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E

Elena J. Tucker

Murdoch Children's Research Institute
H指数:26
被引数:2,849

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SWS1-complex in premature ovarian insufficiency: SWSAP1 as a new POI gene

POI（早发性卵巢功能不全）中的SWS1复合体：SWSAP1作为一个新的POI基因

HUMAN REPRODUCTION
IF6.1
2025-09-010
PRE
Lokchine, Anna; Zhang, Fang; Cluzeau, Laurence; Le Page, Lorrie; Belaud-Rotureau, Marc-Antoine; Planes, Marc; Mary, Laura; Esvant, Annabelle; Launay, Erika; Fergus-Mackie, Jaidah; Nouyou, Benedicte; Metayer-Amelot, Laure; Akloul, Linda; Marijon, Pierre; Carre, Wilfrid; Cuny, Ariane; Dybal, Elisa; Duros, Solene; Domin-Bernhard, Mathilde; Christin-Maitre, Sophie; Odent, Sylvie; Vialard, Francois; Tucker, Elena J.; Jasin, Maria; Jaillard, Sylvie
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency
HUMAN GENETICS
IF3.6
2023-05-0613
OAAI
Bakhshalizadeh, Shabnam; Hock, Daniella. H. H.; Siddall, Nicole. A. A.; Kline, Brianna. L. L.; Sreenivasan, Rajini; Bell, Katrina. M. M.; Casagranda, Franca; Kamalanathan, Sadishkumar; Sahoo, Jayaprakash; Narayanan, Niya; Naik, Dukhabandhu; Suryadevara, Varun; Compton, Alison. G. G.; Amarasekera, Sumudu S. C.; Kapoor, Ridam; Jaillard, Sylvie; Simpson, Andrea; Robevska, Gorjana; van den Bergen, Jocelyn; Pachernegg, Svenja; Ayers, Katie. L. L.; Thorburn, David. R. R.; Stroud, David. A. A.; Hime, Gary. R. R.; Sinclair, Andrew. H. H.; Tucker, Elena. J. J.
LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss

在没有明显听力损失的情况下，LARS2变异可能表现为卵巢功能不全。

EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2022-12-0114
OA
Neyroud, Anne Sophie; Rudinger-Thirion, Joelle; Frugier, Magali; Riley, Lisa G.; Bidet, Maud; Akloul, Linda; Simpson, Andrea; Gilot, David; Christodoulou, John; Ravel, Celia; Sinclair, Andrew H.; Belaud-Rotureau, Marc-Antoine; Tucker, Elena J.; Jaillard, Sylvie
Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
IF5.1
2022-09-0915
OA
Tucker, Elena J.; Baker, Megan J.; Hock, Daniella H.; Warren, Julia T.; Jaillard, Sylvie; Bell, Katrina M.; Sreenivasan, Rajini; Bakhshalizadeh, Shabnam; Hanna, Chloe A.; Caruana, Nikeisha J.; Wortmann, Saskia B.; Rahman, Shamima; Pitceathly, Robert D. S.; Donadieu, Jean; Alimi, Aurelia; Launay, Vincent; Coppo, Paul; Christin-Maitre, Sophie; Robevska, Gorjana; van den Bergen, Jocelyn; Kline, Brianna L.; Ayers, Katie L.; Stewart, Phoebe N.; Stroud, David A.; Stojanovski, Diana; Sinclair, Andrew H.
Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiency
HUMAN MOLECULAR GENETICS
IF3.2
2022-02-033
OA
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
Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2021-10-2829
OA
Tucker, Elena J.; Bell, Katrina M.; Robevska, Gorjana; van den Bergen, Jocelyn; Ayers, Katie L.; Listyasari, Nurin; Faradz, Sultana Mh; Dulon, Jerome; Bakhshalizadeh, Shabnam; Sreenivasan, Rajini; Nouyou, Benedicte; Carre, Wilfrid; Akloul, Linda; Duros, Solene; Domin-Bernhard, Mathilde; Belaud-Rotureau, Marc-Antoine; Touraine, Philippe; Jaillard, Sylvie; Sinclair, Andrew H.

研究方向

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A
Andrew Sinclair
H 指数:66论文数:448被引数:1.9万
K
Katie Ayers
H 指数:32论文数:117被引数:3,085
G
Gorjana Robevska
H 指数:22论文数:56被引数:1,556
A
Alison G. Compton
H 指数:32论文数:79被引数:4,733
S
Sylvie Jaillard
H 指数:33论文数:144被引数:3,492
D
David R. Thorburn
H 指数:77论文数:389被引数:2.3万
K
Katrina M. Bell
H 指数:31论文数:105被引数:3,394
J
Jocelyn van den Bergen
H 指数:17论文数:44被引数:1,187
J
John Christodoulou
H 指数:77论文数:541被引数:2.7万
R
Rajini Sreenivasan
H 指数:20论文数:43被引数:2,164