Not logged in 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. Share Save
Macrocephaly and developmental delay caused by missense variants in RAB5C Koop, Klaas; Yuan, Weimin; Tessadori, Federico; Rodriguez-Polanco, Wilmer R.; Grubbs, Jeremy; Zhang, Bo; Osmond, Matt; Graham, Gail; Sawyer, Sarah; Conboy, Erin; Vetrini, Francesco; Treat, Kayla; Ploski, Rafal; Pienkowski, Victor Murcia; Klosowska, Anna; Fieg, Elizabeth; Krier, Joel; Mallebranche, Coralie; Alban, Ziegler; Aldinger, Kimberly A.; Ritter, Deborah; Macnamara, Ellen; Sullivan, Bonnie; Herriges, John; Alaimo, Joseph T.; Helbig, Catherine; Ellis, Colin A.; van Eyk, Clare; Gecz, Jozef; Farrugia, Daniel; Osei-Owusu, Ikeoluwa; Ades, Lesley; van den Boogaard, Marie-Jose; Fuchs, Sabine; Bakker, Jeroen; Duran, Karen; Dawson, Zachary D.; Lindsey, Anika; Huang, Huiyan; Baldridge, Dustin; Silverman, Gary A.; Grant, Barth D.; Raizen, David; van Haaften, Gijs; Pak, Stephen C.; Rehmann, Holger; Schedl, Tim; van Hasselt, Peter Share Save
A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C Huang, Huiyan; Pan, Jiehong; Spielberg, David R.; Hanchard, Neil A.; Scott, Daryl A.; Burrage, Lindsay C.; Dai, Hongzheng; Murdock, David; Rosenfeld, Jill A.; Mohammad, Ariz; Huang, Tao; Lindsey, Anika G.; Kim, Hyori; Chen, Jian; Ramu, Avinash; Morrison, Stephanie A.; Dawson, Zachary D.; Hu, Alex Z.; Tycksen, Eric; Silverman, Gary A.; Baldridge, Dustin; Wambach, Jennifer A.; Pak, Stephen C.; Brody, Steven L.; Schedl, Tim Share Save
Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA Boulin, Thomas; Itani, Omar; El Mouridi, Sonia; Leclercq-Blondel, Alice; Gendrel, Marie; Macnamara, Ellen; Soldatos, Ariane; Murphy, Jennifer L.; Gorman, Mark P.; Lindsey, Anika; Shimada, Shino; Turner, Darian; Silverman, Gary A.; Baldridge, Dustin; Malicdan, May C.; Schedl, Tim; Pak, Stephen C. Share Save
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