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

по Tucker, Elena J., Grover, Sonia R., Robevska, Gorjana, van den Bergen, Jocelyn, Hanna, Chloe, Sinclair, Andrew H.
Опубликовано в: Eur J Hum Genet (2018)

Familial bilateral cryptorchidism is caused by recessive variants in RXFP2

по Ayers, Katie, Kumar, Rakesh, Robevska, Gorjana, Bruell, Shoni, Bell, Katrina, Malik, Muneer A, Bathgate, Ross A, Sinclair, Andrew
Опубликовано в: J Med Genet (2019)

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

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

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

по 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.
Опубликовано в: Hum Genomics (2017)

A citizen science model for implementing statewide educational DNA barcoding

по 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
Опубликовано в: 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...

по 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
Опубликовано в: 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

по 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
Опубликовано в: 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

по 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.
Опубликовано в: Int J Pediatr Endocrinol (2018)

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

по 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.
Опубликовано в: Stem Cell Reports (2020)

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

по 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.
Опубликовано в: Hum Mutat (2018)

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

по 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
Опубликовано в: Nat Commun (2018)

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

по 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
Опубликовано в: Nat Commun (2019)

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

по 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
Опубликовано в: PLoS One (2020)

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

по 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.
Опубликовано в: Hum Mutat (2017)

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

по 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.
Опубликовано в: Mol Genet Genomic Med (2020)

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

по 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.
Опубликовано в: Genome Biol (2016)