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Cis-acting regulation of brain-specific ANK3 gene expression by a genetic variant associated with bipolar disorder.

Rueckert EH, Barker D, Ruderfer D, et al. Cis-acting regulation of brain-specific ANK3 gene expression by a genetic variant associated with bipolar disorder. Mol Psychiatry. 2013;18(8):922-9. doi:10.1038/mp.2012.104

In vivo genome editing improves muscle function in a mouse model of Duchenne muscular dystrophy.

Nelson CE, Hakim CH, Ousterout DG, et al. In vivo genome editing improves muscle function in a mouse model of Duchenne muscular dystrophy. Science. 2016;351(6271):403-7. doi:10.1126/science.aad5143

Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth.

Fromer M, Moran JL, Chambert K, et al. Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth. Am J Hum Genet. 2012;91(4):597-607. doi:10.1016/j.ajhg.2012.08.005

Recurring exon deletions in the HP (haptoglobin) gene contribute to lower blood cholesterol levels.

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