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

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

Familial bilateral cryptorchidism is caused by recessive variants in RXFP2

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

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

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

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

Autor 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.
Vydáno v Hum Genomics (2017)

A citizen science model for implementing statewide educational DNA barcoding

Autor 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
Vydáno v 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...

Autor 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
Vydáno v 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

Autor 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
Vydáno v 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

Autor 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.
Vydáno v Int J Pediatr Endocrinol (2018)

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

Autor 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.
Vydáno v Stem Cell Reports (2020)

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

Autor 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.
Vydáno v Hum Mutat (2018)

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

Autor 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
Vydáno v Nat Commun (2018)

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

Autor 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
Vydáno v Nat Commun (2019)

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

Autor 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
Vydáno v PLoS One (2020)

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

Autor 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.
Vydáno v Hum Mutat (2017)

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

Autor 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.
Vydáno v Mol Genet Genomic Med (2020)

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

Autor 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.
Vydáno v Genome Biol (2016)