Concepedia

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Sébastien Küry, Thomas Besnard, Frédéric Ebstein, Tahir Naeem Khan, Tomasz Gambin, Jessica Douglas, Carlos A. Bacino, William J. Craigen, Stephan Sanders, Andrea Lehmann,

The American Journal of Human Genetics · 2017 · 110 citations · 46 references

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46

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 contribution of de novo coding mutations to autism spectrum disorder

Ivan Iossifov, Brian J. O’Roak, Stephan Sanders et al. · Nature · 2014 · 2.8K citations · Full text

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DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

Helen V. Firth, Shola M. Richards, A. Paul Bevan et al. · The American Journal of Human Genetics · 2009 · 2.1K 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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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

Joep de Ligt, Marjolein H. Willemsen, Bregje W.M. van Bon et al. · New England Journal of Medicine · 2012 · 1.6K citations · Full text

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