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Page 1
Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility.
Johnston JJ, Dirksen RT, Girard T, Hopkins PM, Kraeva N, Ognoon M, Radenbaugh KB, Riazi S, Robinson RL, Saddic Iii LA, Sambuughin N, Saxena R, Shepherd S, Stowell K, Weber J, Yoo S, Rosenberg H, Biesecker LG. Johnston JJ, et al. Hum Mol Genet. 2022 Nov 28;31(23):4087-4093. doi: 10.1093/hmg/ddac145. Hum Mol Genet. 2022. PMID: 35849058 Free PMC article.
Adaptive thermogenesis enhances the life-threatening response to heat in mice with an Ryr1 mutation.
Wang HJ, Lee CS, Yee RSZ, Groom L, Friedman I, Babcock L, Georgiou DK, Hong J, Hanna AD, Recio J, Choi JM, Chang T, Agha NH, Romero J, Sarkar P, Voermans N, Gaber MW, Jung SY, Baker ML, Pautler RG, Dirksen RT, Riazi S, Hamilton SL. Wang HJ, et al. Nat Commun. 2020 Oct 9;11(1):5099. doi: 10.1038/s41467-020-18865-z. Nat Commun. 2020. PMID: 33037202 Free PMC article.
Genomic Screening for Malignant Hyperthermia Susceptibility.
Biesecker LG, Dirksen RT, Girard T, Hopkins PM, Riazi S, Rosenberg H, Stowell K, Weber J. Biesecker LG, et al. Anesthesiology. 2020 Dec 1;133(6):1277-1282. doi: 10.1097/ALN.0000000000003547. Anesthesiology. 2020. PMID: 32898259 Free PMC article. Review.
Mouse model of severe recessive RYR1-related myopathy.
Brennan S, Garcia-Castañeda M, Michelucci A, Sabha N, Malik S, Groom L, Wei LaPierre L, Dowling JJ, Dirksen RT. Brennan S, et al. Hum Mol Genet. 2019 Sep 15;28(18):3024-3036. doi: 10.1093/hmg/ddz105. Hum Mol Genet. 2019. PMID: 31107960 Free PMC article.
39 results