Keith Nykamp

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

Keith Nykamp, Michael J. Anderson, Martin P. Powers et al. · Genetics in Medicine · 2017 · 722 citations · Full text

Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation

Yuya Kobayashi, Shan Yang, Keith Nykamp et al. · Genome Medicine · 2017 · 235 citations · Full text

Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype

Stephanie D. Davis, Margaret Rosenfeld, Hye‐Seung Lee et al. · American Journal of Respiratory and Critical Care Medicine · 2018 · 172 citations

Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy

Rebecca Truty, Nila Patil, Raman Sankar et al. · Epilepsia Open · 2019 · 118 citations · Full text

Sources of discordance among germ-line variant classifications in ClinVar

Shan Yang, Stephen E. Lincoln, Yuya Kobayashi et al. · Genetics in Medicine · 2017 · 117 citations · Full text

Genetics, Genetic Epidemiology, Human Polymorphism +20