Author

Isabella Mengarelli

Amsterdam University Medical Centers

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:differential expression· 2 Assay:whole-genome sequencing· 2 Assay:bulk RNA-seq· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:mouse· 1

Frequent Co-Authors

Arthur A.M. WildeiD· 3 shared Connie R. BezzinaiD· 3 shared Fernanda M. BosadaiD· 3 shared Leander BeekmaniD· 3 shared Ahmad S. AminiD· 2 shared Andrew A. GraceiD· 2 shared Apichai KhongphatthanayothiniD· 2 shared Arie O. VerkerkiD· 2 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Arthur A.M. WildeORCID

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3 papers

Recent·Most cited

Whole-genome sequencing implicates rare, low-frequency and structural non-coding variation at the SCN5A locus in Brugada syndrome

Alex Lipov, Manon Baudic, Pierre Lindenbaum, Isabella Mengarelli, Matthew J. O’Neill, Fernanda M. Bosada, Yanushi Dullewe Wijeyeratne, Luis de la Higuera Romero, Maarten Kooyman, Marion Gaudin, Graziella Aquilina, Leander Beekman, Estelle Baron, Mathilde Bertrand, Zoya Kingsbury, , Connie R. Bezzina

This study identifies rare and low-frequency non-coding variants at the SCN5A locus associated with Brugada syndrome using whole-genome sequencing and functional assays.

medRxiv · Jul 10, 2026 · PreprintGenetic & Genomic Medicine

The Brugada syndrome associated gene WT1 impacts on SCN5A expression and cardiac conduction

E. Madelief Marsman, Joost Allard Offerhaus, Thomas Stervinou, Isabella Mengarelli, Leander Beekman, Lisanne M.W. Wilde, Simona Casini, T J Streef, Maurice J.B. van den Hoff, Marie‐José Goumans, Arie O. Verkerk, Sean Joseph Jurgens, Arthur A.M. Wilde, Guillaume Lamirault, Nathalie Gaborit, , Fernanda M. Bosada

This study shows WT1 regulates SCN5A expression and cardiac conduction in Brugada syndrome through a regulatory element in the RV.

bioRxiv · Jan 16, 2025 · PreprintGenetics

A rare non-coding enhancer variant in SCN5A contributes to the high prevalence of Brugada syndrome in Thailand

Roddy Walsh, John Mauleekoonphairoj, Isabella Mengarelli, Arie O. Verkerk, Fernanda M. Bosada, Karel van Duijvenboden, Yong Poovorawan, Wanwarang Wongcharoen, Boosamas Sutjaporn, Pharawee Wandee, Nitinan Chimparlee, Ronpichai Chokesuwattanaskul, Kornkiat Vongpaisarnsin, Piyawan Dangkao, Cheng‐I Wu, , Apichai Khongphatthanayothin

The paper identifies a rare non-coding enhancer variant in SCN5A associated with Brugada syndrome in Thailand, showing it disrupts a transcription factor binding site and reduces sodium current.

Circulation · Oct 11, 2024Peer-reviewedGenetic & Genomic Medicine