Concepedia

A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative

Vandana Shashi, Kelly Schoch, Rebecca C. Spillmann, Heidi Cope, Queenie K.‐G. Tan, Loren D.M. Peña, Allyn McConkie‐Rosell, Yong‐hui Jiang, Nicholas Stong, Anna C. Need,

Genetics in Medicine · 2018 · 81 citations · 27 references

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27

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

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Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Yaping Yang, Donna M. Muzny, Jeffrey G. Reid et al. · New England Journal of Medicine · 2013 · 2K citations · Full text

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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

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Distribution and intensity of constraint in mammalian genomic sequence

Gregory M. Cooper, Eric A. Stone, George Asimenos et al. · Genome Research · 2005 · 1.4K citations · Full text

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