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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: rosenberg h. 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.
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. Among authors: rosenberg h. Hum Mol Genet. 2022 Nov 28;31(23):4087-4093. doi: 10.1093/hmg/ddac145. Hum Mol Genet. 2022. PMID: 35849058 Free PMC article.
Malignant hyperthermia: a review.
Rosenberg H, Pollock N, Schiemann A, Bulger T, Stowell K. Rosenberg H, et al. Orphanet J Rare Dis. 2015 Aug 4;10:93. doi: 10.1186/s13023-015-0310-1. Orphanet J Rare Dis. 2015. PMID: 26238698 Free PMC article. Review.
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: rosenberg h. Anesthesiology. 2020 Dec 1;133(6):1277-1282. doi: 10.1097/ALN.0000000000003547. Anesthesiology. 2020. PMID: 32898259 Free PMC article. Review.
Malignant hyperthermia.
Rosenberg H, Davis M, James D, Pollock N, Stowell K. Rosenberg H, et al. Orphanet J Rare Dis. 2007 Apr 24;2:21. doi: 10.1186/1750-1172-2-21. Orphanet J Rare Dis. 2007. PMID: 17456235 Free PMC article. Review.
1,358 results