James R. Lupski
James R. Lupski (born February 22, 1957) is the Cullen Endowed Chair in Molecular Genetics and Professor in the Department of Pediatrics at Baylor College of Medicine. Lupski obtained his BA degree from New York University in 1979 and his PhD and MD degrees in 1984 and 1985, respectively, from the same institution. He later moved for his Residency in Pediatrics to Baylor College of Medicine, where he has stayed since. Lupski is affected by a genetic disease called Charcot-Marie-Tooth (CMT) and has studied the condition throughout his entire research career. He has also contributed to the discovery and definition of other genomic disorders caused by chromosomal copy number changes and several genetic diseases including Potocki-Lupski syndrome. Provided by Wikipedia
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P722: VariantMatcher and the variant-level matching network to facilitate variant classification and disease gene discovery by Nara Sobreira, Marcelo Szeremeta, Darine Villela, Renan Martin, Sean Griffith, Laura Vail, Jennifer Posey, Kimberly Doheny, James Lupski, David Valle, Ada Hamosh, Corina Antonescu
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P330: Understanding the disease mechanisms and copy number variations at 17p11.2 locus that do not encompass the dosage sensitive RAI1 gene by Shruti Pande, Christopher Grochowski, Davut Pehlivan, Parneet Kaur, Zain Dardas, Haowei Du, Chelsi Rose, Josephine Wincent, Shalini Jhangiani, Lorraine Potocki, Philip Hastings, Jennifer Posey, Anna Lindstrand, Claudia Carvalho, James Lupski
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O28: GREGoR: Accelerating genomics for rare diseases by Moez Dawood, Ben Heavner, Marsha Wheeler, Rachel Ungar, Jonathan LoTempio, Laurens Wiel, Seth Berger, Jonathan Bernstein, Jessica Chong, Emmanuèle Délot, Evan Eichler, Richard Gibbs, James Lupski, Ali Shojaie, Michael Talkowski, Chia-Lin Wei, Matthew Wheeler, Eric Vilain, Fritz Sedlazeck, Danny Miller, Casey Gifford, Susanne May, Heidi Rehm, Anne O'Donnell-Luria, Jennifer Posey, Lisa Chadwick, Michael Bamshad, Stephen Montgomery
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