Concepedia

De novo variants in ATP2B1 lead to neurodevelopmental delay

Meer Jacob Rahimi, Nicole Urban, Meret Wegler, Heinrich Sticht, Michael Schaefer, Bernt Popp, Frank Gaunitz, Manuela Morleo, Vincenzo Nigro, Silvia Maitz,

The American Journal of Human Genetics · 2022 · 24 citations · 27 references

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27

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

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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

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Genome sequencing identifies major causes of severe intellectual disability

Christian Gilissen, Jayne Y. Hehir‐Kwa, Djie Tjwan Thung et al. · Nature · 2014 · 1.1K citations · Full text

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CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores

Philipp Rentzsch, Max Schubach, Jay Shendure et al. · Genome Medicine · 2021 · 676 citations · Full text

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The rules and impact of nonsense-mediated mRNA decay in human cancers

Rik G.H. Lindeboom, Fran Supek, Ben Lehner · Nature Genetics · 2016 · 592 citations

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