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De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome De Novo and Inherited Variants in DDX39B Cause a Novel Neurodevelopmental Syndrome Booth, Kevin T. A.; Jangam, Sharayu, V; Chui, Martin M. C.; Treat, Kayla; Graziani, Lorenzo; Soldano, Alessia; Ruan, Yao; Hui, Jeffrey Wan-Hei; White, Kerry; Christensen, Celanie K.; Lynnes, Ty; Yamamoto, Shinya; Kanca, Oguz; Tsang, Mandy H. Y.; Lynch, Sally A.; Mullegama, Sureni, V; Baptista, Julia; Iancu, Daniela; Joss, Shelagh K.; Wong, Sandra Y. Y.; Mak, Christopher C. Y.; Kwong, Anna K. Y.; Bellen, Hugo J.; Conboy, Erin; Sanges, Remo; Leung, Anskar Yu-Hung; Wangler, Michael F.; Chung, Brian H. Y.; Vetrini, Francesco 分享 收藏
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De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms Bereshneh, Ali H.; Andrews, Jonathan C.; Eberl, Daniel F.; Bademci, Guney; Borja, Nicholas A.; Bivona, Stephanie; Chung, Wendy K.; Yamamoto, Shinya; Wangler, Michael F.; McKee, Shane; Tekin, Mustafa; Bellen, Hugo J.; Kanca, Oguz 分享 收藏
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma Ma, Mengqi; Ganapathi, Mythily; Zheng, Yiming; Tan, Kai-Li; Kanca, Oguz; Bove, Kevin E.; Quintanilla, Norma; Sag, Sebnem O.; Temel, Sehime G.; LeDuc, Charles A.; McPartland, Amanda J.; Pereira, Elaine M.; Shen, Yufeng; Hagen, Jacob; Thomas, Christie P.; Galvan, Nhu Thao Nguyen; Pan, Xueyang; Lu, Shenzhao; Rosenfeld, Jill A.; Calame, Daniel G.; Wangler, Michael F.; Lupski, James R.; Pehlivan, Davut; Hertel, Paula M.; Chung, Wendy K.; Bellen, Hugo J. 分享 收藏
An efficient CRISPR-based strategy to insert small and large fragments of DNA using short homology arms Kanca, Oguz; Zirin, Jonathan; Garcia-Marques, Jorge; Knight, Shannon Marie; Donghui Yang-Zhou; Amador, Gabriel; Chung, Hyunglok; Zuo, Zhongyuan; Ma, Liwen; He, Yuchun; Lin, Wen-Wen; Fang, Ying; Ge, Ming; Yamamoto, Shinya; Schulze, Karen L.; Hu, Yanhui; Spradling, Allan C.; Mohr, Stephanie E.; Perrimon, Norbert; Bellen, Hugo J. 分享 收藏
Cdk8/CDK19 promotes mitochondrial fission through Drp1 phosphorylation and can phenotypically suppress pink1 deficiency in Drosophila Liao, Jenny Zhe; Chung, Hyung-lok; Shih, Claire; Wong, Kenneth Kin Lam; Dutta, Debdeep; Nil, Zelha; Burns, Catherine Grace; Kanca, Oguz; Park, Ye-Jin; Zuo, Zhongyuan; Marcogliese, Paul C.; Sew, Katherine; Bellen, Hugo J.; Verheyen, Esther M. 分享 收藏
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features Pan, Xueyang; Tao, Alice M.; Lu, Shenzhao; Ma, Mengqi; Hannan, Shabab B.; Slaugh, Rachel; Williams, Sarah Drewes; O'Grady, Lauren; Kanca, Oguz; Person, Richard; Carter, Melissa T.; Platzer, Konrad; Schnabel, Franziska; Abou Jamra, Rami; Roberts, Amy E.; Newburger, Jane W.; Revah-Politi, Anya; Granadillo, Jorge L.; Stegmann, Alexander P. A.; Sinnema, Margje; Accogli, Andrea; Salpietro, Vincenzo; Capra, Valeria; Ghaloul-Gonzalez, Lina; Brueckner, Martina; Simon, Marleen E. H.; Sweetser, David A.; Glinton, Kevin E.; Kirk, Susan E.; Wangler, Michael F.; Yamamoto, Shinya; Chung, Wendy K.; Bellen, Hugo J. 分享 收藏
Identifying potential dietary treatments for inherited metabolic disorders using Drosophila nutrigenomics Martelli, Felipe; Lin, Jiayi; Mele, Sarah; Imlach, Wendy; Kanca, Oguz; Barlow, Christopher K.; Paril, Jefferson; Schittenhelm, Ralf B.; Christodoulou, John; Bellen, Hugo J.; Piper, Matthew D. W.; Johnson, Travis K. 分享 收藏
Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability Dutta, Debdeep; Kanca, Oguz; Shridharan, Rishi V.; Marcogliese, Paul C.; Steger, Benjamin; Morimoto, Marie; Frost, F. Graeme; Macnamara, Ellen; Wangler, Michael F.; Yamamoto, Shinya; Jenny, Andreas; Adams, David; Malicdan, May C.; Bellen, Hugo J. 分享 收藏
Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays Pan, Xueyang; Alvarez, Albert N.; Ma, Mengqi; Lu, Shenzhao; Crawford, Michael W.; Briere, Lauren C.; Kanca, Oguz; Yamamoto, Shinya; Sweetser, David A.; Wilson, Jenny L.; Napier, Ruth J.; Pruneda, Jonathan N.; Bellen, Hugo J. 分享 收藏
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies Nil, Zelha; Deshwar, Ashish R.; Huang, Yan; Barish, Scott; Zhang, Xi; Choufani, Sanaa; Stabej, Polona Le Quesne; Hayes, Ian; Yap, Patrick; Haldeman-Englert, Chad; Wilson, Carolyn; Prescott, Trine; Tveten, Kristian; Vollo, Arve; Haynes, Devon; Wheeler, Patricia G.; Zon, Jessica; Cytrynbaum, Cheryl; Jobling, Rebekah; Blyth, Moira; Banka, Siddharth; Afenjar, Alexandra; Mignot, Cyril; Robin-Renaldo, Florence; Keren, Boris; Kanca, Oguz; Mao, Xiao; Wegner, Daniel J.; Sisco, Kathleen; Shinawi, Marwan; Wangler, Michael F.; Weksberg, Rosanna; Yamamoto, Shinya; Costain, Gregory; Bellen, Hugo J. 分享 收藏
A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levels Dutta, Debdeep; Kanca, Oguz; Byeon, Seul Kee; Marcogliese, Paul C.; Zuo, Zhongyuan; Shridharan, Rishi V.; Park, Jun Hyoung; Undiagnosed Dis Network, Guang; Lin, Guang; Ge, Ming; Heimer, Gali; Kohler, Jennefer N.; Wheeler, Matthew T.; Kaipparettu, Benny A.; Pandey, Akhilesh; Bellen, Hugo J. 分享 收藏
A comprehensive Drosophila resource to identify key functional interactions between SARS-CoV-2 factors and host proteins Guichard, Annabel; Lu, Shenzhao; Kanca, Oguz; Bier, Ethan; Bressan, Daniel; Huang, Yan; Ma, Mengqi; Juste, Sara Sanz; Andrews, Jonathan C.; Jay, Kristy L.; Sneider, Marketta; Schwartz, Ruth; Huang, Mei-Chu; Bei, Danqing; Pan, Hongling; Ma, Liwen; Lin, Wen-Wen; Auradkar, Ankush; Bhagwat, Pranjali; Park, Soo; Wan, Kenneth H.; Ohsako, Takashi; Takano-Shimizu, Toshiyuki; Celniker, Susan E.; Wangler, Michael F.; Yamamoto, Shinya; Bellen, Hugo J.; Bier, Ethan 分享 收藏
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De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features Andrews, Jonathan C.; Mok, Jung-Wan; Kanca, Oguz; Jangam, Sharayu; Tifft, Cynthia; Macnamara, Ellen F.; Russell, Bianca E.; Wang, Lee-kai; Nelson, Stanley F.; Bellen, Hugo J.; Yamamoto, Shinya; Malicdan, May Christine V.; Wangler, Michael F. 分享 收藏
Bi-allelic variants in INTS11 are associated with a complex neurological disorder Tepe, Burak; Macke, Erica L.; Niceta, Marcello; Hubshman, Monika Weisz; Kanca, Oguz; Schultz-Rogers, Laura; Zarate, Yuri A.; Schaefer, G. Bradley; De Luque, Jorge Luis Granadillo; Wegner, Daniel J.; Cogne, Benjamin; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Wagner, Eric J.; Pais, Lynn S.; Neil, Jennifer E.; Mochida, Ganeshwaran H.; Walsh, Christopher A.; Magal, Nurit; Drasinover, Valerie; Shohat, Mordechai; Schwab, Tanya; Schmitz, Chris; Clark, Karl; Fine, Anthony; Lanpher, Brendan; Gavrilova, Ralitza; Blanc, Pierre; Burglen, Lydie; Afenjar, Alexandra; Steel, Dora; Kurian, Manju A.; Prabhakar, Prab; Gosswein, Sophie; Di Donato, Nataliya; Bertini, Enrico S.; Wangler, Michael F.; Yamamoto, Shinya; Tartaglia, Marco; Klee, Eric W.; Bellen, Hugo J. 分享 收藏
Very-long-chain fatty acids induce glial-derived sphingosine-1-phosphate synthesis, secretion, and neuroinflammation Chung, Hyung-lok; Ye, Qi; Park, Ye-Jin; Zuo, Zhongyuan; Mok, Jung-Wan; Kanca, Oguz; Tattikota, Sudhir Gopal; Lu, Shenzhao; Perrimon, Norbert; Lee, Hyun Kyoung; Bellen, Hugo J. 分享 收藏
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