Evrony GD, Cordero DR, Shen J, et al. Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor as the cause of microcephaly-micromelia syndrome. Genome Res. 2017;27(8):1323-1335. doi:10.1101/gr.219899.116
Witt SH, Streit F, Jungkunz M, et al. Genome-wide association study of borderline personality disorder reveals genetic overlap with bipolar disorder, major depression and schizophrenia. Transl Psychiatry. 2017;7(6):e1155. doi:10.1038/tp.2017.115
Adalsteinsson VA, Ha G, Freeman SS, et al. Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors. Nat Commun. 2017;8(1):1324. doi:10.1038/s41467-017-00965-y
Jonsson S, Sveinbjornsson G, Portilla AL de L, et al. Identification of sequence variants influencing immunoglobulin levels. Nat Genet. 2017;49(8):1182-1191. doi:10.1038/ng.3897
Yu L, Lutz MW, Farfel JM, et al. Neuropathologic features of TOMM40 ’523 variant on late-life cognitive decline. Alzheimers Dement. 2017;13(12):1380-1388. doi:10.1016/j.jalz.2017.05.002
Went M, Sud A, Law PJ, et al. Assessing the effect of obesity-related traits on multiple myeloma using a Mendelian randomisation approach. Blood Cancer J. 2017;7(6):e573. doi:10.1038/bcj.2017.48
Purcell SM, Manoach DS, Demanuele C, et al. Characterizing sleep spindles in 11,630 individuals from the National Sleep Research Resource. Nat Commun. 2017;8:15930. doi:10.1038/ncomms15930
Wang H, Nicolay BN, Chick JM, et al. The metabolic function of cyclin D3-CDK6 kinase in cancer cell survival. Nature. 2017;546(7658):426-430. doi:10.1038/nature22797
Chouraki V, Preis SR, Yang Q, et al. Association of amine biomarkers with incident dementia and Alzheimer’s disease in the Framingham Study. Alzheimers Dement. 2017;13(12):1327-1336. doi:10.1016/j.jalz.2017.04.009
Shungin D, Deng WQ, Varga TV, et al. Ranking and characterization of established BMI and lipid associated loci as candidates for gene-environment interactions. PLoS Genet. 2017;13(6):e1006812. doi:10.1371/journal.pgen.1006812