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Author Details

Wendy K Chung
Boston Children's Hospital, Harvard Medical School
1993
694
90
PMIDPaper TitleJournal TitlePublished Year
38054405Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.Genet Med2024
37951597Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.Brain2024
37843780Receiving de novo genetic diagnoses for autism with intellectual disability: parents' views of impacts on families' reproductive decisions.J Community Genet2024
37655712Caregiver-reported dental manifestations in individuals with genetic neurodevelopmental disorders.Int J Paediatr Dent2024
38054405Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.Genet Med2024
37961033Clinical phenotypes of individuals with Chung-Jansen syndrome across age groups.Am J Med Genet A2024
37525972A deep intronic DLG4 variant resulting in DLG4-related synaptopathy.Clin Genet2024
37525972A deep intronic DLG4 variant resulting in DLG4-related synaptopathy.Clin Genet2024
37961033Clinical phenotypes of individuals with Chung-Jansen syndrome across age groups.Am J Med Genet A2024
37951597Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.Brain2024
37655712Caregiver-reported dental manifestations in individuals with genetic neurodevelopmental disorders.Int J Paediatr Dent2024
37843780Receiving de novo genetic diagnoses for autism with intellectual disability: parents' views of impacts on families' reproductive decisions.J Community Genet2024
36216457Clinical, neuroimaging and molecular characteristics of <i>PPP2R5D</i>-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis.J Med Genet2023
36367783Molecular Function and Contribution of <i>TBX4</i> in Development and Disease.Am J Respir Crit Care Med2023
36302552Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH.Eur Respir J2023
36018820Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.Hum Mol Genet2023
36216457Clinical, neuroimaging and molecular characteristics of <i>PPP2R5D</i>-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis.J Med Genet2023
35613015Maternal and prenatal factors and age at thelarche in the LEGACY Girls Study cohort: implications for breast cancer risk.Int J Epidemiol2023
36257857RNA interference (RNAi)-based therapeutics for treatment of rare neurologic diseases.Mol Aspects Med2023
36416152Development of Competency-based Online Genomic Medicine Training (COGENT).Per Med2023
38036523Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.Nat Commun2023
37599994Environmental carcinogens disproportionally mutate genes implicated in neurodevelopmental disorders.Front Neurosci2023
38031187Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.Genome Med2023
37923650[Genetic counselling and testing in pulmonary arterial hypertension - A consensus statement on behalf of the International Consortium for Genetic Studies in PAH - French version].Rev Mal Respir2023
37873300Disrupted endosomal trafficking of the Vangl-Celsr polarity complex underlies congenital anomalies in trachea-esophageal morphogenesis.bioRxiv2023
37611220Uptake of Genetic Research Results and Patient-Reported Outcomes With Return of Results Incorporating Web-Based Predisclosure Education.J Clin Oncol2023
37771007Recent Advances in the Genetic Pathogenesis, Diagnosis, and Management of Esophageal Atresia and Tracheoesophageal Fistula: A Review.J Pediatr Gastroenterol Nutr2023
37479106Factors influencing creatine kinase-MM concentrations in newborns and implications for newborn screening for Duchenne muscular dystrophy.Clin Biochem2023
37417234Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease.Circ Genom Precis Med2023
37347242ACMG 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).Genet Med2023
36972543Cases in Precision Medicine: Is There an Obligation to Return Reinterpreted Genetic Results to Former Patients?Ann Intern Med2023
37343562Studying the impact of translational genomic research: Lessons from eMERGE.Am J Hum Genet2023
37339871Clinical features of PPP2 syndrome type R5D (Jordan's syndrome) to support standardization of care.Cold Spring Harb Mol Case Stud2023
36964709Individualized interventions for rare genetic conditions and the research-treatment spectrum: Stakeholder perspectives.Genet Med2023
37333770Deoxyhypusine synthase mutations alter the post-translational modification of eukaryotic initiation factor 5A resulting in impaired human and mouse neural homeostasis.HGG Adv2023
36895422Patterns of developmental regression and associated clinical characteristics in SLC6A1-related disorder.Front Neurosci2023
36824750Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival.Res Sq2023
37268035Congenital Heart Disease with Congenital Diaphragmatic Hernia: Surgical Decision Making and Outcomes.J Pediatr2023
36575831SHINE: protein language model-based pathogenicity prediction for short inframe insertion and deletion variants.Brief Bioinform2023
36757831The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.Brain2023
37071725Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results.Circ Genom Precis Med2023
36701153Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease.JAMA Netw Open2023
37451831Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel.J Med Genet2023
37066788Design and Rationale the SCAN-MP (Screening for Cardiac Amyloidosis With Nuclear Imaging in Minority Populations) Study.J Am Heart Assoc2023
37066309Extended regulation interface coupled to the allosteric network and disease mutations in the PP2A-B56δ holoenzyme.bioRxiv2023
36748709Practical considerations for reinterpretation of individual genetic variants.Genet Med2023
37315879Cardiac imaging and biomarkers for assessing myocardial fibrosis in children with hypertrophic cardiomyopathy.Am Heart J2023
37315405Association of antiseizure medication adherence with illness perceptions in adults with epilepsy.Epilepsy Behav2023
36866680Association of Predicted Damaging De Novo Variants on Ventricular Function in Individuals With Congenital Heart Disease.Circ Genom Precis Med2023
36803080Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study.Circ Genom Precis Med2023
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Hakon Hakonarson
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Ana Osorio
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Jonathan G Seidman
Harvard Medical School
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Eric D Austin
Vanderbilt University Medical Center
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Georgia Chenevix-Trench
QIMR Berghofer Medical Research Institute
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Noralane M Lindor
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