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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Zhou X, Feliciano P, Shu C, Wang T, Astrovskaya I, Hall JB, Obiajulu JU, Wright JR, Murali SC, Xu SX, Brueggeman L, Thomas TR, Marchenko O, Fleisch C, Barns SD, Snyder LG, Han B, Chang TS, Turner TN, Harvey WT, Nishida A, O'Roak BJ, Geschwind DH; SPARK Consortium; Michaelson JJ, Volfovsky N, Eichler EE, Shen Y, Chung WK. Zhou X, et al. Nat Genet. 2022 Sep;54(9):1305-1319. doi: 10.1038/s41588-022-01148-2. Epub 2022 Aug 18. Nat Genet. 2022. PMID: 35982159 Free PMC article.
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
DeRoin L, Cavalcante de Andrade Silva M, Petras K, Arndt K, Phillips N, Wanjari P, Subramanian HP, Montes D, McElherne J, Theissen M, Briese R, Das S, Godley LA, Segal J, Del Gaudio D, Fitzpatrick C, Churpek JE. DeRoin L, et al. Among authors: montes d. Hum Mutat. 2022 Jul;43(7):950-962. doi: 10.1002/humu.24374. Epub 2022 Apr 14. Hum Mutat. 2022. PMID: 35419889 Free PMC article.
Preoperative antithrombotic treatment in acutely symptomatic carotid artery stenosis.
Martinez-Gutierrez JC, Roy AT, D'Amato S, Berkman JM, Montes D, Kimball CA, Rordorf GA, Chibnik LB, Romero JM, Silverman SB. Martinez-Gutierrez JC, et al. Among authors: montes d. J Stroke Cerebrovasc Dis. 2022 May;31(5):106396. doi: 10.1016/j.jstrokecerebrovasdis.2022.106396. Epub 2022 Feb 24. J Stroke Cerebrovasc Dis. 2022. PMID: 35219972
62 results