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High risk population isolate reveals low frequency variants predisposing to intracranial aneurysms.

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

Comprehensive functional annotation of 77 prostate cancer risk loci.

Hazelett DJ, Rhie SK, Gaddis M, et al. Comprehensive functional annotation of 77 prostate cancer risk loci. PLoS Genet. 2014;10(1):e1004102. doi:10.1371/journal.pgen.1004102

Integration of sequence data from a Consanguineous family with genetic data from an outbred population identifies PLB1 as a candidate rheumatoid arthritis risk gene.

Okada Y, Diogo D, Greenberg JD, et al. Integration of sequence data from a Consanguineous family with genetic data from an outbred population identifies PLB1 as a candidate rheumatoid arthritis risk gene. PLoS One. 2014;9(2):e87645. doi:10.1371/journal.pone.0087645

Genetic association analysis of 300 genes identifies a risk haplotype in SLC18A2 for post-traumatic stress disorder in two independent samples.

Solovieff N, Roberts AL, Ratanatharathorn A, et al. Genetic association analysis of 300 genes identifies a risk haplotype in SLC18A2 for post-traumatic stress disorder in two independent samples. Neuropsychopharmacology. 2014;39(8):1872-9. doi:10.1038/npp.2014.34

Characterizing the genetic basis of methylome diversity in histologically normal human lung tissue.

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

Genome-wide association study for circulating tissue plasminogen activator levels and functional follow-up implicates endothelial STXBP5 and STX2.

Huang J, Huffman JE, Yamakuchi M, et al. Genome-wide association study for circulating tissue plasminogen activator levels and functional follow-up implicates endothelial STXBP5 and STX2. Arterioscler Thromb Vasc Biol. 2014;34(5):1093-101. doi:10.1161/ATVBAHA.113.302088

Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL.

Opherk C, Gonik M, Duering M, et al. Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL. Stroke. 2014;45(4):968-72. doi:10.1161/STROKEAHA.113.004461

Pathway analyses implicate glial cells in schizophrenia.

Duncan LE, Holmans PA, Lee PH, et al. Pathway analyses implicate glial cells in schizophrenia. PLoS One. 2014;9(2):e89441. doi:10.1371/journal.pone.0089441

Genetic modifiers and subtypes in schizophrenia: investigations of age at onset, severity, sex and family history.

Bergen SE, O’Dushlaine CT, Lee PH, et al. Genetic modifiers and subtypes in schizophrenia: investigations of age at onset, severity, sex and family history. Schizophr Res. 2014;154(1-3):48-53. doi:10.1016/j.schres.2014.01.030

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.

Zhang X, Ling J, Barcia G, et al. Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. Am J Hum Genet. 2014;94(4):547-58. doi:10.1016/j.ajhg.2014.03.003