Author

Marzia De Bortoli

Eurac ResearchORCID 0000-0002-1348-1304Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Approach:Bayesian inference· 1 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Assay:electronic health records· 1 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1

Frequent Co-Authors

Alessandra RossiniiD· 2 shared Alexander TeumeriD· 2 shared Christian FuchsbergeriD· 2 shared Cristian PattaroiD· 2 shared Marcus DörriD· 2 shared Martin GögeleiD· 2 shared Peter Paul PramstalleriD· 2 shared Uwe VölkeriD· 2 shared

Activity by Year

2019-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alessandra RossiniORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineHuman GeneticsPeer-reviewedJul 30, 2025

Genomic and molecular evidence that the lncRNA DSP-AS1 modulates Desmoplakin expression

Luisa Foco, Marzia De Bortoli, Fabiola Del Greco M…·Cristian Pattaro

The paper identifies a variant in DSP associated with QRS interval and shows that DSP-AS1 regulates DSP expression through functional and Mendelian randomization analyses.

2 citations

humanbulk RNA-seq

GeneticsbioRxivPreprintJun 18, 2019

KCND3 is a novel susceptibility locus for early repolarization

Alexander Teumer, Teresa Trenkwalder, Thorsten Kessler…·Wibke Reinhard

This study identifies a genome-wide significant association between a variant in the KCND3 gene and early repolarization pattern on ECG, suggesting a genetic basis for this trait.

1 citation

humanelectronic health records