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Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification.
O'Neill MJ, Ng CA, Aizawa T, Sala L, Bains S, Winbo A, Ullah R, Shen Q, Tan CY, Kozek K, Vanags LR, Mitchell DW, Shen A, Wada Y, Kashiwa A, Crotti L, Dagradi F, Musu G, Spazzolini C, Neves R, Bos JM, Giudicessi JR, Bledsoe X, Gamazon ER, Lancaster M, Glazer AM, Knollmann BC, Roden DM, Weile J, Roth F, Salem JE, Earle N, Stiles R, Agee T, Johnson CN, Horie M, Skinner J, Ackerman MJ, Schwartz PJ, Ohno S, Vandenberg JI, Kroncke BM. O'Neill MJ, et al. Among authors: glazer am. medRxiv [Preprint]. 2024 Jun 18:2024.02.01.24301443. doi: 10.1101/2024.02.01.24301443. medRxiv. 2024. Update in: Circulation. 2024 Sep 24. doi: 10.1161/CIRCULATIONAHA.124.069828 PMID: 38370760 Free PMC article. Updated. Preprint.
Arrhythmia genetics: Not dark and lite, but 50 shades of gray.
Roden DM, Glazer AM, Kroncke B. Roden DM, et al. Among authors: glazer am. Heart Rhythm. 2018 Aug;15(8):1231-1232. doi: 10.1016/j.hrthm.2018.04.031. Epub 2018 Apr 27. Heart Rhythm. 2018. PMID: 29709575 Free PMC article. No abstract available.
Deep Mutational Scan of an SCN5A Voltage Sensor.
Glazer AM, Kroncke BM, Matreyek KA, Yang T, Wada Y, Shields T, Salem JE, Fowler DM, Roden DM. Glazer AM, et al. Circ Genom Precis Med. 2020 Feb;13(1):e002786. doi: 10.1161/CIRCGEN.119.002786. Epub 2020 Jan 12. Circ Genom Precis Med. 2020. PMID: 31928070 Free PMC article.
High-Throughput Reclassification of SCN5A Variants.
Glazer AM, Wada Y, Li B, Muhammad A, Kalash OR, O'Neill MJ, Shields T, Hall L, Short L, Blair MA, Kroncke BM, Capra JA, Roden DM. Glazer AM, et al. Am J Hum Genet. 2020 Jul 2;107(1):111-123. doi: 10.1016/j.ajhg.2020.05.015. Epub 2020 Jun 12. Am J Hum Genet. 2020. PMID: 32533946 Free PMC article.
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: glazer am. 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: glazer am. 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.
101 results