Kathryn B. Manheimer

Genomic analyses implicate noncoding de novo variants in congenital heart disease

Felix Richter, Sarah U. Morton, Seong Won Kim et al. · Nature Genetics · 2020 · 167 citations · Full text

Variant Interpretation, Genetics, Congenital Heart Defect +7

Dynamic and Stable Cohesins Regulate Synaptonemal Complex Assembly and Chromosome Segregation

Mercedes R. Gyuricza, Kathryn B. Manheimer, Vandana Apte et al. · Current Biology · 2016 · 69 citations · Full text

Chromatin, Chromatin Structure, Chromosome Segregation +8

Robust identification of mosaic variants in congenital heart disease

Kathryn B. Manheimer, Felix Richter, Lisa Edelmann et al. · Human Genetics · 2018 · 56 citations · Full text

Genetics, Genetic Epidemiology, Robust Identification +4

De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease

Marko T. Boskovski, Jason Homsy, Meena Nathan et al. · Circulation Genomic and Precision Medicine · 2020 · 54 citations · Full text

EM-mosaic detects mosaic point mutations that contribute to congenital heart disease

Alexander Hsieh, Sarah U. Morton, Jon A. L. Willcox et al. · Genome Medicine · 2020 · 30 citations · Full text