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Development (Cambridge, England)|February 23, 2026
The emergence of multiple testicular cell lineages in human stem cell-derived testis-like organoidsSvenja Pachernegg, Gorjana Robevska, Lucas G A Ferreira, et al.
Human Mutation|July 8, 2022
Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiencyElena J Tucker, Niklas Gutfreund, Marc-Antoine Belaud-Rotureau, et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|March 27, 2026
WT1 Deletion in 46,XY DSD: The Importance of Copy Number Variant AnalysisGabby Atlas, Katrina M Bell, Gorjana Robevska, et al.
Plos One|January 8, 2020
The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in miceStefan Bagheri-Fam, Huijun Chen, Sean Wilson, et al.
Maturitas|December 3, 2019
Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertilitySylvie Jaillard, Rajini Sreenivasan, Marion Beaumont, et al.
Biology of Reproduction|October 14, 2024
Functional characterization of human recessive DIS3 variants in premature ovarian insufficiency†Brianna L Kline, Nicole A Siddall, Fernando Wijaya, et al.
Molecular Genetics & Genomic Medicine|January 22, 2020
Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex developmentJocelyn A van den Bergen, Gorjana Robevska, Stefanie Eggers, et al.
Human Mutation|October 14, 2017
Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex developmentGorjana Robevska, Jocelyn A van den Bergen, Thomas Ohnesorg, et al.
European Journal of Human Genetics : EJHG|October 28, 2021
Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causesElena J Tucker, Katrina M Bell, Gorjana Robevska, et al.
Human Genetics|May 14, 2020
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)Elena J Tucker, Rocio Rius, Sylvie Jaillard, et al.
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