Enrico Bugiardini

20PUBLICATIONS
163CO-AUTHORS
Cell and nuclear divisionGene mappingOptometryEpigenetics (incl. genome methylation and epigenomics)Major global burdens of disease
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Publications (20)

|Aug 25, 2026
Identification of Nuclear Genetic Loci Linked to Clinical Features of the m.3243A>G Mitochondrial DNA Variant.

|Mar 26, 2025
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing.

Wouter Steyaert, Lydia Sagath, German Demidov

|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 RFC1 Repeat Expansions.

Stefano Facchini, Natalia Dominik, Arianna Manini

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Frequent Collaborators

8 joint publications

Robert D S Pitceathly

6 joint publications

Henry Houlden

3 joint publications

Marco Savarese

3 joint publications

Gianina Ravenscroft