Publications by authors named "Gorjana Robevska"

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Functional analysis of SRY variants in individuals with 46,XY differences of sex development.
Firman P Idris, Jocelyn van den Bergen, Gorjana Robevska, Lucas G A Ferreira, Karen R Ferreira

Mol Cell Endocrinol· March 2025

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Functional characterization of human recessive DIS3 variants in premature ovarian insufficiency†.
Brianna L Kline, Nicole A Siddall, Fernando Wijaya, Catherine J Stuart, Luisa Orlando, Gorjana Robevska

Biol Reprod· January 2025

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Biallelic FANCA variants detected in sisters with isolated premature ovarian insufficiency.
Elena J Tucker, Michael F Sharp, Anna Lokchine, Katrina M Bell, Catherine S Palmer, Gorjana Robevska

Clin Genet· September 2024

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Generation of heterozygous (MCRIi031-A-1) and homozygous (MCRIi031-A-2) SOX9 knockout human iPSC lines.
Svenja Pachernegg, Gorjana Robevska, Lucas G A Ferreira, Jocelyn A van den Bergen, Katerina Vlahos

Stem Cell Res· September 2024

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Generation of a homozygous (MCRIi031-A-3) WT1 knockout human iPSC line.
Svenja Pachernegg, Gorjana Robevska, Lucas G A Ferreira, Jocelyn A van den Bergen, Katerina Vlahos

Stem Cell Res· September 2024

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Diverse genetic causes of amenorrhea in an ethnically homogeneous cohort and an evolving approach to diagnosis.
Shabnam Bakhshalizadeh, Fateme Afkhami, Katrina M Bell, Gorjana Robevska, Jocelyn van den Bergen

Mol Cell Endocrinol· June 2024

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Generation of heterozygous (MCRIi030-A-1) and homozygous (MCRIi030-A-2) NR2F2/COUP-TFII knockout human iPSC lines.
Lucas G A Ferreira, Mauricio C Cabral-da-Silva, Svenja Pachernegg, Jocelyn A van den Bergen, Gorjana Robevska

Stem Cell Res· April 2024

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A Human Homozygous Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model.
Shabnam Bakhshalizadeh, Anthony D Bird, Rajini Sreenivasan, Katrina M Bell, Gorjana Robevska

Genes (Basel)· March 2024

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COUP-TFII regulates early bipotential gonad signaling and commitment to ovarian progenitors.
Lucas G A Ferreira, Marina M L Kizys, Gabriel A C Gama, Svenja Pachernegg, Gorjana Robevska

Cell Biosci· January 2024

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Genetic Variants in SRD5A2 in a Spectrum of DSD Patients from Australian Clinics Highlight Importance of Genetic Testing alongside Typical First-Line Investigations.
Gorjana Robevska, Chloe Hanna, Jocelyn van den Bergen, John Welch, Jennifer Couper

Sex Dev· August 2023

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Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.
Shabnam Bakhshalizadeh, Daniella H Hock, Nicole A Siddall, Brianna L Kline, Rajini Sreenivasan, Gorjana Robevska

Hum Genet· July 2023

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Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Katie L Ayers, Stefanie Eggers, Ben N Rollo, Katherine R Smith, Nadia M Davidson, Gorjana Robevska

Nat Commun· June 2023

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Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Katie L Ayers, Stefanie Eggers, Ben N Rollo, Katherine R Smith, Nadia M Davidson, Gorjana Robevska

Nat Commun· June 2023

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Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer-Rokitansky-Küster-Hauser syndrome.
Ella Thomson, Minh Tran, Gorjana Robevska, Katie Ayers, Jocelyn van der Bergen

Hum Mol Genet· March 2023

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Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights.
Elena J Tucker, Megan J Baker, Daniella H Hock, Julia T Warren, Sylvie Jaillard, Gorjana Robevska

J Clin Endocrinol Metab· November 2022

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Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency.
Brianna L Kline, Sylvie Jaillard, Katrina M Bell, Shabnam Bakhshalizadeh, Gorjana Robevska

Genes (Basel)· November 2022

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Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency.
Elena J Tucker, Niklas Gutfreund, Marc-Antoine Belaud-Rotureau, David Gilot, Tiffany Brun, Gorjana Robevska

Hum Mutat· October 2022

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Whole exome sequencing reveals copy number variants in individuals with disorders of sex development.
Rajini Sreenivasan, Katrina Bell, Jocelyn van den Bergen, Gorjana Robevska, Daniele Belluoccio

Mol Cell Endocrinol· April 2022

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Clinical lesson learned from genetic analysis in patients prior to surgical repair of hypospadias.
Nurin A Listyasari, Gorjana Robevska, Katie L Ayers, Tiong Yang Tan, Andrew H Sinclair

Asian J Urol· April 2022

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Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes.
Elena J Tucker, Katrina M Bell, Gorjana Robevska, Jocelyn van den Bergen, Katie L Ayers

Eur J Hum Genet· February 2022

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An In Vitro Differentiation Protocol for Human Embryonic Bipotential Gonad and Testis Cell Development.
Ingrid M Knarston, Svenja Pachernegg, Gorjana Robevska, Irene Ghobrial, Pei Xuan Er

Stem Cell Reports· December 2020

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New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing.
Sylvie Jaillard, Katrina Bell, Linda Akloul, Kelly Walton, Kenneth McElreavy, Gorjana Robevska

Maturitas· November 2020

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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, Katrina Bell, Phillipa J Lamont, Gorjana Robevska

Hum Genet· October 2020

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STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia.
Sylvie Jaillard, Kenneth McElreavy, Gorjana Robevska, Linda Akloul, Farah Ghieh

Mol Hum Reprod· September 2020

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Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development.
Jocelyn A van den Bergen, Gorjana Robevska, Stefanie Eggers, Stefan Riedl, Sonia R Grover

Mol Genet Genomic Med· March 2020

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