Nature · 2014 · 2.9K citations · 42 references
Life SciencesGeneticsNeuroscienceChromatin BiologyEpigeneticsTranscriptional RegulationAutism Spectrum Disorder GeneticsChromatinMolecular NeurogeneticsNeurodevelopmental DisordersSynaptic GeneticsSynaptogenesisEpigenetic Regulation Of SynapsesSynaptic Gene RegulationSynaptic Plasticity Epigenetics
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A framework for variation discovery and genotyping using next-generation DNA sequencing data
Mark A. DePristo, Eric Banks, Ryan Poplin et al. · Nature Genetics · 2011 · 12.4K citations · Full text
Strong Association of De Novo Copy Number Mutations with Autism
Jonathan Sebat, B. Lakshmi, Dheeraj Malhotra et al. · Science · 2007 · 2.8K citations · Full text
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
FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism
Jennifer C. Darnell, Sarah J. Van Driesche, Chaolin Zhang et al. · Cell · 2011 · 2.1K citations · Full text