Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders

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

Life Sciences, Bioinformatics, Genetics +14

Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders

Catherine Lord, Michael Rutter, Ann Le Couteur · Journal of Autism and Developmental Disorders · 1994 · 9.1K citations

Education, Psychiatry, Psychology +13

The Autism Diagnostic Observation Schedule—Generic: A Standard Measure of Social and Communication Deficits Associated with the Spectrum of Autism

Catherine Lord, Susan Risi, Linda Lambrecht et al. · Journal of Autism and Developmental Disorders · 2000 · 7.6K citations

Education, Behavioral Sciences, Psychology +10

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

P. Naresh Kumar, Steven Henikoff, Pauline C. Ng · Nature Protocols · 2009 · 6.7K citations

Life Sciences, Bioinformatics, Molecular Biology +15

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

Life Sciences, Genetics, Molecular Biology +12