Author

Chiara Degli Esposti

University of Verona

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:variant calling· 2 Approach:experimental assay· 1 Assay:long-read sequencing· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Marzia RossatoiD· 2 shared Massimo DelledonneiD· 2 shared Alessandra ModiiD· 1 shared Alessandro SalviatiiD· 1 shared Annalisa BottaiD· 1 shared Barbara IadarolaiD· 1 shared Cristina Beltrami· 1 shared David CaramelliiD· 1 shared

Activity by Year

2021-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 38 mutual co-author links

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2 shared papersGenomics

Marzia RossatoORCID

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Author profile →

2 papers

Recent·Most cited

Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing

Massimiliano Alfano, Luca De Antoni, Federica Centofanti, Virginia Veronica Visconti, Simone Maestri, Chiara Degli Esposti, Roberto Massa, Maria Rosaria D’Apice, Giuseppe Novelli, Massimo Delledonne, Annalisa Botta, Marzia Rossato

This study characterizes full-length CNBP repeat expansions in DM2 patients using Cas9-mediated nanopore sequencing, revealing novel repeat patterns and mosaicism.

eLife · Aug 26, 2022Peer-reviewedGenomics

Whole-exome sequencing of the mummified remains of Cangrande della Scala (1291-1329 CE) indicates the first known case of late-onset Pompe disease

Barbara Iadarola, Denise Lavezzari, Alessandra Modi, Chiara Degli Esposti, Cristina Beltrami, Marzia Rossato, Valentina Zaro, Ettore Napione, Leonardo Latella, Martina Lari, David Caramelli, Alessandro Salviati, Massimo Delledonne

The paper performs whole-exome sequencing on mummified remains to identify a genetic mutation associated with late-onset Pompe disease in a historical figure.

Scientific Reports · Oct 26, 2021Peer-reviewedGenetic & Genomic Medicine