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
Flannick J, Mercader JM, Fuchsberger C, et al. Exome sequencing of 20,791Â cases of type 2 diabetes and 24,440Â controls. Nature. 2019;570(7759):71-76. doi:10.1038/s41586-019-1231-2
Boettger LM, Salem RM, Handsaker RE, et al. Recurring exon deletions in the HP (haptoglobin) gene contribute to lower blood cholesterol levels. Nat Genet. 2016;48(4):359-66. doi:10.1038/ng.3510
Richards AL, Leonenko G, Walters JT, et al. Exome arrays capture polygenic rare variant contributions to schizophrenia. Hum Mol Genet. 2016;25(5):1001-7. doi:10.1093/hmg/ddv620
Yu B, Pulit SL, Hwang SJ, et al. Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk. Circ Cardiovasc Genet. 2016;9(1):64-70. doi:10.1161/CIRCGENETICS.115.001215
Ombrello MJ, Remmers EF, Tachmazidou I, et al. HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis. Proc Natl Acad Sci U S A. 2015;112(52):15970-5. doi:10.1073/pnas.1520779112
Palamara PF, Francioli LC, Wilton PR, et al. Leveraging Distant Relatedness to Quantify Human Mutation and Gene-Conversion Rates. Am J Hum Genet. 2015;97(6):775-89. doi:10.1016/j.ajhg.2015.10.006
Zheng HF, Forgetta V, Hsu YH, et al. Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture. Nature. 2015;526(7571):112-7. doi:10.1038/nature14878
Lunetta KL, Day FR, Sulem P, et al. Rare coding variants and X-linked loci associated with age at menarche. Nat Commun. 2015;6:7756. doi:10.1038/ncomms8756
Balick DJ, Do R, Cassa CA, Reich D, Sunyaev SR. Dominance of Deleterious Alleles Controls the Response to a Population Bottleneck. PLoS Genet. 2015;11(8):e1005436. doi:10.1371/journal.pgen.1005436