Neuron · 2012 · 1.5K citations · 42 references
Life SciencesGeneticsMolecular GeneticsAutism Spectrum DisordersHuman GeneticsMedical GeneticsAutism Spectrum Disorder GeneticsGenetic DisordersGenetic SyndromesNeurodevelopmental DisordersNeurodevelopmental GeneticsNeurogenetic DisordersDe Novo MutationsDe Novo Mutations In Developmental DisordersGenetic Neurodevelopmental SyndromesNeurodevelopmental Disorder MutationsTargeted Gene Disruption
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Fast and accurate short read alignment with Burrows–Wheeler transform
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Strong Association of De Novo Copy Number Mutations with Autism
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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