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Details

Role Co-Group Leader / Senior Research Fellow
Research area Genomic Medicine
Group Reproductive Development

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Top Publications

  • Jaillard, S, Sreenivasan, R, Beaumont, M, Robevska, G, Dubourg, C, Knarston, IM, Akloul, L, van den Bergen, J, Odent, S, Croft, B, et al. Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility. Maturitas 131: 78 -86 2020
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  • Bouty, A, Walton, K, Listyasari, NA, Robevska, G, Van den Bergen, J, Santosa, A, Faradz, SMH, Harrison, C, Ayers, KL, Sinclair, AH. Functional Characterization of Two New Variants in the Bone Morphogenetic Protein 7 Prodomain in Two Pairs of Monozygotic Twins With Hypospadias. Journal of the Endocrine Society 3(4) : 814 -824 2019
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  • Knarston, IM, Robevska, G, Bergen, JAD, Eggers, S, Croft, B, Yates, J, Hersmus, R, Looijenga, LHJ, Cameron, FJ, Monhike, K, et al. Cover Image, Volume 40, Issue 2. Human Mutation 40(2) : i -i 2019
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  • Backhouse, B, Hanna, C, Robevska, G, van den Bergen, J, Pelosi, E, Simons, C, Koopman, P, Juniarto, AZ, Grover, S, Faradz, et al. Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic Approaches. Sexual Development 13(1) : 26 -34 2019
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  • Rothacker, KM, Ayers, KL, Tang, D, Joshi, K, van den Bergen, JA, Robevska, G, Samnakay, N, Nagarajan, L, Francis, K, Sinclair, AH, et al. A novel, homozygous mutation in desert hedgehog (DHH) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report. International Journal of Pediatric Endocrinology 2018(1) : 2 2018
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