Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: RYR1: 6617C>T; Thr2206Met
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.
European Journal Of Human Genetics : Ejhg
van der Schoot, Vyne V; Haer-Wigman, Lonneke L; Feenstra, Ilse I; Tammer, Femke F; Oerlemans, Anke J M AJM; van Koolwijk, Martine P A MPA; van Agt, Frans F; Arens, Yvonne H J M YHJM; Brunner, Han G HG; Vissers, Lisenka E L M LELM; Yntema, Helger G HG
Publication Date: 2021-10-25
Variant appearance in text: RYR1: 6617C>T; Thr2206Met
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.
European Journal Of Human Genetics : Ejhg
van der Schoot, Vyne V; Haer-Wigman, Lonneke L; Feenstra, Ilse I; Tammer, Femke F; Oerlemans, Anke J M AJM; van Koolwijk, Martine P A MPA; van Agt, Frans F; Arens, Yvonne H J M YHJM; Brunner, Han G HG; Vissers, Lisenka E L M LELM; Yntema, Helger G HG
Publication Date: 2022-02
Variant appearance in text: RYR1: 6617C>T; Thr2206Met
An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.
Genes
Juntas Morales, Raul R; Perrin, Aurélien A; Solé, Guilhem G; Lacourt, Delphine D; Pegeot, Henri H; Walther-Louvier, Ulrike U; Cintas, Pascal P; Cances, Claude C; Espil, Caroline C; Theze, Corinne C; Zenagui, Reda R; Yauy, Kevin K; Cosset, Elodie E; Renard, Dimitri D; Rigau, Valerie V; Maues de Paula, Andre A; Uro-Coste, Emmanuelle E; Arne-Bes, Marie-Christine MC; Martin Négrier, Marie-Laure ML; Leboucq, Nicolas N; Acket, Blandine B; Malfatti, Edoardo E; Biancalana, Valérie V; Metay, Corinne C; Richard, Pascale P; Rendu, John J; Rivier, François F; Koenig, Michel M; Cossée, Mireille M
Publication Date: 2021-07-31
Variant appearance in text: RYR1: 6617C>T; Thr2206Met
Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Johnston, Jennifer J JJ; Dirksen, Robert T RT; Girard, Thierry T; Gonsalves, Stephen G SG; Hopkins, Philip M PM; Riazi, Sheila S; Saddic, Louis A LA; Sambuughin, Nyamkhishig N; Saxena, Richa R; Stowell, Kathryn K; Weber, James J; Rosenberg, Henry H; Biesecker, Leslie G LG
Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI.
Journal Of Neuromuscular Diseases
Lawal, Tokunbor A TA; Patankar, Aneesh A; Todd, Joshua J JJ; Razaqyar, Muslima S MS; Chrismer, Irene C IC; Zhang, Xuemin X; Waite, Melissa R MR; Jain, Minal S MS; Emile-Backer, Magalie M; Witherspoon, Jessica W JW; Liu, Chia-Ying CY; Grunseich, Christopher C; Meilleur, Katherine G KG
Publication Date: 2021
Variant appearance in text: RYR1: 6617C>T; Thr2206Met
Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.
