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Phenotype risk scores identify patients with unrecognized Mendelian disease patterns.
Bastarache L, Hughey JJ, Hebbring S, Marlo J, Zhao W, Ho WT, Van Driest SL, McGregor TL, Mosley JD, Wells QS, Temple M, Ramirez AH, Carroll R, Osterman T, Edwards T, Ruderfer D, Velez Edwards DR, Hamid R, Cogan J, Glazer A, Wei WQ, Feng Q, Brilliant M, Zhao ZJ, Cox NJ, Roden DM, Denny JC. Bastarache L, et al. Science. 2018 Mar 16;359(6381):1233-1239. doi: 10.1126/science.aal4043. Science. 2018. PMID: 29590070 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. 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.
Arrhythmia genetics: Not dark and lite, but 50 shades of gray.
Roden DM, Glazer AM, Kroncke B. Roden DM, et al. 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.
A Mechanism of Calmodulin Modulation of the Human Cardiac Sodium Channel.
Johnson CN, Potet F, Thompson MK, Kroncke BM, Glazer AM, Voehler MW, Knollmann BC, George AL Jr, Chazin WJ. Johnson CN, et al. Structure. 2018 May 1;26(5):683-694.e3. doi: 10.1016/j.str.2018.03.005. Epub 2018 Apr 5. Structure. 2018. PMID: 29606593 Free PMC article.
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.
11 results