Author

Nicoló Savioli

Hammersmith HospitalORCID 0000-0002-3382-0422Unclaimed 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· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alaine BerryiD· 1 shared Antonio de MarvaoiD· 1 shared Antonis A. PantazisiD· 1 shared Arun John BaksiiD· 1 shared Ben K. StattoniD· 1 shared Brian P. HallidayiD· 1 shared Carlo BiffiiD· 1 shared Carolyn Yung HoiD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alaine BerryORCID

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1 paper

Recent·Most cited

Outcomes and phenotypic expression of rare variants in hypertrophic cardiomyopathy genes amongst UK Biobank participants

Antonio de Marvao, Kathryn A. McGurk, Sean Lee Zheng, Marjola Thanaj, Wenjia Bai, Jinming Duan, Carlo Biffi, Francesco Mazzarotto, Ben K. Statton, Timothy J. W. Dawes, Nicoló Savioli, Brian P. Halliday, Xiao Yun Xu, Rachel J. Buchan, Arun John Baksi, , Declan P. O’Regan

This study examines the clinical impact of rare variants in HCM-associated genes in the UK Biobank, finding that pathogenic variants are linked to increased cardiovascular risk and subclinical phenotypes, while non-pathogenic variants show minimal effect.

Journal of the American College of Cardiology · Sep 1, 2021Peer-reviewedGenetic & Genomic Medicine