Plos Genetics
Yu, Mullin Ho Chung MHC; Chan, Marcus Chun Yin MCY; Chung, Claudia Ching Yan CCY; Li, Andrew Wang Tat AWT; Yip, Chara Yin Wa CYW; Mak, Christopher Chun Yu CCY; Chau, Jeffrey Fong Ting JFT; Lee, Mianne M; Fung, Jasmine Lee Fong JLF; Tsang, Mandy Ho Yin MHY; Chan, Joshua Chun Ki JCK; Wong, Wilfred Hing Sang WHS; Yang, Jing J; Chui, William Chun Ming WCM; Chung, Patrick Ho Yu PHY; Yang, Wanling W; Lee, So Lun SL; Chan, Godfrey Chi Fung GCF; Tam, Paul Kwong Hang PKH; Lau, Yu Lung YL; Tang, Clara Sze Man CSM; Yeung, Kit San KS; Chung, Brian Hon Yin BHY
Publication Date: 2021-02
Variant appearance in text: RYR1: 6617C>T; rs118192177
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Nature
Van Hout, Cristopher V CV; Tachmazidou, Ioanna I; Backman, Joshua D JD; Hoffman, Joshua D JD; Liu, Daren D; Pandey, Ashutosh K AK; Gonzaga-Jauregui, Claudia C; Khalid, Shareef S; Ye, Bin B; Banerjee, Nilanjana N; Li, Alexander H AH; O'Dushlaine, Colm C; Marcketta, Anthony A; Staples, Jeffrey J; Schurmann, Claudia C; Hawes, Alicia A; Maxwell, Evan E; Barnard, Leland L; Lopez, Alexander A; Penn, John J; Habegger, Lukas L; Blumenfeld, Andrew L AL; Bai, Xiaodong X; O'Keeffe, Sean S; Yadav, Ashish A; Praveen, Kavita K; Jones, Marcus M; Salerno, William J WJ; Chung, Wendy K WK; Surakka, Ida I; Willer, Cristen J CJ; Hveem, Kristian K; Leader, Joseph B JB; Carey, David J DJ; Ledbetter, David H DH; , ; Cardon, Lon L; Yancopoulos, George D GD; Economides, Aris A; Coppola, Giovanni G; Shuldiner, Alan R AR; Balasubramanian, Suganthi S; Cantor, Michael M; , ; Nelson, Matthew R MR; Whittaker, John J; Reid, Jeffrey G JG; Marchini, Jonathan J; Overton, John D JD; Scott, Robert A RA; Abecasis, Gonçalo R GR; Yerges-Armstrong, Laura L; Baras, Aris A
Publication Date: 2020-10
Variant appearance in text: RYR1: 6617C>T; Thr2206Met
The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers.
European Journal Of Neurology
Kruijt, N N; van den Bersselaar, L R LR; Kamsteeg, E J EJ; Verbeeck, W W; Snoeck, M M J MMJ; Everaerd, D S DS; Abdo, W F WF; Jansen, D R M DRM; Erasmus, C E CE; Jungbluth, H H; Voermans, N C NC
Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
van Rooij, Jeroen J; Arp, Pascal P; Broer, Linda L; Verlouw, Joost J; van Rooij, Frank F; Kraaij, Robert R; Uitterlinden, André A; Verkerk, Annemieke J M H AJMH
Publication Date: 2020-11
Variant appearance in text: RYR1: 6617C>T; Thr2206Met; rs118192177
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Töpf, Ana A; Johnson, Katherine K; Bates, Adam A; Phillips, Lauren L; Chao, Katherine R KR; England, Eleina M EM; Laricchia, Kristen M KM; Mullen, Thomas T; Valkanas, Elise E; Xu, Liwen L; Bertoli, Marta M; Blain, Alison A; Casasús, Ana B AB; Duff, Jennifer J; Mroczek, Magdalena M; Specht, Sabine S; Lek, Monkol M; Ensini, Monica M; MacArthur, Daniel G DG; , ; Straub, Volker V
Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019.
Orphanet Journal Of Rare Diseases
Lawal, Tokunbor A TA; Wires, Emily S ES; Terry, Nancy L NL; Dowling, James J JJ; Todd, Joshua J JJ
The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly.
Nature Communications
Pinese, Mark M; Lacaze, Paul P; Rath, Emma M EM; Stone, Andrew A; Brion, Marie-Jo MJ; Ameur, Adam A; Nagpal, Sini S; Puttick, Clare C; Husson, Shane S; Degrave, Dmitry D; Cristina, Tina Navin TN; Kahl, Vivian F S VFS; Statham, Aaron L AL; Woods, Robyn L RL; McNeil, John J JJ; Riaz, Moeen M; Barr, Margo M; Nelson, Mark R MR; Reid, Christopher M CM; Murray, Anne M AM; Shah, Raj C RC; Wolfe, Rory R; Atkins, Joshua R JR; Fitzsimmons, Chantel C; Cairns, Heath M HM; Green, Melissa J MJ; Carr, Vaughan J VJ; Cowley, Mark J MJ; Pickett, Hilda A HA; James, Paul A PA; Powell, Joseph E JE; Kaplan, Warren W; Gibson, Greg G; Gyllensten, Ulf U; Cairns, Murray J MJ; McNamara, Martin M; Dinger, Marcel E ME; Thomas, David M DM
RYR1 Sequence Variants in Myopathies: Expression and Functional Studies in Two Families.
