- Work address
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C. Heymanslaan 10
9000 Gent - Bart.Leroy@UGent.be
- ORCID iD
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https://orcid.org/0000-0002-9899-2081
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Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke
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Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease (IRD) expands the molecular and phenotypic spectrum of recently identified IRD genes
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Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease expands the molecular and phenotypic spectrum of recently identified iRD genes
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Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation : rare novel disease genes and a multitude of novel variants in known disease genes
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- journalArticle
- A1
- open access
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
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Efficacy of tumour necrosis factor inhibitors in peripheral ulcerative keratitis in Granulomatosis with polyangiitis
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Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
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Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
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Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation : rare novel disease genes and a multitude of novel variants in known disease genes
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Who stole my cholesterol? : a case report of night blindness and virtually absent serum betalipoproteins
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- journalArticle
- A1
- open access
Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes
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- journalArticle
- A1
- open access
arrEYE : a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs
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Homozygosity mapping-guided exome sequencing in LCA patients of consanguineous origin reveals mutations in known genes and a novel candidate gene
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- journalArticle
- A1
- open access
Mutations in splicing factor genes are a major cause of autosomal dominant retinitis pigmentosa in Belgian families
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Homozygosity mapping-guided exome sequencing in LCA patients of consanguineous origin reveals mutations in known genes and a novel candidate gene
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Diplopia as presenting sign of Turcot syndrome
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Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa
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Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa
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Hidden genetic variation in retinal dystrophies : exploring the contribution of copy number variations
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Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms
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Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms
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Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms
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- journalArticle
- A1
- open access
Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, a gene implicated in ubiquitination
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Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis
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Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis
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Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis
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Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis
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Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms
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Biallelic mutations in GNB3 cause a unique form of autosomal-recessive congenital stationary night blindness
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- journalArticle
- A1
- open access
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy
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Detailed clinical phenotyping of oxalate maculopathy in primary hyperoxaluria type 1 and review of the literature
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Visual prognosis in USH2A-associated retinitis pigmentosa is worse for patients with Usher syndrome type IIa than for those with nonsyndromic retinitis pigmentosa
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Claudin 19-based familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a sibling pair
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- journalArticle
- A1
- open access
Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7
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Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity
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Association of variants in the VEGFA (Vascular Endothelial Growth Factor) gene with severe retinopathy in pseudoxanthoma elasticum: implications for molecular screening, counseling and management
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Do not turn a blind eye to alkyl nitrite (poppers)!
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Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa
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Homozygous deletion of glutamate receptor gene GRID2 causes early-onset cerebellar ataxia and retinal dystrophy
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Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa
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Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa
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Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa
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Colour vision in Stargardt disease
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Novel FRMD7 mutations and genomic rearrangement expand the molecular pathogenesis of X-linked idiopathic infantile nystagmus
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Novel FRMD7 mutations and genomic rearrangement expand the molecular pathogenesis of X-linked idiopathic infantile nystagmus
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SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein
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SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein
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SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein
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SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein
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A nonsense mutation in FAM161A is a recurrent founder allele in Dutch and Belgian individuals with autosomal recessive retinitis pigmentosa
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Disease expression in autosomal recessive retinal dystrophy associated with mutations in the DRAM2 gene
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- journalArticle
- A1
- open access
Hidden genetic variation in LCA9-associated congenital blindness explained by 5′UTR mutations and copy-number variations of NMNAT1
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Anti-VEGF treatment in Pseudoxanthoma elasticum: preliminary results of a long-term ophthalmological follow-up
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- journalArticle
- A2
- open access
Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy
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Retinal development in infants and young children with achromatopsia
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Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement
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Advancing Therapeutic Strategies for Inherited Retinal Degeneration: Recommendations From the Monaciano Symposium
