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Publications

Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.

Nicastro M, Vermeer AMC, Postema PG, et al. Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy. American journal of human genetics. 2025;112(7):1681-1698. doi:10.1016/j.ajhg.2025.04.016

Determinants and clinical impact of time to plasma exchange in patients with immune thrombotic thrombocytopenic purpura.

Tatake IJ, Wilkinson SC, Ruby KN, et al. Determinants and clinical impact of time to plasma exchange in patients with immune thrombotic thrombocytopenic purpura. Transfusion. 2025;65(7):1242-1250. doi:10.1111/trf.18291

Spatial multiomics decipher fibroblast-macrophage dynamics in systemic sclerosis.

Li Z, Rigau AR, Xie W, et al. Spatial multiomics decipher fibroblast-macrophage dynamics in systemic sclerosis. Annals of the rheumatic diseases. 2025;84(7):1231-1245. doi:10.1016/j.ard.2025.04.025

CD4+ tissue-resident memory Th17 cells are a major source of IL-17A in Spondyloarthritis synovial tissue.

Liu F, Shi H, Turner JD, et al. CD4+ tissue-resident memory Th17 cells are a major source of IL-17A in Spondyloarthritis synovial tissue. Annals of the rheumatic diseases. 2025;84(7):1151-1163. doi:10.1016/j.ard.2025.04.018

Early establishment and life course stability of sex biases in the human brain transcriptome.

Benoit-Pilven C, Asteljoki J V, Leinonen JT, Karjalainen J, Daly MJ, Tukiainen T. Early establishment and life course stability of sex biases in the human brain transcriptome. Cell genomics. 2025;5(7):100890. doi:10.1016/j.xgen.2025.100890

Determinants and clinical impact of time to plasma exchange in patients with immune thrombotic thrombocytopenic purpura.

Tatake IJ, Wilkinson SC, Ruby KN, et al. Determinants and clinical impact of time to plasma exchange in patients with immune thrombotic thrombocytopenic purpura. Transfusion. 2025;65(7):1242-1250. doi:10.1111/trf.18291

Early establishment and life course stability of sex biases in the human brain transcriptome.

Benoit-Pilven C, Asteljoki J V, Leinonen JT, Karjalainen J, Daly MJ, Tukiainen T. Early establishment and life course stability of sex biases in the human brain transcriptome. Cell genomics. 2025;5(7):100890. doi:10.1016/j.xgen.2025.100890

Trinucleotide substrates under pH-freeze-thaw cycles enable open-ended exponential RNA replication by a polymerase ribozyme.

Attwater J, Augustin TL, Curran JF, et al. Trinucleotide substrates under pH-freeze-thaw cycles enable open-ended exponential RNA replication by a polymerase ribozyme. Nature chemistry. 2025;17(7):1129-1137. doi:10.1038/s41557-025-01830-y

Trinucleotide substrates under pH-freeze-thaw cycles enable open-ended exponential RNA replication by a polymerase ribozyme.

Attwater J, Augustin TL, Curran JF, et al. Trinucleotide substrates under pH-freeze-thaw cycles enable open-ended exponential RNA replication by a polymerase ribozyme. Nature chemistry. 2025;17(7):1129-1137. doi:10.1038/s41557-025-01830-y

Pooled analysis of 3,741 stool metagenomes from 18 cohorts for cross-stage and strain-level reproducible microbial biomarkers of colorectal cancer.

Piccinno G, Thompson KN, Manghi P, et al. Pooled analysis of 3,741 stool metagenomes from 18 cohorts for cross-stage and strain-level reproducible microbial biomarkers of colorectal cancer. Nature medicine. 2025;31(7):2416-2429. doi:10.1038/s41591-025-03693-9