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Rare variants implicate NMDA receptor signaling and cerebellar gene networks in risk for bipolar disorder.
Hasin N, Riggs LM, Shekhtman T, Ashworth J, Lease R, Oshone RT, Humphries EM, Badner JA, Thomson PA, Glahn DC, Craig DW, Edenberg HJ, Gershon ES, McMahon FJ, Nurnberger JI, Zandi PP, Kelsoe JR, Roach JC, Gould TD, Ament SA. Hasin N, et al. Among authors: ashworth j. Mol Psychiatry. 2022 Sep;27(9):3842-3856. doi: 10.1038/s41380-022-01609-4. Epub 2022 May 11. Mol Psychiatry. 2022. PMID: 35546635
Rare variants in neuronal excitability genes influence risk for bipolar disorder.
Ament SA, Szelinger S, Glusman G, Ashworth J, Hou L, Akula N, Shekhtman T, Badner JA, Brunkow ME, Mauldin DE, Stittrich AB, Rouleau K, Detera-Wadleigh SD, Nurnberger JI Jr, Edenberg HJ, Gershon ES, Schork N; Bipolar Genome Study; Price ND, Gelinas R, Hood L, Craig D, McMahon FJ, Kelsoe JR, Roach JC. Ament SA, et al. Among authors: ashworth j. Proc Natl Acad Sci U S A. 2015 Mar 17;112(11):3576-81. doi: 10.1073/pnas.1424958112. Epub 2015 Feb 17. Proc Natl Acad Sci U S A. 2015. PMID: 25730879 Free PMC article.
Genomic architecture of inflammatory bowel disease in five families with multiple affected individuals.
Stittrich AB, Ashworth J, Shi M, Robinson M, Mauldin D, Brunkow ME, Biswas S, Kim JM, Kwon KS, Jung JU, Galas D, Serikawa K, Duerr RH, Guthery SL, Peschon J, Hood L, Roach JC, Glusman G. Stittrich AB, et al. Among authors: ashworth j. Hum Genome Var. 2016 Jan 7;3:15060. doi: 10.1038/hgv.2015.60. eCollection 2016. Hum Genome Var. 2016. PMID: 27081563 Free PMC article.
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: ashworth j. 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.
346 results