Author

Miriana Danelli

Azienda Ospedaliera Universitaria Senese

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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Approach:statistical model· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Research Focus:dimensionality reduction· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Alessandra RenieriiD· 2 shared Caterina Lo RizzoiD· 2 shared Chiara FalleriniiD· 2 shared Flavia Tinella· 2 shared Adam JacksoniD· 1 shared Alexander J. M. BlakesiD· 1 shared Alison Milhench· 1 shared Amitav Parida· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alessandra RenieriORCID

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2 papers

Recent·Most cited

Biallelic variants in RNU2-2 cause a remarkably frequent developmental epileptic encephalopathy

Adam Jackson, Alexander J. M. Blakes, Bader Alhaddad, Olivia J. Henry, Angelica Maria Delgado-Vega, Elizabeth Wall, Ola Abdelhadi, Shakti Agrawal, Khadijah Bakur, Edward Blair, Angela F. Brady, Helen K. Brittain, Kate Chandler, Natasha Clarke, Miriana Danelli, , Siddharth Banka

The paper identifies biallelic variants in RNU2-2 as a frequent cause of a severe developmental epileptic encephalopathy, distinct from a dominant disorder, and links them to reduced U2-2 abundance.

Nature Genetics · Mar 30, 2026Peer-reviewedGenetic & Genomic Medicine

Validation of the NovaSeq6000 Platform and automated library preparation for CE-IVD equivalence

Elena Pasquinelli, Giulia Rollo, Flavia Tinella, Miriana Danelli, Samantha Minetto, Giulia Casamassima, Michel Bader, Laura Calonaci, Olga Lorenza Colavecchio, Rossella Tita, Roberta Mancini, Margherita Baldassarri, Caterina Lo Rizzo, Anna Maria Pinto, Francesca Ariani, , Alessandra Renieri

The paper validates the NovaSeq6000 RUO platform with automated library preparation for clinical-grade whole-exome sequencing, showing equivalence to the CE-IVD certified system.

Computational and Structural Biotechnology Journal · Jan 1, 2025Peer-reviewedGenomics