Biomed Research International
Zullo, Alberto A; Perrotta, Giuseppa G; D'Angelo, Rossana R; Ruggiero, Lucia L; Gravino, Elvira E; Del Vecchio, Luigi L; Santoro, Lucio L; Salvatore, Francesco F; Carsana, Antonella A
The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations.
Journal Of Neurology
Knuiman, G J GJ; Küsters, B B; Eshuis, L L; Snoeck, M M; Lammens, M M; Heytens, L L; De Ridder, W W; Baets, J J; Scalco, R S RS; Quinlivan, R R; Holton, J J; Bodi, I I; Wraige, E E; Radunovic, A A; von Landenberg, C C; Reimann, J J; Kamsteeg, E-J EJ; Sewry, C C; Jungbluth, H H; Voermans, N C NC
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes.
Clinical Pharmacology And Therapeutics
Gonsalves, Stephen G SG; Dirksen, Robert T RT; Sangkuhl, Katrin K; Pulk, Rebecca R; Alvarellos, Maria M; Vo, Teresa T; Hikino, Keiko K; Roden, Dan D; Klein, Teri E TE; Poler, S Mark SM; Patel, Sephalie S; Caudle, Kelly E KE; Gordon, Ronald R; Brandom, Barbara B; Biesecker, Leslie G LG
RYR1 and CACNA1S genetic variants identified with statin-associated muscle symptoms.
Pharmacogenomics
Isackson, Paul J PJ; Wang, Jianxin J; Zia, Mohammad M; Spurgeon, Paul P; Levesque, Adrian A; Bard, Jonathan J; James, Smitha S; Nowak, Norma N; Lee, Tae Keun TK; Vladutiu, Georgirene D GD
Genetic epidemiology of malignant hyperthermia in the UK.
British Journal Of Anaesthesia
Miller, D M DM; Daly, C C; Aboelsaod, E M EM; Gardner, L L; Hobson, S J SJ; Riasat, K K; Shepherd, S S; Robinson, R L RL; Bilmen, J G JG; Gupta, P K PK; Shaw, M-A MA; Hopkins, P M PM
Publication Date: 2018-10
Variant appearance in text: RYR1: 6617C>T; Thr2206Met
Correlation of phenotype with genotype and protein structure in RYR1-related disorders.
Journal Of Neurology
Todd, Joshua J JJ; Sagar, Vatsala V; Lawal, Tokunbor A TA; Allen, Carolyn C; Razaqyar, Muslima S MS; Shelton, Monique S MS; Chrismer, Irene C IC; Zhang, Xuemin X; Cosgrove, Mary M MM; Kuo, Anna A; Vasavada, Ruhi R; Jain, Minal S MS; Waite, Melissa M; Rajapakse, Dinusha D; Witherspoon, Jessica W JW; Wistow, Graeme G; Meilleur, Katherine G KG
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
Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.
Orphanet Journal Of Rare Diseases
Klingler, Werner W; Heiderich, Sebastian S; Girard, Thierry T; Gravino, Elvira E; Heffron, James Ja JJ; Johannsen, Stephan S; Jurkat-Rott, Karin K; Rüffert, Henrik H; Schuster, Frank F; Snoeck, Marc M; Sorrentino, Vincenzo V; Tegazzin, Vincenzo V; Lehmann-Horn, Frank F
Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.
Anesthesia And Analgesia
Brandom, Barbara W BW; Bina, Saiid S; Wong, Cynthia A CA; Wallace, Tarina T; Visoiu, Mihaela M; Isackson, Paul J PJ; Vladutiu, Georgirene D GD; Sambuughin, Nyamkhishig N; Muldoon, Sheila M SM
Exercise-induced rhabdomyolysis and stress-induced malignant hyperthermia events, association with malignant hyperthermia susceptibility, and RYR1 gene sequence variations.
Special article: Future directions in malignant hyperthermia research and patient care.
Anesthesia And Analgesia
Hirshey Dirksen, Sharon J SJ; Larach, Marilyn Green MG; Rosenberg, Henry H; Brandom, Barbara W BW; Parness, Jerome J; Lang, Robert Scott RS; Gangadharan, Meera M; Pezalski, Tyler T