Concepedia
Statistics
Publications
33
Citations
2.4K
H-Index
22
Active since
1998
Affiliations
Invitae (United States)(Current)
University of North Carolina at Chapel Hill
University of California, Los Angeles
University of Toronto
Lung Institute
Keith Nykamp is an author at Invitae (United States) specializing in genetics, life sciences, and medical genetics.
Publications per year
1998–2024
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 · 759 citations · Full text
Life Sciences, Genetics, Molecular Genetics +15
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 · 240 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
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 · 183 citations
Medicine, Pathobiology, Pathology +17
Dual requirement for yeast hnRNP Nab2p in mRNA poly(A) tail length control and nuclear export
Ronald E. Hector, Keith Nykamp, Sonia Dheur et al. · The EMBO Journal · 2002 · 179 citations · Full text
Life Sciences, Genetics, Molecular Biology +17
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 · 123 citations · Full text
Medicine, Genetics, Molecular Genetics +17
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