Alejandro Garanto

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 · 198 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

<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 · 175 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A&gt;G LCA10 Models

Kalyan Dulla, Mònica Aguilà, Amelia Lane et al. · Molecular Therapy — Nucleic Acids · 2018 · 166 citations · Full text

Life Sciences, Genetics, Molecular Biology +11

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

Alejandro Garanto, Riccardo Sangermano, Sarah Naessens et al. · Genetics in Medicine · 2019 · 163 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 136 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11