Richard Redon

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

Diet and the evolution of human amylase gene copy number variation

George H. Perry, Nathaniel J. Dominy, Katrina G. Claw et al. · Nature Genetics · 2007 · 1.5K citations · Full text

Biology, Genome Study, Medicine +10

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

Connie R. Bezzina, Julien Barc, Yuka Mizusawa et al. · Nature Genetics · 2013 · 540 citations · Full text

Cardiomyopathy, Genetic Disorder, Genetics +9