Publications

eQTL Catalogue 2023: New datasets, X chromosome QTLs, and improved detection and visualisation of transcript-level QTLs.

Kerimov N, Tambets R, Hayhurst JD, et al. eQTL Catalogue 2023: New datasets, X chromosome QTLs, and improved detection and visualisation of transcript-level QTLs. PLoS genetics. 2023;19(9):e1010932. doi:10.1371/journal.pgen.1010932

Vagus Nerve Stimulation and Inflammation in Cardiovascular Disease: A State-of-the-Art Review.

Bazoukis G, Stavrakis S, Armoundas AA. Vagus Nerve Stimulation and Inflammation in Cardiovascular Disease: A State-of-the-Art Review. Journal of the American Heart Association. 2023:e030539. doi:10.1161/JAHA.123.030539

Erythromelalgia caused by the missense mutation p.Arg220Pro in an alternatively spliced exon of SCN9A (NaV1.7).

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

Optimization of Cas12a for multiplexed genome-scale transcriptional activation.

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

Aligning NIH's existing data use restrictions to the GA4GH DUO standard.

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

Clonal Hematopoiesis Defined by Somatic Mutations Infrequently Co-occurs With Mosaic Loss of the Y Chromosome in a Population-based Cohort.

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

Clonal Hematopoiesis Defined by Somatic Mutations Infrequently Co-occurs With Mosaic Loss of the Y Chromosome in a Population-based Cohort.

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

Circulating tumor DNA association with residual cancer burden after neoadjuvant chemotherapy in triple-negative breast cancer in TBCRC 030.

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

Clinical outcomes of de novo versus relapsed early metastatic testicular seminoma treated with contemporary radiation therapy.

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

Gut microbiome perturbation, antibiotic resistance, and Escherichia coli strain dynamics associated with international travel: a metagenomic analysis.

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

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Publications

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