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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: sambuughin n. Hum Mol Genet. 2022 Nov 28;31(23):4087-4093. doi: 10.1093/hmg/ddac145. Hum Mol Genet. 2022. PMID: 35849058 Free PMC article.
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: sambuughin n. 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.
Malignant Hyperthermia Susceptibility.
Rosenberg H, Sambuughin N, Riazi S, Dirksen R. Rosenberg H, et al. Among authors: sambuughin n. 2003 Dec 19 [updated 2020 Jan 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2003 Dec 19 [updated 2020 Jan 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301325 Free Books & Documents. Review.
Response to Finsterer and Zarrouk-Mahjoub.
Sambuughin N, Smith J, O'Connor F, Deuster P. Sambuughin N, et al. Mol Genet Metab Rep. 2018 Aug 31;17:2. doi: 10.1016/j.ymgmr.2018.08.004. eCollection 2018 Dec. Mol Genet Metab Rep. 2018. PMID: 30181954 Free PMC article. No abstract available.
Round Table on Malignant Hyperthermia in Physically Active Populations: Meeting Proceedings.
Hosokawa Y, Casa DJ, Rosenberg H, Capacchione JF, Sagui E, Riazi S, Belval LN, Deuster PA, Jardine JF, Kavouras SA, Lee EC, Miller KC, Muldoon SM, O'Connor FG, Sailor SR, Sambuughin N, Stearns RL, Adams WM, Huggins RA, Vandermark LW. Hosokawa Y, et al. Among authors: sambuughin n. J Athl Train. 2017 Apr;52(4):377-383. doi: 10.4085/1062-6050-52.2.06. Epub 2017 Mar 7. J Athl Train. 2017. PMID: 28430550 Free PMC article.
62 results