-
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
view publication
-
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
view publication
-
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
view publication
-
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
view publication
-
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
view publication