Issue 1/2016
Content (11 Articles)
Disruptions in a cluster of computationally identified enhancers near FOXC1 and GMDS may influence brain development
Genevieve D. E. Haliburton, Gabriel L. McKinsey, Katherine S. Pollard
Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations
Catherine A. Brownstein, Alan H. Beggs, Lance Rodan, Jiahai Shi, Meghan C. Towne, Renee Pelletier, Siqi Cao, Paul A. Rosenberg, David K. Urion, Jonathan Picker, Wen-Hann Tan, Pankaj B. Agrawal
Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld–Rieger syndrome
Shazia Micheal, Sorath Noorani Siddiqui, Saemah Nuzhat Zafar, Hanka Venselaar, Raheel Qamar, Muhammad Imran Khan, Anneke I. den Hollander
Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization
Simon Edvardson, Haibo Wang, Talya Dor, Osamah Atawneh, Barak Yaacov, Jutta Gartner, Yuval Cinnamon, Songhai Chen, Orly Elpeleg
COMT Val 158 Met polymorphism is associated with nonverbal cognition following mild traumatic brain injury
Ethan A. Winkler, John K. Yue, Thomas W. McAllister, Nancy R. Temkin, Sam S. Oh, Esteban G. Burchard, Donglei Hu, Adam R. Ferguson, Hester F. Lingsma, John F. Burke, Marco D. Sorani, Jonathan Rosand, Esther L. Yuh, Jason Barber, Phiroz E. Tarapore, Raquel C. Gardner, Sourabh Sharma, Gabriela G. Satris, Celeste Eng, Ava M. Puccio, Kevin K. W. Wang, Pratik Mukherjee, Alex B. Valadka, David O. Okonkwo, Ramon Diaz-Arrastia, Geoffrey T. Manley
De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism
Linshan Shang, Lindsay B. Henderson, Megan T. Cho, Donald S. Petrey, Chin-To Fong, Katrina M. Haude, Natasha Shur, Julie Lundberg, Natalie Hauser, Jason Carmichael, Jeffrey Innis, Jane Schuette, Yvonne W. Wu, Shailesh Asaikar, Margaret Pearson, Leandra Folk, Kyle Retterer, Kristin G. Monaghan, Wendy K. Chung
First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking
María Elena Rodríguez-García, Elena Martín-Hernández, Ana Martínez de Aragón, María Teresa García-Silva, Pilar Quijada-Fraile, Joaquín Arenas, Miguel A. Martín, Francisco Martínez-Azorín
Transgenic rescue of phenotypic deficits in a mouse model of alternating hemiplegia of childhood
Greer S. Kirshenbaum, James Dachtler, John C. Roder, Steven J. Clapcote
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations
Michelangelo Cao, Marta Donà, Lucia Valentino, Claudio Semplicini, Alessandra Maresca, Matteo Cassina, Alessandra Torraco, Eva Galletta, Valeria Manfioli, Gianni Sorarù, Valerio Carelli, Roberto Stramare, Enrico Bertini, Rosalba Carozzo, Leonardo Salviati, Elena Pegoraro
Refining the phenotype associated with CASC5 mutation
Abdelkrim Saadi, Florine Verny, Karine Siquier-Pernet, Christine Bole-Feysot, Patrick Nitschke, Arnold Munnich, Myriam Abada-Dendib, Malika Chaouch, Marc Abramowicz, Laurence Colleaux
Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly
Mara Cavallin, Laurence Hubert, Vincent Cantagrel, Arnold Munnich, Nathalie Boddaert, Catherine Vincent-Delorme, Jean Christophe Cuvellier, Cecile Masson, Claude Besmond, Nadia Bahi-Buisson