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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.
Ecology and Evolution|February 7, 2022
Pieces in a global puzzle: Population genetics at two whale shark aggregations in the western Indian OceanRoyale S Hardenstine, Song He, Jesse E M Cochran, 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 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.
Ecology and Evolution|June 4, 2020
Population genomic response to geographic gradients by widespread and endemic fishes of the Arabian PeninsulaJoseph D DiBattista, Pablo Saenz-Agudelo, Marek J Piatek, 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.
Molecular Human Reproduction|July 8, 2020
STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermiaSylvie Jaillard, Kenneth McElreavy, Gorjana Robevska, et al.
Plos One|April 24, 2024
Protecting Great Barrier Reef resilience through effective management of crown-of-thorns starfish outbreaksSamuel A Matthews, David H Williamson, Roger Beeden, et al.
Human Genetics|May 6, 2023
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiencyShabnam Bakhshalizadeh, Daniella H Hock, Nicole A Siddall, et al.
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