Ghosh R, Harrison SM, Rehm HL, Plon SE, Biesecker LG, ClinGen Sequence Variant Interpretation Working Group. Updated recommendation for the benign stand-alone ACMG/AMP criterion. Hum Mutat. 2018;39(11):1525-1530. doi:10.1002/humu.23642
Publications
Oza AM, DiStefano MT, Hemphill SE, et al. Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. Hum Mutat. 2018;39(11):1593-1613. doi:10.1002/humu.23630
Rivera-Munoz EA, Milko LV, Harrison SM, et al. ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation. Hum Mutat. 2018;39(11):1614-1622. doi:10.1002/humu.23645
Raj T, Li YI, Wong G, et al. Integrative transcriptome analyses of the aging brain implicate altered splicing in Alzheimer’s disease susceptibility. Nat Genet. 2018;50(11):1584-1592. doi:10.1038/s41588-018-0238-1
Mahajan A, Taliun D, Thurner M, et al. Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps. Nat Genet. 2018;50(11):1505-1513. doi:10.1038/s41588-018-0241-6
Lavoie S, Garrett WS. The Unfolding Story of ATF6, Microbial Dysbiosis, and Colorectal Cancer. Gastroenterology. 2018;155(5):1309-1311. doi:10.1053/j.gastro.2018.10.011
Wallrapp A, Riesenfeld SJ, Burkett PR, Kuchroo VK. Type 2 innate lymphoid cells in the induction and resolution of tissue inflammation. Immunol Rev. 2018;286(1):53-73. doi:10.1111/imr.12702
Hamada T, Zhang X, Mima K, et al. in Colorectal Cancer Relates to Immune Response Differentially by Tumor Microsatellite Instability Status. Cancer Immunol Res. 2018;6(11):1327-1336. doi:10.1158/2326-6066.CIR-18-0174
Iqbal NS, Jascur TA, Harrison S, et al. Copy number variations in a population with prune belly syndrome. Am J Med Genet A. 2018;176(11):2276-2283. doi:10.1002/ajmg.a.40476
Munschauer M, Nguyen CT, Sirokman K, et al. Publisher Correction: The NORAD lncRNA assembles a topoisomerase complex critical for genome stability. Nature. 2018;563(7733):E32. doi:10.1038/s41586-018-0584-2