Scientific Publications

Search by Keyword(s)
Found 5 results

Filters: Author is Jhangiani, SN  [Clear All Filters]

Search Results

  • Showing 1-5 of 5 Results
2016
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.Harel, T., Yoon WH, Garone C., Gu S., Coban-Akdemir Z., Eldomery MK, Posey JE, Jhangiani SN, Rosenfeld JA, Cho MT, Fox S., Withers M., Brooks SM, Chiang T., Duraine L., Erdin S., Yuan B., Shao Y., Moussallem E., Lamperti C., et al. American journal of human genetics, 2016/09/07, (2016) Read More / View Supplemental Materials
Abstract
2015
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.Karaca, E., Harel T., Pehlivan D., Jhangiani SN, Gambin T., Coban Akdemir Z., Gonzaga-Jauregui C., Erdin S., Bayram Y., Campbell IM, Hunter JV, Atik MM, Van Esch H., Yuan B., Wiszniewski W., Isikay S., Yesil G., Yuregir OO, Tug Bozdogan S., Aslan H., et al. Neuron, 2015/11/04, Volume 88, Issue 3, p.499-513, (2015) Read More / View Supplemental Materials
Abstract
Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.Karaca, E., Yuregir OO, Bozdogan ST, Aslan H., Pehlivan D., Jhangiani SN, Akdemir ZC, Gambin T., Bayram Y., Atik MM, Erdin S., Muzny D., Gibbs RA, Lupski JR, and Baylor-Hopkins Center for Mendelian Genomics American journal of medical genetics. Part A, 2015/08/04, (2015) Read More / View Supplemental Materials
Abstract
A Massive Expansion of Effector Genes Underlies Gall-Formation in the Wheat Pest Mayetiola destructor.Zhao, C., Escalante LN, Chen H., Benatti TR, Qu J., Chellapilla S., Waterhouse RM, Wheeler D., Andersson MN, Bao R., Batterton M., Behura SK, Blankenburg KP, Caragea D., Carolan JC, Coyle M., El-Bouhssini M., Francisco L., Friedrich M., Gill N., et al. Current biology : CB, 2015/02/04, (2015) Read More / View Supplemental Materials
Abstract
2008
Somatic mutations affect key pathways in lung adenocarcinoma.Ding, L., Getz G., Wheeler DA, Mardis ER, McLellan MD, Cibulskis K., Sougnez C., Greulich H., Muzny DM, Morgan MB, Fulton L., Fulton RS, Zhang Q., Wendl MC, Lawrence MS, Larson DE, Chen K., Dooling DJ, Sabo A., Hawes AC, et al. Nature, 2008/10/23, Volume 455, Issue 7216, p.1069-75, (2008) Read More / View Supplemental Materials
Abstract
  • Showing 1-5 of 5 Results