Kelly E. Jackson

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

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

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Katherine L. Helbig, Robert J. Lauerer, Jacqueline C Bahr et al. · The American Journal of Human Genetics · 2018 · 153 citations · Full text

Medicine, Genetics, Molecular Genetics +15

The Mouse Intestinal Fatty Acid Binding Protein Gene: Nucleotide Sequence, Pattern of Developmental and Regional Expression, and Proposed Structure of Its Protein Product

Rebecca P. Green, S M Cohn, James C. Sacchettini et al. · DNA and Cell Biology · 1992 · 87 citations

Life Sciences, Developmental Biology, Molecular Biology +16

A Peripherin/Retinal Degeneration Slow Mutation (Pro-210-Arg) Associated with Macular and Peripheral Retinal Degeneration

Michael B. Gorin, Kelly E. Jackson, Robert E. Ferrell et al. · Ophthalmology · 1995 · 77 citations · Full text

Medicine, Genetics, Molecular Genetics +17