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Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

Gemma L. Carvill, Sinéad B. Heavin, Simone C. Yendle, Jacinta M. McMahon, Brian J. O’Roak, Joseph Cook, Adiba Khan, Michael O. Dorschner, Molly Weaver, Sophie Calvert,

Nature Genetics · 2013 · 694 citations · 36 references

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36

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005–2009

Anne T. Berg, Samuel F. Berkovic, Martin J. Brodie et al. · Epilepsia · 2010 · 4.4K citations

, , +17

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Benjamin M. Neale, Yan Kou, Li Liu et al. · Nature · 2012 · 1.8K citations · Full text

, , +12

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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Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

Brian J. O’Roak, Laura Vives, Wenqing Fu et al. · Science · 2012 · 1.3K 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