未登录 Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders 神经发育障碍中Rett综合征样 (rtt-l) 表型趋同的遗传和蛋白质网络基础 Frankel, Eric; Podder, Avijit; Sharifi, Megan; Pillai, Roshan; Belnap, Newell; Ramsey, Keri; Dodson, Julius; Venugopal, Pooja; Brzezinski, Molly; Llaci, Lorida; Gerald, Brittany; Mills, Gabrielle; Sanchez-Castillo, Meredith; Balak, Chris D.; Szelinger, Szabolcs; Jepsen, Wayne M.; Siniard, Ashley L.; Richholt, Ryan; Naymik, Marcus; Schrauwen, Isabelle; Craig, David W.; Piras, Ignazio S.; Huentelman, Matthew J.; Schork, Nicholas J.; Narayanan, Vinodh; Rangasamy, Sampathkumar 分享 收藏
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Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1 Szelinger, Szabolcs; Krate, Jonida; Ramsey, Keri; Strom, Samuel P.; Shieh, Perry B.; Lee, Hane; Belnap, Newell; Balak, Chris; Siniard, Ashley L.; Russell, Megan; Richholt, Ryan; De Both, Matt; Claasen, Ana M.; Schrauwen, Isabelle; Nelson, Stanley F.; Huentelman, Matthew J.; Craig, David W.; Yang, Samuel P.; Moore, Steven A.; Sivakumar, Kumaraswamy; Narayanan, Vinodh; Rangasamy, Sampathkumar 分享 收藏
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Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD) Llaci, Lorida; Ramsey, Keri; Belnap, Newell; Claasen, Ana M.; Balak, Chris D.; Szelinger, Szabolcs; Jepsen, Wayne M.; Siniard, Ashley L.; Richholt, Ryan; Izat, Tyler; Naymik, Marcus; De Both, Matt; Piras, Ignazio S.; Craig, David W.; Huentelman, Matthew J.; Narayanan, Vinodh; Schrauwen, Isabelle; Rangasamy, Sampathkumar 分享 收藏
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation Balak, Chris; Benard, Marianne; Schaefer, Elise; Iqbal, Sumaiya; Ramsey, Keri; Ernoult-Lange, Michele; Mattioli, Francesca; Llaci, Lorida; Geoffroy, Veronique; Courel, Maite; Naymik, Marcus; Bachman, Kristine K.; Pfundt, Rolph; Rump, Patrick; ter Beest, Johanna; Wentzensen, Ingrid M.; Monaghan, Kristin G.; McWalter, Kirsty; Richholt, Ryan; Le Bechec, Antony; Jepsen, Wayne; De Both, Matt; Belnap, Newell; Boland, Anne; Piras, Ignazio S.; Deleuze, Jean-Francois; Szelinger, Szabolcs; Dollfus, Helene; Chelly, Jamel; Muller, Jean; Campbell, Arthur; Lal, Dennis; Rangasamy, Sampathkumar; Mandel, Jean-Louis; Narayanan, Vinodh; Huentelman, Matt; Weil, Dominique; Piton, Amelie 分享 收藏
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish Siekierska, Aleksandra; Stamberger, Hannah; Deconinck, Tine; Oprescu, Stephanie N.; Partoens, Michele; Zhang, Yifan; Sourbron, Jo; Adriaenssens, Elias; Mullen, Patrick; Wiencek, Patrick; Hardies, Katia; Lee, Jeong-Soo; Giong, Hoi-Khoanh; Distelmaier, Felix; Elpeleg, Orly; Helbig, Katherine L.; Hersh, Joseph; Isikay, Sedat; Jordan, Elizabeth; Karaca, Ender; Kecskes, Angela; Lupski, James R.; Kovacs-Nagy, Reka; May, Patrick; Narayanan, Vinodh; Pendziwiat, Manuela; Ramsey, Keri; Rangasamy, Sampathkumar; Shinde, Deepali N.; Spiegel, Ronen; Timmerman, Vincent; von Spiczak, Sarah; Helbig, Ingo; Balak, Chris; Belnap, Newell; Claasen, Ana; Courtright, Amanda; de Both, Matt; Huentelman, Matthew J.; Naymik, Marcus; Richholt, Ryan; Siniard, Ashley L.; Szelinger, Szabolcs; Craig, David W.; Schrauwen, Isabelle; Afawi, Zaid; Balling, Rudi; Baulac, Stephanie; Barisic, Nina; Caglayan, Hande S.; Craiu, Dana; Guerrero-Lopez, Rosa; Guerrini, Renzo; Hjalgrim, Helle; Jahn, Johanna; Klein, Karl Martin; Leguern, Eric; Lemke, Johannes R.; Lerche, Holger; Marini, Carla; Moller, Rikke S.; Muhle, Hiltrud; Rosenow, Felix; Serratosa, Jose; Suls, Arvid; Stephani, Ulrich; Sterbova, Katalin; Striano, Pasquale; Zara, Federico; Weckhuysen, Sarah; Francklyn, Christopher; Antonellis, Anthony; de Witte, Peter; De Jonghe, Peter 分享 收藏
CM-200819-4097863 Exploring genome-wide DNA methylation patterns in Aicardi syndrome Piras, Ignazio S.; Mills, Gabrielle; Llaci, Lorida; Naymik, Marcus; Ramsey, Keri; Belnap, Newell; Balak, Chris D.; Jepsen, Wayne M.; Szelinger, Szabolcs; Siniard, Ashley L.; Lewis, Candace R.; LaFleur, Madison; Richholt, Ryan F.; De Both, Matt D.; Avela, Kristiina; Rangasamy, Sampathkumar; Craig, David W.; Narayanan, Vinodh; Jarvela, Irma; Huentelman, Matthew J.; Schrauwen, Isabelle 分享 收藏
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A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi Syndrome Schrauwen, Isabelle; Szelinger, Szabolcs; Siniard, Ashley L.; Corneveaux, Jason J.; Kurdoglu, Ahmet; Richholt, Ryan; De Both, Matt; Malenica, Ivana; Swaminathan, Shanker; Rangasamy, Sampathkumar; Kulkarni, Neil; Bernes, Saunder; Buchhalter, Jeffrey; Ramsey, Keri; Craig, David W.; Narayanan, Vinodh; Huentelman, Matthew J. 分享 收藏
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Prevention of Nonimmunologic Loss of Transplanted Islets in Monkeys Koulmanda, M.; Sampathkumar, R. S.; Bhasin, M.; Qipo, A.; Fan, Z.; Singh, G.; Movahedi, B.; Duggan, M.; Chipashvili, V.; Strom, T. B. 分享 收藏
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A common nonsynonymous single nucleotide polymorphism in the SLC30A8 gene determines ZnT8 autoantibody specificity in type 1 diabetes Wenzlau, Janet M.; Liu, Yu; Yu, Liping; Moua, Ong; Fowler, Kimberly T.; Rangasamy, Sampathkumar; Walters, Jay; Eisenbarth, George S.; Davidson, Howard W.; Hutton, John C. 分享 收藏
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