Arthur L. Beaudet

The NIH Roadmap Epigenomics Mapping Consortium

B Bernstein, J Stamatoyannopoulos, J Costello et al. · Nature Biotechnology · 2010 · 2K citations

Functional Genomics, Engineering, Bioinformatics Database +8

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Yaping Yang, Donna M. Muzny, Jeffrey G. Reid et al. · New England Journal of Medicine · 2013 · 1.9K citations · Full text

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

Harry T. Orr, Ming‐Yi Chung, Sandro Banfi et al. · Nature Genetics · 1993 · 1.6K citations

Molecular Neuroscience, Genetics, Molecular Biology +6

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

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

Ronald J. Wapner, Brynn Levy, Blake C. Ballif et al. · New England Journal of Medicine · 2012 · 1.4K citations · Full text