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A framework for the interpretation of de novo mutation in human disease.

Samocha KE, Robinson EB, Sanders SJ, et al. A framework for the interpretation of de novo mutation in human disease. Nat Genet. 2014;46(9):944-50. doi:10.1038/ng.3050

Immunochip SNP array identifies novel genetic variants conferring susceptibility to candidaemia.

Kumar V, Cheng SC, Johnson MD, et al. Immunochip SNP array identifies novel genetic variants conferring susceptibility to candidaemia. Nat Commun. 2014;5:4675. doi:10.1038/ncomms5675

Prostate cancer. Ubiquitylome analysis identifies dysregulation of effector substrates in SPOP-mutant prostate cancer.

Theurillat JPP, Udeshi ND, Errington WJ, et al. Prostate cancer. Ubiquitylome analysis identifies dysregulation of effector substrates in SPOP-mutant prostate cancer. Science. 2014;346(6205):85-9. doi:10.1126/science.1250255

Genome-level determination of Plasmodium falciparum blood-stage targets of malarial clinical immunity in the Peruvian Amazon.

Torres KJ, Castrillon CE, Moss EL, et al. Genome-level determination of Plasmodium falciparum blood-stage targets of malarial clinical immunity in the Peruvian Amazon. J Infect Dis. 2015;211(8):1342-51. doi:10.1093/infdis/jiu614

Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability.

Law R, Dixon-Salazar T, Jerber J, et al. Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability. Am J Hum Genet. 2014;95(6):721-8. doi:10.1016/j.ajhg.2014.10.016

Risk profiles for aortic dissection and ruptured or surgically treated aneurysms: a prospective cohort study.

Landenhed M, Engström G, Gottsäter A, et al. Risk profiles for aortic dissection and ruptured or surgically treated aneurysms: a prospective cohort study. J Am Heart Assoc. 2015;4(1):e001513. doi:10.1161/JAHA.114.001513

Identification of small compound biomarkers of pituitary adenoma: a bilateral inferior petrosal sinus sampling study.

Oklu R, Deipolyi AR, Wicky S, et al. Identification of small compound biomarkers of pituitary adenoma: a bilateral inferior petrosal sinus sampling study. J Neurointerv Surg. 2014;6(7):541-6. doi:10.1136/neurintsurg-2013-010821

Age- and sex-specific causal effects of adiposity on cardiovascular risk factors.

Fall T, Hägg S, Ploner A, et al. Age- and sex-specific causal effects of adiposity on cardiovascular risk factors. Diabetes. 2015;64(5):1841-52. doi:10.2337/db14-0988

The study to understand the genetics of the acute response to metformin and glipizide in humans (SUGAR-MGH): design of a pharmacogenetic resource for type 2 diabetes.

Walford GA, Colomo N, Todd JN, et al. The study to understand the genetics of the acute response to metformin and glipizide in humans (SUGAR-MGH): design of a pharmacogenetic resource for type 2 diabetes. PLoS One. 2015;10(3):e0121553. doi:10.1371/journal.pone.0121553

Associations between host gene expression, the mucosal microbiome, and clinical outcome in the pelvic pouch of patients with inflammatory bowel disease.

Morgan XC, Kabakchiev B, Waldron L, et al. Associations between host gene expression, the mucosal microbiome, and clinical outcome in the pelvic pouch of patients with inflammatory bowel disease. Genome Biol. 2015;16:67. doi:10.1186/s13059-015-0637-x