未登录 Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder TMEM63B基因双等位基因失活变异导致综合征性表面活性物质功能障碍症 Chan, Sock Hoai; Iness, Audra N.; Rosenfeld, Jill A.; Bekheirnia, Mir Reza; Burrage, Lindsay C.; Chau, Matthew Hoi Kin; Htoo, Chaerish Eint Myet Chae; Kao, Eric C.; Ketkar, Shamika; Lim, Wan Wan; Luo, Xi; Mazlan, Rifhan; Mizerik, Elizabeth; Mun, Kein Seong; Patel, Kalyani R.; Potocki, Lorraine; Rapp, Christina K.; Roca, Xavier; Saianda, Ana; Iglesias-Serrano, Ignacio; Siew, Everlyn C.; Sim, Donald Yuhui; Spielberg, David R.; Tae, Sok-Kun; Teo, Jing Xian; Warfsmann, Julian; Xia, Fan; Jamuar, Saumya S.; Tan, Ee Shien; Griese, Matthias; Lim, Weng Khong; Thong, Meow-Keong; Machol, Keren 分享 收藏
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Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia DENND2B基因的变异与神经发育障碍、精神病和紧张症的易感性相关。Brain Murthy, Harsha; Hoang, Ny; Stark, Jamie C.; Cui, Sunny; Pannia, Emanuela; Tsoi, Chung Ting; Harris, Simon; Ceolin, C'airah; Verhaeghe, Lauren; Scholten, Sydney; Baribeau, Danielle; Summers, Jane; Costain, Gregory; Selvanayagam, Thanuja; Howe, Jennifer L.; Lewis, M. E. Suzanne; Brunet, Theresa; Rieger, Susanne; Rosenfeld, Jill A.; Craigen, William J.; Burrage, Lindsay C.; Christie, Michelle R.; Baldwin, Deborah; Wentzensen, Ingrid M.; Keren, Boris; Cogne, Benjamin; Isidor, Bertrand; Afenjar, Alexandra; Elshafie, Reem M.; Bastaki, Laila; Alkanderi, Sumaya; Myers, Kenneth A.; Demarest, Scott; Angione, Katie; Abbott, Megan; Campeau, Philippe M.; Dowling, James J.; Mendoza-Londono, Roberto; Scherer, Stephen W.; Deshwar, Ashish R.; Vorstman, Jacob 分享 收藏
Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework 基于ClinGen注释框架的证据支持性骨骼疾病相关基因分类 Webb, Ryan F.; McCurry, Hannah; Girod, Amanda; Hughes, Madeline; Wilcox, Emma; Patel, Mayher; Broeren, Eleanor C.; Tshering, Kezang C.; Distefano, Marina; Botto, Lorenzo D.; Burrage, Lindsay C.; Cormier-Daire, Valerie; Dong, Juan; Ehmke, Nadja; Krakow, Deborah; Moosa, Shahida; Mortier, Geert; Nagamani, Sandesh; Pena, Loren; Sanchez-Lara, Pedro A.; Superti-Furga, Andrea; Unger, Sheila; Velasco, Danita; Warman, Matthew L.; Brown, Kerry; D'Cunha Burkardt, Deepika; Ferreira, Carlos R. 分享 收藏
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De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies RYBP基因中的新发变异与严重的神经发育障碍和先天性畸形相关。 Weisz-Hubshman, Monika; Burrage, Lindsay C.; V. Jangam, Sharayu; Rosenfeld, Jill A.; von Hardenberg, Sandra; Bergmann, Anke; Richter, Manuela Friederike; Rydzanicz, Malgorzata; Ploski, Rafal; Stembalska, Agnieszka; Chung, Wendy K.; Hernan, Rebecca R.; Lim, Foong Y.; Brunet, Theresa; Syrbe, Steffen; Keren, Boris; Heide, Solveig; Murdock, David R.; Dai, Hongzheng; Xia, Fan; Ketkar, Shamika; Dawson, Brian; Narayanan, Vinodh; Graves, Hillary K.; Wangler, Michael F.; Bacino, Carlos; Lee, Brendan 分享 收藏
Exploring the complexity of systemic sclerosis etiology by trio whole genome sequencing 通过trio全基因组测序探索系统性硬化症病因的复杂性 Dai, Hongzheng; Ketkar, Shamika; Tan, Taotao; Atkinson, Elizabeth G.; Burrage, Lindsay; Worley, Kim C.; Christopher, Brian; Lyons, Marka A.; Assassi, Shervin; Mayes, Maureen D.; Lee, Brendan 分享 收藏
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing Li, Shenglan; Zhao, Sen; Sinson, Jefferson C.; Bajic, Aleksandar; Rosenfeld, Jill A.; Neeley, Matthew B.; Pena, Mezthly; Worley, Kim C.; Burrage, Lindsay C.; Weisz-Hubshman, Monika; Ketkar, Shamika; Craigen, William J.; Clark, Gary D.; Lalani, Seema; Bacino, Carlos A.; Machol, Keren; Chao, Hsiao-Tuan; Potocki, Lorraine; Emrick, Lisa; Sheppard, Jennifer; Nguyen, My T. T.; Khoramnia, Anahita; Hernandez, Paula Patricia; Nagamani, Sandesh CS.; Liu, Zhandong; Eng, Christine M.; Lee, Brendan; Liu, Pengfei 分享 收藏
Two versus one newborn screens: Policy considerations for state newborn screening laboratories based on the Texas experience Chang, Hsiang-Chun; Hunt, Patricia; Gofin, Yoel; Makay, Laura; Lee, Rachel; Tanksley, Susan; McKenzie, Leslie; Soler-Alfonso, Claudia; Burrage, Lindsay; Freedenberg, Debra; Harpavat, Sanjiv 分享 收藏
