Identification of variants in pleiotropic genes causing “isolated” premature ovarian insufficiency: implications for medical practice

by Tucker, Elena J., Grover, Sonia R., Robevska, Gorjana, van den Bergen, Jocelyn, Hanna, Chloe, Sinclair, Andrew H.
Published in Eur J Hum Genet (2018)

Familial bilateral cryptorchidism is caused by recessive variants in RXFP2

by Ayers, Katie, Kumar, Rakesh, Robevska, Gorjana, Bruell, Shoni, Bell, Katrina, Malik, Muneer A, Bathgate, Ross A, Sinclair, Andrew
Published in J Med Genet (2019)

A Modular Approach to Assembly of Totally Synthetic Self-adjuvanting Lipopeptide-based Vaccines Allows Conformational Epitope Building

by Zeng, Weiguang, Horrocks, Kylie J., Robevska, Gorjana, Wong, Chinn Yi, Azzopardi, Kristy, Tauschek, Marija, Robins-Browne, Roy M., Jackson, David C.
Published 2011

Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys

by Ayers, Katie L., Bouty, Aurore, Robevska, Gorjana, van den Bergen, Jocelyn A., Juniarto, Achmad Zulfa, Listyasari, Nurin Aisyiyah, Sinclair, Andrew H., Faradz, Sultana M. H.
Published in Hum Genomics (2017)

A citizen science model for implementing statewide educational DNA barcoding

by Chiovitti, Anthony, Thorpe, Frazer, Gorman, Christopher, Cuxson, Jennifer L., Robevska, Gorjana, Szwed, Christopher, Duncan, Jacinta C., Vanyai, Hannah K., Cross, Joseph, Siemering, Kirby R., Sumner, Joanna
Published in PLoS One (2019)

Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46, XY diff...

by Ayers, Katie, van den Bergen, Jocelyn, Robevska, Gorjana, Listyasari, Nurin, Raza, Jamal, Atta, Irum, Riedl, Stefan, Rothacker, Karen, Choong, Catherine, Faradz, Sultana M H, Sinclair, Andrew
Published in J Med Genet (2019)

Functional Characterization of Two New Variants in the Bone Morphogenetic Protein 7 Prodomain in Two Pairs of Monozygotic Twins With Hypospadias

by Bouty, Aurore, Walton, Kelly, Listyasari, Nurin Aisyiyah, Robevska, Gorjana, Van den Bergen, Jocelyn, Santosa, Ardy, Faradz, Sultana M H, Harrison, Craig, Ayers, Katie L, Sinclair, Andrew H
Published in J Endocr Soc (2019)

A novel, homozygous mutation in desert hedgehog (DHH) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report

by Rothacker, Karen M., Ayers, Katie L., Tang, Dave, Joshi, Kiranjit, van den Bergen, Jocelyn A., Robevska, Gorjana, Samnakay, Naeem, Nagarajan, Lakshmi, Francis, Kate, Sinclair, Andrew H., Choong, Catherine S.
Published in Int J Pediatr Endocrinol (2018)

An In Vitro Differentiation Protocol for Human Embryonic Bipotential Gonad and Testis Cell Development

by Knarston, Ingrid M., Pachernegg, Svenja, Robevska, Gorjana, Ghobrial, Irene, Er, Pei Xuan, Georges, Elizabeth, Takasato, Minoru, Combes, Alexander N., Jørgensen, Anne, Little, Melissa H., Sinclair, Andrew H., Ayers, Katie L.
Published in Stem Cell Reports (2020)

NR5A1 gene variants repress the ovarian‐specific WNT signaling pathway in 46,XX disorders of sex development patients

by Knarston, Ingrid M., Robevska, Gorjana, van den Bergen, Jocelyn A, Eggers, Stefanie, Croft, Brittany, Yates, Jason, Hersmus, Remko, Looijenga, Leendert H. J., Cameron, Fergus J., Monhike, Klaus, Ayers, Katie L., Sinclair, Andrew H.
Published in Hum Mutat (2018)

Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

by Croft, Brittany, Ohnesorg, Thomas, Hewitt, Jacqueline, Bowles, Josephine, Quinn, Alexander, Tan, Jacqueline, Corbin, Vincent, Pelosi, Emanuele, van den Bergen, Jocelyn, Sreenivasan, Rajini, Knarston, Ingrid, Robevska, Gorjana, Vu, Dung Chi, Hutson, John, Harley, Vincent, Ayers, Katie, Koopman, Peter, Sinclair, Andrew
Published in Nat Commun (2018)

