Deuis JR, Kumble S, Keramidas A, et al. Erythromelalgia caused by the missense mutation p.Arg220Pro in an alternatively spliced exon of SCN9A (NaV1.7). Human molecular genetics. 2023. doi:10.1093/hmg/ddad152
Publications
Griffith AL, Zheng F, McGee A V, et al. Optimization of Cas12a for multiplexed genome-scale transcriptional activation. Cell genomics. 2023;3(9):100387. doi:10.1016/j.xgen.2023.100387
Lawson J, Ghanaim EM, Baek J, Lee H, Rehm HL. Aligning NIH’s existing data use restrictions to the GA4GH DUO standard. Cell genomics. 2023;3(9):100381. doi:10.1016/j.xgen.2023.100381
Kamphuis P, van Zeventer IA, de Graaf AO, et al. Clonal Hematopoiesis Defined by Somatic Mutations Infrequently Co-occurs With Mosaic Loss of the Y Chromosome in a Population-based Cohort. HemaSphere. 2023;7(10):e956. doi:10.1097/HS9.0000000000000956
Kamphuis P, van Zeventer IA, de Graaf AO, et al. Clonal Hematopoiesis Defined by Somatic Mutations Infrequently Co-occurs With Mosaic Loss of the Y Chromosome in a Population-based Cohort. HemaSphere. 2023;7(10):e956. doi:10.1097/HS9.0000000000000956
Parsons HA, Blewett T, Chu X, et al. Circulating tumor DNA association with residual cancer burden after neoadjuvant chemotherapy in triple-negative breast cancer in TBCRC 030. Annals of oncology : official journal of the European Society for Medical Oncology. 2023. doi:10.1016/j.annonc.2023.08.004
Rosen DB, Ghosh A, Niemierko A, et al. Clinical outcomes of de novo versus relapsed early metastatic testicular seminoma treated with contemporary radiation therapy. International journal of radiation oncology, biology, physics. 2023. doi:10.1016/j.ijrobp.2023.09.010
Worby CJ, Sridhar S, Turbett SE, et al. Gut microbiome perturbation, antibiotic resistance, and Escherichia coli strain dynamics associated with international travel: a metagenomic analysis. The Lancet. Microbe. 2023. doi:10.1016/S2666-5247(23)00147-7
Rios S, GarcÃa-Gavilán JF, Babio N, et al. Plasma metabolite profiles associated with the World Cancer Research Fund/American Institute for Cancer Research lifestyle score and future risk of cardiovascular disease and type 2 diabetes. Cardiovascular diabetology. 2023;22(1):252. doi:10.1186/s12933-023-01912-6
Wang F, Tessier AJ, Liang L, et al. Plasma metabolomic profiles associated with mortality and longevity in a prospective analysis of 13,512 individuals. Nature communications. 2023;14(1):5744. doi:10.1038/s41467-023-41515-z