Nature Genetics · 2013 · 305 citations · 25 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsNeurogeneticsAutism Spectrum Disorder GeneticsDevelopmental MutationsGenetic DisordersGenetic SyndromesNeurogenetic DisordersRare Disease GeneticsNeurodevelopmental 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
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
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
Prader-Willi Syndrome: Consensus Diagnostic Criteria
Vanja A. Holm, Suzanne B. Cassidy, Merlin G. Butler et al. · PEDIATRICS · 1993 · 1.3K citations · Full text