Author

Daniela Pirri

Imperial College LondonORCID 0000-0002-7051-4176Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Cell Biology· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:Bayesian inference· 1 Research Focus:cell signaling & trafficking· 1 Approach:experimental assay· 1 Research Focus:GWAS / association mapping· 1 Assay:proteomics· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Graeme M. BirdseyiD· 2 shared A. K. C. Li· 1 shared Adela Constantinescu‐BercuiD· 1 shared Alessia Nastro· 1 shared Andrew David MumfordiD· 1 shared ANNA MARIA RANDIiD· 1 shared Arnaud P. J. GieseiD· 1 shared Bart LoeysiD· 1 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersCell Biology

Graeme M. BirdseyORCID

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2 papers

Recent·Most cited

Cell BiologybioRxivPreprintSep 9, 2025

Von Willebrand Factor Deficiency Impairs Vascular Morphogenesis via Angiopoietin-2: Relevance for Gut Angiodysplasia

Adela Constantinescu‐Bercu, Koval E. Smith, Shuo Yi Wong…·ANNA MARIA RANDI

This study shows that VWF deficiency increases Angpt-2 expression via the Tie2-Akt-FOXO1 pathway, leading to vascular defects in the gut and suggesting Angpt-2 inhibitors could treat VWD-related bleeding.

1 citation

humanproteomics

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Genetic & Genomic MedicineNature MedicinePeer-reviewedMar 1, 2023

Genetic association analysis of 269 rare diseases reveals novel aetiologies

Daniel J. Greene, Daniela Pirri, Karen Frudd…·Ernest Turro

This study uses a computational framework to analyze genetic data from 77,539 genomes, identifying 21 novel genetic associations with 269 rare diseases.

80 citationstop 1%

humanwhole-exome sequencing

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