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Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density.

Alonso N, Estrada K, Albagha OME, et al. Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density. Ann Rheum Dis. 2018;77(3):378-385. doi:10.1136/annrheumdis-2017-212469

Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities.

Talkowski ME, Maussion G, Crapper L, et al. Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities. Am J Hum Genet. 2012;91(6):1128-34. doi:10.1016/j.ajhg.2012.10.016

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

Targeted resequencing of the pericentromere of chromosome 2 linked to constitutional delay of growth and puberty.

Cousminer DL, Leinonen JT, Sarin AP, et al. Targeted resequencing of the pericentromere of chromosome 2 linked to constitutional delay of growth and puberty. PLoS One. 2015;10(6):e0128524. doi:10.1371/journal.pone.0128524

Two loci on chromosomes 2 and X for premature coronary heart disease identified in early- and late-settlement populations of Finland.

Pajukanta P, Cargill M, Viitanen L, et al. Two loci on chromosomes 2 and X for premature coronary heart disease identified in early- and late-settlement populations of Finland. Am J Hum Genet. 2000;67(6):1481-93. doi:10.1086/316902

A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16.

Lee N, Daly MJ, DelMonte T, et al. A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16. Am J Hum Genet. 2001;68(2):397-409. doi:10.1086/318197