Publications

Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia.

Alver M, Palover M, Saar A, et al. Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia. Genet Med. 2018. doi:10.1038/s41436-018-0311-2.

Efficient Gene Transfer to the Central Nervous System by Single-Stranded Anc80L65.

Hudry E, Andres-Mateos E, Lerner EP, et al. Efficient Gene Transfer to the Central Nervous System by Single-Stranded Anc80L65. Mol Ther Methods Clin Dev. 2018;10:197-209. doi:10.1016/j.omtm.2018.07.006.

Mutational processes shape the landscape of TP53 mutations in human cancer.

Giacomelli AO, Yang X, Lintner RE, et al. Mutational processes shape the landscape of TP53 mutations in human cancer. Nat Genet. 2018. doi:10.1038/s41588-018-0204-y.

Author Correction: Red fox genome assembly identifies genomic regions associated with tame and aggressive behaviours.

Kukekova AV, Johnson JL, Xiang X, et al. Author Correction: Red fox genome assembly identifies genomic regions associated with tame and aggressive behaviours. Nat Ecol Evol. 2018;2(9):1514. doi:10.1038/s41559-018-0664-6.

Evaluation of TDP-43 proteinopathy and hippocampal sclerosis in relation to APOE ε4 haplotype status: a community-based cohort study.

Yang H-S, Yu L, White CC, et al. Evaluation of TDP-43 proteinopathy and hippocampal sclerosis in relation to APOE ε4 haplotype status: a community-based cohort study. Lancet Neurol. 2018;17(9):773-781. doi:10.1016/S1474-4422(18)30251-5.

Red fox genome assembly identifies genomic regions associated with tame and aggressive behaviours.

Kukekova AV, Johnson JL, Xiang X, et al. Red fox genome assembly identifies genomic regions associated with tame and aggressive behaviours. Nat Ecol Evol. 2018;2(9):1479-1491. doi:10.1038/s41559-018-0611-6.

Genomic correlates of response to immune checkpoint blockade in microsatellite-stable solid tumors.

Miao D, Margolis CA, Vokes NI, et al. Genomic correlates of response to immune checkpoint blockade in microsatellite-stable solid tumors. Nat Genet. 2018;50(9):1271-1281. doi:10.1038/s41588-018-0200-2.

The NORAD lncRNA assembles a topoisomerase complex critical for genome stability.

Munschauer M, Nguyen CT, Sirokman K, et al. The NORAD lncRNA assembles a topoisomerase complex critical for genome stability. Nature. 2018;561(7721):132-136. doi:10.1038/s41586-018-0453-z.

Publisher Correction: Gene regulation: c-Maf in CD4 T cells: it's all about context.

W Haining N, Weiss SA. Publisher Correction: Gene regulation: c-Maf in CD4 T cells: it's all about context. Nat Immunol. 2018. doi:10.1038/s41590-018-0204-1.

Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.

van der Ven AT, Connaughton DM, Ityel H, et al. Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract. J Am Soc Nephrol. 2018. doi:10.1681/ASN.2017121265.