Browsing by Author Kidambi, Aditi

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Issue DateTitleAuthor(s)Citation
2015Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencingBrewer, Megan Hwa; Kennerson, Marina; Nicholson, Garth; Zhu, Danqing; Ahmad-Annuar, Azlina; Drew, Alexander P; Kidambi, Aditi; Ly, Carolyn; Tey, Shelisa; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: MedicineImproved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing, Molecular Genetics & Genomic Medicine, vol.3, 2, 2015,pp 143-154
2013A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) geneChaudhry, Rabia; Kennerson, Marina; Nicholson, Garth; Zuchner, Stephen; Chuang, David; Delatyckl, Martin; Drew, Alexander; Kidambi, Aditi; Ly, Carolyn; Rance, Gary; Ryan, Monique M.; Tso, Shih-Chia; Yiu, Eppie M.; Concord Clinical School: Medicine; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteA new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene, Human Molecular Genetics, vol.22, 7, 2013,pp 1404-1416
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
2016Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3Brewer, Megan Hwa; Chaudhry, Rabia; Kennerson, Marina; Menezes, Manoj; Nicholson, Garth; Qi, Jessica; Young, Helen Kathryn; Drew, Alexander P; Farrar, Michelle A; Kidambi, Aditi; Mowat, David; Reddel, Stephen; Ryan, Monique; Subramanian, Gopinath M; Zuchner, Stephan; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: Medicine; Concord Clinical School: ANZAC Research Institute; Clinical and Rehabilitation Sciences; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: Pathology; Childrens Hospital Westmead: Paediatrics & Child HealthWhole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3, PLoS Genetics, vol.12, 7, 2016,pp Article number e1006177-N/A
2016X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 geneKennerson, Marina; Kidambi, Aditi; Siddell, Anna; Choi, Byung-Ok; Chung, Ki; Hong, Young; Hwang, Sun; Kim, Eun; Kim, Sung; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteX-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene, Journal of the Peripheral Nervous System, vol.21, 1, 2016,pp 45-51