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Tucker, EJ, Baker, MJ, Hock, DH, Warren, JT, Jaillard, S, Bell, KM, Sreenivasan, R, Bakhshalizadeh, S, Hanna, CA, Caruana, NJ, et al.
Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights.
The Journal of Clinical Endocrinology & Metabolism
107(12)
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3328 -3340
2022
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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)
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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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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, 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)
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227 -233
2021
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