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Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B) 脊髓小脑性共济失调 (SCA27B) 的大型美国队列的临床，放射学和病理学特征 Abou Chaar, Widad; Eranki, Anirudh N.; Stevens, Hannah A.; Watson, Sonya L.; Wong, Darice Y.; Avila, Veronica S.; Delfeld, Megan; Gary, Alexander J.; Tawde, Sanjukta; Triebold, Malia; Cherchi, Marcello; Xie, Tao; Lockhart, Paul J.; Bahlo, Melanie; Pellerin, David; Dicaire, Marie-Josee; Danzi, Matt; Zuchner, Stephan; Brais, Bernard C.; Perlman, Susan; Burmeister, Margit; Paulson, Henry; Srinivasan, Sharan; Schut, Lawrence; Bower, Matthew; Bushara, Khalaf; Liao, Chuanhong; Shakkottai, Vikram G.; Collins, John; Clark, H. Brent; Das, Soma; Fogel, Brent L.; Gomez, Christopher M. 分享 收藏
Lack of SPNS1 results in accumulation of lysolipids and lysosomal storage disease in mouse models Ha, Hoa T. T.; Liu, Siyi; Nguyen, Xuan T. A.; Vo, Linh K.; Leong, Nancy C. P.; Nguyen, Dat T.; Balamurugan, Shivaranjani; Lim, Pei Yen; Wu, Yajun; Seong, Eunju; Nguyen, Toan Q.; Oh, Jeongah; Wenk, Markus R.; Cazenave-Gassiot, Amaury; Yapici, Zuhal; Ong, Wei-Yi; Burmeister, Margit; Nguyen, Long N. 分享 收藏
Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders Wang, Huilun H.; Lin, Liangguang L.; Li, Zexin J.; Wei, Xiaoqiong; Askander, Omar; Cappuccio, Gerarda; Hashem, Mais O.; Hubert, Laurence; Munnich, Arnold; Alqahtani, Mashael; Pang, Qi; Burmeister, Margit; Lu, You; Poirier, Karine; Besmond, Claude; Sun, Shengyi; Brunetti-Pierri, Nicola; Alkuraya, Fowzan S.; Qi, Ling 分享 收藏
Multi-ancestry genome-wide association study of major depression aids locus discovery, fine mapping, gene prioritization and causal inference 抑郁症的多血统全基因组关联研究艾滋病基因座发现，精细定位，基因优先排序和因果推断 Meng, Xiangrui; Navoly, Georgina; Giannakopoulou, Olga; Levey, Daniel F.; Koller, Dora; Pathak, Gita A.; Koen, Nastassja; Lin, Kuang; Adams, Mark J.; Renteria, Miguel E.; Feng, Yanzhe; Gaziano, J. Michael; Stein, Dan J.; Zar, Heather J.; Campbell, Megan L.; van Heel, David A.; Trivedi, Bhavi; Finer, Sarah; McQuillin, Andrew; Bass, Nick; Chundru, V. Kartik; Martin, Hilary C.; Huang, Qin Qin; Valkovskaya, Maria; Chu, Chia-Yi; Kanjira, Susan; Kuo, Po-Hsiu; Chen, Hsi-Chung; Tsai, Shih-Jen; Liu, Yu-Li; Kendler, Kenneth S.; Peterson, Roseann E.; Cai, Na; Fang, Yu; Sen, Srijan; Scott, Laura J.; Burmeister, Margit; Loos, Ruth J. F.; Preuss, Michael H.; Actkins, Ky'Era V.; Davis, Lea K.; Uddin, Monica; Wani, Agaz H.; Wildman, Derek E.; Aiello, Allison E.; Ursano, Robert J.; Kessler, Ronald C.; Kanai, Masahiro; Okada, Yukinori; Sakaue, Saori; Rabinowitz, Jill A.; Maher, Brion S.; Uhl, George; Eaton, William; Cruz-Fuentes, Carlos S.; Martinez-Levy, Gabriela A.; Campos, Adrian I.; Millwood, Iona Y.; Chen, Zhengming; Li, Liming; Wassertheil-Smoller, Sylvia; Jiang, Yunxuan; Tian, Chao; Martin, Nicholas G.; Mitchell, Brittany L.; Byrne, Enda M.; Awasthi, Swapnil; Coleman, Jonathan R. I.; Ripke, Stephan; Sofer, Tamar; Walters, Robin G.; McIntosh, Andrew M.; Polimanti, Renato; Dunn, Erin C.; Stein, Murray B.; Gelernter, Joel; Lewis, Cathryn M.; Kuchenbaecker, Karoline 分享 收藏
Exome-wide association study of treatment-resistant depression suggests novel treatment targets Shah, Shrey B.; Peddada, Teja N.; Song, Christopher; Mensah, Maame; Sung, Heejong; Yavi, Mani; Yuan, Peixiong; Zarate, Carlos A., Jr.; Mickey, Brian J.; Burmeister, Margit; Akula, Nirmala; McMahon, Francis J. 分享 收藏
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Effectiveness of gamified team competition as mHealth intervention for medical interns: a cluster micro-randomized trial Wang, Jitao; Fang, Yu; Frank, Elena; Walton, Maureen A.; Burmeister, Margit; Tewari, Ambuj; Dempsey, Walter; NeCamp, Timothy; Sen, Srijan; Wu, Zhenke 分享 收藏
