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Page 1
Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility.
Hum Mol Genet. 2022 Nov 28;31(23):4087-4093. doi: 10.1093/hmg/ddac145.
Hum Mol Genet. 2022.
PMID: 35849058
Free PMC article.
The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort.
Johnston JJ, Brennan ML, Radenbaugh B, Yoo SJ, Hernandez SM; NHGRI Reverse Phenotyping Core; Lewis KL, Katz AE, Manolio TA, Biesecker LG.
Johnston JJ, et al. Among authors: radenbaugh b.
Genet Med. 2022 Mar;24(3):736-743. doi: 10.1016/j.gim.2021.11.012. Epub 2021 Nov 18.
Genet Med. 2022.
PMID: 34906458
Free PMC article.
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Comparison of literature mining tools for variant classification: Through the lens of 50 RYR1 variants.
Wermers Z, Yoo S, Radenbaugh B, Douglass A, Biesecker LG, Johnston JJ.
Wermers Z, et al. Among authors: radenbaugh b.
Genet Med. 2024 Apr;26(4):101083. doi: 10.1016/j.gim.2024.101083. Epub 2024 Jan 26.
Genet Med. 2024.
PMID: 38281099
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Comparison of literature mining tools for variant classification: Through the lens of 50 RYR1 variants.
Wermers Z, Yoo S, Radenbaugh B, Douglass A, Biesecker LG, Johnston JJ.
Wermers Z, et al. Among authors: radenbaugh b.
Genet Med. 2024 May 15:101157. doi: 10.1016/j.gim.2024.101157. Online ahead of print.
Genet Med. 2024.
PMID: 38748538
No abstract available.
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Response to Kiel and Kozaric regarding "Comparison of Literature Mining Tools for Variant Classification: Through the Lens of Fifty RYR1 Variants" by Wermers et al.
Wermers Z, Yoo S, Radenbaugh B, Douglass A, Biesecker LG, Johnston JJ.
Wermers Z, et al. Among authors: radenbaugh b.
Genet Med. 2024 May 7:101162. doi: 10.1016/j.gim.2024.101162. Online ahead of print.
Genet Med. 2024.
PMID: 38726793
No abstract available.
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