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Details

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

Contact

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Top Publications

  • Listyasari, NA, Juniarto, AZ, Robevska, G, Ayers, KL, Sinclair, AH, Faradz, SMH. Analysis of the androgen receptor (AR) gene in a cohort of Indonesian undermasculinized 46, XY DSD patients. Egyptian Journal of Medical Human Genetics 22(1) : 14 2021
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  • Listyasari, NA, Robevska, G, Santosa, A, Bouty, A, Juniarto, AZ, van den Bergen, J, Ayers, KL, Sinclair, AH, Faradz, SM. Genetic Analysis Reveals Complete Androgen Insensitivity Syndrome in Female Children Surgically Treated for Inguinal Hernia. Journal of Investigative Surgery 34(2) : 227 -233 2021
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  • Jaillard, S, Bell, K, Akloul, L, Walton, K, McElreavy, K, Stocker, WA, Beaumont, M, Harrisson, C, Jääskeläinen, T, Palvimo, JJ, et al. New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing. Maturitas 141: 9 -19 2020
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  • Tucker, EJ, Rius, R, Jaillard, S, Bell, K, Lamont, PJ, Travessa, A, Dupont, J, Sampaio, L, Dulon, J, Vuillaumier-Barrot, S, et al. Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM). Human Genetics 139(10) : 1325 -1343 2020
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  • Jaillard, S, McElreavy, K, Robevska, G, Akloul, L, Ghieh, F, Sreenivasan, R, Beaumont, M, Bashamboo, A, Bignon-Topalovic, J, Neyroud, A-S, et al. STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia.. Molecular Human Reproduction 26(9) : 665 -677 2020
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