Jeffrey R. MacDonald

Global variation in copy number in the human genome

Richard Redon, Shumpei Ishikawa, Karen Fitch et al. · Nature · 2006 · 4.3K citations · Full text

Medicine, Genetics, Genome Analysis +5

Origins and functional impact of copy number variation in the human genome

Donald F. Conrad, Dalila Pinto, Richard Redon et al. · Nature · 2009 · 2K citations

Genome Study, Medicine, Genetics +9

The Diploid Genome Sequence of an Individual Human

Samuel Lévy, Granger Sutton, Pauline C. Ng et al. · PLoS Biology · 2007 · 1.8K citations · Full text

The Database of Genomic Variants: a curated collection of structural variation in the human genome

Jeffrey R. MacDonald, Robert Ziman, Ryan K. C. Yuen et al. · Nucleic Acids Research · 2013 · 1.4K citations · Full text

Structural Variation, Engineering, Genetics +19

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

Ryan K. C. Yuen, Daniele Merico, Matt Bookman et al. · Nature Neuroscience · 2017 · 910 citations · Full text

Next-generation Sequencing, Genetics, Psychiatric Genetics +9