Sökresultat - "Eric D Green"

Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels.

William W Motley, Kevin L Seburn, Mir Hussain Nawaz, Kathy E Miers, Jun Cheng, Anthony Antonellis, Eric D Green, Kevin Talbot, Xiang-Lei Yang, Kenneth H Fischbeck, Robert W Burgess

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A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo.

Anthony Antonellis, Megan Y Dennis, Grzegorz Burzynski, Jimmy Huynh, Valerie Maduro, Chani J Hodonsky, Mehrdad Khajavi, Kinga Szigeti, Sandeep Mukkamala, Seneca L Bessling, William J Pavan, Andrew S McCallion, James R Lupski, Eric D Green, NISC Comparative Sequencing Program

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Balancing selection maintains a form of ERAP2 that undergoes nonsense-mediated decay and affects antigen presentation.

Aida M Andrés, Megan Y Dennis, Warren W Kretzschmar, Jennifer L Cannons, Shih-Queen Lee-Lin, Belen Hurle, NISC Comparative Sequencing Program, Pamela L Schwartzberg, Scott H Williamson, Carlos D Bustamante, Rasmus Nielsen, Andrew G Clark, Eric D Green

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A common variant associated with dyslexia reduces expression of the KIAA0319 gene.

Megan Y Dennis, Silvia Paracchini, Thomas S Scerri, Ludmila Prokunina-Olsson, Julian C Knight, Richard Wade-Martins, Penny Coggill, Stephan Beck, Eric D Green, Anthony P Monaco

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Identification of neural crest and glial enhancers at the mouse Sox10 locus through transgenesis in zebrafish.

Anthony Antonellis, Jimmy L Huynh, Shih-Queen Lee-Lin, Ryan M Vinton, Gabriel Renaud, Stacie K Loftus, Gene Elliot, Tyra G Wolfsberg, Eric D Green, Andrew S McCallion, William J Pavan

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Opportunities for basic, clinical, and bioethics research at the intersection of machine learning and genomics

Shurjo K. Sen, Eric D. Green, Carolyn M. Hutter, Mark Craven, Trey Ideker, Valentina Di Francesco

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Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.

Kumaraswamy Sivakumar, Theodoros Kyriakides, Imke Puls, Garth A. Nicholson, Benoît Funalot, Anthony Antonellis, Nyamkhishig Sambuughin, Kyproula Christodoulou, John L. Beggs, Eleni Zamba-Papanicolaou, Victor Ionasescu, Marinos C. Dalakas, Eric D. Green, Kenneth H. Fischbeck, Lev G. Goldfarb

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Construction of a High-Resolution Physical Map of the ∼ 1-Mb Region of Human Chromosome 7q31.1–q31.2 Harboring a Putative Tumor Suppressor Gene

Jean C. Zenklusen, Lauren A. Weintraub, Eric D. Green

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