Sandro Banfi

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases

RetiGene, a comprehensive gene atlas for inherited retinal diseases

Founder Homozygous Nonsense <i>CREB3</i> Variant and Variable-Onset Retinal Degeneration

Cystoid Macular Edema in Non-Syndromic Retinitis Pigmentosa: Associations With Causative Genes in a Large Cohort

Representation of Women Among Individuals With Mild Variants in <i>ABCA4</i>-Associated Retinopathy

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes

Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability

CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

<i>RPE65</i>-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

Association of Sex With Frequent and Mild <i>ABCA4</i> Alleles in Stargardt Disease

miR‐181a/b downregulation exerts a protective action on mitochondrial disease models

Resolving the dark matter of <i>ABCA4</i> for 1,054 Stargardt disease probands through integrated genomics and transcriptomics

Mutations in MFSD8, Encoding a Lysosomal Membrane Protein, Are Associated with Nonsyndromic Autosomal Recessive Macular Dystrophy

Three-Year Follow-up after Unilateral Subretinal Delivery of Adeno-Associated Virus in Patients with Leber Congenital Amaurosis Type 2

BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome

The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy