Andrew Sinclair

Analysis of the androgen receptor (AR) gene in a cohort of Indonesian undermasculinized 46, XY DSD patients

NA Listyasari, AZ Juniarto, G Robevska, KL Ayers, AH Sinclair, SMH Faradz

Journal article  |  2021  |  Egyptian Journal of Medical Human Genetics

Background: Pathogenic variants in the androgen receptor (AR) gene located on chromosome Xq11-12, are known to cause varying degre..

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

Ingrid M Knarston, Svenja Pachernegg, Gorjana Robevska, Irene Ghobrial, Pei Xuan Er, Elizabeth Georges, Minoru Takasato, Alexander N Combes, Anne Jorgensen, Melissa H Little, Andrew H Sinclair, Katie L Ayers

Journal article  |  2020  |  STEM CELL REPORTS

Currently an in vitro model that fully recapitulates the human embryonic gonad is lacking. Here we describe a fully defined feeder..

New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing

Sylvie Jaillard, Katrina Bell, Linda Akloul, Kelly Walton, Kenneth McElreavy, William A Stocker, Marion Beaumont, Craig Harrisson, Tiina Jaaskelainen, Jorma J Palvimo, Gorjana Robevska, Erika Launay, Anne-Pascale Satie, Nurin Listyasari, Claude Bendavid, Rajini Sreenivasan, Solene Duros, Jocelyn van den Bergen, Catherine Henry, Mathilde Domin-Bernhard, et al.

Journal article  |  2020  |  MATURITAS

Ovarian deficiency, including premature ovarian insufficiency (POI) and diminished ovarian reserve (DOR), represents one of the ma..

Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)

Elena J Tucker, Rocio Rius, Sylvie Jaillard, Katrina Bell, Phillipa J Lamont, Andre Travessa, Juliette Dupont, Lurdes Sampaio, Jerome Dulon, Sandrine Vuillaumier-Barrot, Sandra Whalen, Arnaud Isapof, Tanya Stojkovic, Susana Quijano-Roy, Gorjana Robevska, Jocelyn van den Bergen, Chloe Hanna, Andrea Simpson, Katie Ayers, David R Thorburn, et al.

Journal article  |  2020  |  HUMAN GENETICS

Perrault syndrome is a rare heterogeneous condition characterised by sensorineural hearing loss and premature ovarian insufficienc..

STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia

Sylvie Jaillard, Kenneth McElreavy, Gorjana Robevska, Linda Akloul, Farah Ghieh, Rajini Sreenivasan, Marion Beaumont, Anu Bashamboo, Joelle Bignon-Topalovic, Anne-Sophie Neyroud, Katrina Bell, Elisabeth Veron-Gastard, Erika Launay, Jocelyn van den Bergen, Benedicte Nouyou, Francois Vialard, Marc-Antoine Belaud-Rotureau, Katie L Ayers, Sylvie Odent, Celia Ravel, et al.

Journal article  |  2020  |  MOLECULAR HUMAN REPRODUCTION

Infertility, a global problem affecting up to 15% of couples, can have varied causes ranging from natural ageing to the pathologic..

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

Jocelyn A van den Bergen, Gorjana Robevska, Stefanie Eggers, Stefan Riedl, Sonia R Grover, Philip B Bergman, Chris Kimber, Ashish Jiwane, Sophy Khan, Csilla Krausz, Jamal Raza, Irum Atta, Susan R Davis, Makato Ono, Vincent Harley, Sultana MH Faradz, Andrew H Sinclair, Katie L Ayers

Journal article  |  2020  |  MOLECULAR GENETICS & GENOMIC MEDICINE

BACKGROUND: GATA-binding protein 4 (GATA4) and Friend of GATA 2 protein (FOG2, also known as ZFPM2) form a heterodimer complex tha..

The molecular basis of sex determination and differentiation: Implications for understanding DSD

A Bouty, K Ayers, A Sinclair

Book Chapter  |  2020

DSD are a heterogeneous group of congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical...

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

Stefan Bagheri-Fam, Huijun Chen, Sean Wilson, Katie Ayers, James Hughes, Frederique Sloan-Bena, Pierre Calvel, Gorjana Robevska, Beatriz Puisac, Kamila Kusz-Zamelczyk, Stefania Gimelli, Anna Spik, Jadwiga Jaruzelska, Alina Warenik-Szymankiewicz, Sultana Faradz, Serge Nef, Juan Pié, Paul Thomas, Andrew Sinclair, Dagmar Wilhelm

Journal article  |  2020  |  PLoS One

Disorders/differences of sex development (DSD) cause profound psychological and reproductive consequences for the affected individ..

Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility

Sylvie Jaillard, Rajini Sreenivasan, Marion Beaumont, Gorjana Robevska, Christele Dubourg, Ingrid M Knarston, Linda Akloul, Jocelyn van den Bergen, Sylvie Odent, Brittany Croft, Guilhem Jouve, Sonia R Grover, Solene Duros, Celine Pimentel, Marc-Antoine Belaud-Rotureau, Katie L Ayers, Celia Ravel, Elena J Tucker, Andrew H Sinclair

Journal article  |  2020  |  MATURITAS

Ovarian deficiency, including diminished ovarian reserve and premature ovarian insufficiency, represents one of the main causes of..

Familial bilateral cryptorchidism is caused by recessive variants in RXFP2

Katie Ayers, Rakesh Kumar, Gorjana Robevska, Shoni Bruell, Katrina Bell, Muneer A Malik, Ross A Bathgate, Andrew Sinclair

Journal article  |  2019  |  JOURNAL OF MEDICAL GENETICS

BACKGROUND: Cryptorchidism or failure of testicular descent is the most common genitourinary birth defect in males. While both the..