-
Ferreira, LGA, Kizys, MML, Gama, GAC, Pachernegg, S, Robevska, G, Sinclair, AH, Ayers, KL, Dias-da-Silva, MR.
COUP-TFII regulates early bipotential gonad signaling and commitment to ovarian progenitors.
Cell & Bioscience
14(1)
:
3
2024
view publication
-
Bakhshalizadeh, S, Hock, DH, Siddall, NA, Kline, BL, Sreenivasan, R, Bell, KM, Casagranda, F, Kamalanathan, S, Sahoo, J, Narayanan, N, et al.
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.
Human Genetics
142(7)
:
879 -907
2023
view publication
-
Thomson, E, Tran, M, Robevska, G, Ayers, K, van der Bergen, J, Bhaskaran, PG, Haan, E, Cereghini, S, Vash-Margita, A, Margetts, M, et al.
Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer–Rokitansky–Küster–Hauser syndrome.
Human Molecular Genetics
32(6)
:
1032 -1047
2023
view publication
-
Robevska, G, Hanna, C, van den Bergen, J, Welch, J, Couper, J, Harris, S, Joshi, K, Brown, J, Sabin, M, Sinclair, A, et al.
Genetic Variants in SRD5A2 in a Spectrum of DSD Patients from Australian Clinics Highlight Importance of Genetic Testing alongside Typical First-Line Investigations.
Sexual Development
17(1)
:
8 -15
2023
view publication
-
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)
:
3328 -3340
2022
view publication