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Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9.
Croft B, Ohnesorg T, Hewitt J, Bowles J, Quinn A, Tan J, Corbin V, Pelosi E, van den Bergen J, Sreenivasan R, Knarston I, Robevska G, Vu DC, Hutson J, Harley V, Ayers K, Koopman P, Sinclair A. Croft B, et al. Among authors: sreenivasan r. Nat Commun. 2018 Dec 14;9(1):5319. doi: 10.1038/s41467-018-07784-9. Nat Commun. 2018. PMID: 30552336 Free PMC article.
Author Correction: Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9.
Croft B, Ohnesorg T, Hewitt J, Bowles J, Quinn A, Tan J, Corbin V, Pelosi E, van den Bergen J, Sreenivasan R, Knarston I, Robevska G, Vu DC, Hutson J, Harley V, Ayers K, Koopman P, Sinclair A. Croft B, et al. Among authors: sreenivasan r. Nat Commun. 2019 Jul 23;10(1):3351. doi: 10.1038/s41467-019-11310-w. Nat Commun. 2019. PMID: 31337757 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: sreenivasan r. Hum Mutat. 2022 Mar;43(3):362-379. doi: 10.1002/humu.24318. Epub 2021 Dec 28. Hum Mutat. 2022. PMID: 34918413
Altered SOX9 genital tubercle enhancer region in hypospadias.
Sreenivasan R, Gordon CT, Benko S, de Iongh R, Bagheri-Fam S, Lyonnet S, Harley V. Sreenivasan R, et al. J Steroid Biochem Mol Biol. 2017 Jun;170:28-38. doi: 10.1016/j.jsbmb.2016.10.009. Epub 2016 Oct 29. J Steroid Biochem Mol Biol. 2017. PMID: 27989796
Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility.
Jaillard S, Sreenivasan R, Beaumont M, Robevska G, Dubourg C, Knarston IM, Akloul L, van den Bergen J, Odent S, Croft B, Jouve G, Grover SR, Duros S, Pimentel C, Belaud-Rotureau MA, Ayers KL, Ravel C, Tucker EJ, Sinclair AH. Jaillard S, et al. Among authors: sreenivasan r. Maturitas. 2020 Jan;131:78-86. doi: 10.1016/j.maturitas.2019.10.011. Epub 2019 Nov 9. Maturitas. 2020. PMID: 31787151
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: sreenivasan r. Hum Mol Genet. 2022 Jul 7;31(13):2223-2235. doi: 10.1093/hmg/ddac023. Hum Mol Genet. 2022. PMID: 35134173
79 results