Enrico Bugiardini
19PUBLICATIONS
143CO-AUTHORS
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Publications (19)
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|Mar 26, 2025
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing.Wouter Steyaert, Lydia Sagath, German Demidov
|Oct 17, 2024
Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.Andrea Cortese, Sarah J Beecroft, Stefano Facchini
|Jul 27, 2024
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.Andrea Cortese, Sarah J Beecroft, Stefano Facchini
|May 15, 2024
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.Wouter Steyaert, Lydia Sagath, German Demidov
|Nov 25, 2023
Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges.Stephanie Efthymiou, Richard J L F Lemmers, Venugopalan Y Vishnu
|Oct 28, 2023
Optical Genome Mapping Enables Detection and Accurate Sizing of <i>RFC1</i> Repeat Expansions.Stefano Facchini, Natalia Dominik, Arianna Manini
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Frequent Collaborators
7 joint publications
Robert D S Pitceathly
6 joint publications
Henry Houlden
3 joint publications
Gianina Ravenscroft
3 joint publications
Marco Savarese
3 joint publications
Andrea Cortese
3 joint publications
Macarena Cabrera-Serrano
2 joint publications
Richard J L F Lemmers
2 joint publications
Alejandro Horga
2 joint publications
Michael C Fahey
2 joint publications
Heba Morsy
