Details

Role Co-Group Leader / Senior Research Fellow

Research area Genomic Medicine

Group Reproductive Development

Contact

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Tucker, EJ, Gutfreund, N, Belaud‐Rotureau, M, Gilot, D, Brun, T, Kline, BL, Bell, KM, Domin‐Bernhard, M, Théard, C, Touraine, P, et al. Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency. Human Mutation 43(10) : 1443 -1453 2022
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Sreenivasan, R, Bell, K, van den Bergen, J, Robevska, G, Belluoccio, D, Dahiya, R, Leong, GM, Dulon, J, Touraine, P, Tucker, EJ, et al. Whole exome sequencing reveals copy number variants in individuals with disorders of sex development. Molecular and Cellular Endocrinology 546: 111570 2022
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Listyasari, NA, Robevska, G, Ayers, KL, Tan, TY, Sinclair, AH, Faradz, MH. Clinical lesson learned from genetic analysis in patients prior to surgical repair of hypospadias. Asian Journal of Urology 9(2) : 186 -189 2022
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Tucker, EJ, Bell, KM, Robevska, G, van den Bergen, J, Ayers, KL, Listyasari, N, Faradz, SM, Dulon, J, Bakhshalizadeh, S, Sreenivasan, R, et al. Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes. European Journal of Human Genetics 30(2) : 219 -228 2022
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Zamani, A, Walker, AK, Rollo, B, Ayers, KL, Farah, R, O'Brien, TJ, Wright, DK. Early and progressive dysfunction revealed by in vivo neurite imaging in the rNLS8 TDP-43 mouse model of ALS. NeuroImage Clinical 34: 103016 2022
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