolome and Breast Cancer Risk in Women with a Family History of Breast Cancer: The Novel Role of Adrenal Androgens and Glucocorticoids. View Abstract
Influence of pubertal development on urinary oxidative stress biomarkers in adolescent girls in the New York LEGACY cohort. View Abstract
Genetic Variant Reinterpretation: Economic and Population Health Management Challenges. View Abstract
Response to Faulkner et al. View Abstract
Precision medicine in diabetes: a Consensus Report from the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD). View Abstract
Genetic Basis of Human Congenital Heart Disease. View Abstract
United States Pulmonary Hypertension Scientific Registry: Baseline Characteristics. View Abstract
Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias. View Abstract
A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function. View Abstract
Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation. View Abstract
Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk. View Abstract
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. View Abstract
Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). View Abstract
Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes. View Abstract
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum. View Abstract
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A). View Abstract
Participant choices for return of genomic results in the eMERGE Network. View Abstract
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants. View Abstract
Language characterization in 16p11.2 deletion and duplication syndromes. View Abstract
Novel candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing. View Abstract
Precision Medicine in Diabetes: A Consensus Report From the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD). View Abstract
De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease. View Abstract
Genomic analyses implicate noncoding de novo variants in congenital heart disease. View Abstract
Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers. View Abstract
SARS-CoV-2 Infection in Patients with Down Syndrome, Congenital Heart Disease, and Pulmonary Hypertension: Is Down Syndrome a Risk Factor? View Abstract
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy. View Abstract
Pediatric genetics: rare is common. View Abstract
COVID-19's Impact on Genetics at One Medical Center in New York. View Abstract
Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses. View Abstract
Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy. View Abstract
Repeated gamma knife radiosurgery enables longer tumor control in cases of highly-recurrent intracranial ependymoma. View Abstract
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. View Abstract
Choices, attitudes, and experiences of genetic screening in Latino/a and Ashkenazi Jewish individuals. View Abstract
The polygenic architecture of left ventricular mass mirrors the clinical epidemiology. View Abstract
Insufficient Evidence for "Autism-Specific" Genes. View Abstract
EM-mosaic detects mosaic point mutations that contribute to congenital heart disease. View Abstract
Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network. View Abstract
A framework for an evidence-based gene list relevant to autism spectrum disorder. View Abstract
A qualitative study of Latinx parents' experiences of clinical exome sequencing. View Abstract
Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects. View Abstract
Differences in brain structure and function in children with the FTO obesity-risk allele. View Abstract
Considerations When Using Breast Cancer Risk Models for Women with Negative BRCA1/BRCA2 Mutation Results. View Abstract
Rapid exome sequencing in PICU patients with new-onset metabolic or neurological disorders. View Abstract
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures. View Abstract
Novel Mutations and Decreased Expression of the Epigenetic Regulator TET2 in Pulmonary Arterial Hypertension. View Abstract
Development of a Genomic Data Flow Framework: Results of a Survey Administered to NIH-NHGRI IGNITE and eMERGE Consortia Participants. View Abstract
User engagement with web-based genomics education videos and implications for designing scalable patient education materials. View Abstract
Transcriptome-wide association study of breast cancer risk by estrogen-receptor status. View Abstract
Correction to: Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers. View Abstract
De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype. View Abstract
Genetics and Other Omics in Pediatric Pulmonary Arterial Hypertension. View Abstract
Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers. View Abstract
Genes that drive the pathobiology of pediatric pulmonary arterial hypertension. View Abstract
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes. View Abstract
Can Clinical Genetics Laboratories be Sued for Medical Malpractice? View Abstract
The genetics of isolated congenital heart disease. View Abstract
VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation. View Abstract
Developing effective and efficient genomic educational tools for our diverse population. View Abstract
Alcohol consumption, cigarette smoking, and familial breast cancer risk: findings from the Prospective Family Study Cohort (ProF-SC). View Abstract
Abnormal Auditory Mismatch Fields in Children and Adolescents With 16p11.2 Deletion and 16p11.2 Duplication. View Abstract
Psychotic symptoms in 16p11.2 copy-number variant carriers. View Abstract
Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension. View Abstract
Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness. View Abstract
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer. View Abstract
Genomic Information for Clinicians in the Electronic Health Record: Lessons Learned From the Clinical Genome Resource Project and the Electronic Medical Records and Genomics Network. View Abstract
