Concepedia

Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation

Rebecca Truty, Karen Ouyang, Susan Rojahn, Sarah Garcia, Alexandre Colavin, Barbara Hamlington, Mary E. Freivogel, Robert L. Nussbaum, Keith Nykamp, Swaroop Aradhya

The American Journal of Human Genetics · 2021 · 89 citations · 44 references

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44

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

, , +17

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

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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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The Genotype-Tissue Expression (GTEx) project.

PubMed · 2013 · 10K citations · Full text

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Epigenetic Regulations of GABAergic Neurotransmission: Relevance for Neurological Disorders and Epigenetic Therapy

Shikshya Shrestha, Steven M. Offer · Medical Epigenetics · 2016 · 9K citations · Full text

, , +17