Author

Francesca Girolami

Meyer Children's HospitalORCID 0000-0001-9143-3597Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Assay:GWAS summary statistics· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Iacopo OlivottoiD· 2 shared James S. WareiD· 2 shared Kathryn A. McGurkiD· 2 shared Adam S. HelmsiD· 1 shared Alessia Argiro· 1 shared Alexandra ButtersiD· 1 shared Alexandre C Pereira· 1 shared Amy BakeriD· 1 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Iacopo OlivottoORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineHeart Lung and CirculationPeer-reviewedJul 30, 2026

Reclassification of Genetic Variants in Patients with Hypertrophic Cardiomyopathy from the Sarcomeric Human Cardiomyopathy Registry (SHaRe)

Sophie Hespe, G. Powell, Laura Catto…·Jodie Ingles

The paper reclassifies genetic variants in HCM patients using a large registry, finding 10% of variants were reclassified, with most VUS unlikely to be causal.

DOI 10.1016/j.hlc.2026.07.007

humanGWAS summary statistics

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Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedJan 26, 2021

The genetic architecture of left ventricular non-compaction reveals both substantial overlap with other cardiomyopathies and a distinct aetiology in a subset of cases

Francesco Mazzarotto, Megan H. Hawley, Matteo Beltrami…·Roddy Walsh

This study identifies genetic overlaps and distinct variant classes in LVNC compared to DCM and HCM, revealing both shared and unique genetic mechanisms.

85 citationstop 1%

humanwhole-exome sequencing

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