ABCA4midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease

In SilicoFunctional Meta-Analysis of 5,962ABCA4Variants in 3,928 Retinal Dystrophy Cases

(2017) Stéphanie S. Cornelis et al.   HUMAN MUTATION

The intronicABCA4c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level

(2016) Ingvild Aukrust et al.   ACTA OPHTHALMOLOGICA

Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups

(2016) David A. Parfitt et al.   Cell Stem Cell

In vitroandin vivorescue of aberrant splicing inCEP290-associated LCA by antisense oligonucleotide delivery

(2016) Alejandro Garanto et al.   HUMAN MOLECULAR GENETICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

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

(2016) Riccardo Sangermano et al.   OPHTHALMOLOGY

The Musashi 1 Controls the Splicing of Photoreceptor-Specific Exons in the Vertebrate Retina

(2016) Daniel Murphy et al.   PLoS Genetics

Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation

(2016) Radulfus WN Slijkerman et al.   Molecular Therapy-Nucleic Acids

Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1

(2016) Tobias Bonifert et al.   Molecular Therapy-Nucleic Acids

Learning the Sequence Determinants of Alternative Splicing from Millions of Random Sequences

(2015) Alexander B. Rosenberg et al.   CELL

Functional Classification ofBRCA2DNA Variants by Splicing Assays in a Large Minigene with 9 Exons

(2015) Alberto Acedo et al.   HUMAN MUTATION

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease

(2013) Terry A. Braun et al.   HUMAN MOLECULAR GENETICS

Differential Phospholipid Substrates and Directional Transport by ATP-binding Cassette Proteins ABCA1, ABCA7, and ABCA4 and Disease-causing Mutants

(2013) Faraz Quazi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation

(2013) Xavier Gerard et al.   Molecular Therapy-Nucleic Acids

NIH Image to ImageJ: 25 years of image analysis

(2012) Caroline A Schneider et al.   NATURE METHODS

Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290

(2012) Rob WJ Collin et al.   Molecular Therapy-Nucleic Acids

DBASS3 and DBASS5: databases of aberrant 3'- and 5'-splice sites

(2010) E. Buratti et al.   NUCLEIC ACIDS RESEARCH

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH