Arthur L. Beaudet

The NIH Roadmap Epigenomics Mapping Consortium

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1

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

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

High-throughput discovery of novel developmental phenotypes

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

Mutation of the Angelman Ubiquitin Ligase in Mice Causes Increased Cytoplasmic p53 and Deficits of Contextual Learning and Long-Term Potentiation

Evaluation, Diagnosis, and Treatment of Gastrointestinal Disorders in Individuals With ASDs: A Consensus Report

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation