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Author

Diana Baralle

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Open access Oct 2026

Immune transcriptomic differences in paediatric patients with SARS-CoV-2 compared to other lower respiratory tract infections

The clinical severity of SARS-CoV-2 infection in children varies, with asymptomatic or mild illness predominating and a minority developing severe disease. However, studies of the transcriptional responses to SARS-CoV-2 infection in children are limited. Understanding the immunological responses that underlie sev...

N. Kitaba, L. Workman, C. Cohen et al. · 0 citations
Open access Sep 2026

Proteomics identify disease-associated variants in patients with rare diseases undiagnosed after genome sequencing.

It is demonstrated that serum proteomics can support rare disease diagnosis and identify disease-causing genes in patients undiagnosed after GS, although successful implementation will likely depend on tissue specificity of protein expression, detectability in blood, proteomic platform coverage, and sensitivity.

J. Carrasco-Zanini, J. Andrade, M. Pietzner et al. · 0 citations
Aug 2026

RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium.

The Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) research consortium conducted a comprehensive study to characterize spliceogenic variants in BRCA1 exon 18, indicating the degree of splice perturbation required to impair BRCA1 function may depend on the nature of the resulting non-f...

Joanna Domènech-Vivó, Hélène Tubeuf, Romy L. S. Mesman et al. · 0 citations

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