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DiscoVari: A Web-Based Precision Medicine Tool for Predicting Variant Pathogenicity in Cardiomyopathy- and Channelopathy-Associated Genes.
Kurzlechner LM, Kishnani S, Chowdhury S, Atkins SL, Moya-Mendez ME, Parker LE, Rosamilia MB, Tadros HJ, Pace LA, Patel V, Chahal CAA, Landstrom AP. Kurzlechner LM, et al. Circ Genom Precis Med. 2023 Aug;16(4):317-327. doi: 10.1161/CIRCGEN.122.003911. Epub 2023 Jul 6. Circ Genom Precis Med. 2023. PMID: 37409478 Free PMC article.
ATP1A3-Encoded Sodium-Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With Shortened QT Interval and Predisposition to Ventricular Fibrillation Preceded by Bradycardia.
Moya-Mendez ME, Ogbonna C, Ezekian JE, Rosamilia MB, Prange L, de la Uz C, Kim JJ, Howard T, Garcia J, Nussbaum R, Truty R, Callis TE, Funk E, Heyes M, Dear GL, Carboni MP, Idriss SF, Mikati MA, Landstrom AP. Moya-Mendez ME, et al. J Am Heart Assoc. 2021 Sep 7;10(17):e019887. doi: 10.1161/JAHA.120.019887. Epub 2021 Aug 28. J Am Heart Assoc. 2021. PMID: 34459253 Free PMC article.
GENESIS: Gene-Specific Machine Learning Models for Variants of Uncertain Significance Found in Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome-Associated Genes.
Draelos RL, Ezekian JE, Zhuang F, Moya-Mendez ME, Zhang Z, Rosamilia MB, Manivannan PKR, Henao R, Landstrom AP. Draelos RL, et al. Circ Arrhythm Electrophysiol. 2022 Apr;15(4):e010326. doi: 10.1161/CIRCEP.121.010326. Epub 2022 Mar 31. Circ Arrhythm Electrophysiol. 2022. PMID: 35357185 Free PMC article.
23 results