Author Correction: Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

by Croft, Brittany, Ohnesorg, Thomas, Hewitt, Jacqueline, Bowles, Josephine, Quinn, Alexander, Tan, Jacqueline, Corbin, Vincent, Pelosi, Emanuele, van den Bergen, Jocelyn, Sreenivasan, Rajini, Knarston, Ingrid, Robevska, Gorjana, Vu, Dung Chi, Hutson, John, Harley, Vincent, Ayers, Katie, Koopman, Peter, Sinclair, Andrew
Published in Nat Commun (2019)

The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice

by Bagheri-Fam, Stefan, Chen, Huijun, Wilson, Sean, Ayers, Katie, Hughes, James, Sloan-Bena, Frederique, Calvel, Pierre, Robevska, Gorjana, Puisac, Beatriz, Kusz-Zamelczyk, Kamila, Gimelli, Stefania, Spik, Anna, Jaruzelska, Jadwiga, Warenik-Szymankiewicz, Alina, Faradz, Sultana, Nef, Serge, Pié, Juan, Thomas, Paul, Sinclair, Andrew, Wilhelm, Dagmar
Published in PLoS One (2020)

Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development

by Robevska, Gorjana, van den Bergen, Jocelyn A., Ohnesorg, Thomas, Eggers, Stefanie, Hanna, Chloe, Hersmus, Remko, Thompson, Elizabeth M., Baxendale, Anne, Verge, Charles F., Lafferty, Antony R., Marzuki, Nanis S., Santosa, Ardy, Listyasari, Nurin A., Riedl, Stefan, Warne, Garry, Looijenga, Leendert, Faradz, Sultana, Ayers, Katie L., Sinclair, Andrew H.
Published in Hum Mutat (2017)

Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development

by van den Bergen, Jocelyn A., Robevska, Gorjana, Eggers, Stefanie, Riedl, Stefan, Grover, Sonia R., Bergman, Philip B., Kimber, Chris, Jiwane, Ashish, Khan, Sophy, Krausz, Csilla, Raza, Jamal, Atta, Irum, Davis, Susan R., Ono, Makato, Harley, Vincent, Faradz, Sultana M. H., Sinclair, Andrew H., Ayers, Katie L.
Published in Mol Genet Genomic Med (2020)

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

by Eggers, Stefanie, Sadedin, Simon, van den Bergen, Jocelyn A., Robevska, Gorjana, Ohnesorg, Thomas, Hewitt, Jacqueline, Lambeth, Luke, Bouty, Aurore, Knarston, Ingrid M., Tan, Tiong Yang, Cameron, Fergus, Werther, George, Hutson, John, O’Connell, Michele, Grover, Sonia R., Heloury, Yves, Zacharin, Margaret, Bergman, Philip, Kimber, Chris, Brown, Justin, Webb, Nathalie, Hunter, Matthew F., Srinivasan, Shubha, Titmuss, Angela, Verge, Charles F., Mowat, David, Smith, Grahame, Smith, Janine, Ewans, Lisa, Shalhoub, Carolyn, Crock, Patricia, Cowell, Chris, Leong, Gary M., Ono, Makato, Lafferty, Antony R., Huynh, Tony, Visser, Uma, Choong, Catherine S., McKenzie, Fiona, Pachter, Nicholas, Thompson, Elizabeth M., Couper, Jennifer, Baxendale, Anne, Gecz, Jozef, Wheeler, Benjamin J., Jefferies, Craig, MacKenzie, Karen, Hofman, Paul, Carter, Philippa, King, Richard I., Krausz, Csilla, van Ravenswaaij-Arts, Conny M. A., Looijenga, Leendert, Drop, Sten, Riedl, Stefan, Cools, Martine, Dawson, Angelika, Juniarto, Achmad Zulfa, Khadilkar, Vaman, Khadilkar, Anuradha, Bhatia, Vijayalakshmi, Dũng, Vũ Chí, Atta, Irum, Raza, Jamal, thi Diem Chi, Nguyen, Hao, Tran Kiem, Harley, Vincent, Koopman, Peter, Warne, Garry, Faradz, Sultana, Oshlack, Alicia, Ayers, Katie L., Sinclair, Andrew H.
Published in Genome Biol (2016)