James R. Lupski

Molecular mechanism for duplication 17p11.2— the homologous recombination reciprocal of the Smith-Magenis microdeletion

Lorraine Potocki, Ken-Shiung Chen, Sung Sup Park et al. · Nature Genetics · 2000 · 422 citations · Full text

Genome Instability, Duplication 17P11.2—, Genetics +9

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

Ken‐Shiung Chen, Prasad Manian, Thearith Koeuth et al. · Nature Genetics · 1997 · 384 citations

Genetic Disorder, Homologous Recombination, Genetics +8

Clan Genomics and the Complex Architecture of Human Disease

James R. Lupski, John W. Belmont, Eric Boerwinkle et al. · Cell · 2011 · 383 citations · Full text

Genetics, Complex Disease, Genetic Foundation +5

Mutations in CYP1B1, the Gene for Cytochrome P4501B1, Are the Predominant Cause of Primary Congenital Glaucoma in Saudi Arabia

Bassem A. Bejjani, Richard A. Lewis, Karim F. Tomey et al. · The American Journal of Human Genetics · 1998 · 319 citations · Full text

Ocular Disease, Ophthalmology, Genetic Disorder +9

Clinical, cytogenetic, and molecular evidence for an infant with Smith–Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion

Roberto T. Zori, James R. Lupski, Heju Zhang et al. · American Journal of Medical Genetics · 1993 · 89 citations