High prevalence of hepatic fibrosis in liver tissue from individuals with argininosuccinate lyase deficiency Burrage, Lindsay; Ali, Saima; Nisar, Aisha; Quan, Thu; Aceves, Nathalie; Shneider, Benjamin; Leung, Daniel; Nagamani, Sandesh; Enns, Gregory; Jain, Shilpa; Goss, John; Hazard, Florette; Schady, Deborah 分享 收藏
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes Rinaldi, Berardo; Bayat, Allan; Zachariassen, Linda G.; Sun, Jia-Hui; Ge, Yu-Han; Zhao, Dan; Bonde, Kristine; Madsen, Laura H.; Awad, Ilham Abdimunim Ali; Bagiran, Duygu; Sbeih, Amal; Shah, Syeda Maidah; El-Sayed, Shaymaa; Lyngby, Signe M.; Pedersen, Miriam G.; Stenum-Berg, Charlotte; Walker, Louise Claudia; Krey, Ilona; Delahaye-Duriez, Andree; Emrick, Lisa T.; Sully, Krystal; Murali, Chaya N.; Burrage, Lindsay C.; Gonzalez, Julie Ana Plaud; Parnes, Mered; Friedman, Jennifer; Isidor, Bertrand; Lefranc, Jeremie; Redon, Sylvia; Heron, Delphine; Mignot, Cyril; Keren, Boris; Fradin, Melanie; Dubourg, Christele; Mercier, Sandra; Besnard, Thomas; Cogne, Benjamin; Deb, Wallid; Rivier, Clotilde; Milani, Donatella; Bedeschi, Maria Francesca; Di Napoli, Claudia; Grilli, Federico; Marchisio, Paola; Koudijs, Suzanna; Veenma, Danielle; Argilli, Emanuela; Lynch, Sally Ann; Au, Ping Yee Billie; Valenzuela, Fernando Eduardo Ayala; Brown, Carolyn; Masser-Frye, Diane; Jones, Marilyn; Romero, Leslie Patron; Li, Wenhui Laura; Thorpe, Erin; Hecher, Laura; Johannsen, Jessika; Denecke, Jonas; McNiven, Vanda; Szuto, Anna; Wakeling, Emma; Cruz, Vincent; Sency, Valerie; Wang, Heng; Piard, Juliette; Kortuem, Fanny; Herget, Theresia; Bierhals, Tatjana; Condell, Angelo; Ben-Zeev, Bruria; Kaur, Simranpreet; Christodoulou, John; Piton, Amelie; Zweier, Christiane; Kraus, Cornelia; Micalizzi, Alessia; Trivisano, Marina; Specchio, Nicola; Lesca, Gaetan; Moller, Rikke S.; Tumer, Zeynep; Musgaard, Maria; Gerard, Benedicte; Lemke, Johannes R.; Shi, Yun Stone; Kristensen, Anders S. 分享 收藏
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling Marom, Ronit; Zhang, Bo; Washington, Megan E.; Song, I-Wen; Burrage, Lindsay C.; Rossi, Vittoria C.; Berrier, Ava S.; Lindsey, Anika; Lesinski, Jacob; Nonet, Michael L.; Chen, Jian; Baldridge, Dustin; Silverman, Gary A.; Sutton, V. Reid; Rosenfeld, Jill A.; Tran, Alyssa A.; Hicks, M. John; Murdock, David R.; Dai, Hongzheng; Weis, Maryann; Jhangiani, Shalini N.; Muzny, Donna M.; Gibbs, Richard A.; Caswell, Richard; Pottinger, Carrie; Cilliers, Deirdre; Stals, Karen; Eyre, David; Krakow, Deborah; Schedl, Tim; Pak, Stephen C.; Lee, Brendan H. 分享 收藏
Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders Murali, Chaya N.; Barber, John R.; McCarter, Robert; Zhang, Anqing; Gallant, Natalie; Simpson, Kara; Dorrani, Naghmeh; Wilkening, Greta N.; Hays, Ron D.; Urea Cycle Disorders Consortium, Lindsay C.; Burragea, Lindsay C.; Nagamani, Sandesh C. S. 分享 收藏
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Argininosuccinate lyase deficiency causes blood-brain barrier disruption via nitric oxide-mediated dysregulation of claudin expression Kho, Jordan; Polak, Urszula; Jiang, Ming-Ming; Odom, John D.; Hunter, Jill V.; Ali, Saima M.; Burrage, Lindsay C.; Nagamani, Sandesh C. S.; Pautler, Robia G.; Thompson, Hannah P.; Urayama, Akihiko; Jin, Zixue; Lee, Brendan 分享 收藏
Delayed skeletal development and IGF-1 deficiency in a mouse model of lysinuric protein intolerance Stroup, Bridget M.; Li, Xiaohui; Ho, Sara; Zhouyao, Haonan; Chen, Yuqing; Ani, Safa; Dawson, Brian; Jin, Zixue; Marom, Ronit; Jiang, Ming-Ming; Lorenzo, Isabel; Rosen, Daniel; Lanza, Denise; Aceves, Nathalie; Koh, Sara; Seavitt, John R.; Heaney, Jason D.; Lee, Brendan; Burrage, Lindsay C. 分享 收藏
ACMG STATEMENT Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG) Pena, Loren D. M.; Burrage, Lindsay C.; Enns, Gregory M.; Esplin, Edward D.; Harding, Cary; Mendell, Jerry R.; Niu, Zhiyv (Neal); Scharfe, Curt; Yu, Timothy; Koeberl, Dwight D. 分享 收藏
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