Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The Human Genome Browser at UCSC

W. James Kent, Charles W. Sugnet, Terrence S. Furey et al. · Genome Research · 2002 · 10.9K citations · Full text

Life Sciences, Bioinformatics, Genetics +9

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · Nature · 2020 · 10.1K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 6.7K citations

Life Sciences, Bioinformatics, Molecular Biology +15

CADD: predicting the deleteriousness of variants throughout the human genome

Philipp Rentzsch, Daniela Witten, Gregory M. Cooper et al. · Nucleic Acids Research · 2018 · 3.9K citations · Full text

Life Sciences, Bioinformatics, Genetics +17