Donald J. Corsmeier

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Catherine A. Brownstein, Alan H. Beggs, Nils Homer et al. · Genome biology · 2014 · 432 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Churchill: an ultra-fast, deterministic, highly scalable and balanced parallelization strategy for the discovery of human genetic variation in clinical and population-scale genomics

Benjamin Kelly, James Fitch, Yangqiu Hu et al. · Genome Biology · 2015 · 143 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth

Nicole R. Bender, Michael T. Zimmermann, Jonathan W. Heusel et al. · Genetics in Medicine · 2021 · 59 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience

Cecelia Miller, Kristy Lee, Ruthann Pfau et al. · Molecular Case Studies · 2020 · 28 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery

David Gordon, David Cunningham, Gloria Zender et al. · PLoS Genetics · 2022 · 21 citations · Full text

Life Sciences, Cardiology, Genetics +17