A novel PAK1 variant causative of neurodevelopmental disorder with postnatal macrocephaly

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

P. Naresh Kumar, Steven Henikoff, Pauline C. Ng · Nature Protocols · 2009 · 6.6K citations

Protein Function, Functional Genomics, Non-synonymous Variants +13

Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2

Ivan Adzhubei, Daniel M. Jordan, Shamil Sunyaev · Current Protocols in Human Genetics · 2013 · 3.7K citations

CADD: predicting the deleteriousness of variants throughout the human genome

Philipp Rentzsch, Daniela Witten, Gregory M. Cooper et al. · Nucleic Acids Research · 2018 · 3.7K citations · Full text

Genetics, Genetic Epidemiology, Genomics +21

A brain serine/threonine protein kinase activated by Cdc42 and Rac1

Edward Manser, Thomas Leung, Harfizah Salihuddin et al. · Nature · 1994 · 1.5K citations

Signal Transduction, Molecular Neuroscience, Molecular Physiology +8

Structure of PAK1 in an Autoinhibited Conformation Reveals a Multistage Activation Switch

Ming Lei, Wange Lu, Wuyi Meng et al. · Cell · 2000 · 544 citations · Full text

Signal Transduction, Biochemistry, Natural Sciences +8