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Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing.
Mallawaarachchi AC, Lundie B, Hort Y, Schonrock N, Senum SR, Gayevskiy V, Minoche AE, Hollway G, Ohnesorg T, Hinchcliffe M, Patel C, Tchan M, Mallett A, Dinger ME, Rangan G, Cowley MJ, Harris PC, Burnett L, Shine J, Furlong TJ. Mallawaarachchi AC, et al. Among authors: ohnesorg t. Eur J Hum Genet. 2021 May;29(5):760-770. doi: 10.1038/s41431-020-00796-4. Epub 2021 Jan 12. Eur J Hum Genet. 2021. PMID: 33437033 Free PMC article.
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.
Painful ovulation in a 46,XX SRY -ve adult male with SOX9 duplication.
Shankara Narayana N, Kean AM, Ewans L, Ohnesorg T, Ayers KL, Watson G, Vasilaras A, Sinclair AH, Twigg SM, Handelsman DJ. Shankara Narayana N, et al. Among authors: ohnesorg t. Endocrinol Diabetes Metab Case Rep. 2017 Jun 7;2017:17-0045. doi: 10.1530/EDM-17-0045. eCollection 2017. Endocrinol Diabetes Metab Case Rep. 2017. PMID: 28620497 Free PMC article.
28 results