Browsing by Author Lupski, James

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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
2004A Girl With Duplication 17p10-p12 Associated With A Dicentric Chromosome.Christodoulou, John; Jones, Kristi; Lupski, James; Shaw, Christine J; Smith, Ellie; Stankiewicz, Pawel; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthA Girl With Duplication 17p10-p12 Associated With A Dicentric Chromosome., American journal of medical genetics Part A, vol.124A,(2),2004,pp 173-178
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