Concepedia

Genetics of intellectual disability in consanguineous families

Hao Hu, Kimia Kahrizi, Luciana Musante, Zohreh Fattahi, Ralf Herwig, Masoumeh Hosseini, Cornelia Oppitz, Seyedeh Sedigheh Abedini, Vanessa Suckow, Farzaneh Larti,

Molecular Psychiatry · 2018 · 217 citations · 78 references

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78

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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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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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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De Novo Gene Disruptions in Children on the Autistic Spectrum

Ivan Iossifov, Michael Ronemus, Dan Levy et al. · Neuron · 2012 · 1.5K citations · Full text

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A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

Daniel G. MacArthur, Suganthi Balasubramanian, Adam Frankish et al. · Science · 2012 · 1.3K citations · Full text

, , +17