Concepedia

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

Curtis R. Coughlin, Michael A. Swanson, Kathryn E. Kronquist, Cécile Acquaviva, Tim Hutchin, Pilar Rodríguez‐Pombo, Marja-Leena Väisänen, Elaine Spector, Geralyn Creadon‐Swindell, Ana M. Brás-Goldberg,

Genetics in Medicine · 2016 · 100 citations · 29 references

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29

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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A Comprehensive Analysis of Common Copy-Number Variations in the Human Genome

Kendy K. Y. Wong, Ronald J. deLeeuw, Nirpjit S. Dosanjh et al. · The American Journal of Human Genetics · 2006 · 522 citations · Full text

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Incidence of Inborn Errors of Metabolism in British Columbia, 1969–1996

Derek A. Applegarth, Jennifer R. Toone, RT § and R. Brian Lowry · PEDIATRICS · 2000 · 420 citations

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Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

Peter R. Baker, Marisa W. Friederich, Michael A. Swanson et al. · Brain · 2013 · 223 citations · Full text

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