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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, Rena… See abstract for full author list ➔ Sheppard SE, et al. Among authors: watson cj. 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.
Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.
Plowman JN, Matoy EJ, Uppala LV, Draves SB, Watson CJ, Sefranek BA, Stacey ML, Anderson SP, Belshan MA, Blue EE, Huff CD, Fu Y, Stessman HAF. Plowman JN, et al. Among authors: watson cj. HGG Adv. 2024 May 10;5(3):100306. doi: 10.1016/j.xhgg.2024.100306. Online ahead of print. HGG Adv. 2024. PMID: 38734904 Free article.
A Short Review on Obeticholic Acid: An Effective Modulator of Farnesoid X Receptor.
Narayanan AK, Surendran S, Balakrishnan D, Gopalakrishnan U, Malick S, Valsan A, Philips CA, Watson CJE. Narayanan AK, et al. Among authors: watson cje. Curr Rev Clin Exp Pharmacol. 2024;19(3):225-233. doi: 10.2174/0127724328239536230919070001. Curr Rev Clin Exp Pharmacol. 2024. PMID: 38708917 Review.
The incremental yield of prenatal exome sequencing over chromosome microarray for congenital heart abnormalities: A systematic review and meta-analysis.
Reilly K, Sonner S, McCay N, Rolnik DL, Casey F, Seale AN, Watson CJ, Kan A, Lai THT, Chung BHY, Diderich KEM, Srebniak MI, Dempsey E, Drury S, Giordano J, Wapner R, Kilby MD, Chitty LS, Mone F. Reilly K, et al. Among authors: watson cj. Prenat Diagn. 2024 May 6. doi: 10.1002/pd.6581. Online ahead of print. Prenat Diagn. 2024. PMID: 38708840
856 results