Nature Communications · 2014 · 121 citations · 48 references
Life SciencesGeneticsMolecular GeneticsAutism Spectrum DisordersNeurogeneticsAutism Spectrum Disorder GeneticsDevelopmental MutationsGenetic DisordersNeurodevelopmental DisordersNeurodevelopmental GeneticsNeurogenetic DisordersDe Novo Mutations In Developmental DisordersNeurodevelopmental Disorder Mutations
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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
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
A forkhead-domain gene is mutated in a severe speech and language disorder
Cecilia Lai, Simon E. Fisher, Jane A. Hurst et al. · Nature · 2001 · 2.1K citations · Full text
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