Sean McGee

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

Jacob A. Tennessen, Abigail W. Bigham, Timothy D. O’Connor et al. · Science · 2012 · 1.7K citations

Life Sciences, Genetics, Molecular Genetics +17

Genomic data in the All of Us Research Program

Alexander G. Bick, Ginger Metcalf, Kelsey Mayo et al. · Nature · 2024 · 753 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Genome-wide Studies of Copy Number Variation and Exome Sequencing Identify Rare Variants in BAG3 as a Cause of Dilated Cardiomyopathy

Nadine Norton, Duanxiang Li, Mark J. Rieder et al. · The American Journal of Human Genetics · 2011 · 360 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol

Leslie A. Lange, Youna Hu, He Zhang et al. · The American Journal of Human Genetics · 2014 · 217 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

Jessica X. Chong, Margaret J. McMillin, Kathryn M. Shively et al. · The American Journal of Human Genetics · 2015 · 157 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14