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Page 1
The contribution of de novo coding mutations to autism spectrum disorder.
Iossifov I, O'Roak BJ, Sanders SJ, Ronemus M, Krumm N, Levy D, Stessman HA, Witherspoon KT, Vives L, Patterson KE, Smith JD, Paeper B, Nickerson DA, Dea J, Dong S, Gonzalez LE, Mandell JD, Mane SM, Murtha MT, Sullivan CA, Walker MF, Waqar Z, Wei L, Willsey AJ, Yamrom B, Lee YH, Grabowska E, Dalkic E, Wang Z, Marks S, Andrews P, Leotta A, Kendall J, Hakker I, Rosenbaum J, Ma B, Rodgers L, Troge J, Narzisi G, Yoon S, Schatz MC, Ye K, McCombie WR, Shendure J, Eichler EE, State MW, Wigler M. Iossifov I, et al. Among authors: hakker i. Nature. 2014 Nov 13;515(7526):216-21. doi: 10.1038/nature13908. Epub 2014 Oct 29. Nature. 2014. PMID: 25363768 Free PMC article.
De novo gene disruptions in children on the autistic spectrum.
Iossifov I, Ronemus M, Levy D, Wang Z, Hakker I, Rosenbaum J, Yamrom B, Lee YH, Narzisi G, Leotta A, Kendall J, Grabowska E, Ma B, Marks S, Rodgers L, Stepansky A, Troge J, Andrews P, Bekritsky M, Pradhan K, Ghiban E, Kramer M, Parla J, Demeter R, Fulton LL, Fulton RS, Magrini VJ, Ye K, Darnell JC, Darnell RB, Mardis ER, Wilson RK, Schatz MC, McCombie WR, Wigler M. Iossifov I, et al. Among authors: hakker i. Neuron. 2012 Apr 26;74(2):285-99. doi: 10.1016/j.neuron.2012.04.009. Neuron. 2012. PMID: 22542183 Free PMC article.
Detection of Copy Number Variants by Short Multiply Aggregated Sequence Homologies.
Jobanputra V, Andrews P, Felice V, Abhyankar A, Kozon L, Robinson D, London F, Hakker I, Wrzeszczynski K, Ronemus M. Jobanputra V, et al. Among authors: hakker i. J Mol Diagn. 2020 Dec;22(12):1476-1481. doi: 10.1016/j.jmoldx.2020.09.009. Epub 2020 Oct 23. J Mol Diagn. 2020. PMID: 33132082 Free PMC article.
Utility of Single-Cell Genomics in Diagnostic Evaluation of Prostate Cancer.
Alexander J, Kendall J, McIndoo J, Rodgers L, Aboukhalil R, Levy D, Stepansky A, Sun G, Chobardjiev L, Riggs M, Cox H, Hakker I, Nowak DG, Laze J, Llukani E, Srivastava A, Gruschow S, Yadav SS, Robinson B, Atwal G, Trotman LC, Lepor H, Hicks J, Wigler M, Krasnitz A. Alexander J, et al. Among authors: hakker i. Cancer Res. 2018 Jan 15;78(2):348-358. doi: 10.1158/0008-5472.CAN-17-1138. Epub 2017 Nov 27. Cancer Res. 2018. PMID: 29180472 Free PMC article.
11 results