ALG1-CDG: clinical and molecular characterization of 39 unreported patients
- Creator: Ng, Bobby G. , Shiryaev, Sergey A. , Barone, Rita , Berry, Gerard T. , Brumbaugh, Jane E. , Buckingham, Kati J. , Clarkson, Katie , Cole, F. Sessions , O'Connor, Shawn , Cooper, Gregory M. , Van Coster, Rudy , Demmer, Laurie A. , Rymen, Daisy , Diogo, Luisa , Fay, Alexander J. , Ficicioglu, Can , Fiumara, Agata , Gahl, William A. , Ganetzky, Rebecca , Goel, Himanshu , Harshman, Lyndsay A. , He, Miao , Jaeken, Jaak , Eklund, Erik A. , James, Philip M. , Katz, Daniel , Keldermans, Liesbeth , Kibaek, Maria , Kornberg, Andrew J. , Lachlan, Katherine , Lam, Christina , Yaplito-Lee, Joy , Nickerson, Deborah A. , Peters, Heidi L. , Raymond, Kimiyo , Race, Valerie , Régal, Luc , Rush, Jeffrey S. , Rutledge, S. Lane , Shendure, Jay , Souche, Erika , Sparks, Susan E. , Trapane, Pamela , Sanchez-Valle, Amarillis , Vilain, Eric , Kircher, Martin , Vøllo, Arve , Waechter, Charles J. , Wang, Raymond Y. , Wolfe, Lynne A. , Wong, Derek A. , Wood, Tim , Yang, Amy C. , Matthijs, Gert , Freeze, Hudson H. , University of Washington Center for Mendelian Genomics , Abdenur, Jose E. , Alehan, Fusun , Midro, Alina T. , Bamshad, Michael J.
- Resource Type: journal article
- Date: 2016
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
- Creator: Jenkinson, Emma M. , Rodero, Mathieu P. , Bhaskar, Sanjeev S. , O'Sullivan, James , Baerlocher, Gabriela M. , Haubitz, Monika , Aubert, Geraldine , Barañano, Kristin W. , Barnicoat, Angela J. , Battini, Roberta , Berger, Andrea , Blair, Edward M. , Kasher, Paul R. , Brunstrom-Hernandez, Janice E. , Buckard, Johannes A. , Cassiman, David M. , Caumes, Rosaline , Cordelli, Duccio M. , De Waele, Liesbeth M. , Fay, Alexander J. , Ferreira, Patrick , Fletcher, Nicholas A. , Fryer, Alan E. , Uggenti, Carolina , Goel, Himanshu , Hemingway, Cheryl A. , Henneke, Marco , Hughes, Imelda , Jefferson, Rosalind J. , Kumar, Ram , Lagae, Lieven , Landrieu, Pierre G. , Lourenço, Charles M. , Malpas, Timothy J. , Oojageer, Anthony , Mehta, Sarju G. , Metz, Imke , Naidu, Sakkubai , Õunap, Katrin , Panzer, Axel , Prabhakar, Prab , Quaghebeur, Geraldine , Schiffmann, Raphael , Sherr, Elliott H. , Sinnathuray, Kanaga R. , Goosey, Laurence C. , Soh, Calvin , Stewart, Helen S. , Stone, John , Van Esch, Hilde , Van Mol, Christine E. G. , Vanderver, Adeline , Wakeling, Emma L. , Whitney, Andrea , Pavitt, Graham D. , Griffiths-Jones, Sam , Rose, Yoann , Rice, Gillian I. , Revy, Patrick , van der Knaap, Margo S. , Livingston, John H. , O'Keefe, Raymond T. , Crow, Yanick J. , Kershaw, Christopher J. , Urquhart, Jill E. , Williams, Simon G.
- Resource Type: journal article
- Date: 2016