Wendy Chung

Kennedy Family Professor

Columbia University Vagelos College of Physicians and Surgeons

United States

Research Interests

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Articles (20)

Year:

2024

Screening newborns using genome sequencing is being explored due to its potential to expand the list of conditions that can be screened. Previously, we proposed the need for large-scale pilot studies to assess the feasibility of screening highly penetrant genetic neurodevelopmental disorders. Here, we discuss the initial experience from the GUARDIAN study and the systemic gaps in clinical services that were identified in the early stages of the pilot study.

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2024

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2023

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2023

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2023

Collaborators (25)

Andrew Sweatt

Clinical Assistant Professor

Stanford University

UNITED STATES

Wendy Chung

Research Interests

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Articles (20)

Views of Genetic Testing for Autism Among Autism Self-Advocates: A Qualitative Study

An Opportunity to Fill a Gap for Newborn Screening of Neurodevelopmental Disorders

Ophthalmic Findings in the KIF1A-Associated Neurologic Disorder (KAND)

Genetics and precision genomics approaches to pulmonary hypertension

Review: Child Psychiatry in the Era of Genomics: The Promise of Translational Genetics Research for the Clinic

Clinical phenotypes of individuals with Chung–Jansen syndrome across age groups

Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations

Parents' views of benefits and limitations of receiving genetic diagnoses for their offspring

Improvement of variant reclassification in genetic neurodevelopmental conditions

Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss

Uptake of Genetic Research Results and Patient-Reported Outcomes With Return of Results Incorporating Web-Based Predisclosure Education

Development of Competency-based Online Genomic Medicine Training (COGENT)

Factors influencing creatine kinase-MM concentrations in newborns and implications for newborn screening for Duchenne muscular dystrophy

Newborn screening for Duchenne muscular dystrophy: A two‐year pilot study

Clinical features of PPP2 syndrome type R5D (Jordan's syndrome) to support standardization of care

Clinical, neuroimaging and molecular characteristics ofPPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype–phenotype analysis

Cases in Precision Medicine: Is There an Obligation to Return Reinterpreted Genetic Results to Former Patients?

Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results

Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH

Impact of Receiving Genetic Diagnoses on Parents’ Perceptions of Their Children with Autism and Intellectual Disability

Collaborators (25)

Andrew Sweatt

Kimberly Foss

Laura Southgate

Rajiv David Machado

Giampietro Schiavo

Laura B. Ramsey

Brian Egleston

Zhe Wang

Philip Empey

Kara Maxwell

Veerle Janssens

Megan Roy-Puckelwartz

Rozenn Quarck

Roelof Smit

Siddharth Prakash

Madison Kilbride

Christina Miyake

Kevin T. A. Booth

Zhanzhi Hu

Eric D. Austin

Charles LeDuc

Paul S. Appelbaum

Catherine Brownstein

Olufunmilayo I. Olopade

Rick F. Nelson

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