Aneichyk T, Hendriks WT, Yadav R, et al. Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly. Cell. 2018;172(5):897-909.e21. doi:10.1016/j.cell.2018.02.011
Hu R, Morley MP, Brandimarto J, et al. Genetic Reduction in Left Ventricular Protein Kinase C-α and Adverse Ventricular Remodeling in Human Subjects. Circ Genom Precis Med. 2018;11(3):e001901. doi:10.1161/CIRCGEN.117.001901
Taylor AR, Schaffner SF, Cerqueira GC, et al. Quantifying connectivity between local Plasmodium falciparum malaria parasite populations using identity by descent. PLoS Genet. 2017;13(10):e1007065. doi:10.1371/journal.pgen.1007065
Early AM, Lievens M, MacInnis BL, et al. Host-mediated selection impacts the diversity of Plasmodium falciparum antigens within infections. Nat Commun. 2018;9(1):1381. doi:10.1038/s41467-018-03807-7
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
Akbari A, Vitti JJ, Iranmehr A, et al. Identifying the favored mutation in a positive selective sweep. Nat Methods. 2018;15(4):279-282. doi:10.1038/nmeth.4606
Schilit SLP, Morton CC. 3C-PCR: a novel proximity ligation-based approach to phase chromosomal rearrangement breakpoints with distal allelic variants. Hum Genet. 2018;137(1):55-62. doi:10.1007/s00439-017-1853-0
Olalde I, Brace S, Allentoft ME, et al. The Beaker phenomenon and the genomic transformation of northwest Europe. Nature. 2018;555(7695):190-196. doi:10.1038/nature25738
Keum JW, Shin A, Gillis T, et al. The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease. Am J Hum Genet. 2016;98(2):287-98. doi:10.1016/j.ajhg.2015.12.018
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