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De novo mutations in epileptic encephalopathies

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Nature · 2013 · 1.6K citations · 34 references

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References

34

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

Rate of de novo mutations and the importance of father’s age to disease risk

Augustine Kong, Michael L. Frigge, Gísli Másson et al. · Nature · 2012 · 2.3K citations

, , +12

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

Brian J. O’Roak, Laura Vives, Santhosh Girirajan et al. · Nature · 2012 · 2.2K citations · Full text

, , +12

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Stephan Sanders, Michael T. Murtha, Abha R. Gupta et al. · Nature · 2012 · 2.2K citations

, , +12

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