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Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Ayers KL, Eggers S, Rollo BN, Smith KR, Davidson NM, Siddall NA, Zhao L, Bowles J, Weiss K, Zanni G, Burglen L, Ben-Shachar S, Rosensaft J, Raas-Rothschild A, Jørgensen A, Schittenhelm RB, Huang C, Robevska G, van den Bergen J, Casagranda F, Cyza J, Pachernegg S, Wright DK, Bahlo M, Oshlack A, O'Brien TJ, Kwan P, Koopman P, Hime GR, Girard N, Hoffmann C, Shilon Y, Zung A, Bertini E, Milh M, Ben Rhouma B, Belguith N, Bashamboo A, McElreavey K, Banne E, Weintrob N, BenZeev B, Sinclair AH. Ayers KL, et al. Among authors: zhao l. Nat Commun. 2023 Jun 9;14(1):3403. doi: 10.1038/s41467-023-39040-0. Nat Commun. 2023. PMID: 37296101 Free PMC article.
Generation and mutational analysis of a transgenic mouse model of human SRY.
Thomson E, Zhao L, Chen YS, Longmuss E, Ng ET, Sreenivasan R, Croft B, Song X, Sinclair A, Weiss M, Koopman P, Pelosi E. Thomson E, et al. Among authors: zhao l. Hum Mutat. 2022 Mar;43(3):362-379. doi: 10.1002/humu.24318. Epub 2021 Dec 28. Hum Mutat. 2022. PMID: 34918413
Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiency.
Nakagawa R, Takasawa K, Gau M, Tsuji-Hosokawa A, Kawaji H, Murakawa Y, Takada S, Mikami M, Narumi S, Fukami M, Sreenivasan R, Maruyama T, Tucker EJ, Zhao L, Bowles J, Sinclair A, Koopman P, Hayashizaki Y, Morio T, Kashimada K. Nakagawa R, et al. Among authors: zhao l. Hum Mol Genet. 2022 Jul 7;31(13):2223-2235. doi: 10.1093/hmg/ddac023. Hum Mol Genet. 2022. PMID: 35134173
FGFR2 mutation in 46,XY sex reversal with craniosynostosis.
Bagheri-Fam S, Ono M, Li L, Zhao L, Ryan J, Lai R, Katsura Y, Rossello FJ, Koopman P, Scherer G, Bartsch O, Eswarakumar JV, Harley VR. Bagheri-Fam S, et al. Among authors: zhao l. Hum Mol Genet. 2015 Dec 1;24(23):6699-710. doi: 10.1093/hmg/ddv374. Epub 2015 Sep 11. Hum Mol Genet. 2015. PMID: 26362256 Free PMC article.
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