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Patient-derived models of UBA5-associated encephalopathy identify defects in neurodevelopment and highlight potential therapeutic avenues Chen, Helen; Laflamme, Christy W.; Wang, Yong-Dong; Blan, Aidan W.; Koehler, Nikki; Moraes, Renata Mendonca; Olszewski, Athena R.; Fuerte, Edith P. Almanza; Bonkowski, Emily S.; Bajpai, Richa; Lavado, Alfonso; Pruett-Miller, Shondra M.; Mefford, Heather C. Share Save
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement Laflamme, Christy W.; Rastin, Cassandra; Sengupta, Soham; Pennington, Helen E.; Russ-Hall, Sophie J.; Schneider, Amy L.; Bonkowski, Emily S.; Almanza Fuerte, Edith P.; Allan, Talia J.; Zalusky, Miranda Perez-Galey; Goffena, Joy; Gibson, Sophia B.; Nyaga, Denis M.; Lieffering, Nico; Hebbar, Malavika; Walker, Emily V.; Darnell, Daniel; Olsen, Scott R.; Kolekar, Pandurang; Djekidel, Mohamed Nadhir; Rosikiewicz, Wojciech; Mcconkey, Haley; Kerkhof, Jennifer; Levy, Michael A.; Relator, Raissa; Lev, Dorit; Lerman-Sagie, Tally; Park, Kristen L.; Alders, Marielle; Cappuccio, Gerarda; Chatron, Nicolas; Demain, Leigh; Genevieve, David; Lesca, Gaetan; Roscioli, Tony; Sanlaville, Damien; Tedder, Matthew L.; Gupta, Sachin; Jones, Elizabeth A.; Weisz-Hubshman, Monika; Ketkar, Shamika; Dai, Hongzheng; Worley, Kim C.; Rosenfeld, Jill A.; Chao, Hsiao-Tuan; Neale, Geoffrey; Carvill, Gemma L.; Wang, Zhaoming; Berkovic, Samuel F.; Sadleir, Lynette G.; Miller, Danny E.; Scheffer, Ingrid E.; Sadikovic, Bekim; Mefford, Heather C. Share Save
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Family-level utility of pediatric genomic sequencing: A qualitative analysis and attribute framework Smith, Hadley; Bonkowski, Emily; Deloge, Raymond Belanger; Gutierrez, Amanda; Recinos, Alva; Lavelle, Tara; Wittenberg, Eve; Veenstra, David; McGuire, Amy; Pereira, Stacey Share Save
Targeted long-read sequencing identifies missing disease-causing variation Miller, Danny E.; Sulovari, Arvis; Wang, Tianyun; Loucks, Hailey; Hoekzema, Kendra; Munson, Katherine M.; Lewis, Alexandra P.; Fuerte, Edith P. Almanza; Paschal, Catherine R.; Walsh, Tom; Thies, Jenny; Bennett, James T.; Glass, Ian; Dipple, Katrina M.; Patterson, Karynne; Bonkowski, Emily S.; Nelson, Zoe; Squire, Audrey; Sikes, Megan; Beckman, Erika; Bennett, Robin L.; Earl, Dawn; Lee, Winston; Allikmets, Rando; Perlman, Seth J.; Chow, Penny; Hing, Anne, V; Wenger, Tara L.; Adam, Margaret P.; Sun, Angela; Lam, Christina; Chang, Irene; Zou, Xue; Austin, Stephanie L.; Huggins, Erin; Safi, Alexias; Iyengar, Apoorva K.; Reddy, Timothy E.; Majoros, William H.; Allen, Andrew S.; Crawford, Gregory E.; Kishnani, Priya S.; King, Mary-Claire; Cherry, Tim; Chong, Jessica X.; Bamshad, Michael J.; Nickerson, Deborah A.; Mefford, Heather C.; Doherty, Dan; Eichler, Evan E. Share Save
Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L Chen, Dong-Hui; Below, Jennifer E.; Shimamura, Akiko; Keel, Sioban B.; Matsushita, Mark; Wolff, John; Sul, Youngmee; Bonkowski, Emily; Castella, Maria; Taniguchi, Toshiyasu; Nickerson, Deborah; Papayannopoulou, Thalia; Bird, Thomas D.; Raskind, Wendy H. Share Save
ADCY5-related dyskinesia Broader spectrum and genotype-phenotype correlations Chen, Dong-Hui; Meneret, Aurelie; Friedman, Jennifer R.; Korvatska, Olena; Gad, Alona; Bonkowski, Emily S.; Stessman, Holly A.; Doummar, Diane; Mignot, Cyril; Anheim, Mathieu; Bernes, Saunder; Davis, Marie Y.; Damon-Perriere, Nathalie; Degos, Bertrand; Grabli, David; Gras, Domitille; Hisama, Fuki M.; Mackenzie, Katherine M.; Swanson, Phillip D.; Tranchant, Christine; Vidailhet, Marie; Winesett, Steven; Trouillard, Oriane; Amendola, Laura M.; Dorschner, Michael O.; Weiss, Michael; Eichler, Evan E.; Torkamani, Ali; Roze, Emmanuel; Bird, Thomas D.; Raskind, Wendy H. Share Save
Gain-of-Function ADCY5 Mutations in Familial Dyskinesia with Facial Myokymia Chen, Ying-Zhang; Friedman, Jennifer R.; Chen, Dong-Hui; Chan, Guy C. -K.; Bloss, Cinnamon S.; Hisama, Fuki M.; Topol, Sarah E.; Carson, Andrew R.; Pham, Phillip H.; Bonkowski, Emily S.; Scott, Erick R.; Lee, Janel K.; Zhang, Guangfa; Oliveira, Glenn; Xu, Jian; Scott-Van Zeeland, Ashley A.; Chen, Qi; Levy, Samuel; Topol, Eric J.; Storm, Daniel; Swanson, Phillip D.; Bird, Thomas D.; Schork, Nicholas J.; Raskind, Wendy H.; Torkamani, Ali Share Save
Two Novel Mutations in ABHD12: Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects Chen, Dong-Hui; Naydenov, Alipi; Blankman, Jacqueline L.; Mefford, Heather C.; Davis, Marie; Sul, Youngmee; Barloon, A. Samuel; Bonkowski, Emily; Wolff, John; Matsushita, Mark; Smith, Corrine; Cravatt, Benjamin F.; Mackie, Ken; Raskind, Wendy H.; Stella, Nephi; Bird, Thomas D. Share Save
Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS) Korvatska, Olena; Strand, Nicholas S.; Berndt, Jason D.; Strovas, Tim; Chen, Dong-Hui; Leverenz, James B.; Kiianitsa, Konstantin; Mata, Ignacio F.; Karakoc, Emre; Greenup, J. Lynne; Bonkowski, Emily; Chuang, Joseph; Moon, Randall T.; Eichler, Evan E.; Nickerson, Deborah A.; Zabetian, Cyrus P.; Kraemer, Brian C.; Bird, Thomas D.; Raskind, Wendy H. Share Save
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