Sílvia Albert

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

Intein-mediated protein trans-splicing expands adeno-associated virus transfer capacity in the retina

Patrizia Tornabene, Ivana Trapani, Renato Minopoli et al. · Science Translational Medicine · 2019 · 177 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

Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations

Kalyan Dulla, Ralph Slijkerman, Hester C. van Diepen et al. · Molecular Therapy · 2021 · 135 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