Comparative outcomes of right versus left congenital diaphragmatic hernia: A multicenter analysis. View Abstract
Cases in Precision Medicine: The Role of Tumor and Germline Genetic Testing in Breast Cancer Management. View Abstract
De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes. View Abstract
Is there a duty to reinterpret genetic data? The ethical dimensions. View Abstract
Functional Consequences of the SCN5A-p.Y1977N Mutation within the PY Ubiquitylation Motif: Discrepancy between HEK293 Cells and Transgenic Mice. View Abstract
Genetic attribution and perceived impact of epilepsy in multiplex epilepsy families. View Abstract
Recreational Physical Activity Is Associated with Reduced Breast Cancer Risk in Adult Women at High Risk for Breast Cancer: A Cohort Study of Women Selected for Familial and Genetic Risk. View Abstract
Correction: Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study. View Abstract
Familial X-Linked Acrogigantism: Postnatal Outcomes and Tumor Pathology in a Prenatally Diagnosed Infant and His Mother. View Abstract
Cases in Precision Medicine: Should You Participate in a Study Involving Genomic Sequencing of Your Patients? View Abstract
Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder. View Abstract
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. View Abstract
Impact of patient education videos on genetic counseling outcomes after exome sequencing. View Abstract
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes. View Abstract
Clinical and genetic characterization of individuals with predicted deleterious PHIP variants. View Abstract
The influence of genetics in congenital diaphragmatic hernia. View Abstract
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. View Abstract
Applying Deep Neural Network Analysis to High-Content Image-Based Assays. View Abstract
Sensorimotor Cortical Oscillations during Movement Preparation in 16p11.2 Deletion Carriers. View Abstract
Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility. View Abstract
Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers. View Abstract
Psychological outcomes related to exome and genome sequencing result disclosure: a meta-analysis of seven Clinical Sequencing Exploratory Research (CSER) Consortium studies. View Abstract
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. View Abstract
Understanding Factors Associated with Uptake of BRCA1/2 Genetic Testing among Orthodox Jewish Women in the USA Using a Mixed-Methods Approach. View Abstract
Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay. View Abstract
The FTO Gene and Measured Food Intake in 5- to 10-Year-Old Children Without Obesity. View Abstract
Cases in Precision Medicine: The Role of Pharmacogenetics in Precision Prescribing. View Abstract
Cases in Precision Medicine: Genetic Assessment After a Sudden Cardiac Death in the Family. View Abstract
Cases in Precision Medicine: When Patients Present With Direct-to-Consumer Genetic Test Results. View Abstract
Precision Medicine in Internal Medicine. View Abstract
A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity. View Abstract
Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG). View Abstract
Regular use of aspirin and other non-steroidal anti-inflammatory drugs and breast cancer risk for women at familial or genetic risk: a cohort study. View Abstract
Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer. View Abstract
Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study. View Abstract
Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study. View Abstract
United States Pulmonary Hypertension Scientific Registry (USPHSR): rationale, design, and clinical implications. View Abstract
Identification of a secondary RET mutation in a pediatric patient with relapsed acute myeloid leukemia leads to the diagnosis and treatment of asymptomatic metastatic medullary thyroid cancer in a parent: a case for sequencing the germline. View Abstract
Rethinking the "open future" argument against predictive genetic testing of children. View Abstract
Correction: Psychiatric disorders in children with 16p11.2 deletion and duplication. View Abstract
Risk-Reducing Oophorectomy and Breast Cancer Risk Across the Spectrum of Familial Risk. View Abstract
Response to Wang et al. View Abstract
10-year performance of four models of breast cancer risk: a validation study. View Abstract
SMPD1 mutations, activity, and a-synuclein accumulation in Parkinson's disease. View Abstract
Benign breast disease increases breast cancer risk independent of underlying familial risk profile: Findings from a Prospective Family Study Cohort. View Abstract
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment. View Abstract
A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR. View Abstract
Association of Prepubertal and Adolescent Androgen Concentrations With Timing of Breast Development and Family History of Breast Cancer. View Abstract
A newly identified mutation in the PEX26 gene is associated with a milder form of Zellweger spectrum disorder. View Abstract
Genetics and genomics of pulmonary arterial hypertension. View Abstract
Intervening Nidal Brain Parenchyma and Risk of Radiation-Induced Changes After Radiosurgery for Brain Arteriovenous Malformation: A Study Using an Unsupervised Machine Learning Algorithm. View Abstract
Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). View Abstract
Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder. View Abstract
Psychiatric disorders in children with 16p11.2 deletion and duplication. View Abstract
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway. View Abstract
Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients. View Abstract
Detecting potential pleiotropy across cardiovascular and neurological diseases using univariate, bivariate, and multivariate methods on 43,870 individuals from the eMERGE network. View Abstract
