Jerome L. Gorski

A copy number variation morbidity map of developmental delay

Gregory M. Cooper, Bradley P. Coe, Santhosh Girirajan et al. · Nature Genetics · 2011 · 1.4K citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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

Mutations in FOXC2 (MFH-1), a Forkhead Family Transcription Factor, Are Responsible for the Hereditary Lymphedema-Distichiasis Syndrome

Jianming Fang, Susan L. Dagenais, Robert P. Erickson et al. · The American Journal of Human Genetics · 2000 · 613 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy

Peter N. Ray, Bonnie Belfall, Catherine Duff et al. · Nature · 1985 · 370 citations

Medicine, Genetics, Molecular Genetics +5

Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: A putative RhoRac guanine nucleotide exchange factor

N.German Pasteris, Amy B. Cadle, Lindsay J. Logie et al. · Cell · 1994 · 297 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10