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Page 1
Mutations in NOTCH1 cause Adams-Oliver syndrome.
Stittrich AB, Lehman A, Bodian DL, Ashworth J, Zong Z, Li H, Lam P, Khromykh A, Iyer RK, Vockley JG, Baveja R, Silva ES, Dixon J, Leon EL, Solomon BD, Glusman G, Niederhuber JE, Roach JC, Patel MS. Stittrich AB, et al. Among authors: bodian dl. Am J Hum Genet. 2014 Sep 4;95(3):275-84. doi: 10.1016/j.ajhg.2014.07.011. Epub 2014 Aug 14. Am J Hum Genet. 2014. PMID: 25132448 Free PMC article.
A genome-wide association study identifies only two ancestry specific variants associated with spontaneous preterm birth.
Rappoport N, Toung J, Hadley D, Wong RJ, Fujioka K, Reuter J, Abbott CW, Oh S, Hu D, Eng C, Huntsman S, Bodian DL, Niederhuber JE, Hong X, Zhang G, Sikora-Wohfeld W, Gignoux CR, Wang H, Oehlert J, Jelliffe-Pawlowski LL, Gould JB, Darmstadt GL, Wang X, Bustamante CD, Snyder MP, Ziv E, Patsopoulos NA, Muglia LJ, Burchard E, Shaw GM, O'Brodovich HM, Stevenson DK, Butte AJ, Sirota M. Rappoport N, et al. Among authors: bodian dl. Sci Rep. 2018 Jan 9;8(1):226. doi: 10.1038/s41598-017-18246-5. Sci Rep. 2018. PMID: 29317701 Free PMC article.
Gene-Centric Analysis of Preeclampsia Identifies Maternal Association at PLEKHG1.
Gray KJ, Kovacheva VP, Mirzakhani H, Bjonnes AC, Almoguera B, DeWan AT, Triche EW, Saftlas AF, Hoh J, Bodian DL, Klein E, Huddleston KC, Ingles SA, Lockwood CJ, Hakonarson H, McElrath TF, Murray JC, Wilson ML, Norwitz ER, Karumanchi SA, Bateman BT, Keating BJ, Saxena R. Gray KJ, et al. Among authors: bodian dl. Hypertension. 2018 Aug;72(2):408-416. doi: 10.1161/HYPERTENSIONAHA.117.10688. Epub 2018 Jul 2. Hypertension. 2018. PMID: 29967039 Free PMC article.
Parent-of-origin-specific signatures of de novo mutations.
Goldmann JM, Wong WS, Pinelli M, Farrah T, Bodian D, Stittrich AB, Glusman G, Vissers LE, Hoischen A, Roach JC, Vockley JG, Veltman JA, Solomon BD, Gilissen C, Niederhuber JE. Goldmann JM, et al. Nat Genet. 2016 Aug;48(8):935-9. doi: 10.1038/ng.3597. Epub 2016 Jun 20. Nat Genet. 2016. PMID: 27322544
50 results