Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

Nilah M. Ioannidis, Joseph H. Rothstein, Vikas Pejaver et al. · The American Journal of Human Genetics · 2016 · 3K citations · Full text

Life Sciences, Bioinformatics, Genetics +14

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

Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias

Q. Wang, Mark Curran, Igor Splawski et al. · Nature Genetics · 1996 · 1.8K citations

Medicine, Genetics, Molecular Genetics +17

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

Nara Sobreira, François Schiettecatte, David Valle et al. · Human Mutation · 2015 · 1.6K citations · Full text

Life Sciences, Bioinformatics, Genetics +15