Browsing by Author Biesecker, Leslie G.

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Issue DateTitleAuthor(s)Citation
2010Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral NeuropathyNicholson, Garth; Antonellis, Anthony; Biesecker, Leslie G.; Cherukuri, Praveen F.; Chu, Kristine; Cruz, Pedro; Green, Eric D.; Hansen, Nancy F.; Hou, Ya-Ming; Igarashi, Takao; Ionasescu, Victor; Iyer, Ram; Liu, Cuiping; Lupski, James; McLaughlin, Heather M.; Mullikin, James C.; NISC Comparative Sequencing Program, -; Pehlivan, Davut; Sakaguchi, Reiko; Searby, Charles; Szigeti, Kinga; Talbot, Kevin N.; Vance, Jefferey M.; Wilson, Thomas E.; Zuchner, Stephan; Concord Clinical School: ANZAC Research InstituteCompound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy, American Journal of Human Genetics, vol.87, 4,pp 560-566
2011Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4Nicholson, Garth; Reddel, Stephen; Batish, Sat; Biesecker, Leslie G.; Blouin, Randall; Brandt, Carla; Coppola, Giovanni; Ferguson, Cole; Grant, Adrienne; Hoffman, Stuart; Lenk, Guy; Meisler, Miriam H.; Scheuerle, Angela; Simpson, Erika; Towne, Charles; Yasick, Michelle; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteDistinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4, Brain: a journal of neurology, vol.134, 7, 2011,pp 1959-1971
2012A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N)Kennerson, Marina; Nicholson, Garth; Antonellis, Anthony; Biesecker, Leslie G.; Giblin, William; Hou, Ya-Ming; Lee, Yi-Chung; Lupski, James; McLaughlin, Heather M.; Sakaguchi, Reiko; Talbot, Kevin N.; Vance, Jefferey M.; Wilson, Thomas E.; Zuchner, Stephan; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteA Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N), Human Mutation, vol.33, 1, 2012,pp 244-253