Author

Alessia Nasca

Fondazione IRCCS Istituto Neurologico Carlo BestaORCID 0000-0002-0640-9929Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:gene regulatory network inference· 1 Assay:proteomics· 1 Assay:scRNA-seq· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Daniele GhezziiD· 2 shared Abdelhamid Slama· 1 shared Agnès RötigiD· 1 shared Agnieszka NadeliD· 1 shared Akira OhtakeiD· 1 shared Andrea LegatiiD· 1 shared Chen MengiD· 1 shared Christian MertesiD· 1 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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Focal author (center)Selected co-authorORCID co-authorUnlinked name

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2 shared papersGenetic & Genomic Medicine

Daniele GhezziORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Exploring Heteroplasmic Variants in mtDNA: Insights from Single-Cell Transcriptomics

Marco Barresi, Ivano Di Meo, Alessia Nasca, Eleonora Lamantea, Andrea Legati, Daniele Ghezzi

This study uses single-cell RNA sequencing to analyze mtDNA heteroplasmy in fibroblasts, revealing cell-to-cell variability and sample-specific transcriptional responses.

Cells · Aug 3, 2026Peer-reviewedGenetic & Genomic Medicine

Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders

Robert Kopajtich, Dmitrii Smirnov, Sarah L. Stenton, Stefan Loipfinger, Chen Meng, Ines F. Scheller, Peter Freisinger, Robert Baski, Riccardo Berutti, Jürgen Behr, Martina Bucher, Felix Distelmaier, Elisabeth Graf, Mirjana Gušić, Maja Hempel, , Holger Prokisch

Adding tandem mass tag proteomics to genome and transcriptome data resolved 22% of 121 unsolved suspected mitochondrial disease cases and surfaced two new disease genes.

medRxiv · Mar 9, 2021 · PreprintGenetic & Genomic Medicine