J.R. Lupski

Clinical variability in two pairs of identical twins with the Charcot‐Marie‐Tooth disease type 1A duplication

Carlos A. Garcia, R. E. Malamut, John D. England et al. · Neurology · 1995 · 107 citations

Life Sciences, Genetics, Molecular Genetics +17

Two novel translocation breakpoints upstream of <i>SOX9</i> define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia

M. Leipoldt, Martin Erdel, G. A. Bien-Willner et al. · Clinical Genetics · 2006 · 101 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in <i>RLBP1</i>

Nicholas Katsanis, Lewis Ra, JC Cavender et al. · Clinical Genetics · 2001 · 71 citations

Medicine, Genetics, Ophthalmology +17

Chromosomal duplications in bacteria, fruit flies, and humans.

J.R. Lupski, J R Roth, George M. Weinstock · PubMed · 1996 · 63 citations

Life Sciences, Genetics, Molecular Genetics +12

Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome

SA Yatsenko, AN Yatsenko, Krisztián Szigeti et al. · Clinical Genetics · 2004 · 53 citations

Life Sciences, Genetics, Molecular Genetics +17