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1.

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

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.

Hum Mol Genet; 32(6): 1032-1047, 2023 03 06.

Artículo en Inglés | MEDLINE | ID: mdl-36282544

2.

Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiency.

Nakagawa, Ryuichi; Takasawa, Kei; Gau, Maki; Tsuji-Hosokawa, Atsumi; Kawaji, Hideya; Murakawa, Yasuhiro; Takada, Shuji; Mikami, Masashi; Narumi, Satoshi; Fukami, Maki; Sreenivasan, Rajini; Maruyama, Tetsuo; Tucker, Elena J; Zhao, Liang; Bowles, Josephine; Sinclair, Andrew; Koopman, Peter; Hayashizaki, Yoshihide; Morio, Tomohiro; Kashimada, Kenichi.

Hum Mol Genet; 31(13): 2223-2235, 2022 07 07.

Artículo en Inglés | MEDLINE | ID: mdl-35134173

3.

Biallelic FANCA variants detected in sisters with isolated premature ovarian insufficiency.

Tucker, Elena J; Sharp, Michael F; Lokchine, Anna; Bell, Katrina M; Palmer, Catherine S; Kline, Brianna L; Robevska, Gorjana; van den Bergen, Jocelyn; Dulon, Jérôme; Stojanovski, Diana; Ayers, Katie L; Touraine, Philippe; Crismani, Wayne; Jaillard, Sylvie; Sinclair, Andrew H.

Clin Genet; 2024 May 23.

Artículo en Inglés | MEDLINE | ID: mdl-38779778

4.

Females battle to suppress their inner male.

Sinclair, Andrew; Smith, Craig.

Cell; 139(6): 1051-3, 2009 Dec 11.

Artículo en Inglés | MEDLINE | ID: mdl-20005799

5.

Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.

Bakhshalizadeh, Shabnam; Hock, Daniella H; Siddall, Nicole A; Kline, Brianna L; Sreenivasan, Rajini; Bell, Katrina M; Casagranda, Franca; Kamalanathan, Sadishkumar; Sahoo, Jayaprakash; Narayanan, Niya; Naik, Dukhabandhu; Suryadevara, Varun; Compton, Alison G; Amarasekera, Sumudu S C; Kapoor, Ridam; Jaillard, Sylvie; Simpson, Andrea; Robevska, Gorjana; van den Bergen, Jocelyn; Pachernegg, Svenja; Ayers, Katie L; Thorburn, David R; Stroud, David A; Hime, Gary R; Sinclair, Andrew H; Tucker, Elena J.

Hum Genet; 142(7): 879-907, 2023 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-37148394

6.

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

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

Clin Genet; 103(3): 277-287, 2023 03.

Artículo en Inglés | MEDLINE | ID: mdl-36349847

7.

Docosahexaenoic Acid Explains the Unexplained in Visual Transduction.

Crawford, Michael A; Sinclair, Andrew J; Wang, Yiqun; Schmidt, Walter F; Broadhurst, C Leigh; Dyall, Simon C; Horn, Larry; Brenna, J Thomas; Johnson, Mark R.

Entropy (Basel); 25(11)2023 Nov 06.

Artículo en Inglés | MEDLINE | ID: mdl-37998212

8.

Generation and mutational analysis of a transgenic mouse model of human SRY.

Thomson, Ella; Zhao, Liang; Chen, Yen-Shan; Longmuss, Enya; Ng, Ee Ting; Sreenivasan, Rajini; Croft, Brittany; Song, Xin; Sinclair, Andrew; Weiss, Michael; Koopman, Peter; Pelosi, Emanuele.

Hum Mutat; 43(3): 362-379, 2022 03.

Artículo en Inglés | MEDLINE | ID: mdl-34918413

9.

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

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; Jaillard, Sylvie.

Hum Mutat; 43(10): 1443-1453, 2022 10.

Artículo en Inglés | MEDLINE | ID: mdl-35801529

10.

Australian Genomics: A Federated Model for Integrating Genomics into Healthcare.

Stark, Zornitza; Boughtwood, Tiffany; Phillips, Peta; Christodoulou, John; Hansen, David P; Braithwaite, Jeffrey; Newson, Ainsley J; Gaff, Clara L; Sinclair, Andrew H; North, Kathryn N.

Am J Hum Genet; 105(1): 7-14, 2019 07 03.

Artículo en Inglés | MEDLINE | ID: mdl-31271757

11.

Genomic testing in premature ovarian insufficiency: proceed with caution.

