prof. dr. Bart Leroy
- ORCID iD
- 0000-0002-9899-2081
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- Journal Article
- A1
- open access
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease
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Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction
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- Journal Article
- open access
Serum calcification propensity T50 associates with disease severity in patients with pseudoxanthoma elasticum
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- Journal Article
- open access
Results of Belgian patients with RPE65-related inherited retinal dystrophy 6 months after treatment with voretigene neparvovec
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Whole genome sequencing delineates novel non-coding variants and candidate genes in inherited retinal diseases
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A systematic approach to characterize the contribution of 5'UTR variation to inherited retinal disease
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Whole genome sequencing sheds light on the dark matter of the genome in patients with inherited retinal diseases
(2023) -
- Journal Article
- A1
- open access
Paediatric cataract surgery with 27G vitrectomy instrumentation : the Ghent University Hospital experience
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An in vitro enzymatic assay to elucidate the VUS problem in RPE65, a target for retinal gene therapy
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- Conference Paper
- C3
- open access
An in vitro enzymatic assay to elucidate the VUS problem in RPE65, a target for retinal gene therapy
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- Journal Article
- A1
- open access
Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy
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- Journal Article
- A1
- open access
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
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- Journal Article
- A1
- open access
Indirect comparison of lenadogene nolparvovec gene therapy versus natural history in patients with Leber hereditary optic neuropathy carrying the m.11778G>A MT-ND4 mutation
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- Journal Article
- A1
- open access
Outcome of cataract surgery in patients with retinitis pigmentosa
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- Conference Paper
- C3
- open access
An in vitro enzymatic assay to elucidate the VUS problem in RPE65, a target for retinal gene therapy
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- Journal Article
- A1
- open access
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
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- Conference Paper
- C3
- open access
Evaluation of visual outcome following cataract surgery in patients with retinitis pigmentosa
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- Journal Article
- A2
- open access
Restoration of cone sensitivity to individuals with congenital photoreceptor blindness within the phase 1/2 sepofarsen trial
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- Journal Article
- A1
- open access
Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10 : a phase 1b/2 trial
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- Journal Article
- A2
- open access
The natural history of leber congenital amaurosis and cone–rod dystrophy associated with variants in the GUCY2D gene
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- Journal Article
- A1
- open access
Serum calcification propensity T50 associates with disease severity in patients with pseudoxanthoma elasticum
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- Journal Article
- A1
- open access
X-linked Retinoschisis : novel clinical observations and genetic spectrum in 340 patients
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Clinical and subclinical findings in heterozygous ABCC6 carriers : results from a Belgian cohort and clinical practice guidelines
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- Journal Article
- A2
- open access
A virtual reality orientation and mobility test for inherited retinal degenerations : testing a proof-of-concept after gene therapy
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- Journal Article
- A1
- open access
Comparative natural history of visual function from patients with biallelic variants in BBS1 and BBS10
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Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C > A p.(Pro188Thr) in the C1QTNF5 gene
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Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the MT-ND6 gene
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CRB1-associated retinal dystrophies in a Belgian cohort : genetic characteristics and long-term clinical follow-up
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- Journal Article
- A1
- open access
The phenotypic spectrum of patients with PHARC syndrome due to variants in ABHD12 : an ophthalmic perspective
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- Journal Article
- A1
- open access
A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings
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- Journal Article
- A1
- open access
The need for widely available genomic testing in rare eye diseases : an ERN-EYE position statement
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- Journal Article
- A1
- open access
New variants and in silico analyses in GRK1 associated Oguchi disease
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Expanding the clinical spectrum and management of traboulsi syndrome : report on two siblings homozygous for a novel pathogenic variant in ASPH
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Isolated maculopathy and moderate rod-cone dystrophy represent the milder end of the RDH12-related retinal dystrophy spectrum
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- Journal Article
- A1
- open access
Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant
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The corneoscleral shape in Marfan syndrome
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- Journal Article
- A1
- open access
Clinical characteristics and natural history of rho-associated retinitis pigmentosa : a long-term follow-up study
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- Journal Article
- A2
- open access
Vitreous hemorrhage as presenting sign of retinal arteriovenous malformation
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VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum
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Exome-based panel testing as an efficient method to diagnose the highly heterogeneous ocular disorder spectrum Microphthalmia, Anophthalmia, Coloboma and Anterior Segment Dysgenesis (MAC-ASD)
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- Journal Article
- A1
- open access
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56
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- Journal Article
- A1
- open access
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss and reduced male fertility
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- Journal Article
- A1
- open access
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy
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Expanding the differential diagnosis of primary congenital glaucoma : molecular lessons learned from a large consanguineous family
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Expanding the CPAMD8-associated eye disease spectrum to primary congenital glaucoma : lessons learned from a large consanguineous family with pseudodominance
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Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect
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- Journal Article
- A1
- open access
Long-term follow-up of retinal degenerations associated with LRAT mutations and their comparability to phenotypes associated with RPE65 mutations
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Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss
(2019) -
Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss
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Antisense oligonucleotide-based correction of deep-intronic ABCA4 splice mutations using patient-derived fibroblasts and photoreceptor precursor cells