Response to Evans et al. View Abstract
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders. View Abstract
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features. View Abstract
A novel method to determine the natural course of unruptured brain arteriovenous malformations without the need for follow-up information. View Abstract
The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing. View Abstract
Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association. View Abstract
Fully automated tissue segmentation of the prescription isodose region delineated through the Gamma knife plan for cerebral arteriovenous malformation (AVM) using fuzzy C-means (FCM) clustering. View Abstract
Age-specific breast cancer risk by body mass index and familial risk: prospective family study cohort (ProF-SC). View Abstract
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features. View Abstract
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis. View Abstract
Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension. View Abstract
Biallelic variants in VARS in a family with two siblings with intellectual disability and microcephaly: case report and review of the literature. View Abstract
Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants. View Abstract
Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations. View Abstract
Increasing genomic literacy among adolescents. View Abstract
Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant. View Abstract
Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience. View Abstract
Stereotactic radiosurgery for hypervascular intracranial tumors. View Abstract
Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN. View Abstract
Parental perceptions of prenatal whole exome sequencing (PPPWES) study. View Abstract
Pulmonary hypertension in patients with 9q34.3 microdeletion-associated Kleefstra syndrome. View Abstract
Laboratory considerations for prenatal genetic testing. View Abstract
Impacts of variants of uncertain significance on parental perceptions of children after prenatal chromosome microarray testing. View Abstract
Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease. View Abstract
Recurrent diffuse lung disease due to surfactant protein C deficiency. View Abstract
Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs. View Abstract
Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function. View Abstract
Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes. View Abstract
Oral Contraceptive Use and Breast Cancer Risk: Retrospective and Prospective Analyses From a BRCA1 and BRCA2 Mutation Carrier Cohort Study. View Abstract
Abnormal Vertical Eye Movements as a Clue for Diagnosis of Niemann-Pick Type C. View Abstract
Increased yield of full GBA sequencing in Ashkenazi Jews with Parkinson's disease. View Abstract
Assessing patient readiness for personalized genomic medicine. View Abstract
Response to ten Broeke et al. View Abstract
Progress in Understanding and Treating SCN2A-Mediated Disorders. View Abstract
Comparison of methods to assess onset of breast development in the LEGACY Girls Study: methodological considerations for studies of breast cancer. View Abstract
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. View Abstract
Breast cancer family history and allele-specific DNA methylation in the legacy girls study. View Abstract
Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults. View Abstract
Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study. View Abstract
Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors. View Abstract
Whole-Genome and Whole-Exome Sequencing in Pediatric Oncology: An Assessment of Parent and Young Adult Patient Knowledge, Attitudes, and Expectations. View Abstract
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. View Abstract
Advances in the Understanding of the Genetic Determinants of Congenital Heart Disease and Their Impact on Clinical Outcomes. View Abstract
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. View Abstract
Robust identification of mosaic variants in congenital heart disease. View Abstract
Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. View Abstract
FTO genotype impacts food intake and corticolimbic activation. View Abstract
Early Stereotactic Radiosurgery for Medically Refractory Trigeminal Neuralgia. View Abstract
The Congenital Heart Disease Genetic Network Study: Cohort description. View Abstract
MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer. View Abstract
Lumbar Dorsal Root Ganglion Block as a Prognostic Tool Before Pulsed Radiofrequency: A Randomized, Prospective, and Comparative Study on Cost-Effectiveness. View Abstract
APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. View Abstract
Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience. View Abstract
A definition of gentle ventilation in congenital diaphragmatic hernia: a survey of neonatologists and pediatric surgeons. View Abstract
Examining the Psychosocial Impact of Genetic Testing for Cardiomyopathies. View Abstract
Precision Medicine in Children and Young Adults with Hematologic Malignancies and Blood Disorders: The Columbia University Experience. View Abstract
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. View Abstract
Clinical and genetic characterization of AP4B1-associated SPG47. View Abstract
Impact of Receiving Secondary Results from Genomic Research: A 12-Month Longitudinal Study. View Abstract
De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism. View Abstract
The impact of hereditary cancer gene panels on clinical care and lessons learned. View Abstract
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. View Abstract
PVDOMICS: A Multi-Center Study to Improve Understanding of Pulmonary Vascular Disease Through Phenomics. View Abstract
Pilot study of population-based newborn screening for spinal muscular atrophy in New York state. View Abstract
