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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 Share Save
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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 Share Save
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. Share Save
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. Share Save
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. Share Save
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. Share Save
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. Share Save
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. Share Save
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. Share Save
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. Share Save
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. Share Save
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 Share Save
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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. Share Save
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. Share Save
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. Share Save
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