Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.
Neurology. Genetics
Haskell, Gloria T GT; Adams, Michael C MC; Fan, Zheng Z; Amin, Krunal K; Guzman Badillo, Roberto J RJ; Zhou, Linran L; Bizon, Christopher C; Chahin, Nizar N; Greenwood, Robert S RS; Milko, Laura V LV; Shiloh-Malawsky, Yael Y; Crooks, Kristy R KR; Strande, Natasha N; Tennison, Michael M; Tilley, Christian R CR; Brandt, Alicia A; Wilhelmsen, Kirk C KC; Weck, Karen K; Evans, James P JP; Berg, Jonathan S JS
Publication Date: 2018-02
Variant appearance in text: RYR1: 9457G>A; Gly3153Arg
A Landscape of Pharmacogenomic Interactions in Cancer.
Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.
Acta Neuropathologica Communications
Savarese, Marco M; Di Fruscio, Giuseppina G; Mutarelli, Margherita M; Torella, Annalaura A; Magri, Francesca F; Santorelli, Filippo Maria FM; Comi, Giacomo Pietro GP; Bruno, Claudio C; Nigro, Vincenzo V