Johnson K, Bertoli M, Phillips L, et al. Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness. Skelet Muscle. 2018;8(1):23. doi:10.1186/s13395-018-0170-1
Castaldi PJ, Guo F, Qiao D, et al. Identification of Functional Variants in the FAM13A Chronic Obstructive Pulmonary Disease Genome-Wide Association Study Locus by Massively Parallel Reporter Assays. Am J Respir Crit Care Med. 2019;199(1):52-61. doi:10.1164/rccm.201802-0337OC
Shaaban S, MacKinnon S, Andrews C, et al. Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect. Invest Ophthalmol Vis Sci. 2018;59(10):4054-4064. doi:10.1167/iovs.18-24082
Khera AV, Chaffin M, Aragam KG, et al. Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations. Nat Genet. 2018;50(9):1219-1224. doi:10.1038/s41588-018-0183-z
Castel SE, Cervera A, Mohammadi P, et al. Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk. Nat Genet. 2018;50(9):1327-1334. doi:10.1038/s41588-018-0192-y
Scally SW, Law SC, Ting YT, et al. Molecular basis for increased susceptibility of Indigenous North Americans to seropositive rheumatoid arthritis. Ann Rheum Dis. 2017;76(11):1915-1923. doi:10.1136/annrheumdis-2017-211300
Christensen KD, Uhlmann WR, Roberts S, et al. A randomized controlled trial of disclosing genetic risk information for Alzheimer disease via telephone. Genet Med. 2018;20(1):132-141. doi:10.1038/gim.2017.103
Karasik D, Demissie S, Lu D, et al. Bone Strength Estimated by Micro-Finite Element Analysis (µFEA) Is Heritable and Shares Genetic Predisposition With Areal BMD: The Framingham Study. J Bone Miner Res. 2017;32(11):2151-2156. doi:10.1002/jbmr.3200
Leonenko G, Richards AL, Walters JT, et al. Mutation intolerant genes and targets of FMRP are enriched for nonsynonymous alleles in schizophrenia. Am J Med Genet B Neuropsychiatr Genet. 2017;174(7):724-731. doi:10.1002/ajmg.b.32560
Zepeda-Mendoza CJ, Ibn-Salem J, Kammin T, et al. Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements. Am J Hum Genet. 2017;101(2):206-217. doi:10.1016/j.ajhg.2017.06.011