Kurki MI, Gaál EI, Kettunen J, et al. High risk population isolate reveals low frequency variants predisposing to intracranial aneurysms. PLoS Genet. 2014;10(1):e1004134. doi:10.1371/journal.pgen.1004134
Peloso GM, Auer PL, Bis JC, et al. Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks. Am J Hum Genet. 2014;94(2):223-32. doi:10.1016/j.ajhg.2014.01.009
Shi J, Marconett CN, Duan J, et al. Characterizing the genetic basis of methylome diversity in histologically normal human lung tissue. Nat Commun. 2014;5:3365. doi:10.1038/ncomms4365
Chan Y, Lim ET, Sandholm N, et al. An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases. Am J Hum Genet. 2014;94(3):437-52. doi:10.1016/j.ajhg.2014.02.006
Biffi A, Sabuncu MR, Desikan RS, et al. Genetic variation of oxidative phosphorylation genes in stroke and Alzheimer’s disease. Neurobiol Aging. 2014;35(8):1956.e1-8. doi:10.1016/j.neurobiolaging.2014.01.141
Macarthur DG, Manolio TA, Dimmock DP, et al. Guidelines for investigating causality of sequence variants in human disease. Nature. 2014;508(7497):469-76. doi:10.1038/nature13127
Forsberg LA, Rasi C, Malmqvist N, et al. Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer. Nat Genet. 2014;46(6):624-8. doi:10.1038/ng.2966
Saxena R, Bjonnes A, Prescott J, et al. Genome-wide association study identifies variants in casein kinase II (CSNK2A2) to be associated with leukocyte telomere length in a Punjabi Sikh diabetic cohort. Circ Cardiovasc Genet. 2014;7(3):287-95. doi:10.1161/CIRCGENETICS.113.000412
Sergouniotis PI, Chakarova C, Murphy C, et al. Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy. Am J Hum Genet. 2014;94(5):760-9. doi:10.1016/j.ajhg.2014.04.003
Pearson-Fuhrhop KM, Dunn EC, Mortero S, et al. Dopamine genetic risk score predicts depressive symptoms in healthy adults and adults with depression. PLoS One. 2014;9(5):e93772. doi:10.1371/journal.pone.0093772