Chris Tyler‐Smith

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

Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes

Barbara E. Stranger, Matthew S. Forrest, Mark Dunning et al. · Science · 2007 · 1.7K citations · Full text

Phenotypic Variation, Genetics, Genetic Epidemiology +20

The Simons Genome Diversity Project: 300 genomes from 142 diverse populations

Swapan Mallick, Heng Li, Mark Lipson et al. · Nature · 2016 · 1.7K citations · Full text

Genetic Diversity, Diverse Populations, Molecular Ecology +10

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

Daniel G. MacArthur, Suganthi Balasubramanian, Adam Frankish et al. · Science · 2012 · 1.3K citations · Full text