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Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

Aung T, Ozaki M, Lee MC, et al. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. Nat Genet. 2017;49(7):993-1004. doi:10.1038/ng.3875

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Guissart C, Latypova X, Rollier P, et al. Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. Am J Hum Genet. 2018;102(5):744-759. doi:10.1016/j.ajhg.2018.02.021

FGFR3 expression in primary and metastatic urothelial carcinoma of the bladder.

Guancial EA, Werner L, Bellmunt J, et al. FGFR3 expression in primary and metastatic urothelial carcinoma of the bladder. Cancer Med. 2014;3(4):835-44. doi:10.1002/cam4.262

Compensatory mutations restore the replication defects caused by cytotoxic T lymphocyte escape mutations in hepatitis C virus polymerase.

Oniangue-Ndza C, Kuntzen T, Kemper M, et al. Compensatory mutations restore the replication defects caused by cytotoxic T lymphocyte escape mutations in hepatitis C virus polymerase. J Virol. 2011;85(22):11883-90. doi:10.1128/JVI.00779-11

HLA-binding properties of tumor neoepitopes in humans.

Fritsch EF, Rajasagi M, Ott PA, Brusic V, Hacohen N, Wu CJ. HLA-binding properties of tumor neoepitopes in humans. Cancer Immunol Res. 2014;2(6):522-9. doi:10.1158/2326-6066.CIR-13-0227

COMT Val 158 Met polymorphism is associated with nonverbal cognition following mild traumatic brain injury.

Winkler EA, Yue JK, McAllister TW, et al. COMT Val 158 Met polymorphism is associated with nonverbal cognition following mild traumatic brain injury. Neurogenetics. 2016;17(1):31-41. doi:10.1007/s10048-015-0467-8

MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia.

Pikman Y, Lee BH, Mercher T, et al. MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med. 2006;3(7):e270. doi:10.1371/journal.pmed.0030270

Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population.

Consortium STD 2, Estrada K, Aukrust I, et al. Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population. JAMA. 2014;311(22):2305-14. doi:10.1001/jama.2014.6511

Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.

Dejanovic B, Djémié T, Grünewald N, et al. Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy. EMBO Mol Med. 2015;7(12):1580-94. doi:10.15252/emmm.201505323

A haplotype-based case-control study of BRCA1 and sporadic breast cancer risk.

Freedman ML, Penney KL, Stram DO, et al. A haplotype-based case-control study of BRCA1 and sporadic breast cancer risk. Cancer Res. 2005;65(16):7516-22. doi:10.1158/0008-5472.CAN-05-0132