Iqbal S, Pérez-Palma E, Jespersen JB, et al. Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants. Proc Natl Acad Sci U S A. 2020;117(45):28201-28211. doi:10.1073/pnas.2002660117
van Setten J, Brody JA, Jamshidi Y, et al. PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity. Nat Commun. 2018;9(1):2904. doi:10.1038/s41467-018-04766-9
Macri V, Brody JA, Arking DE, et al. Common Coding Variants in Are Associated With the Nav1.8 Late Current and Cardiac Conduction. Circ Genom Precis Med. 2018;11(5):e001663. doi:10.1161/CIRCGEN.116.001663
Hermle T, Schneider R, Schapiro D, et al. and Mutations Implicate RAB5 Regulation in Nephrotic Syndrome. J Am Soc Nephrol. 2018;29(8):2123-2138. doi:10.1681/ASN.2017121312
Achkar CME, Harrer M, Smith L, et al. Characterization of the GABRB2-Associated Neurodevelopmental Disorders. Ann Neurol. 2021;89(3):573-586. doi:10.1002/ana.25985
Khetarpal SA, Zeng X, Millar JS, et al. A human APOC3 missense variant and monoclonal antibody accelerate apoC-III clearance and lower triglyceride-rich lipoprotein levels. Nat Med. 2017;23(9):1086-1094. doi:10.1038/nm.4390
Heyne HO, Baez-Nieto D, Iqbal S, et al. Predicting functional effects of missense variants in voltage-gated sodium and calcium channels. Sci Transl Med. 2020;12(556). doi:10.1126/scitranslmed.aay6848
Perić S, Glumac JN, Topf A, et al. A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population. Eur J Hum Genet. 2017;25(5):572-581. doi:10.1038/ejhg.2017.16
Perlstein EO, Ruderfer DM, Roberts DC, Schreiber SL, Kruglyak L. Genetic basis of individual differences in the response to small-molecule drugs in yeast. Nat Genet. 2007;39(4):496-502. doi:10.1038/ng1991
Konersman CG, Freyermuth F, Winder TL, Lawlor MW, Lagier-Tourenne C, Patel SB. Novel autosomal dominant TNNT1 mutation causing nemaline myopathy. Mol Genet Genomic Med. 2017;5(6):678-691. doi:10.1002/mgg3.325