Joseph D. Buxbaum

Functional impact of global rare copy number variation in autism spectrum disorders

Dalila Pinto, Alistair T. Pagnamenta, Lambertus Klei et al. · Nature · 2010 · 2K citations · Full text

Autism Spectrum Disorders, Syndromic Autism, Genetics +4

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

Neurodevelopmental Disorders, Autism Spectrum Disorders, Syndromic Autism +8

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

Stephan Sanders, Xin He, A. Jeremy Willsey et al. · Neuron · 2015 · 1.5K citations · Full text

Genome-wide Association Study, Syndromic Autism, Genetics +6

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

Bjarni J. Vilhjálmsson, Jian Yang, Hilary K. Finucane et al. · The American Journal of Human Genetics · 2015 · 1.5K citations · Full text

Linkage Disequilibrium, Engineering, Polygenic Risk +4

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

Joseph Glessner, Kai Wang, Guiqing Cai et al. · Nature · 2009 · 1.4K citations · Full text