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Novel FRMD7 mutations and genomic rearrangement expand the molecular pathogenesis of X-linked idiopathic infantile nystagmus
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An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients
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Prominent Mittendorf spot
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Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome
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Refsum disease
(2015) GeneReviews®. -
Exploring the role of a novel disease gene EML4 in autosomal recessive retinitis pigmentosa
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Novel and known FRMD7 mutations and copy number variation in Belgian patients with X-linked idiopathic infantile nystagmus
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Novel and known FRMD7 mutations and copy number variation in Belgian patients with X-linked idiopathic infantile nystagmus
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Novel and known FRMD7 mutations and copy number variation in Belgian patients with X-linked idiopathic infantile nystagmus
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Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy
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- journalArticle
- A1
- open access
Abnormal retinal development associated with FRMD7 mutations
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- journalArticle
- A1
- open access
Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2
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SLC24A5 Mutations are associated with non-syndromic oculocutaneous albinism
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Identity-by-descent mapping and exome sequencing reveals a new candidate gene for the primary congenital glaucoma locus GLC3E
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Identity-by-descent mapping and exome sequencing reveals a new candidate gene for the primary congenital glaucoma locus GLC3E
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Identification of novel homozygous deletions in consanguineous pedigrees as a shortcut to candidate gene discovery in retinal dystrophies
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Identification of novel homozygous deletions in consanguineous pedigrees as a shortcut to candidate gene discovery in retinal dystrophies
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Identification of novel homozygous deletions in consanguineous pedigrees as a shortcut to candidate gene discovery in retinal dystrophies
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Identification of novel homozygous deletions in consanguineous pedigrees as a shortcut to candidate gene discovery in hereditary blindness
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A dual approach for comprehensive genetic testing of ABCA4 in Stargardt disease
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Exome sequencing identifies a novel RP1 mutation in a Belgian family with autosomal dominant retinitis pigmentosa
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Regulatory mutations in the 5'UTR of NMNAT1, encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis
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A dual approach for comprehensive genetic testing of ABCA4 in Stargardt disease
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Exome sequencing identifies a novel RP1 mutation in a Belgian family with autosomal dominant retinitis pigmentosa
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Regulatory mutations in the 5'UTR of NMNAT1, encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis
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- journalArticle
- A1
- open access
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy
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High-resolution optical coherence tomography, autofluorescence, and infrared reflectance imaging in Sjögren reticular dystrophy
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Characterization of cardiovascular involvement in pseudoxanthoma elasticum families
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Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness
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- journalArticle
- A1
- open access
Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome
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Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction
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- bookChapter
- open access
Questioning the pathogenic role of the GLA p.Ala143Thr 'mutation' in Fabry disease: implications for screening studies and ERT
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Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2
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Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2
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Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2
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Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2
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Exploring the role of a novel disease gene RERG in early-onset retinal dystrophy and related conditions
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Identification de gènes candidats pour des dystrophies rétiniennes par des délétions homozygotes
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Regulatory mutations in the 5'UTR of NMNAT1, encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis
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Regulatory mutations in the 5'UTR of NMNAT1, encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis
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Translational impact of VEGFA variants on the prediction and follow-up of ocular complications in pseudoxanthoma elasticum
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Translational impact of VEGFA variants on the prediction and follow-up of ocular complications in pseudoxanthoma elasticum
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Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function
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A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia
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BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome
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Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies)
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Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis
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Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy
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Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness
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Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement
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Age-dependent ocular phenotype in hereditary hyperferritinaemia cataract syndrome (HHCS)
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Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2
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Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2
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- journalArticle
- A1
- open access
The human visual cortex responds to gene therapy-mediated recovery of retinal function
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Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa
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Correction of the lower eyelid malpositioning in the blepharophimosis-ptosis-epicanthus inversus syndrome
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Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response
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Insights into levator muscle dysfunction in a cohort of patients with molecularly confirmed blepharophimosis-ptosis-epicanthus inversus syndrome using high-resolution imaging, anatomic examination and histopathologic examination
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Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa : evidence for a spectrum of ectopic calcification disorders?
