Author

Marco Seri

IRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'OrsolaORCID 0000-0003-2425-2176Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 2 Bioinformatics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Approach:experimental assay· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Research Focus:GWAS / association mapping· 1 Organism:human· 1 Organism:mouse· 1

Frequent Co-Authors

Tommaso PippucciiD· 2 shared Agnese Verzuri· 1 shared Agostino OgnibeneiD· 1 shared Agostino RivaiD· 1 shared Alessandra VergoriiD· 1 shared Alessandro BrusellesiD· 1 shared Alfonso TrezzaiD· 1 shared Alfredo BruscoiD· 1 shared

Activity by Year

2020-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

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

Curved chords = mutual co-authorship

2 shared papersBioinformatics

Tommaso PippucciORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Monoallelic de novo variants in DDX17 cause a novel neurodevelopmental disorder

Eleanor G. Seaby, Annie Godwin, Valentine Clerc, Géraldine Meyer-Dilhet, Xavier Grand, Tia Fletcher, Laloé Monteiro, Valério Carelli, Flavia Palombo, Marco Seri, Giulia Olivucci, Mina Grippa, Claudia Ciaccio, Stefano D’Arrigo, Maria Rosaria Iascone, , Sarah Ennis

The paper identifies de novo monoallelic DDX17 variants in 11 patients with neurodevelopmental disorders and shows DDX17 dysfunction causes neuronal migration and axon outgrowth defects in multiple models.

medRxiv · Oct 11, 2023 · PreprintGenetic & Genomic Medicine

unCOVERApp: an interactive graphical application for clinical assessment of sequence coverage at the base-pair level

Emanuela Iovino, Marco Seri, Tommaso Pippucci

unCOVERApp provides tools to assess and annotate low-coverage regions in NGS data to improve diagnostic accuracy by identifying clinically relevant variants.

Bioinformatics · Aug 12, 2020Peer-reviewedBioinformatics

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

Elisa Benetti, Rossella Tita, Ottavia Spiga, Andrea Ciolfi, Giovanni Birolo, Alessandro Bruselles, Gabriella Doddato, Annarita Giliberti, Caterina Marconi, Francesco Musacchia, Tommaso Pippucci, Annalaura Torella, Alfonso Trezza, Floriana Valentino, Margherita Baldassarri, , Carmelo Piscopo

The paper identifies ACE2 gene variants associated with interindividual variability in COVID-19 susceptibility in the Italian population using whole-exome-sequencing data.

European Journal of Human Genetics · Jul 17, 2020Peer-reviewedGenetic & Genomic Medicine