1. The role of next generation sequencing in understanding male and female sexual development: clinical implications. Issue 5 (2nd September 2016) Authors: Bashamboo, Anu; McElreavey, Ken Journal: Expert review of endocrinology & metabolism Issue: Volume 11:Issue 5(2016) Page Start: 433 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Human sex-determination and disorders of sex-development (DSD). (September 2015) Authors: Bashamboo, Anu; McElreavey, Ken Journal: Seminars in cell & developmental biology Issue: Volume 45(2015) Page Start: 77 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro‐oculo‐facio‐skeletal syndrome. Issue 7 (23rd May 2019) Authors: Ben Haj Ali, Abir; Amouri, Ahlem; Sayeb, Marwa; Makni, Saloua; Hammami, Wajih; Naouali, Chokri; Dallali, Hamza; Romdhane, Lilia; Bashamboo, Anu; McElreavey, Kenneth; Abdelhak, Sonia; Messaoud, Olfa Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 7(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies. (24th January 2018) Authors: Portnoi, Marie-France; Dumargne, Marie-Charlotte; Rojo, Sandra; Witchel, Selma F; Duncan, Andrew J; Eozenou, Caroline; Bignon-Topalovic, Joelle; Yatsenko, Svetlana A; Rajkovic, Aleksandar; Reyes-Mugica, Miguel; Almstrup, Kristian; Fusee, Leila; Srivastava, Yogesh; Chantot-Bastaraud, Sandra; Hyon,... Journal: Human molecular genetics Issue: Volume 27:Number 7(2018:Apr. 01) Page Start: 1228 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination. (18th February 2014) Authors: Bashamboo, Anu; Brauner, Raja; Bignon-Topalovic, Joelle; Lortat-Jacob, Stephen; Karageorgou, Vasiliki; Lourenco, Diana; Guffanti, Alessandro; McElreavey, Ken Journal: Human molecular genetics Issue: Volume 23:Number 14(2014:Jul. 15) Page Start: 3657 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. A missense mutation in NR5A1 causing female to male sex reversal: A case report. (9th April 2020) Authors: Askari, Masomeh; Rastari, Mandana; Seresht‐Ahmadi, Mehrshad; McElreavey, Kenneth; Bashamboo, Anu; Razzaghy‐Azar, Maryam; Totonchi, Mehdi Journal: Andrologia Issue: Volume 52:Number 6(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. The evolving role of whole-exome sequencing in the management of disorders of sex development. Issue 6 (16th June 2021) Authors: Tenenbaum-Rakover, Yardena; Admoni, Osnat; Elias-Assad, Ghadir; London, Shira; Noufi-Barhoum, Marie; Ludar, Hanna; Almagor, Tal; Zehavi, Yoav; Sultan, Charles; Bertalan, Rita; Bashamboo, Anu; McElreavey, Kenneth Journal: Endocrine connections Issue: Volume 10:Issue 6(2021) Page Start: 620 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Genetics of 46, XY gonadal dysgenesis. Issue 1 (January 2022) Authors: Elzaiat, Maëva; McElreavey, Ken; Bashamboo, Anu Journal: Best practice & research Issue: Volume 36:Issue 1(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Familial forms of disorders of sex development may be common if infertility is considered a comorbidity. Issue 1 (December 2016) Authors: Brauner, Raja; Picard-Dieval, Flavia; Lottmann, Henri; Rouget, Sébastien; Bignon-Topalovic, Joelle; Bashamboo, Anu; McElreavey, Ken Journal: BMC pediatrics Issue: Volume 16:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. The TALE homeodomain of PBX1 is involved in human primary testis‐determination. Issue 8 (21st May 2019) Authors: Eozenou, Caroline; Bashamboo, Anu; Bignon‐Topalovic, Joelle; Merel, Tiphanie; Zwermann, Oliver; Lourenco, Diana; Lottmann, Henri; Lichtenauer, Urs; Rojo, Sandra; Beuschlein, Felix; McElreavey, Ken; Brauner, Raja Journal: Human mutation Issue: Volume 40:Issue 8(2019) Page Start: 1071 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