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. View Abstract
Pediatric Cardiomyopathies. View Abstract
The Impact of Heterozygous KCNK3 Mutations Associated With Pulmonary Arterial Hypertension on Channel Function and Pharmacological Recovery. View Abstract
Navigating the research-clinical interface in genomic medicine: analysis from the CSER Consortium. View Abstract
CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. View Abstract
Congenital diaphragmatic hernias: from genes to mechanisms to therapies. View Abstract
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. View Abstract
Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers. View Abstract
Pubertal development in girls by breast cancer family history: the LEGACY girls cohort. View Abstract
Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects. View Abstract
23andMe Paves the Way for Direct-to-Consumer Genetic Health Risk Tests of Limited Clinical Utility. View Abstract
ACSS2 gene variant associated with cleft lip and palate in two independent Hispanic populations. View Abstract
Phenotype of GABA-transaminase deficiency. View Abstract
Identification and characterization of a novel DGAT1 missense mutation associated with congenital diarrhea. View Abstract
Impact of Panel Gene Testing for Hereditary Breast and Ovarian Cancer on Patients. View Abstract
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. View Abstract
Developmental trajectories for young children with 16p11.2 copy number variation. View Abstract
Pulmonary arterial hypertension: Specialists' knowledge, practices, and attitudes of genetic counseling and genetic testing in the USA. View Abstract
Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia. View Abstract
MC4R-dependent suppression of appetite by bone-derived lipocalin 2. View Abstract
Single-Cell Analysis of SMN Reveals Its Broader Role in Neuromuscular Disease. View Abstract
Differences in Presentation and Outcomes Between Children With Familial Dilated Cardiomyopathy and Children With Idiopathic Dilated Cardiomyopathy: A Report From the Pediatric Cardiomyopathy Registry Study Group. View Abstract
Celiac disease and Down syndrome mortality: a nationwide cohort study. View Abstract
Mutations in BMPR2 are not present in patients with pulmonary hypertension associated with congenital diaphragmatic hernia. View Abstract
iPSC-derived ß cells model diabetes due to glucokinase deficiency. View Abstract
Rapidly progressive mitral valve stenosis in patients with acromelic dysplasia. View Abstract
Self-Reported Questionnaire Detects Family History of Cancer in a Pancreatic Cancer Screening Program. View Abstract
Research Participants' Preferences for Hypothetical Secondary Results from Genomic Research. View Abstract
Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations. View Abstract
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. View Abstract
Childhood acromegaly due to X-linked acrogigantism: long term follow-up. View Abstract
Population-Based Study of Attitudes toward BRCA Genetic Testing among Orthodox Jewish Women. View Abstract
The role of genetics in pulmonary arterial hypertension. View Abstract
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. View Abstract
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories. View Abstract
Characterization of a caveolin-1 mutation associated with both pulmonary arterial hypertension and congenital generalized lipodystrophy. View Abstract
De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features. View Abstract
Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3. View Abstract
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease. View Abstract
Loss of RNA expression and allele-specific expression associated with congenital heart disease. View Abstract
Rare variant phasing and haplotypic expression from RNA sequencing with phASER. View Abstract
Depression and genetic causal attribution of epilepsy in multiplex epilepsy families. View Abstract
Deep Genetic Connection Between Cancer and Developmental Disorders. View Abstract
Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females. View Abstract
Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication. View Abstract
16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort. View Abstract
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. View Abstract
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. View Abstract
Hypertrophic cardiomyopathy: New approaches and a time to reappraise older approaches. View Abstract
Comparison of Clinical, Maternal, and Self Pubertal Assessments: Implications for Health Studies. View Abstract
Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects. View Abstract
Partial Duplication and Poly(A) Insertion in KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange-Nielsen Syndrome. View Abstract
Reciprocal white matter alterations due to 16p11.2 chromosomal deletions versus duplications. View Abstract
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. View Abstract
Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder. View Abstract
The LEGACY Girls Study: Growth and Development in the Context of Breast Cancer Family History. View Abstract
Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. View Abstract
Von Hippel-Lindau Disease: Genetics and Role of Genetic Counseling in a Multiple Neoplasia Syndrome. View Abstract
A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects. View Abstract
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features. View Abstract
Report of the National Heart, Lung, and Blood Institute Working Group: An Integrated Network for Congenital Heart Disease Research. View Abstract
Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features. View Abstract
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. View Abstract
SCARB2 variants and glucocerebrosidase activity in Parkinson's disease. View Abstract
Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. View Abstract
A Quality Improvement Collaborative to Improve Pediatric Primary Care Genetic Services. View Abstract
BMPR2 mutations and survival in pulmonary arterial hypertension: an individual participant data meta-analysis. View Abstract
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. View Abstract
De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features. View Abstract
Cardiothoracic surgical site phaeohyphomycosis caused by Bipolaris mould, multiple US states, 2008-2013: a clinical description. View Abstract
Parents' interest in genetic testing of their offspring in multiplex epilepsy families. View Abstract
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. View Abstract
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. View Abstract
Clinical application of whole-exome sequencing across clinical indications. View Abstract
De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism. View Abstract
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. View Abstract
Pediatric Pulmonary Hypertension: Guidelines From the American Heart Association and American Thoracic Society. View Abstract
Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy. View Abstract
Psychosocial Adjustment in School-age Girls With a Family History of Breast Cancer. View Abstract
Gamma Knife Radiosurgery for Atypical and Anaplastic Meningiomas. View Abstract
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects. View Abstract
De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay. View Abstract
De novo mutations in PURA are associated with hypotonia and developmental delay. View Abstract
De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly. View Abstract
Professionally Responsible Disclosure of Genomic Sequencing Results in Pediatric Practice. View Abstract
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. View Abstract
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss. View Abstract
Genetic causal attribution of epilepsy and its implications for felt stigma. View Abstract
Mutations in ARID2 are associated with intellectual disabilities. View Abstract
Abnormal auditory and language pathways in children with 16p11.2 deletion. View Abstract
Association of a Best-Practice Alert and Prenatal Administration With Tetanus Toxoid, Reduced Diphtheria Toxoid, and Acellular Pertussis Vaccination Rates. View Abstract
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. View Abstract
Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. View Abstract
Cohort Profile: The Breast Cancer Prospective Family Study Cohort (ProF-SC). View Abstract
CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record. View Abstract
Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations. View Abstract
Clinical phenotype of the recurrent 1q21.1 copy-number variant. View Abstract
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination. View Abstract
Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia. View Abstract
Evaluation of the CAV1 gene in clinically, sonographically and histologically proven morphea patients. View Abstract
Second primary breast cancer in BRCA1 and BRCA2 mutation carriers: 10-year cumulative incidence in the Breast Cancer Family Registry. View Abstract
New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding ?-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome). View Abstract
Whole-Exome Sequencing Reveals CLCNKB Mutations in a Case of Sudden Unexpected Infant Death. View Abstract
An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers. View Abstract
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. View Abstract
Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers. View Abstract
Overcoming challenges to meaningful informed consent for whole genome sequencing in pediatric cancer research. View Abstract
Dual optical recordings for action potentials and calcium handling in induced pluripotent stem cell models of cardiac arrhythmias using genetically encoded fluorescent indicators. View Abstract
Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy. View Abstract
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. View Abstract
The association between congenital diaphragmatic hernia and undescended testes. View Abstract
Auditory Evoked M100 Response Latency is Delayed in Children with 16p11.2 Deletion but not 16p11.2 Duplication. View Abstract
Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing. View Abstract
The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions. View Abstract
Association of Researcher Characteristics with Views on Return of Incidental Findings from Genomic Research. View Abstract
Serum endostatin is a genetically determined predictor of survival in pulmonary arterial hypertension. View Abstract
Spectrum of neuropathophysiology in spinal muscular atrophy type I. View Abstract
The authors reply. View Abstract
Researchers' views on informed consent for return of secondary results in genomic research. View Abstract
Gamma Knife surgery for craniopharyngioma: report on a 20-year experience. View Abstract
Adrenergic receptor genotype influences heart failure severity and ß-blocker response in children with dilated cardiomyopathy. View Abstract
Should life insurers have access to genetic test results? View Abstract
When to offer genetic testing for pulmonary arterial hypertension. View Abstract
Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxonin. View Abstract
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. View Abstract
Genetics of pulmonary hypertension. View Abstract
Genetic causes of congenital diaphragmatic hernia. View Abstract
Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. View Abstract
Development of a tiered and binned genetic counseling model for informed consent in the era of multiplex testing for cancer susceptibility. View Abstract
[Genetics and genomics of pulmonary arterial hypertension]. View Abstract
