Riccardo Sangermano

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

Riccardo Sangermano, Alejandro Garanto, Mubeen Khan et al. · Genetics in Medicine · 2019 · 192 citations · Full text

<i>ABCA4</i>midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease

Riccardo Sangermano, Mubeen Khan, Stéphanie S. Cornelis et al. · Genome Research · 2017 · 170 citations · Full text

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Miriam Bauwens, Alejandro Garanto, Riccardo Sangermano et al. · Genetics in Medicine · 2019 · 158 citations · Full text

Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease

Sílvia Albert, Alejandro Garanto, Riccardo Sangermano et al. · The American Journal of Human Genetics · 2018 · 132 citations · Full text

Developmental Anomaly, Genetic Disorder, Genetics +8

Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease

Riccardo Sangermano, Nathalie M. Bax, Miriam Bauwens et al. · Ophthalmology · 2016 · 118 citations

Abca4 C.5461-10t→c Mutation, Genetic Disorder, Natural Sciences +8