Author

Lorenzo Maggi

Fondazione IRCCS Istituto Neurologico Carlo BestaORCID 0000-0002-0932-5173Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Approach:experimental assay· 2 Research Focus:gene regulatory network inference· 2 Organism:human· 2 Research Focus:cell type annotation· 1 Research Focus:cell-cell communication· 1 Assay:DNA methylation· 1 Assay:long-read sequencing· 1

Frequent Co-Authors

Graziano PesoleiD· 2 shared Rossella Ginevra TupleriD· 2 shared Sara PiniiD· 2 shared Valentina SalsiiD· 2 shared Anthony K. HenrasiD· 1 shared Brian McStayiD· 1 shared Bruno FossoiD· 1 shared Carmelo RodolicoiD· 1 shared

Activity by Year

2023-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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2 shared papersMolecular Biology

Graziano PesoleORCID

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2 papers

Recent·Most cited

Molecular BiologybioRxivPreprintJun 29, 2024

A novel family of lncRNAs relate facioscapulohumeral muscular dystrophy to nucleolar architecture and protein synthesis

Valentina Salsi, Francesca Losi, Bruno Fosso…·Rossella Ginevra Tupler

This study identifies a family of lncRNAs, including FRG2A, whose overexpression in FSHD patients disrupts nucleolar architecture and reduces protein synthesis, linking FSHD to muscle wasting.

DOI 10.1101/2024.06.29.600824

humanlong-read sequencing

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Genetic & Genomic MedicinemedRxivPreprintJun 13, 2023

A human pan-genomic analysis reconfigures the genetic and epigenetic make up of facioscapulohumeral muscular dystrophy

Valentina Salsi, Matteo Chiara, Sara Pini…·Rossella Ginevra Tupler

This study uses pan-genomic data to analyze D4Z4 repeats and CpG methylation in FSHD, finding low methylation correlates with SMCHD1 variants but not clinical phenotypes.

6 citations

humanDNA methylation

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