Scientific Publications

Search by Keyword(s)
Found 4 results

Filters: Author is Lupski, JR  [Clear All Filters]

Search Results

  • Showing 1-4 of 4 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
2006
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.Zody, MC, Garber M., Adams DJ, Sharpe T., Harrow J., Lupski JR, Nicholson C., Searle SM, Wilming L., Young SK, Abouelleil A., Allen NR, Bi W., Bloom T., Borowsky ML, Bugalter BE, Butler J., Chang JL, Chen CK, Cook A., et al. Nature, 2006/04/20, Volume 440, Issue 7087, p.1045-9, (2006) Read More / View Supplemental Materials
Abstract
  • Showing 1-4 of 4 Results