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SaveCERT1 mutations perturb human development by disrupting sphingolipid homeostasis (Vol 135, e200195, 2025)
Gehin, Charlotte; Lone, Museer A.; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M.; Gerkes, Erica H.; Stegmann, Alexander P. A.; Lopez-Martin, Estrella; Bermejo-Sanchez, Eva; Martinez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Grafe, Daniel; Knerr, Ina; Jones, Eppie R.; Zamuner, Stefano; Abriata, Luciano A.; Kunnathully, Vidya; Moeller, Brandon E.; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; Van Bon, Bregje W.; Pfundt, Rolph; Willemsen, Marjolein H.; Schieving, Jolanda H.; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R.; Beier, Christoph P.; Larsen, Martin J.; Valenzuela, Irene; Fernandez-Alvarez, Paula; Xiong, Shiyi; Smigiel, Robert; Lopez-Gonzalez, Vanesa; Armengol, Lluis; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S.; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Mau-Them, Frederic Tran; Maddocks, Alexis B. R.; Bain, Jennifer M.; Bhat, Musadiq A.; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L.; Friez, Michael J.; Richardson, Ellen B.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Gupta, Yask; Lim, Tze Y.; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E.; Jaksic, Ana Marija; Mccabe, Brian D.; De Los Rios, Paolo; Hornemann, Thorsten; D'angelo, Giovanni; Gennarino, Vincenzo A.
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SaveDysfunctional Alternative Polyadenylation Modifies the Penetrance of LRRK2 Variants in Parkinson's Disease
Yang, Songyu; Zhu, Yixiao; Yu, Pei; Huang, Yuanfeng; Wang, Zheng; Wang, Yijing; Zhou, Qiao; Zhang, Yu; Li, Bin; Zhao, Guihu; Guo, Jifeng; Xia, Kun; Tang, Beisha; Li, Jinchen
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SaveGene4Denovo2: an updated platform for human de novo mutations discovery and interpretation
Zhu, Zhaopo; Yu, Pei; Mao, Xinxin; Liu, Chenbin; Li, Kuokuo; Zhou, Qiao; Wang, Yijing; Luo, Tengfei; Xiang, Xudong; Zhu, Yixiao; Wu, Dai; Jian, Xingxing; Li, Bin; Tang, Beisha; Xia, Kun; Zhao, Guihu; Li, Jinchen
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SaveA PheWAS approach to identify associations of GBA1 variants with comprehensive phenotypes beyond neurological diseases
Yang, Jiaqi; Huang, Yuanfeng; Wang, Zheng; Zhang, Shiyu; Wu, Dai; Xiong, Jiayi; Wu, Heng; Wang, Yijing; Zhou, Qiao; Zhu, Yixiao; Zhao, Guihu; Li, Bin; Guo, Jifeng; Xia, Kun; Tang, Beisha
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SaveGoFCards: an integrated database and analytic platform for gain of function variants in humans
Zhao, Wenjing; Tao, Youfu; Xiong, Jiayi; Liu, Lei; Wang, Zhongqing; Shao, Chuhan; Shang, Ling; Hu, Yue; Xu, Yishu; Su, Yingluo; Yu, Jiahui; Feng, Tianyi; Xie, Junyi; Xu, Huijuan; Zhang, Zijun; Peng, Jiayi; Wu, Jianbin; Zhang, Yuchang; Zhu, Shaobo; Xia, Kun; Tang, Beisha; Zhao, Guihu; Li, Jinchen; Li, Bin
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SaveKCTD10 p.C124W variant contributes to schizophrenia by attenuating LLPS- mediated synapse formation
Mu, Chenjun; Liu, Pan; Liu, Liang; Wang, Yaqing; Liu, Kefu; Li, Xiangyu; Li, Guozhong; Cheng, Jianbo; Bu, Mengyao; Chen, Han; Tang, Manpei; Yao, Yuanhang; Guan, Jun; Ma, Tiantian; Zhou, Zhengrong; Wu, Qingfeng; Li, Jiada; Guo, Hui; Xia, Kun; Hu, Zhengmao; Peng, Xiaoqing; Lang, Bing; Li, Faxiang; Chen, Xiao - wei; Xu, Zhiheng; Yuan, Ling
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SaveMonoallelic loss-of-function variants in GSK3B lead to autism and developmental delay
Tan, Senwei; Zhang, Qiumeng; Zhan, Rui; Luo, Si; Han, Yaoling; Yu, Bin; Muss, Candace; Pingault, Veronique; Marlin, Sandrine; Delahaye, Andree; Peters, Sophia; Perne, Claudia; Kreiss, Martina; Spataro, Nino; Trujillo-Quintero, Juan Pablo; Racine, Caroline; Tran-Mau-Them, Frederic; Phornphutkul, Chanika; Besterman, Aaron D.; Martinez, Julian; Wang, Xiuxia; Tian, Xiaoyu; Srivastava, Siddharth; Urion, David K.; Madden, Jill A.; Saif, Hind Al; Morrow, Michelle M.; Begtrup, Amber; Li, Xing; Jurgensmeyer, Sarah; Leahy, Peter; Zhou, Shimin; Li, Faxiang; Hu, Zhengmao; Tan, Jieqiong; Xia, Kun; Guo, Hui
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SaveA metabolomic profile of biological aging in 250,341 individuals from the UK Biobank
Zhang, Shiyu; Wang, Zheng; Wang, Yijing; Zhu, Yixiao; Zhou, Qiao; Jian, Xingxing; Zhao, Guihu; Qiu, Jian; Xia, Kun; Tang, Beisha; Mutz, Julian; Li, Jinchen; Li, Bin
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