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

Biol Reprod; 107(5): 1155-1158, 2022 11 14.

Artículo en Inglés | MEDLINE | ID: mdl-35908231

12.

The effects of fish oil plus vitamin D₃ intervention on non-alcoholic fatty liver disease: a randomized controlled trial.

Guo, Xiao-Fei; Wang, Chong; Yang, Ting; Ma, Wen-Jun; Zhai, Jie; Zhao, Ting; Xu, Tong-Cheng; Li, Jun; Liu, He; Sinclair, Andrew J; Li, Duo.

Eur J Nutr; 61(4): 1931-1942, 2022 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-35067753

13.

A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss.

Ullah, Farid; Rauf, Waqar; Khan, Kamal; Khan, Sheraz; Bell, Katrina M; de Oliveira, Vanessa Cristina; Tariq, Muhammad; Bakhshalizadeh, Shabnam; Touraine, Philippe; Katsanis, Nicholas; Sinclair, Andrew; He, Sijie; Tucker, Elena J; Baig, Shahid M; Davis, Erica E.

Hum Genet; 140(12): 1733-1751, 2021 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-34647195

14.

nâ-â3 Docosapentaenoic acid: the iceberg nâ-â3 fatty acid.

Ghasemi Fard, Samaneh; Cameron-Smith, David; Sinclair, Andrew J.

Curr Opin Clin Nutr Metab Care; 24(2): 134-138, 2021 03 01.

Artículo en Inglés | MEDLINE | ID: mdl-33315722

15.

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).

Tucker, Elena J; Rius, Rocio; Jaillard, Sylvie; Bell, Katrina; Lamont, Phillipa J; Travessa, André; Dupont, Juliette; Sampaio, Lurdes; Dulon, Jérôme; Vuillaumier-Barrot, Sandrine; Whalen, Sandra; Isapof, Arnaud; Stojkovic, Tanya; Quijano-Roy, Susana; Robevska, Gorjana; van den Bergen, Jocelyn; Hanna, Chloe; Simpson, Andrea; Ayers, Katie; Thorburn, David R; Christodoulou, John; Touraine, Philippe; Sinclair, Andrew H.

Hum Genet; 139(10): 1325-1343, 2020 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-32399598

16.

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

Jaillard, Sylvie; McElreavy, Kenneth; Robevska, Gorjana; Akloul, Linda; Ghieh, Farah; Sreenivasan, Rajini; Beaumont, Marion; Bashamboo, Anu; Bignon-Topalovic, Joelle; Neyroud, Anne-Sophie; Bell, Katrina; Veron-Gastard, Elisabeth; Launay, Erika; van den Bergen, Jocelyn; Nouyou, Bénédicte; Vialard, François; Belaud-Rotureau, Marc-Antoine; Ayers, Katie L; Odent, Sylvie; Ravel, Célia; Tucker, Elena J; Sinclair, Andrew H.

Mol Hum Reprod; 26(9): 665-677, 2020 09 01.

Artículo en Inglés | MEDLINE | ID: mdl-32634216

17.

Familial bilateral cryptorchidism is caused by recessive variants in RXFP2.

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

J Med Genet; 56(11): 727-733, 2019 11.

Artículo en Inglés | MEDLINE | ID: mdl-31167797

18.

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.

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.

J Med Genet; 56(7): 434-443, 2019 07.

Artículo en Inglés | MEDLINE | ID: mdl-31018998

19.

Effects of dietary fat on gut microbiota and faecal metabolites, and their relationship with cardiometabolic risk factors: a 6-month randomised controlled-feeding trial.

Wan, Yi; Wang, Fenglei; Yuan, Jihong; Li, Jie; Jiang, Dandan; Zhang, Jingjing; Li, Hao; Wang, Ruoyi; Tang, Jun; Huang, Tao; Zheng, Jusheng; Sinclair, Andrew J; Mann, Jim; Li, Duo.

Gut; 68(8): 1417-1429, 2019 08.

Artículo en Inglés | MEDLINE | ID: mdl-30782617

20.

TP63-truncating variants cause isolated premature ovarian insufficiency.

Tucker, Elena J; Jaillard, Sylvie; Grover, Sonia R; van den Bergen, Jocelyn; Robevska, Gorjana; Bell, Katrina M; Sadedin, Simon; Hanna, Chloe; Dulon, Jérôme; Touraine, Philippe; Sinclair, Andrew H.

Hum Mutat; 40(7): 886-892, 2019 07.

Artículo en Inglés | MEDLINE | ID: mdl-30924587

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