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Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility.
Johnston JJ, Dirksen RT, Girard T, Gonsalves SG, Hopkins PM, Riazi S, Saddic LA, Sambuughin N, Saxena R, Stowell K, Weber J, Rosenberg H, Biesecker LG. Johnston JJ, et al. Among authors: dirksen rt. Genet Med. 2021 Jul;23(7):1288-1295. doi: 10.1038/s41436-021-01125-w. Epub 2021 Mar 25. Genet Med. 2021. PMID: 33767344 Free PMC article.
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes.
Gonsalves SG, Dirksen RT, Sangkuhl K, Pulk R, Alvarellos M, Vo T, Hikino K, Roden D, Klein TE, Poler SM, Patel S, Caudle KE, Gordon R, Brandom B, Biesecker LG. Gonsalves SG, et al. Among authors: dirksen rt. Clin Pharmacol Ther. 2019 Jun;105(6):1338-1344. doi: 10.1002/cpt.1319. Epub 2019 Jan 24. Clin Pharmacol Ther. 2019. PMID: 30499100 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. Among authors: dirksen rt. Hum Mol Genet. 2019 Sep 15;28(18):3024-3036. doi: 10.1093/hmg/ddz105. Hum Mol Genet. 2019. PMID: 31107960 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. Among authors: dirksen rt. Anesthesiology. 2020 Dec 1;133(6):1277-1282. doi: 10.1097/ALN.0000000000003547. Anesthesiology. 2020. PMID: 32898259 Free PMC article. Review.
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. Among authors: dirksen rt. Nat Commun. 2020 Oct 9;11(1):5099. doi: 10.1038/s41467-020-18865-z. Nat Commun. 2020. PMID: 33037202 Free PMC article.
176 results