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Page 1
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, Hewitt J, Lambeth L, Bouty A, Knarston IM, Tan TY, Cameron F, Werther G, Hutson J, O'Connell M, Grover SR, Heloury Y, Zacharin M, Bergman P, Kimber C, Brown J, Webb N, Hunter MF, Srinivasan S, Titmuss A, Verge CF, Mowat D, Smith G, Smith J, Ewans L, Shalhoub C, Crock P, Cowell C, Leong GM, Ono M, Lafferty AR, Huynh T, Visser U, Choong CS, McKenzie F, Pachter N, Thompson EM, Couper J, Baxendale A, Gecz J, Wheeler BJ, Jefferies C, MacKenzie K, Hofman P, Carter P, King RI, Krausz C, van Ravenswaaij-Arts CM, Looijenga L, Drop S, Riedl S, Cools M, Dawson A, Juniarto AZ, Khadilkar V, Khadilkar A, Bhatia V, Dũng VC, Atta I, Raza J, Thi Diem Chi N, Hao TK, Harley V, Koopman P, Warne G, Faradz S, Oshlack A, Ayers KL, Sinclair AH. Eggers S, et al. Among authors: ohnesorg t. Genome Biol. 2016 Nov 29;17(1):243. doi: 10.1186/s13059-016-1105-y. Genome Biol. 2016. PMID: 27899157 Free PMC article.
Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.
Robevska G, van den Bergen JA, Ohnesorg T, Eggers S, Hanna C, Hersmus R, Thompson EM, Baxendale A, Verge CF, Lafferty AR, Marzuki NS, Santosa A, Listyasari NA, Riedl S, Warne G, Looijenga L, Faradz S, Ayers KL, Sinclair AH. Robevska G, et al. Among authors: ohnesorg t. Hum Mutat. 2018 Jan;39(1):124-139. doi: 10.1002/humu.23354. Epub 2017 Nov 2. Hum Mutat. 2018. PMID: 29027299 Free PMC article.
Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis.
White S, Ohnesorg T, Notini A, Roeszler K, Hewitt J, Daggag H, Smith C, Turbitt E, Gustin S, van den Bergen J, Miles D, Western P, Arboleda V, Schumacher V, Gordon L, Bell K, Bengtsson H, Speed T, Hutson J, Warne G, Harley V, Koopman P, Vilain E, Sinclair A. White S, et al. Among authors: ohnesorg t. PLoS One. 2011 Mar 7;6(3):e17793. doi: 10.1371/journal.pone.0017793. PLoS One. 2011. PMID: 21408189 Free PMC article.
Genetic regulation of mammalian gonad development.
Eggers S, Ohnesorg T, Sinclair A. Eggers S, et al. Among authors: ohnesorg t. Nat Rev Endocrinol. 2014 Nov;10(11):673-83. doi: 10.1038/nrendo.2014.163. Epub 2014 Sep 23. Nat Rev Endocrinol. 2014. PMID: 25246082 Review.
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: ohnesorg t. Nat Commun. 2018 Dec 14;9(1):5319. doi: 10.1038/s41467-018-07784-9. Nat Commun. 2018. PMID: 30552336 Free PMC article.
28 results