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
Publication Date: 2021-07
Variant appearance in text: RYR1: 11266C>G; Gln3756Glu
Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.
Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08
Variant appearance in text: RYR1: Q3756E; rs4802584
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
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Findings of a 1303 Korean whole-exome sequencing study.
Experimental & Molecular Medicine
Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ
Publication Date: 2017-07-14
Variant appearance in text: RYR1: Q3756E; rs4802584
Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.
The Journal Of Pathology
Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R
Publication Date: 2016-11
Variant appearance in text: RYR1: Q3756E; rs4802584
Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.
Scientific Reports
Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I
Publication Date: 2016-07-26
Variant appearance in text: RYR1: Q3756E; rs4802584
Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness.
Anesthesiology
Fiszer, Dorota D; Shaw, Marie-Anne MA; Fisher, Nickla A NA; Carr, Ian M IM; Gupta, Pawan K PK; Watkins, Elizabeth J EJ; Roiz de Sa, Daniel D; Kim, Jerry H JH; Hopkins, Philip M PM
Publication Date: 2015-05
Variant appearance in text: MHS: 11266C>G; rs4802584
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: RYR1: Q3756E; rs4802584
Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease.
Neuromuscular Disorders : Nmd
Kraeva, Natalia N; Zvaritch, Elena E; Rossi, Ann E AE; Goonasekera, Sanjeewa A SA; Zaid, Hilal H; Frodis, Wanda W; Kraev, Alexander A; Dirksen, Robert T RT; Maclennan, David H DH; Riazi, Sheila S
Publication Date: 2013-02
Variant appearance in text: RYR1: Gln3756Glu; rs4802584