Browsing by Author Antonellis, Anthony

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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
2008Evidence of a founder haplotype refines the X-linked Charcot–Marie-Tooth (CMTX3) locus to a 2.5 Mb regionBrewer, Megan; Changi, Febriani; Kennerson, Marina; Nicholson, Garth; Polly, Patsie; Antonellis, Anthony; Fischbeck, Kurt; Confuscius Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteEvidence of a founder haplotype refines the X-linked Charcot–Marie-Tooth (CMTX3) locus to a 2.5 Mb region, Neurogenetics, vol.9, N/A, 2008,pp 191-195
2005Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutationsNicholson, Garth; Antonellis, Anthony; Beggs, John L.; Christodoulou, Kyproula; Dalakas, Marinos C.; Fischbeck, Kenneth H.; Funalot, Benoit; Goldfarb, Lev G.; Green, Eric D.; Ionasescu, Victor; Kyriakides, Theodoros; Puls, Imke; Sambuughin, Nyamkhishig; Sivakumar, Kumaraswamy; Zamba-Papanicolaou, Eleni; Concord Clinical School: ANZAC Research InstitutePhenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations, Brain (2005), vol.128,(Pt 10),2005,pp 2304-2314
2013Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutationChaudhry, Rabia; Kennerson, Marina; Nicholson, Garth; Antonellis, Anthony; Brewer, Megan; Kidambi, Aditi; Mathews, Katherine D; Concord Clinical School: Medicine; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteRe-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation, Muscle and Nerve, vol.47, 6, 2013,pp 922-924
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