A novel pathogenic CRB1 variant presenting as Leber Congenital Amaurosis 8 and evaluation of gene editing feasibility

Clinical and Therapeutic Evaluation of the Ten Most Prevalent CRB1 Mutations

(2023) Bruna Lopes da Costa et al.   Biomedicines

AAV-mediated gene augmentation therapy of CRB1 patient-derived retinal organoids restores the histological and transcriptional retinal phenotype

(2023) Nanda Boon et al.   Stem Cell Reports

CRB1-associated Retinal Dystrophies: Genetics, Clinical Characteristics and Natural History

(2022) Malena Daich Varela et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Defining Phenotype, Tropism, and Retinal Gene Therapy Using Adeno-Associated Viral Vectors (AAVs) in New-Born Brown Norway Rats with a Spontaneous Mutation in Crb1

(2021) Nanda Boon et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Enhanced prime editing systems by manipulating cellular determinants of editing outcomes

(2021) Peter J. Chen et al.   CELL

AAV-CRB2 protects against vision loss in an inducible CRB1 retinitis pigmentosa mouse model

(2020) Thilo Matthias Buck et al.   Molecular Therapy-Methods & Clinical Development

Delineation of the Exact Transcription Termination Signal for Type 3 Polymerase III

(2018) Zongliang Gao et al.   Molecular Therapy-Nucleic Acids

Genotypic and Phenotypic Characteristics of CRB1 -Associated Retinal Dystrophies

(2017) Mays Talib et al.   OPHTHALMOLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Gene therapy into photoreceptors and Müller glial cells restores retinal structure and function in CRB1 retinitis pigmentosa mouse models

(2015) Lucie P. Pellissier et al.   HUMAN MOLECULAR GENETICS

ISCEV Standard for full-field clinical electroretinography (2015 update)

(2014) Daphne L. McCulloch et al.   DOCUMENTA OPHTHALMOLOGICA

Whole Exome Sequencing Identifies CRB1 Defect in an Unusual Maculopathy Phenotype

(2014) Stephen H. Tsang et al.   OPHTHALMOLOGY

Preventing T7 RNA Polymerase Read-through Transcription—A Synthetic Termination Signal Capable of Improving Bioprocess Stability

(2014) Juergen Mairhofer et al.   ACS Synthetic Biology

CRB1mutations in inherited retinal dystrophies

(2011) Kinga Bujakowska et al.   HUMAN MUTATION

Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: The pitfalls of homozygosity mapping

(2009) Liat Benayoun et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Case Report: Autofluorescence Imaging and Phenotypic Variance in a Sibling Pair with Early-Onset Retinal Dystrophy Due to Defective CRB1 Function

(2009) Joaquin Tosi et al.   CURRENT EYE RESEARCH

Leber congenital amaurosis: Genes, proteins and disease mechanisms

(2008) Anneke I. den Hollander et al.   PROGRESS IN RETINAL AND EYE RESEARCH