Author

Massimo Carella

Casa Sollievo della SofferenzaORCID 0000-0002-6830-6829Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Approach:machine learning (classical)· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Agnese GiovannettiiD· 1 shared Alessandro NapoliiD· 1 shared Alessandro VitrioloiD· 1 shared Angelo Luigi VescoviiD· 1 shared Catherine B. MillariD· 1 shared Celeste Franconi· 1 shared Connie T.R.M. Schrander-Stumpel· 1 shared Daniele CapocefaloiD· 1 shared

Activity by Year

2021-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperBioinformatics

Agnese GiovannettiORCID

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2 papers

Recent·Most cited

APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variants

Salvatore Daniele Bianco, Luca Parca, Francesco Petrizzelli, Tommaso Biagini, Agnese Giovannetti, Niccolò Liorni, Alessandro Napoli, Massimo Carella, Vincent Procaccio, Marie T. Lott, Shiping Zhang, Angelo Luigi Vescovi, Douglas C. Wallace, Viviana Caputo, Tommaso Mazza

APOGEE 2 improves pathogenicity prediction for mitochondrial missense variants using a machine learning model based on ACMG/AMP guidelines and provides region-wise genome fragility assessments.

Nature Communications · Aug 19, 2023Peer-reviewedBioinformatics

KMT2D haploinsufficiency in Kabuki Syndrome disrupts neuronal function through transcriptional and chromatin rewiring independent of H3K4-monomethylation

Michele Gabriele, Alessandro Vitriolo, Sara Cuvertino, Marlene F. Pereira, Celeste Franconi, Pierre‐Luc Germain, Daniele Capocefalo, Davide Castaldi, Erika Tenderini, Nicholas Burdon Bèchet, Catherine B. Millar, Tom S. Koemans, Nitin Sabherwal, Connie T.R.M. Schrander-Stumpel, Monica Frega, , Giuseppe Testa

This study investigates how KMT2D mutations in Kabuki Syndrome disrupt neuronal function through chromatin and transcriptional changes, independent of H3K4me1.

bioRxiv · Apr 22, 2021 · PreprintGenetics