The recurrent mutation in RNF220 also causes hypomyelination in China and is a CpG hot spot Yan, Huifang; Kubisiak, Thomas; Gao, Kai; Xiao, Jiangxi; Wang, Junyu; Zhang, Yu; Wu, Ye; Jiang, Yuwu; Burmeister, Margit; Wang, Jingmin 分享 收藏
FIBCD1 is an endocytic GAG receptor associated with a novel neurodevelopmental disorder FIBCD1是一种与新型神经发育障碍相关的内吞GAG受体 Fell, Christopher W.; Hagelkruys, Astrid; Cicvaric, Ana; Horrer, Marion; Liu, Lucy; Li, Joshua Shing Shun; Stadlmann, Johannes; Polyansky, Anton A.; Mereiter, Stefan; Tejada, Miguel Angel; Kokotovic, Tomislav; Achuta, Venkat Swaroop; Scaramuzza, Angelica; Twyman, Kimberly A.; Morrow, Michelle M.; Juusola, Jane; Yan, Huifang; Wang, Jingmin; Burmeister, Margit; Choudhury, Biswa; Andersen, Thomas Levin; Wirnsberger, Gerald; Holmskov, Uffe; Perrimon, Norbert; Zagrovic, Bojan; Monje, Francisco J.; Moeller, Jesper Bonnet; Penninger, Josef M.; Nagy, Vanja 分享 收藏
Prevalence and risk factors for depression among training physicians in China and the United States Chen, Lihong; Zhao, Zhuo; Wang, Zhen; Zhou, Ying; Zhou, Xin; Pan, Hui; Shen, Fengtao; Zeng, Suhua; Shao, Xinhua; Frank, Elena; Sen, Srijan; Li, Weidong; Burmeister, Margit 分享 收藏
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Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes 人类COQ4缺乏症: 描述临床，代谢和神经影像学表型 Laugwitz, Lucia; Seibt, Annette; Herebian, Diran; Peralta, Susana; Kienzle, Imke; Buchert, Rebecca; Falb, Ruth; Gauck, Darja; Muller, Amelie; Grimmel, Mona; Beck-Woedel, Stefanie; Kern, Jan; Daliri, Karim; Katibeh, Pegah; Danhauser, Katharina; Leiz, Steffen; Alesi, Viola; Baertling, Fabian; Vasco, Gessica; Steinfeld, Robert; Wagner, Matias; Caglayan, Ahmet Okay; Gumus, Hakan; Burmeister, Margit; Mayatepek, Ertan; Martinelli, Diego; Tamhankar, Parag Mohan; Tamhankar, Vasundhara; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Bonnen, Penelope E.; Froukh, Tawfiq; Groeschel, Samuel; Krageloh-Mann, Ingeborg; Haack, Tobias B.; Distelmaier, Felix 分享 收藏
Maternal Overweight and Obesity during Pregnancy Are Associated with Neonatal, but Not Maternal, Hepcidin Concentrations Jones, Andrew D.; Shi, Zhen; Lambrecht, Nathalie J.; Jiang, Yaping; Wang, Jingmin; Burmeister, Margit; Li, Ming; Lozoff, Betsy 分享 收藏
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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder (Jan, 10.1038/s41380-020-01006-9, 2021) Jia, Xiaoming; Goes, Fernando S.; Locke, Adam E.; Palmer, Duncan; Wang, Weiqing; Cohen-Woods, Sarah; Genovese, Giulio; Jackson, Anne U.; Jiang, Chen; Kvale, Mark; Mullins, Niamh; Nguyen, Hoang; Pirooznia, Mehdi; Rivera, Margarita; Ruderfer, Douglas M.; Shen, Ling; Thai, Khanh; Zawistowski, Matthew; Zhuang, Yongwen; Abecasis, Goncalo; Akil, Huda; Bergen, Sarah; Burmeister, Margit; Chapman, Sinead; DelaBastide, Melissa; Jureus, Anders; Kang, Hyun Min; Kwok, Pui-Yan; Li, Jun Z.; Levy, Shawn E.; Monson, Eric T.; Moran, Jennifer; Sobell, Janet; Watson, Stanley; Willour, Virginia; Zollner, Sebastian; Adolfsson, Rolf; Blackwood, Douglas; Boehnke, Michael; Breen, Gerome; Corvin, Aiden; Craddock, Nick; DiFlorio, Arianna; Hultman, Christina M.; Landen, Mikael; Lewis, Cathryn; McCarroll, Steven A.; Richard McCombie, W.; McGuffin, Peter; McIntosh, Andrew; McQuillin, Andrew; Morris, Derek; Myers, Richard M.; O'Donovan, Michael; Ophoff, Roel; Boks, Marco; Kahn, Rene; Ouwehand, Willem; Owen, Michael; Pato, Carlos; Pato, Michele; Posthuma, Danielle; Potash, James B.; Reif, Andreas; Sklar, Pamela; Smoller, Jordan; Sullivan, Patrick F.; Vincent, John; Walters, James; Neale, Benjamin; Purcell, Shaun; Risch, Neil; Schaefer, Catherine; Stahl, Eli A.; Zandi, Peter P.; Scott, Laura J. 分享 收藏
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