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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2008 2
2011 1
2012 1
2013 1
2014 1
2015 2
2018 1
2019 1
2020 1
2021 5
2022 4
2023 6
2024 3

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28 results

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Page 1
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B, Hallgren J, Hulen J, Watson CJ, Faundes V, Duffourd Y, Lee P, Simon MC, de la Cruz X, Padilla N, Flores-Mendez M, Akizu N, Smiler J, Pellegrino Da Silva R, Li D, March M, Diaz-Rosado A, Peixoto de Barcelos I, Choa ZX, Lim CY, Dubourg C, Journel H, Demurger F, Mulhern M, Akman C, Lippa N, Andrews M, Baldridge D, Constantino J, van Haeringen A, Snoeck-Streef I, Chow P, Hing A, Graham JM Jr, Au M, Faivre L, Shen W, Mao R, Palumbos J, Viskochil D, Gahl W, Tifft C, Macnamara E, Hauser N, Miller R, Maffeo J, Afenjar A, Doummar D, Keren B, Arn P, Macklin-Mantia S, Meerschaut I, Callewaert B, Reis A, Zweier C, Brewer C, Saggar A, Smeland MF, Kumar A, Elmslie F, Deshpande C, Nizon M, Cogne B, van Ierland Y, Wilke M, van Slegtenhorst M, Koudijs S, Chen JY, Dredge D, Pier D, Wortmann S, Kamsteeg EJ, Koch J, Haynes D, Pollack L, Titheradge H, Ranguin K, Denommé-Pichon AS, Weber S, Pérez de la Fuente R, Sánchez Del Pozo J, Lezana Rosales JM, Joset P, Steindl K, Rauch A, Mei D, Mari F, Guerrini R, Lespinasse J, Tran Mau-Them F, Philippe C, Dauriat B, Raymond L, Moutton S, Cueto-González AM, Tan TY, Mignot C, Grotto S, Renaldo F, … See abstract for full author list ➔ Sheppard SE, et al. Among authors: drivas tg. Sci Adv. 2023 Mar 10;9(10):eade1463. doi: 10.1126/sciadv.ade1463. Epub 2023 Mar 10. Sci Adv. 2023. PMID: 36897941 Free PMC article.
CEP290 and the primary cilium.
Drivas TG, Bennett J. Drivas TG, et al. Adv Exp Med Biol. 2014;801:519-25. doi: 10.1007/978-1-4614-3209-8_66. Adv Exp Med Biol. 2014. PMID: 24664739 Review.
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
Multi-ancestry fine mapping implicates OAS1 splicing in risk of severe COVID-19.
Huffman JE, Butler-Laporte G, Khan A, Pairo-Castineira E, Drivas TG, Peloso GM, Nakanishi T; COVID-19 Host Genetics Initiative; Ganna A, Verma A, Baillie JK, Kiryluk K, Richards JB, Zeberg H. Huffman JE, et al. Among authors: drivas tg. Nat Genet. 2022 Feb;54(2):125-127. doi: 10.1038/s41588-021-00996-8. Epub 2022 Jan 13. Nat Genet. 2022. PMID: 35027740 Free PMC article.
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.
Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disorders.
Zhang X, Lucas AM, Veturi Y, Drivas TG, Bone WP, Verma A, Chung WK, Crosslin D, Denny JC, Hebbring S, Jarvik GP, Kullo I, Larson EB, Rasmussen-Torvik LJ, Schaid DJ, Smoller JW, Stanaway IB, Wei WQ, Weng C, Ritchie MD. Zhang X, et al. Among authors: drivas tg. Nat Commun. 2022 Jun 14;13(1):3428. doi: 10.1038/s41467-022-30678-w. Nat Commun. 2022. PMID: 35701404 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.
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.
28 results