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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: pelosi e. 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: pelosi e. 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: pelosi e. Hum Mutat. 2022 Mar;43(3):362-379. doi: 10.1002/humu.24318. Epub 2021 Dec 28. Hum Mutat. 2022. PMID: 34918413
Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer-Rokitansky-Küster-Hauser syndrome.
Thomson E, Tran M, Robevska G, Ayers K, van der Bergen J, Gopalakrishnan Bhaskaran P, Haan E, Cereghini S, Vash-Margita A, Margetts M, Hensley A, Nguyen Q, Sinclair A, Koopman P, Pelosi E. Thomson E, et al. Among authors: pelosi e. Hum Mol Genet. 2023 Mar 6;32(6):1032-1047. doi: 10.1093/hmg/ddac262. Hum Mol Genet. 2023. PMID: 36282544 Free PMC article.
279 results