Varuna Chander

发表

Abstract 15628: HeartCare: Improving Clinical Practice Through Comprehensive Cardiovascular Genetic Testing

R. Gibbs, E. Boerwinkle, D. Muzny, 2020 .

Clonal hematopoiesis of indeterminate potential, DNA methylation, and risk for coronary artery disease

J. Bressler, M. Fornage, D. Kiel, 2022, Nature Communications.

Long read sequencing and expression studies of AHDC1 deletions in Xia‐Gibbs syndrome reveal a novel genetic regulatory mechanism

David R. Murdock, Michael M. Khayat, J. Lupski, 2022, Human mutation.

Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications

David R. Murdock, R. Gibbs, E. Boerwinkle, 2021, Genetics in Medicine.

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Jeffrey M. Weiss, Ryan L. Collins, Jack M. Fu, 2021, medRxiv.

AHDC1 missense mutations in Xia-Gibbs syndrome

Michael M. Khayat, Michael F. Wangler, J. Rosenfeld, 2021, HGG advances.

Phenotypic expansion in KIF1A‐related dominant disorders: A description of novel variants and review of published cases

Michael M. Khayat, J. Rosenfeld, J. Lupski, 2020, Human mutation.

Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein‐truncating alleles in Xia–Gibbs syndrome

David R. Murdock, Michael M. Khayat, Michael F. Wangler, 2021, Human mutation.

Evaluation of computational genotyping of structural variation for clinical diagnoses

Fritz J Sedlazeck, Richard A Gibbs, Varuna Chander, 2019, GigaScience.

Evaluation of computational genotyping of structural variation for clinical diagnoses

Fritz J. Sedlazeck, Richard A. Gibbs, Varuna Chander, 2019, bioRxiv.