Author

Arun John Baksi

Harefield HospitalORCID 0000-0001-5492-1743Unclaimed 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 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Antonio de MarvaoiD· 2 shared Antonis A. PantazisiD· 2 shared Ben K. StattoniD· 2 shared Declan P. O’ReganiD· 2 shared Francesco MazzarottoiD· 2 shared James S. WareiD· 2 shared Kathryn A. McGurkiD· 2 shared Paul J.R. BartoniD· 2 shared

Activity by Year

2021-2021 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Antonio de MarvaoORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineJournal of the American College of CardiologyPeer-reviewedSep 1, 2021

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

Antonio de Marvao, Kathryn A. McGurk, Sean Lee Zheng…·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.

125 citationstop 1%

humanwhole-exome sequencing

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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

𝕏 PostBluesky