Genetic testing preferences in families containing multiple individuals with epilepsy. View Abstract
Eating in the absence of hunger but not loss of control behaviors are associated with 16p11.2 deletions. View Abstract
Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. View Abstract
Opposing brain differences in 16p11.2 deletion and duplication carriers. View Abstract
Reply: To PMID 23893312. View Abstract
Identifying monogenic diabetes in a pediatric cohort with presumed type 1 diabetes. View Abstract
Observational study of spinal muscular atrophy type I and implications for clinical trials. View Abstract
Catecholaminergic polymorphic ventricular tachycardia in a child with Brugada pattern on ECG: one patient with two diseases? View Abstract
The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations. View Abstract
Psychiatrists' views of the genetic bases of mental disorders and behavioral traits and their use of genetic tests. View Abstract
Views of preimplantation genetic diagnosis among psychiatrists and neurologists. View Abstract
Complex genetics and the etiology of human congenital heart disease. View Abstract
The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population. View Abstract
Models of consent to return of incidental findings in genomic research. View Abstract
The usefulness of whole-exome sequencing in routine clinical practice. View Abstract
Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes. View Abstract
Human subjects protection: an event monitoring committee for research studies of girls from breast cancer families. View Abstract
Return of genomic results to research participants: the floor, the ceiling, and the choices in between. View Abstract
Hypomorphism for RPGRIP1L, a ciliary gene vicinal to the FTO locus, causes increased adiposity in mice. View Abstract
The motor neuron response to SMN1 deficiency in spinal muscular atrophy. View Abstract
Aberrant white matter microstructure in children with 16p11.2 deletions. View Abstract
CANOES: detecting rare copy number variants from whole exome sequencing data. View Abstract
Correlation of DNA methylation levels in blood and saliva DNA in young girls of the LEGACY Girls study. View Abstract
BRCA1 and BRCA2 germline mutations are frequently demonstrated in both high-risk pancreatic cancer screening and pancreatic cancer cohorts. View Abstract
Bitter taste phenotype and body weight predict children's selection of sweet and savory foods at a palatable test-meal. View Abstract
The effect of cardiac genetic testing on psychological well-being and illness perceptions. View Abstract
Pertussis: a persistent cause of morbidity and mortality in young infants. View Abstract
EIF2AK4 mutations in pulmonary capillary hemangiomatosis. View Abstract
Dilated cardiomyopathy due to a phospholamban duplication. View Abstract
The genetic basis of pulmonary arterial hypertension. View Abstract
Quantitative analysis of copy number variants based on real-time LightCycler PCR. View Abstract
Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia. View Abstract
Genetics and genomics of pulmonary arterial hypertension. View Abstract
A novel channelopathy in pulmonary arterial hypertension. View Abstract
ß-cell dysfunction due to increased ER stress in a stem cell model of Wolfram syndrome. View Abstract
Informed consent for return of incidental findings in genomic research. View Abstract
Weight loss after bariatric surgery in morbidly obese adolescents with MC4R mutations. View Abstract
Whole-exome sequencing identifies novel LEPR mutations in individuals with severe early onset obesity. View Abstract
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. View Abstract
Novel association of early onset hepatocellular carcinoma with transaldolase deficiency. View Abstract
Developmental outcomes of children with congenital diaphragmatic hernia: a multicenter prospective study. View Abstract
Processes and factors involved in decisions regarding return of incidental genomic findings in research. View Abstract
Effect of copy number variants on outcomes for infants with single ventricle heart defects. View Abstract
Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability. View Abstract
Defining a comprehensive verotype using electronic health records for personalized medicine. View Abstract
The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease. View Abstract
A human de novo mutation in MYH10 phenocopies the loss of function mutation in mice. View Abstract
Genetic loss of SH2B3 in acute lymphoblastic leukemia. View Abstract
A novel channelopathy in pulmonary arterial hypertension. View Abstract
Return of secondary genomic findings vs patient autonomy: implications for medical care. View Abstract
Incidental findings in the era of whole genome sequencing? View Abstract
Researchers' views on return of incidental genomic research results: qualitative and quantitative findings. View Abstract
Use of genetic tests among neurologists and psychiatrists: knowledge, attitudes, behaviors, and needs for training. View Abstract
iPSC-derived ß cells model diabetes due to glucokinase deficiency. View Abstract
Microcomputed tomography provides high accuracy congenital heart disease diagnosis in neonatal and fetal mice. View Abstract
Knowledge of and interest in genetic results among Parkinson disease patients and caregivers. View Abstract
Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia. View Abstract
A recurrent PDGFRB mutation causes familial infantile myofibromatosis. View Abstract
De novo mutations in histone-modifying genes in congenital heart disease. View Abstract
High prevalence of BRCA1 and BRCA2 germline mutations with loss of heterozygosity in a series of resected pancreatic adenocarcinoma and other neoplastic lesions. View Abstract
CDKL5 and ARX mutations in males with early-onset epilepsy. View Abstract
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. View Abstract
