Gordon C. Gowans

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Santhosh Girirajan, Jill A. Rosenfeld, Gregory M. Cooper et al. · Nature Genetics · 2010 · 674 citations · Full text

Medicine, Genetics, Molecular Genetics +10

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

Santhosh Girirajan, Jill A. Rosenfeld, Bradley P. Coe et al. · New England Journal of Medicine · 2012 · 634 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

Blake C. Ballif, Aaron Theisen, Justine Coppinger et al. · Molecular Cytogenetics · 2008 · 308 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems

Stephen R. Williams, Micheala A. Aldred, Vazken M. Der Kaloustian et al. · The American Journal of Human Genetics · 2010 · 305 citations · Full text

Medicine, Genetics, Molecular Genetics +8

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2

Blake C. Ballif, Sara A. Hornor, Elizabeth S. Jenkins et al. · Nature Genetics · 2007 · 250 citations

Life Sciences, Genetics, Molecular Genetics +11