Concepedia

Multiplexed Functional Assessment of Genetic Variants in CARD11

Iana Meitlis, Eric J. Allenspach, Bradly M. Bauman, Isabelle Phan, Gina Dabbah, Erica G. Schmitt, Nathan D. Camp, Troy R. Torgerson, Deborah A. Nickerson, Michael J. Bamshad,

The American Journal of Human Genetics · 2020 · 81 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

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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

, , +17

A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher, Daniela Witten, Preti Jain et al. · Nature Genetics · 2014 · 6.6K citations · Full text

, , +15

Comparative Protein Structure Modeling Using Modeller

Narayanan Eswar, Ben Webb, Marc A. Martı́-Renom et al. · Current Protocols in Bioinformatics · 2006 · 4.6K citations · Full text

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Comparative Protein Structure Modeling Using MODELLER

Benjamin Webb, Andrej Šali · Current Protocols in Bioinformatics · 2016 · 4.5K citations · Full text

, , +17