- Bertalovitz AC, Osterbur Badhey ML, McDonald TV. Synonymous nucleotide modification of the KCNH2 gene affects both mRNA characteristics and translation of the encoded hERG ion channel. J Biol Chem. 2018 Aug 3;293(31):12120-12136. doi: 10.1074/jbc.RA118.001805. Epub 2018 Jun 15. PMID: 29907571
- Liu Z, Zheng R, Kong F, Grushko MJ, Uversky VN, McDonald TV. Functionally aberrant mutant KCNQ1 with intermediate heterozygous and homozygous phenotypes. Can J Cardiol 2018 Sep;34(9):1174-1184. doi: 10.1016/j.cjca.2018.06.015. Epub 2018 Jun 30. PMID: 30170673
- Williams N, Marion R, McDonald TV, Sampson BA, Tang Y. Phenotypic Variations in Carriers of Predicted Protein-truncating Genetic Variants in the MYBPC3 Gene: An autopsy-based Case Series. Cardiovascular Pathol . 2018 Nov - Dec;37:30-33. doi: 10.1016/j.carpath.2018.09.001. Epub 2018 Sep 13.PMID: 30282064
4. Chen J, Liu Z, Creagh J, Zheng R, McDonald TV. Physical and Functional Interaction Sites in Cytoplasmic Domains of KCNQ1 and KCNE1 Channel Subunits. Am J Physiol Heart Circ Physiol. 2020 Feb 1;318(2):H212-H222. PMID: 31834838
5. Muller RD, McDonald T, Pope K, Cragun D. Evaluation of Clinical Practices Related to Variants of Uncertain Significance Results in Inherited Cardiac Arrhythmia and Inherited Cardiomyopathy Genes. Circ Genom Precis Med. 2020 June 10 doi:10.1161/CIRCGEN.119.002789 PMID: 32522017
6. Abouassali O, Chang M, Chidipi B, Martinez JL, Reiser M, Kanithi M, Soni R, McDonald TV, Herweg B, Saiz J, Calcul L, Noujaim SF. In vitro and in vivo cardiac toxicity of flavored electronic nicotine delivery systems. Am J Physiol Heart Circ Physiol. Am J Physiol Heart Circ Physiol. 2021 Jan 1;320(1):H133-H143. doi: 10.1152/ajpheart.00283.2020. Epub 2020 Nov 20. PMID: 33216635
7. Odgis JA, Gallagher KM, Suckiel SA, Donohue KE, Ramos MA, Kelly NR, Bertier G, Blackburn C, Brown K, Fielding L, Lopez J, Aguiniga KL, Maria E, Rodriguez JE, Sebastin M, Teitelman N, Watnick D, Yelton NM, Abhyankar A, Abul-Husn S, Baum A, Bauman LJ, Beal JC, Bloom T, Cunningham-Rundles C, Diaz GA, Dolan S, Ferket BS, Jobanputra V, Kovatch P, McDonald TV, McGoldrick PE, Rhodes R, Rinke ML, Robinson M, Rubinstein A, Shulman LH, Stolte C, Wolf SM, Yozawitz E, Zinberg RE, Greally JM, Gelb BD, Horowitz CR, Wasserstein MP, Kenny EE. The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children. Trials. 2021 Jan 14;22(1):56. doi: 10.1186/s13063-020-04953-4. Erratum in: Trials. 2021 Feb 16;22(1):146. PMID: 33446240; PMC7807444. https://doi.org/10.1186/s13063-020-04953-4
8. Najari Beidokhti M, Bertalovitz A, Ji W, McCormack J, Jefferies L, Sempou E, Khokha MK, McDonald TV*, Lakhani SA*. Functional testing for variant prioritization in a family with Long QT syndrome. Mol Genet Genomics. 2021. 296:p. 823-836. PMID: 33876311 (*co-corresponding authors). https://doi.org/10.1007/s00438-021-01780-3
9. Argenziano MA, Burgos Angulo M, Beidokhti MN, Yang J, Bertalovitz AC, McDonald TV. Generation of a heterozygous FLNC mutation-carrying human iPSC line, USFi002-A, for modeling dilated cardiomyopathy. Stem Cell Res. 2021. 53:p. 102394 PMID: 34088019 https://doi.org/10.1016/j.scr.2021.102394
10. Yang J, Burgos Angulo M, Argenziano MA, Bertalovitz A, Beidokhti MN, McDonald TV. Generation of an iPSC cell line (USFi003-A) from a patient with dilated cardiomyopathy carrying a heterozygous mutation in LMNA (p.R541C). Stem Cell Res. 2021. 54:p. 102396 PMID: 34029931. https://doi.org/10.1016/j.scr.2021.102396
11. Angulo Burgos M, Yang J, Argenziano MA, Bertalovitz A, Beidokhti MN, McDonald TV. Generation of a Friedreich’s Ataxia patient-derived iPSC line USFi001-A. Stem Cell Res. 2021. 54: p. 102399. PMID: 34034220. https://doi.org/10.1016/j.scr.2021.102399
12. Yang J, Samal E, Burgos Angulo M, Bertalovitz A, McDonald TV. Generation of an arrhythmogenic right ventricular cardiomyopathy derived iPSC cell line (USFi004-A) carrying a heterozygous mutation in PKP2 (c.1799delA). Stem Cell Res, 2021. 54: p. 102398. 102398. PMID: 34034221. https://doi.org/10.1016/j.scr.2021.102398
13. Yang J, Burgos Angulo M, Argenziano MA, Bertalovitz A, Beidokhti MN, McDonald TV. Phenotypic Variability in iPSC-induced Cardiomyocytes and Cardiac Fibroblasts Carrying Diverse LMNA Mutations. Frontiers in Physiology, section Cardiac Electrophysiology 2021. 12: 778982. PMID: 34975533. PMCID: PMC8716763, DOI: 10.3389/fphys.2021.778982
14. Chidipi B, Burgos Angulo M, Shah SI, Rieser M, Ullah G, McDonald TV, Noujaim SF. The Dynamin-Related Protein 1 is Decreased and the Mitochondrial Network is Altered in Friedreich’s Ataxia Cardiomyopathy. International Journal of Biochemistry and Cell Biology 2021. 143:106137. PMID: 34923139 (Accepted). https://doi.org/10.1016/j.biocel.2021.106137
