Stefano Facchini
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 19 publications
A 5' UTR CCG expansion in TBC1D7 causes oculopharyngodistal myopathy.
Journal: medRxiv : the preprint server for health sciences
Published: April 10, 2026
Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability.
Journal: medRxiv : the preprint server for health sciences
Published: November 24, 2025
CGG repeat expansions in Charcot-Marie-Tooth disease: insights from the 100 000 Genomes Project.
Journal: Journal of neurology, neurosurgery, and psychiatry
Published: April 24, 2025
Pristine ices in a planet-forming disk revealed by heavy water.
Journal: Nature astronomy
Published: March 10, 2025
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.
Journal: Brain : a journal of neurology
Published: June 08, 2024
Tissue-specific TCF4 triplet repeat instability revealed by optical genome mapping.
Journal: EBioMedicine
Published: May 08, 2024
Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis.
Journal: The Lancet. Neurology
Published: February 03, 2024
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Journal: Brain : a journal of neurology
Published: October 06, 2023
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Journal: Nature communications
Published: September 29, 2023
Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions.
Journal: Biomolecules
Published: August 14, 2023
Last Updated: 09/26/2026