Pragna I. Patel

Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

Victoria Campuzano, Laura Montermini, María Dolores Moltó et al. · Science · 1996 · 2.7K citations

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

James R. Lupski, Roberto Montes‐de‐Oca‐Luna, Susan Slaugenhaupt et al. · Cell · 1991 · 1.3K citations

Mendelian Disorder, Genetic Disorder, Genetics +5

Mutation of PAX9 is associated with oligodontia

David W. Stockton, Parimal Das, Monica Goldenberg et al. · Nature Genetics · 2000 · 524 citations

Mendelian Disorder, Genetic Disorder, Medicine +5

The gene for the peripheral myelin protein PMP–22 is a candidate for Charcot–Marie–Tooth disease type 1A

Pragna I. Patel, R Schoener-Scott, Pentao Liu et al. · Nature Genetics · 1992 · 493 citations

Molecular Neuroscience, Genetics, Experimental Neuropathology +6

Charcot–Marie–Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

Pentao Liu, Carol A. Wise, A. Craig Chinault et al. · Nature Genetics · 1992 · 388 citations

Biology, Mb Monomer Unit, Natural Sciences +8