Details

Role Co-Group Leader / Senior Research Fellow

Research area Genomic Medicine

Group Reproductive Development

Contact

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Robevska, G, van den Bergen, JA, Ohnesorg, T, Eggers, S, Hanna, C, Hersmus, R, Thompson, EM, Baxendale, A, Verge, CF, Lafferty, AR, et al. Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development. Human Mutation 39(1) : 124 -139 2018
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Ohnesorg, T, Bergen, JA, Belluoccio, D, Shankara‐Narayana, N, Kean, A, Vasilaras, A, Ewans, L, Ayers, KL, Sinclair, AH. A duplication in a patient with 46,XX ovo‐testicular disorder of sex development refines the SOX9 testis‐specific regulatory region to 24 kb. Clinical Genetics 92(3) : 347 -349 2017
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Eggers, S, Sadedin, S, van den Bergen, JA, Robevska, G, Ohnesorg, T, Hewitt, J, Lambeth, L, Bouty, A, Knarston, IM, Tan, TY, et al. Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort. Genome Biology 17(1) : 243 2016
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Knarston, I, Ayers, K, Sinclair, A. Molecular mechanisms associated with 46,XX disorders of sex development.. Clinical Science 130(6) : 421 -432 2016
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Ayers, KL, Lambeth, LS, Davidson, NM, Sinclair, AH, Oshlack, A, Smith, CA. Identification of candidate gonadal sex differentiation genes in the chicken embryo using RNA-seq. BMC Genomics 16(1) : 704 2015
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