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Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.

Sandaradura SA, Bournazos A, Mallawaarachchi A, et al. Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant. Hum Mutat. 2018;39(3):383-388. doi:10.1002/humu.23385

Treatment of autosomal dominant hearing loss by in vivo delivery of genome editing agents.

Gao X, Tao Y, Lamas V, et al. Treatment of autosomal dominant hearing loss by in vivo delivery of genome editing agents. Nature. 2018;553(7687):217-221. doi:10.1038/nature25164

Genetic Architecture of the Cardiovascular Risk Proteome.

Benson MD, Yang Q, Ngo D, et al. Genetic Architecture of the Cardiovascular Risk Proteome. Circulation. 2018;137(11):1158-1172. doi:10.1161/CIRCULATIONAHA.117.029536

Developmental timing of trauma exposure and emotion dysregulation in adulthood: Are there sensitive periods when trauma is most harmful?

Dunn EC, Nishimi K, Gomez SH, Powers A, Bradley B. Developmental timing of trauma exposure and emotion dysregulation in adulthood: Are there sensitive periods when trauma is most harmful? J Affect Disord. 2018;227:869-877. doi:10.1016/j.jad.2017.10.045

Association of Nonalcoholic Fatty Liver Disease With Lower Brain Volume in Healthy Middle-aged Adults in the Framingham Study.

Weinstein G, Zelber-Sagi S, Preis SR, et al. Association of Nonalcoholic Fatty Liver Disease With Lower Brain Volume in Healthy Middle-aged Adults in the Framingham Study. JAMA Neurol. 2018;75(1):97-104. doi:10.1001/jamaneurol.2017.3229

GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk.

Pirastu N, Joshi PK, de Vries PS, et al. GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk. Nat Commun. 2017;8(1):1584. doi:10.1038/s41467-017-01490-8

Transcriptional signature of human pro-inflammatory T17 cells identifies reduced IL10 gene expression in multiple sclerosis.

Hu D, Notarbartolo S, Croonenborghs T, et al. Transcriptional signature of human pro-inflammatory T17 cells identifies reduced IL10 gene expression in multiple sclerosis. Nat Commun. 2017;8(1):1600. doi:10.1038/s41467-017-01571-8

Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.

Johnson K, Topf A, Bertoli M, et al. Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness. Orphanet J Rare Dis. 2017;12(1):173. doi:10.1186/s13023-017-0722-1

A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population.

Perić S, Glumac JN, Topf A, et al. A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population. Eur J Hum Genet. 2017;25(5):572-581. doi:10.1038/ejhg.2017.16

A novel controlled release formulation of the Pin1 inhibitor ATRA to improve liver cancer therapy by simultaneously blocking multiple cancer pathways.

Yang D, Luo W, Wang J, et al. A novel controlled release formulation of the Pin1 inhibitor ATRA to improve liver cancer therapy by simultaneously blocking multiple cancer pathways. J Control Release. 2018;269:405-422. doi:10.1016/j.jconrel.2017.11.031