Prompt control of an outbreak caused by extended-spectrum ß-lactamase-producing Klebsiella pneumoniae in a neonatal intensive care unit. View Abstract
SMA-MAP: a plasma protein panel for spinal muscular atrophy. View Abstract
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. View Abstract
Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension. View Abstract
Risk of pancreatic cancer in breast cancer families from the breast cancer family registry. View Abstract
The Congenital Heart Disease Genetic Network Study: rationale, design, and early results. View Abstract
Outcomes of congenital diaphragmatic hernia in the modern era of management. View Abstract
Genetic variants associated with breast cancer risk for Ashkenazi Jewish women with strong family histories but no identifiable BRCA1/2 mutation. View Abstract
Cancer genetic counselor information needs for risk communication: a qualitative evaluation of interview transcripts. View Abstract
Induced pluripotent stem cells used to reveal drug actions in a long QT syndrome family with complex genetics. View Abstract
Views of internists towards uses of PGD. View Abstract
Copy-number disorders are a common cause of congenital kidney malformations. View Abstract
Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia. View Abstract
Effectiveness of a school district closure for pandemic influenza A (H1N1) on acute respiratory illnesses in the community: a natural experiment. View Abstract
Prospective cohort study of spinal muscular atrophy types 2 and 3. View Abstract
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. View Abstract
De novo copy number variants are associated with congenital diaphragmatic hernia. View Abstract
How fast can a choroid plexus papilloma grow? View Abstract
A public resource facilitating clinical use of genomes. View Abstract
Association of candidate genes with nonsyndromic clefts in Honduran and Colombian populations. View Abstract
A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers. View Abstract
Attitudes and practices among internists concerning genetic testing. View Abstract
Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension. View Abstract
Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. View Abstract
Genetic testing for dilated cardiomyopathy in clinical practice. View Abstract
Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers. View Abstract
Common variants in the CD36 gene are associated with oral fat perception, fat preferences, and obesity in African Americans. View Abstract
Glut1 deficiency syndrome and erythrocyte glucose uptake assay. View Abstract
Severe dilated cardiomyopathy in a patient with myotonic dystrophy type 2 and homozygous repeat expansion in ZNF9. View Abstract
Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2. View Abstract
Novel SLC39A4 mutation in acrodermatitis enteropathica. View Abstract
Similarity-based disease risk assessment for personal genomes: proof of concept. View Abstract
An overview of mongenic and syndromic obesities in humans. View Abstract
Clinical and molecular genetic features of hereditary pulmonary arterial hypertension. View Abstract
Validation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and III. View Abstract
Intragenic deletion as a novel type of mutation in Wolman disease. View Abstract
Fat discrimination: a phenotype with potential implications for studying fat intake behaviors and obesity. View Abstract
Association of Allelic Variation in Genes Mediating Aspects of Energy Homeostasis with Weight Gain during Administration of Antipsychotic Drugs (CATIE Study). View Abstract
Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies. View Abstract
Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function. View Abstract
Two Cases of Pulmonary Hypertension Associated with Type III Glycogen Storage Disease. View Abstract
Renin-angiotensin-aldosterone genotype influences ventricular remodeling in infants with single ventricle. View Abstract
A complete deficiency of Hyaluronoglucosaminidase 1 (HYAL1) presenting as familial juvenile idiopathic arthritis. View Abstract
Developments in molecular genetic diagnostics: an update for the pediatric epilepsy specialist. View Abstract
Novel splice mutation in microthalmia-associated transcription factor in Waardenburg Syndrome. View Abstract
Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year. View Abstract
Novel frameshift mutation in Troponin C ( TNNC1) associated with hypertrophic cardiomyopathy and sudden death. View Abstract
Validation of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND). View Abstract
Global DNA methylation levels in girls with and without a family history of breast cancer. View Abstract
Determinants of extracellular matrix remodelling are differentially expressed in paediatric and adult dilated cardiomyopathy. View Abstract
Glut1 deficiency: inheritance pattern determined by haploinsufficiency. View Abstract
Cut-like homeobox 1 (CUX1) regulates expression of the fat mass and obesity-associated and retinitis pigmentosa GTPase regulator-interacting protein-1-like (RPGRIP1L) genes and coordinates leptin receptor signaling. View Abstract
Association of plastin 3 expression with disease severity in spinal muscular atrophy only in postpubertal females. View Abstract
Pancreatic cancer screening in a prospective cohort of high-risk patients: a comprehensive strategy of imaging and genetics. View Abstract
Identifying interdisciplinary research priorities to prevent and treat pediatric obesity in New York City. View Abstract
Enalapril in infants with single ventricle: results of a multicenter randomized trial. View Abstract
Glycogen storage disease type III diagnosis and management guidelines. View Abstract
Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy. View Abstract
Uncovering microdeletions in patients with severe Glut-1 deficiency syndrome using SNP oligonucleotide microarray analysis. View Abstract