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Childhood onset autosomal recessive bestrophinopathy
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Discordance for retinitis pigmentosa in two monozygotic twin pairs
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The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus
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Etiological diagnosis in the hearing impaired newborn: proposal of a flow chart
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Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations
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Ptosis as an associated finding in maternally inherited diabetes and deafness
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DNA-chipanalyse in de moleculaire diagnostiek van genetisch heterogene aandoeningen : netvliesaandoeningen als voorbeeld
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CEP290, a gene with many faces : mutation overview and presentation of CEP290base
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Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes
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A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy
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Adult Refsum disease: a form of tapetoretinal dystrophy accessible to therapy
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Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients
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Added value of infrared, red-free and autofluorescence fundus imaging in Pseudoxanthoma elasticum
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Normalization of Generalized Retinal Function and Progression of Maculopathy after Cessation of Therapy in a Case of Severe Hydroxychloroquine Retinopathy with 19 years Follow-Up
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TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness
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Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial
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Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders
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The spectrum of ocular phenotypes caused by mutations in the BEST1 gene
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- journalArticle
- A1
- open access
A common NYX mutation in Flemish patients with X linked CSNB
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Genotyping microarray for CSNB-associated genes
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ORGANIC ACIDURIA AND LATE ONSET OPTIC ATROPHY
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Ocular features of treatable lysosomal storage disorders: Fabry disease, mucopolysaccharidoses I, II, VI, and Gaucher disease
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Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome
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Vitamin A deficiency during pregnancy and congenital microphthalmos
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Orbital cyst and bilaterel colobomatous microphthalmos Reply
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Cancer-associated retinopathy (CAR) with electronegative ERG: a case report
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Biallelic mutation of BEST1 causes a distinct retinopathy in humans
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Novel clinico-molecular insights in Pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart
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Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation
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Two cases of acute macular neuroretinopathy
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Preliminary screening results for fabry disease in young stroke patients reveals a new mutation
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High β-trace protein concentration in the fluid of an orbital cyst associated with bilateral colobomatous microphthalmos
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Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome
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Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?
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Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa
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- journalArticle
- A1
- open access
Development of a genotyping microarray for Usher syndrome
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Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity
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Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa
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Retinal vessel dilation following repletion of vitamin A deficiency
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Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis
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Visceral and testicular calcifications as part of the phenotype in pseudoxanthoma elasticum: ultrasound findings in Belgian patients and healthy carriers
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Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in Blepharophimosis syndrome
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Mutations in VMD2 cause autosomal dominant vitreoretinochoroidopathy (ADVIRC)
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Myopia: more than a refractive error: Lasik and retinal dystrophies
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Reversible visual deficit and corpus callosum lesions due to metronidazole toxicity
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Centrale en perifere neurologische toxiciteit door metronidazol
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A new type of autosomal recessive spondyloepiphyseal dysplasia tarda
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Rapid recovery of night blindness due to obesity surgery after vitamin A repletion therapy
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The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations
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Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC)
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Progressive rod-cone dystrophy with subacute angle-closure glaucoma
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Progressive cone dystrophy and sensorineural hearing loss
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Clinical features & retinal function in patients with Adult Refsum Syndrome
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Leber congenital amaurosis
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Alport syndrome and conjunctival telangiectasia
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The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK
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FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation
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Novel insights in genotype-phenotype correlations in BPES through in-depth FOXL2 mutation analysis
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Genetic causes of retinal blindness
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Spectrum of mutations in USH2A in British patients with Usher syndrome type II
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Spectrum and distribution of FOXL2 gene mutations and variants in BPES, POF and XX male patients: tentative genotype-phenotype correlation
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Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation
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Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree.
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A gene for nonsyndromic persistant hyperplastic primary vitreous maps to chromosome10q11-21 in a Pakistani family.
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Locus for autosomal recessive nonsyndromic persistent hyperplastic primary vitreous
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Mesopic visual acuity requirements for driving licences in the European Union research report
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RP1 protein truncating mutations predominate at the RP1 adRP locus
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Novel locus for autosomal recessive cone-rod dystrophy CORD8 mapping to chromosome 1q12-Q24
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Prevalence of AIPL1 mutations in inherited retinal degenerative disease
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Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma
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A large field panel D-15 test for low vision patients
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Colour vision and colour vision deficiencies
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Ophthalmological signs of tuberous sclerosis
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Refined genetic and physical mapping of BPES type II
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Neuropsychological aspects of Marfan syndrome
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Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): report of a large family
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Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): clinical subtypes and their genotype
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Ocular anomalies in an unbalanced translocation between chromosomes 7 and 8
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T-cell receptor expression in patients with rheumatic diseases
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T-cell receptor expression in patients with rheumatic diseases
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Mutations in Usherin in British patients with Usher syndrome type 2