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A Bayesian method to estimate variant-induced disease penetrance.
Kroncke BM, Smith DK, Zuo Y, Glazer AM, Roden DM, Blume JD. Kroncke BM, et al. Among authors: blume jd. PLoS Genet. 2020 Jun 22;16(6):e1008862. doi: 10.1371/journal.pgen.1008862. eCollection 2020 Jun. PLoS Genet. 2020. PMID: 32569262 Free PMC article.
Estimating the Posttest Probability of Long QT Syndrome Diagnosis for Rare KCNH2 Variants.
Kozek K, Wada Y, Sala L, Denjoy I, Egly C, O'Neill MJ, Aiba T, Shimizu W, Makita N, Ishikawa T, Crotti L, Spazzolini C, Kotta MC, Dagradi F, Castelletti S, Pedrazzini M, Gnecchi M, Leenhardt A, Salem JE, Ohno S, Zuo Y, Glazer AM, Mosley JD, Roden DM, Knollmann BC, Blume JD, Extramiana F, Schwartz PJ, Horie M, Kroncke BM. Kozek K, et al. Among authors: blume jd. Circ Genom Precis Med. 2021 Aug;14(4):e003289. doi: 10.1161/CIRCGEN.120.003289. Epub 2021 Jul 26. Circ Genom Precis Med. 2021. PMID: 34309407 Free PMC article.
Predicting the Functional Impact of KCNQ1 Variants of Unknown Significance.
Li B, Mendenhall JL, Kroncke BM, Taylor KC, Huang H, Smith DK, Vanoye CG, Blume JD, George AL Jr, Sanders CR, Meiler J. Li B, et al. Among authors: blume jd. Circ Cardiovasc Genet. 2017 Oct;10(5):e001754. doi: 10.1161/CIRCGENETICS.117.001754. Circ Cardiovasc Genet. 2017. PMID: 29021305 Free PMC article.
87 results