Author

Diana Baralle

h-index 4 View on Semantic Scholar

We have 3 of 10 papers

We haven’t gathered this author’s papers yet. Follow them and we’ll fetch their work.

Not the right person? Other researchers publish under this name.

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. · BMC Infectious Diseases · 0 citations

Open access Sep 2026

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

Despite the introduction of genome sequencing (GS) for rare disease diagnostics, a genetic cause is not identified in most patients. Here, we explored the potential of proteomics to improve the diagnostic yield in 424 patients with rare diseases from the 100,000 Genomes Project (100kGP) without a genetic diagnosis. Ser...

J. Carrasco-Zanini, J. Andrade, M. Pietzner et al. · Science Translational Medici... · 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. · American Journal of Human Ge... · 0 citations