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Sex-Specific Effect of MTSS1 Downregulation on Dilated Cardiomyopathy.
Choe D, Burke M, Brandimarto JA, Marti-Pamies I, Yob J, Yang Y, Morley MP, Drivas TG, Day S, Damrauer S, Wang X, Cappola TP. Choe D, et al. Among authors: drivas tg. medRxiv [Preprint]. 2024 Mar 1:2024.02.28.24303451. doi: 10.1101/2024.02.28.24303451. medRxiv. 2024. PMID: 38464240 Free PMC article. Preprint.
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.
Safonov A, Nomakuchi TT, Chao E, Horton C, Dolinsky JS, Yussuf A, Richardson M, Speare V, Li S, Bogus ZC, Bonanni M, Raper A, Kallish S, Ritchie MD; Regeneron Genetics Center; Penn Medicine BioBank; Nathanson KL, Drivas TG. Safonov A, et al. Among authors: drivas tg. medRxiv [Preprint]. 2023 Aug 10:2023.08.08.23293676. doi: 10.1101/2023.08.08.23293676. medRxiv. 2023. PMID: 37609227 Free PMC article. Preprint.
Alternative splicing of OAS1 alters the risk for severe COVID-19.
Huffman J, Butler-Laporte G, Khan A, Drivas TG, Peloso GM, Nakanishi T, Verma A, Kiryluk K, Richards JB, Zeberg H. Huffman J, et al. Among authors: drivas tg. medRxiv [Preprint]. 2021 Mar 25:2021.03.20.21254005. doi: 10.1101/2021.03.20.21254005. medRxiv. 2021. PMID: 33791713 Free PMC article. Updated. Preprint.
Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA.
Nriagu BN, Williams LS, Brewer N, Surrey LF, Srinivasan AS, Li D, Britt A, Treat J, Crowley TB, O'Connor N, Ganguly A, Low D, Queenan M, Drivas TG, Zackai EH, Adams DM, Hakonarson H, Snyder KM, Sheppard SE. Nriagu BN, et al. Among authors: drivas tg. Am J Med Genet A. 2024 Jan;194(1):64-69. doi: 10.1002/ajmg.a.63385. Epub 2023 Sep 13. Am J Med Genet A. 2024. PMID: 37705207 Free PMC article.
Phenotypes of undiagnosed adults with actionable OTC and GLA variants.
Gold JI, Madhavan S, Park J, Zouk H, Perez E, Strong A, Drivas TG, Karaa A, Yudkoff M, Rader D; Regeneron Genetics Center; Penn Medicine BioBank; Green RC, Gold NB. Gold JI, et al. Among authors: drivas tg. HGG Adv. 2023 Jul 29;4(4):100226. doi: 10.1016/j.xhgg.2023.100226. eCollection 2023 Oct 12. HGG Adv. 2023. PMID: 37593415 Free PMC article.
Unmasking the challenges of Kabuki syndrome in adulthood: A case series.
Priestley JRC, Rippert AL, Condit C, Izumi K, Kallish S, Drivas TG. Priestley JRC, et al. Among authors: drivas tg. Am J Med Genet C Semin Med Genet. 2023 Jun;193(2):128-138. doi: 10.1002/ajmg.c.32054. Epub 2023 Jun 9. Am J Med Genet C Semin Med Genet. 2023. PMID: 37296540
30 results