1. Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46, XY disorders of sex development. Issue 3 (21st January 2020) Authors: 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.; Aye... Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 3(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Cover Image, Volume 40, Issue 2. Issue 2 (10th January 2019) Authors: 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. Journal: Human mutation Issue: Volume 40:Issue 2(2019) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort. Issue 1 (December 2016) Authors: Eggers, Stefanie; Sadedin, Simon; van den Bergen, Jocelyn; Robevska, Gorjana; Ohnesorg, Thomas; Hewitt, Jacqueline; Lambeth, Luke; Bouty, Aurore; Knarston, Ingrid; Tan, Tiong; Cameron, Fergus; Werther, George; Hutson, John; O'Connell, Michele; Grover, Sonia; Heloury, Yves; Zacharin, Margaret; Ber... Journal: Genome biology Issue: Volume 17:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency. Issue 10 (29th July 2022) Authors: Tucker, Elena J.; Gutfreund, Niklas; Belaud‐Rotureau, Marc‐Antoine; Gilot, David; Brun, Tiffany; Kline, Brianna L.; Bell, Katrina M.; Domin‐Bernhard, Mathilde; Théard, Camille; Touraine, Philippe; Robevska, Gorjana; van van den Bergen, Jocelyn; Ayers, Katie L.; Sinclair, Andrew H.; Dötsch, Volker... Journal: Human mutation Issue: Volume 43:Issue 10(2022) Page Start: 1443 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Familial bilateral cryptorchidism is caused by recessive variants in RXFP2. Issue 11 (5th June 2019) Authors: Ayers, Katie; Kumar, Rakesh; Robevska, Gorjana; Bruell, Shoni; Bell, Katrina; Malik, Muneer A; Bathgate, Ross A; Sinclair, Andrew Journal: Journal of medical genetics Issue: Volume 56:Issue 11(2019) Page Start: 727 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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 differences of sex development. Issue 7 (24th April 2019) Authors: 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 Journal: Journal of medical genetics Issue: Volume 56:Issue 7(2019) Page Start: 434 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development. Issue 1 (2nd November 2017) Authors: 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, Leender... Journal: Human mutation Issue: Volume 39:Issue 1(2018) Page Start: 124 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer–Rokitansky–Küster–Hauser syndrome. Issue 6 (25th October 2022) Authors: Thomson, Ella; Tran, Minh; Robevska, Gorjana; Ayers, Katie; van der Bergen, Jocelyn; Gopalakrishnan Bhaskaran, Prarthna; Haan, Eric; Cereghini, Silvia; Vash-Margita, Alla; Margetts, Miranda; Hensley, Alison; Nguyen, Quan; Sinclair, Andrew; Koopman, Peter; Pelosi, Emanuele Journal: Human molecular genetics Issue: Volume 32:Issue 6(2023) Page Start: 1032 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Genetic Analysis Reveals Complete Androgen Insensitivity Syndrome in Female Children Surgically Treated for Inguinal Hernia. Issue 2 (7th February 2021) Authors: Listyasari, Nurin A.; Robevska, Gorjana; Santosa, Ardy; Bouty, Aurore; Juniarto, AZ; van den Bergen, Jocelyn; Ayers, Katie L.; Sinclair, Andrew H.; Faradz, Sultana MH Journal: Journal of investigative surgery Issue: Volume 34:Issue 2(2021) Page Start: 227 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing. (November 2020) Authors: Jaillard, Sylvie; Bell, Katrina; Akloul, Linda; Walton, Kelly; McElreavy, Kenneth; Stocker, William A.; Beaumont, Marion; Harrisson, Craig; Jääskeläinen, Tiina; Palvimo, Jorma J.; Robevska, Gorjana; Launay, Erika; Satié, Anne-Pascale; Listyasari, Nurin; Bendavid, Claude; Sreenivasan, Rajini; Duro... Journal: Maturitas Issue: Volume 141(2020) Page Start: 9 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