Andrew Sinclair

Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.

Zornitza Stark, Tiffany Boughtwood, Matilda Haas, Jeffrey Braithwaite, Clara L Gaff, Ilias Goranitis, Amanda B Spurdle, David P Hansen, Oliver Hofmann, Nigel Laing, Sylvia Metcalfe, Ainsley J Newson, Hamish S Scott, Natalie Thorne, Robyn L Ward, Marcel E Dinger, Stephanie Best, Janet C Long, Sean M Grimmond, John Pearson, et al.

Journal article  |  2023  |  Am J Hum Genet

Australian Genomics is a national collaborative partnership of more than 100 organizations piloting a whole-of-system approach to ..

Genetic Variants in SRD5A2 in a Spectrum of DSD Patients from Australian Clinics Highlight Importance of Genetic Testing alongside Typical First-Line Investigations

Gorjana Robevska, Chloe Hanna, Jocelyn van den Bergen, John Welch, Jennifer Couper, Shannon Harris, Kriti Joshi, Justin Brown, Matthew Sabin, Andrew Sinclair, Michele O'Connell, Katie Ayers

Journal article  |  2023  |  SEXUAL DEVELOPMENT

INTRODUCTION: Steroid 5-alpha reductase deficiency (5α-R2D) is a rare condition caused by genetic variants that reduce the activit..

LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss

Anne Sophie Neyroud, Joelle Rudinger-Thirion, Magali Frugier, Lisa G Riley, Maud Bidet, Linda Akloul, Andrea Simpson, David Gilot, John Christodoulou, Celia Ravel, Andrew H Sinclair, Marc-Antoine Belaud-Rotureau, Elena J Tucker, Sylvie Jaillard

Journal article  |  2022  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Premature ovarian insufficiency (POI) affects 1 in 100 women and is a leading cause of female infertility. There are over 80 genes..

FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination

Brittany Croft, Anthony D Bird, Makoto Ono, Stefanie Eggers, Stefan Bagheri-Fam, Janelle M Ryan, Alejandra P Reyes, Jocelyn van den Bergen, Anne Baxendale, Elizabeth M Thompson, Andrew J Kueh, Peter Stanton, Tim Thomas, Andrew H Sinclair, Vincent R Harley

Journal article  |  2022  |  CLINICAL GENETICS

46,XY gonadal dysgenesis (GD) is a Disorder/Difference of Sex Development (DSD) that can present with phenotypes ranging from ambi..

Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency

Brianna L Kline, Sylvie Jaillard, Katrina M Bell, Shabnam Bakhshalizadeh, Gorjana Robevska, Jocelyn van den Bergen, Jerome Dulon, Katie L Ayers, John Christodoulou, Michel C Tchan, Philippe Touraine, Andrew H Sinclair, Elena J Tucker

Journal article  |  2022  |  GENES

The mitochondrial ribosome is critical to mitochondrial protein synthesis. Defects in both the large and small subunits of the mit..

Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer-Rokitansky-Kuster-Hauser syndrome

Ella Thomson, Minh Tran, Gorjana Robevska, Katie Ayers, Jocelyn van der Bergen, Prarthna Gopalakrishnan Bhaskaran, Eric Haan, Silvia Cereghini, Alla Vash-Margita, Miranda Margetts, Alison Hensley, Quan Nguyen, Andrew Sinclair, Peter Koopman, Emanuele Pelosi

Journal article  |  2022  |  HUMAN MOLECULAR GENETICS

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital condition characterized by aplasia or hypoplasia of the uterus and ..

Genetics of Differences of Sex Development

Ken McElreavey, Andrew Sinclair

Journal article  |  2022  |  SEXUAL DEVELOPMENT

Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights

Elena J Tucker, Megan J Baker, Daniella H Hock, Julia T Warren, Sylvie Jaillard, Katrina M Bell, Rajini Sreenivasan, Shabnam Bakhshalizadeh, Chloe A Hanna, Nikeisha J Caruana, Saskia B Wortmann, Shamima Rahman, Robert DS Pitceathly, Jean Donadieu, Aurelia Alimi, Vincent Launay, Paul Coppo, Sophie Christin-Maitre, Gorjana Robevska, Jocelyn van den Bergen, et al.

Journal article  |  2022  |  JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

CONTEXT: Premature ovarian insufficiency (POI) is a common form of female infertility that usually presents as an isolated conditi..

Genomic testing in premature ovarian insufficiency: proceed with caution

Elena J Tucker, Tiong Y Tan, Zornitza Stark, Andrew H Sinclair

Journal article  |  2022  |  BIOLOGY OF REPRODUCTION

Genomic testing has the potential to transform outcomes for women with infertility conditions, such as premature ovarian insuffici..

Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency

Elena J Tucker, Niklas Gutfreund, Marc-Antoine Belaud-Rotureau, David Gilot, Tiffany Brun, Brianna L Kline, Katrina M Bell, Mathilde Domin-Bernhard, Camille Theard, Philippe Touraine, Gorjana Robevska, Jocelyn van van den Bergen, Katie L Ayers, Andrew H Sinclair, Volker Doetsch, Sylvie Jaillard

Journal article  |  2022  |  HUMAN MUTATION

Premature ovarian insufficiency (POI) is a leading form of female infertility, characterised by menstrual disturbance and elevated..