Concepedia

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish

Julie C. Van De Weghe, Tamara D. S. Rusterholz, Brooke Latour, Megan E. Grout, Kimberly A. Aldinger, Ranad Shaheen, Jennifer C. Dempsey, Sateesh Maddirevula, Yong-Han Hank Cheng, Ian G. Phelps,

The American Journal of Human Genetics · 2017 · 89 citations · 92 references

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92

Database resources of the National Center for Biotechnology Information: update

David Wheeler · Nucleic Acids Research · 2003 · 11K 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

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The Genotype-Tissue Expression (GTEx) project.

PubMed · 2013 · 10K citations · Full text

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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

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Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

Jacob A. Tennessen, Abigail W. Bigham, Timothy D. O’Connor et al. · Science · 2012 · 1.7K citations

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