Author

Pamela Magini

IRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'OrsolaORCID 0000-0002-1752-9977Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genomics· 2

Signature Assays, Organisms & Methods

Click to filter · or open tag

Approach:experimental assay· 2 Organism:human· 1 Organism:mouse· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alberto Fernández‐JaéniD· 1 shared Alberto MagiiD· 1 shared Alessandra MingrinoiD· 1 shared Anna Maria Nardone· 1 shared Barbara GegaiD· 1 shared Benedikt HallgrímssoniD· 1 shared Claudio GrazianoiD· 1 shared Davide BologniniiD· 1 shared

Activity by Year

2021-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 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

1 shared paperGenomics

Alberto Fernández‐JaénORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Third Generation Cytogenetic Analysis (TGCA): diagnostic application of long-read sequencing.

Pamela Magini, Alessandra Mingrino, Barbara Gega, Gianluca Mattei, Roberto Semeraro, Davide Bolognini, Patrizia Mongelli, Laura Desiderio, Maria Carla Pittalis, Tommaso Pippucci, Alberto Magi

This study demonstrates that long-read sequencing using Oxford Nanopore Technologies can rapidly and accurately detect pathogenic unbalanced structural variants with resolution comparable to traditional methods.

Journal of Molecular Diagnostics · May 5, 2022Peer-reviewedGenomics

HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations

Naama Hirsch, Idit Dahan, Eva D’haene, Matan Avni, Sarah Vergult, Marta Vidal‐García, Pamela Magini, Claudio Graziano, Giulia Severi, Elena Bonora, Anna Maria Nardone, Francesco Brancati, Alberto Fernández‐Jaén, Olson J. Rory, Benedikt Hallgrímsson, Ramon Y. Birnbaum

The paper identifies structural variants in HDAC9 that disrupt TWIST1 regulatory elements, causing craniofacial and limb malformations through altered transcriptional regulation.

bioRxiv · Aug 10, 2021 · PreprintGenomics