Concepedia

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment

Maja Hempel, Kirsten Cremer, Charlotte W. Ockeloen, Klaske D. Lichtenbelt, Johanna C. Herkert, Jonas Denecke, Tobias B. Haack, Alexander M. Zink, Jessica Becker, Eva Wohlleber,

The American Journal of Human Genetics · 2015 · 107 citations · 16 references

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16

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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Large-scale discovery of novel genetic causes of developmental disorders

Nature · 2014 · 1.2K citations · Full text

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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Anita Rauch, Dagmar Wieczorek, Elisabeth Graf et al. · The Lancet · 2012 · 1.1K citations · Full text

, , +16

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

Slavé Petrovski, Quanli Wang, Erin L. Heinzen et al. · PLoS Genetics · 2013 · 993 citations · Full text

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Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B

Sandra Hanks, Kim Coleman, Sarah Reid et al. · Nature Genetics · 2004 · 608 citations

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