Details
Role
Research Assistant
Top Publications
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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)
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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)
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219 -228
2022
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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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