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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

Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis.

Levine RL, Wadleigh M, Cools J, et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell. 2005;7(4):387-97. doi:10.1016/j.ccr.2005.03.023

Directional dominance on stature and cognition in diverse human populations.

Joshi PK, Esko T, Mattsson H, et al. Directional dominance on stature and cognition in diverse human populations. Nature. 2015;523(7561):459-62. doi:10.1038/nature14618

Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia.

Rees E, Kirov G, Walters JT, et al. Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia. Transl Psychiatry. 2015;5:e607. doi:10.1038/tp.2015.99

Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals.

Ghani M, Reitz C, Cheng R, et al. Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals. JAMA Neurol. 2015;72(11):1313-23. doi:10.1001/jamaneurol.2015.1700

Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion.

Hogarth MW, Garton FC, Houweling PJ, et al. Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion. Hum Mol Genet. 2016;25(5):866-77. doi:10.1093/hmg/ddv613

Health and population effects of rare gene knockouts in adult humans with related parents.

Narasimhan VM, Hunt KA, Mason D, et al. Health and population effects of rare gene knockouts in adult humans with related parents. Science. 2016;352(6284):474-7. doi:10.1126/science.aac8624

Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease.

Zanoni P, Khetarpal SA, Larach DB, et al. Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease. Science. 2016;351(6278):1166-71. doi:10.1126/science.aad3517

COMT Val(158) Met genotype is associated with reward learning: a replication study and meta-analysis.

Corral-Frías NS, Pizzagalli DA, Carré JM, et al. COMT Val(158) Met genotype is associated with reward learning: a replication study and meta-analysis. Genes Brain Behav. 2016;15(5):503-13. doi:10.1111/gbb.12296

Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy.

Ivansson EL, Megquier K, Kozyrev SV, et al. Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy. Proc Natl Acad Sci U S A. 2016;113(22):E3091-100. doi:10.1073/pnas.1600084113