Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database.
European Journal Of Human Genetics : Ejhg
Fridriksdottir, Run R; Jonsson, Arnar J AJ; Jensson, Brynjar O BO; Sverrisson, Kristinn O KO; Arnadottir, Gudny A GA; Skarphedinsdottir, Sigurbjorg J SJ; Katrinardottir, Hildigunnur H; Snaebjornsdottir, Steinunn S; Jonsson, Hakon H; Eiriksson, Ogmundur O; Oskarsson, Gudjon R GR; Oddsson, Asmundur A; Jonasdottir, Adalbjorg A; Jonasdottir, Aslaug A; Sigurdsson, Gisli H GH; Indridason, Einar P EP; Sigurdsson, Stefan B SB; Bjornsdottir, Gyda G; Saemundsdottir, Jona J; Magnusson, Olafur T OT; Bjornsson, Hans T HT; Thorsteinsdottir, Unnur U; Sigurdsson, Theodor S TS; Sulem, Patrick P; Sigurdsson, Martin I MI; Stefansson, Kari K
Publication Date: 2021-12
Variant appearance in text: RYR1: 12553G>A; Ala4185Thr
Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database.
European Journal Of Human Genetics : Ejhg
Fridriksdottir, Run R; Jonsson, Arnar J AJ; Jensson, Brynjar O BO; Sverrisson, Kristinn O KO; Arnadottir, Gudny A GA; Skarphedinsdottir, Sigurbjorg J SJ; Katrinardottir, Hildigunnur H; Snaebjornsdottir, Steinunn S; Jonsson, Hakon H; Eiriksson, Ogmundur O; Oskarsson, Gudjon R GR; Oddsson, Asmundur A; Jonasdottir, Adalbjorg A; Jonasdottir, Aslaug A; Sigurdsson, Gisli H GH; Indridason, Einar P EP; Sigurdsson, Stefan B SB; Bjornsdottir, Gyda G; Saemundsdottir, Jona J; Magnusson, Olafur T OT; Bjornsson, Hans T HT; Thorsteinsdottir, Unnur U; Sigurdsson, Theodor S TS; Sulem, Patrick P; Sigurdsson, Martin I MI; Stefansson, Kari K
Publication Date: 2021-12
Variant appearance in text: RYR1: 12553G>A; Ala4185Thr
Intracellular calcium leak as a therapeutic target for RYR1-related myopathies.
Acta Neuropathologica
Kushnir, Alexander A; Todd, Joshua J JJ; Witherspoon, Jessica W JW; Yuan, Qi Q; Reiken, Steven S; Lin, Harvey H; Munce, Ross H RH; Wajsberg, Benjamin B; Melville, Zephan Z; Clarke, Oliver B OB; Wedderburn-Pugh, Kaylee K; Wronska, Anetta A; Razaqyar, Muslima S MS; Chrismer, Irene C IC; Shelton, Monique O MO; Mankodi, Ami A; Grunseich, Christopher C; Tarnopolsky, Mark A MA; Tanji, Kurenai K; Hirano, Michio M; Riazi, Sheila S; Kraeva, Natalia N; Voermans, Nicol C NC; Gruber, Angela A; Allen, Carolyn C; Meilleur, Katherine G KG; Marks, Andrew R AR
Publication Date: 2020-06
Variant appearance in text: RYR1: 12553G>A; Ala4185Thr
Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.
Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.
Cancer Cell
Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD
Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.
Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21
Variant appearance in text: RYR1: 12553G>A; A4185T; rs151119428