A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing
Preprint in medRxiv (April 2024)
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EDSpliCE, a CRISPR-Cas9 gene editing platform to rescue splicing, effectively corrects inherited retinal dystrophy-associated splicing defects
Preprint in bioRxiv (March 2024)
Novel compound heterozygous variants in LTBP2 associated with relative anterior microphthalmos.
Article in European Journal of Ophthalmology (March 2024)