The process of deciding about prophylactic surgery for breast and ovarian cancer: Patient questions, uncertainties, and communication. View Abstract
Novel loci interacting epistatically with bone morphogenetic protein receptor 2 cause familial pulmonary arterial hypertension. View Abstract
Sex differences in the effects of inherited bitter thiourea sensitivity on body weight in 4-6-year-old children. View Abstract
Long QT syndrome due to a novel mutation in SCN5A: treatment with ICD placement at 1 month and left cardiac sympathetic denervation at 3 months of age. View Abstract
Genetics and genomics of pulmonary arterial hypertension. View Abstract
Gamma knife radiosurgery for the treatment of recurrent seizures after incomplete anterior temporal lobectomy. View Abstract
Epidemiologic investigation of a 2007 outbreak of Serratia marcescens bloodstream infection in Texas caused by contamination of syringes prefilled with heparin and saline. View Abstract
Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families. View Abstract
Recipient genotype is a predictor of allograft cytokine expression and outcomes after pediatric cardiac transplantation. View Abstract
Polymorphism in the angiotensin II type 1 receptor (AGTR1) is associated with age at diagnosis in pulmonary arterial hypertension. View Abstract
Mild fasting hyperglycemia in children: high rate of glucokinase mutations and some risk of developing type 1 diabetes mellitus. View Abstract
Absence epilepsy in apathetic, a spontaneous mutant mouse lacking the h channel subunit, HCN2. View Abstract
Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations. View Abstract
Considerations regarding the genetics of obesity. View Abstract
Functional consequences of the human leptin receptor (LEPR) Q223R transversion. View Abstract
Oligonucleotide array CGH studies in myeloproliferative neoplasms: comparison with JAK2V617F mutational status and conventional chromosome analysis. View Abstract
Preimplantation genetic diagnosis on in vitro fertilization clinic websites: presentations of risks, benefits and other information. View Abstract
Incidence of aortic root dilatation in pectus excavatum and its association with Marfan syndrome. View Abstract
BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research. View Abstract
Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons. View Abstract
Positional cloning of "Lisch-Like", a candidate modifier of susceptibility to type 2 diabetes in mice. View Abstract
Regulation of Fto/Ftm gene expression in mice and humans. View Abstract
Anticipating issues related to increasing preimplantation genetic diagnosis use: a research agenda. View Abstract
Prenatal diagnosis of congenital lipoid adrenal hyperplasia (CLAH) by estriol amniotic fluid analysis and molecular genetic testing. View Abstract
A novel and lethal de novo LQT-3 mutation in a newborn with distinct molecular pharmacology and therapeutic response. View Abstract
A KCNE2 mutation in a patient with cardiac arrhythmia induced by auditory stimuli and serum electrolyte imbalance. View Abstract
RAAS gene polymorphisms influence progression of pediatric hypertrophic cardiomyopathy. View Abstract
Implementation of genetics to personalize medicine. View Abstract
A novel LQT-3 mutation disrupts an inactivation gate complex with distinct rate-dependent phenotypic consequences. View Abstract
Blood leukocyte microarrays to diagnose systemic onset juvenile idiopathic arthritis and follow the response to IL-1 blockade. View Abstract
Disclosures of Huntington disease risk within families: patterns of decision-making and implications. View Abstract
Role of a founder c.201_202delCT mutation and new phenotypic features of congenital lipoid adrenal hyperplasia in Palestinians. View Abstract
Decision-making about reproductive choices among individuals at-risk for Huntington's disease. View Abstract
Variants of the CFC1 gene in patients with laterality defects associated with congenital cardiac disease. View Abstract
Strong association of de novo copy number mutations with autism. View Abstract
Analysis of GNAS mutations in 60 growth hormone secreting pituitary tumors: correlation with clinical and pathological characteristics and surgical outcome based on highly sensitive GH and IGF-I criteria for remission. View Abstract
Gene expression patterns in blood leukocytes discriminate patients with acute infections. View Abstract
The links between obesity, leptin, and prostate cancer. View Abstract
The mahoganoid mutation (Mgrn1md) improves insulin sensitivity in mice with mutations in the melanocortin signaling pathway independently of effects on adiposity. View Abstract
Analysis of significance patterns identifies ubiquitous and disease-specific gene-expression signatures in patient peripheral blood leukocytes. View Abstract
Alpha-thalassemia major presenting in a term neonate without hydrops. View Abstract
Primary pediatric brain tumors: statistics of Taipei VGH, Taiwan (1975-2004). View Abstract
Molecular physiology of syndromic obesities in humans. View Abstract
A unique case of der(11)t(11;22),-22 arising from 3:1 segregation of a maternal t(11;22) in a family with co-segregation of the translocation and breast cancer. View Abstract
Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia. View Abstract
Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements. View Abstract
Gamma knife surgery for vestibular schwannoma: 10-year experience of 195 cases. View Abstract
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. View Abstract
Fatal infantile neuromuscular presentation of glycogen storage disease type IV. View Abstract
Foamy podocytes. View Abstract
The mouse mahoganoid coat color mutation disrupts a novel C3HC4 RING domain protein. View Abstract
Solid phase capturable dideoxynucleotides for multiplex genotyping using mass spectrometry. View Abstract