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Chen, W. et al. TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease. Hum Mutat 41, 182-195 (2020).
Fung, J. L. F. et al. A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis. NPJ Genom Med 5, 37 (2020).
Pirruccello, J. P. et al. Titin Truncating Variants in Adults Without Known Congestive Heart Failure. J Am Coll Cardiol 75, 1239-1241 (2020).
Atzmony, L. et al. Topical cholesterol/lovastatin for the treatment of porokeratosis: A pathogenesis-directed therapy. J Am Acad Dermatol 82, 123-131 (2020).
Ferraro, N. M. et al. Transcriptomic signatures across human tissues identify functional rare genetic variation. Science 369, (2020).
Brun, F. et al. truncations cause arrhythmogenic right ventricular cardiomyopathy. J Med Genet 57, 254-257 (2020).
Ugwu, N., Choate, K. A. & Atzmony, L. Two percent lovastatin ointment as a pathogenesis-directed monotherapy for porokeratosis. JAAD Case Rep 6, 1110-1112 (2020).
Sajuthi, S. P. et al. Type 2 and interferon inflammation regulate SARS-CoV-2 entry factor expression in the airway epithelium. Nat Commun 11, 5139 (2020).
Sajuthi, S. P. et al. Type 2 and interferon inflammation strongly regulate SARS-CoV-2 related gene expression in the airway epithelium. bioRxiv (2020). doi:10.1101/2020.04.09.034454
Yi, J. - S., Perla, S., Enyenihi, L. & Bennett, A. M. Tyrosyl phosphorylation of PZR promotes hypertrophic cardiomyopathy in PTPN11-associated Noonan syndrome with multiple lentigines. JCI Insight 5, (2020).