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Research Interests

Papers共 125 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
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期刊级别
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合作机构
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway
Maolei Gong, Jiayi Li,Yijun Liu, Matheus Vernet Machado Bressan Wilke,Qian Li,Haoran Liu,Chen Liang, Joel A Morales-Rosado,Ana S.A. Cohen,Susan S. Hughes,Bonnie R. Sullivan, Valerie Waddell,
medrxiv（2024）
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USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms
Intisar Koch, Maya Slovik, Yuling Zhang,Bingyu Liu,Martin Rennie, Emily Konz,Benjamin Cogne,Muhannad Daana, Laura Davids,Illja J. Diets,Nina B. Gold, Alexander M. Holtz,
LIFE SCIENCE ALLIANCEno. 3 (2024)
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PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response
Wallid Deb,Cory Rosenfelt,Virginie Vignard,Jonas Johannes Papendorf, Sophie Möller, Martin Wendlandt,Maja Studencka-Turski,Benjamin Cogné,Thomas Besnard, Léa Ruffier, Bérénice Toutain, Léa Poirier,
The American Journal of Human Genetics (2024)
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De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay
Thoa Ha,Angela Morgan, Meghan N Bartos, Katelyn Beatty,Benjamin Cogné,Dominique Braun, Céline B Gerber, Harald Gaspar, Anna M Kopps,Claudine Rieubland,Anna C E Hurst, David J Amor,
American journal of medical genetics. Part Ano. 7 (2024): e63559-e63559
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