Author

Mattia Gentile

ORCID 0000-0002-5299-6036Unclaimed 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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Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:machine learning (classical)· 1 Organism:mouse· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Emanuela PonziiD· 2 shared Romina FicarellaiD· 2 shared Aaron J. GoldenbergiD· 1 shared Aditi SatijaiD· 1 shared Alberte Lundquist· 1 shared Aldona Zygmunt· 1 shared Alessandra FerliniiD· 1 shared Alexandra Wiedemann· 1 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Emanuela PonziORCID

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2 papers

Recent·Most cited

Data-driven consideration of genetic disorders for global genomic newborn screening programs

Thomas Minten, Sarah Bick, Sophia M. Adelson, Nils Gehlenborg, Laura M. Amendola, François Boemer, Alison J. Coffey, Nicolas Encina, Alessandra Ferlini, Janbernd Kirschner, Bianca E. Russell, Laurent Servais, Kristen Lipscomb Sund, Ryan J. Taft, Petros Tsipouras, , Dominique C. Pichard

The paper develops a machine learning model to prioritize genes for newborn sequencing programs based on factors like evidence of disease natural history and treatment efficacy.

Genetics in Medicine · May 9, 2025Peer-reviewedGenetic & Genomic Medicine

Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve Split-Hand/Foot Malformation type 3

Giulia Cova, Juliane Glaser, Robert Schöpflin, Salaheddine Ali, Cesar A. Prada‐Medina, Martin Franke, Rita Falcone, Miriam Federer, Emanuela Ponzi, Romina Ficarella, Francesca Novara, Lars Wittler, Bernd Timmermann, Mattia Gentile, Orsetta Zuffardi, , Stefan Mundlos

The paper investigates how genomic rearrangements at the Lbx1/Fgf8 locus cause SHFM3 by altering chromatin structure and gene expression in mice.

bioRxiv · Feb 9, 2022 · PreprintGenetics