Karynne Patterson

The contribution of de novo coding mutations to autism spectrum disorder

Ivan Iossifov, Brian J. O’Roak, Stephan Sanders et al. · Nature · 2014 · 2.8K citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

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

Targeted long-read sequencing identifies missing disease-causing variation

Danny E. Miller, Arvis Sulovari, Tianyun Wang et al. · The American Journal of Human Genetics · 2021 · 239 citations · Full text

Life Sciences, Bioinformatics, Genetics +14

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

Stargazer: a software tool for calling star alleles from next-generation sequencing data using CYP2D6 as a model

Seung‐been Lee, Marsha M. Wheeler, Karynne Patterson et al. · Genetics in Medicine · 2018 · 151 citations · Full text

Life Sciences, Bioinformatics, Genetics +12