prof. dr. Bart Leroy
work address
C. Heymanslaan 10
9000 Gent
9000 Gent
ORCID iD

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- 2018
- 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 (
- Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease expands the molecular and phenotypic spectrum of recently identified iRD genes (
- Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation: rare novel disease genes and a multitude of novel variants in known disease genes (
- Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations (
- 2017
- Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations (
- Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations (
- Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation: rare novel disease genes and a multitude of novel variants in known disease genes (
- Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes (
- 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 (
- Homozygosity mapping-guided exome sequencing in LCA patients of consanguineous origin reveals mutations in known genes and a novel candidate gene (
- Mutations in splicing factor genes are a major cause of autosomal dominant retinitis pigmentosa in Belgian families (
- Homozygosity mapping-guided exome sequencing in LCA patients of consanguineous origin reveals mutations in known genes and a novel candidate gene (
- Diplopia as presenting sign of Turcot syndrome (
- 2016
- Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa (
- Coding and non-coding copy number variations explaining unsolved retinal dystrophies: role of genomic architectural features and underlying mechanisms (
- Hidden genetic variation in retinal dystrophies – exploring the contribution of copy number variations (
- Coding and non-coding copy number variations explaining unsolved retinal dystrophies: role of genomic architectural features and underlying mechanisms (
- Coding and non-coding copy number variations explaining unsolved retinal dystrophies: role of genomic architectural features and underlying mechanisms (
- Coding and non-coding copy number variations explaining unsolved retinal dystrophies: role of genomic architectural features and underlying mechanisms (
- Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, a gene implicated in ubiquitination (
- Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis (
- Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis (
- Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis (
- Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis (
- Coding and non-coding copy number variations explaining unsolved retinal dystrophies: role of genomic architectural features and underlying mechanisms (
- Biallelic mutations in GNB3 cause a unique form of autosomal-recessive congenital stationary night blindness (
- De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy (
- Detailed clinical phenotyping of oxalate maculopathy in primary hyperoxaluria type 1 and review of the literature (
- Visual prognosis in USH2A-associated retinitis pigmentosa is worse for patients with Usher syndrome type IIa than for those with nonsyndromic retinitis pigmentosa (
- Claudin 19-based familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a sibling pair (
- Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7 (
- Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity (
- Association of variants in the VEGFA (Vascular Endothelial Growth Factor) gene with severe retinopathy in pseudoxanthoma elasticum: implications for molecular screening, counseling and management (
- Do not turn a blind eye to alkyl nitrite (poppers)! (
- 2015
- Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa (
- Homozygous deletion of glutamate receptor gene GRID2 causes early-onset cerebellar ataxia and retinal dystrophy (
- Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa (
- Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa (
- Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa (
- Colour vision in Stargardt disease (
- Novel FRMD7 mutations and genomic rearrangement expand the molecular pathogenesis of X-linked idiopathic infantile nystagmus (
- Novel FRMD7 mutations and genomic rearrangement expand the molecular pathogenesis of X-linked idiopathic infantile nystagmus (
- SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein (
- SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein (
- SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein (
- SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein (
- A nonsense mutation in FAM161A is a recurrent founder allele in Dutch and Belgian individuals with autosomal recessive retinitis pigmentosa (
- Disease expression in autosomal recessive retinal dystrophy associated with mutations in the DRAM2 gene (
- Hidden genetic variation in LCA9-associated congenital blindness explained by 5′UTR mutations and copy-number variations of NMNAT1 (
- Anti-VEGF treatment in Pseudoxanthoma elasticum: preliminary results of a long-term ophthalmological follow-up (
- Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy (
- Retinal development in infants and young children with achromatopsia (
- Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement (
- Advancing Therapeutic Strategies for Inherited Retinal Degeneration: Recommendations From the Monaciano Symposium (
- Novel FRMD7 mutations and genomic rearrangement expand the molecular pathogenesis of X-linked idiopathic infantile nystagmus (
- An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients (
- Prominent Mittendorf spot (
- Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome (
- Refsum disease (
- 2014
- Exploring the role of a novel disease gene EML4 in autosomal recessive retinitis pigmentosa (
- Novel and known FRMD7 mutations and copy number variation in Belgian patients with X-linked idiopathic infantile nystagmus (
- Novel and known FRMD7 mutations and copy number variation in Belgian patients with X-linked idiopathic infantile nystagmus (
- Novel and known FRMD7 mutations and copy number variation in Belgian patients with X-linked idiopathic infantile nystagmus (
- Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy (
- Abnormal retinal development associated with FRMD7 mutations (
- Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2 (
- SLC24A5 Mutations are associated with non-syndromic oculocutaneous albinism (
- 2013
- Identification of Novel Homozygous Deletions in Consanguineous Pedigrees as a Shortcut to Candidate Gene Discovery in Retinal Dystrophies (
- Identification of Novel Homozygous Deletions in Consanguineous Pedigrees as a Shortcut to Candidate Gene Discovery in Retinal Dystrophies (
- Identification of Novel Homozygous Deletions in Consanguineous Pedigrees as a Shortcut to Candidate Gene Discovery in Retinal Dystrophies (
- Identification of Novel Homozygous Deletions in Consanguineous Pedigrees as a Shortcut to Candidate Gene Discovery in Retinal Dystrophies (
- A dual approach for comprehensive genetic testing of ABCA4 in Stargardt disease (
- Exome sequencing identifies a novel RP1 mutation in a Belgian family with autosomal dominant retinitis pigmentosa (
- Regulatory mutations in the 5'UTR of NMNAT1, encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis (
- A dual approach for comprehensive genetic testing of ABCA4 in Stargardt disease (
- Exome sequencing identifies a novel RP1 mutation in a Belgian family with autosomal dominant retinitis pigmentosa (
- Regulatory mutations in the 5'UTR of NMNAT1, encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis (
- The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy (
- High-resolution optical coherence tomography, autofluorescence, and infrared reflectance imaging in Sjögren reticular dystrophy (
- Characterization of cardiovascular involvement in pseudoxanthoma elasticum families (
- Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness (
- Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome (
- Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction (
- Questioning the pathogenic role of the GLA p.Ala143Thr 'mutation' in Fabry disease: implications for screening studies and ERT (
- 2012
- Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2 (
- Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2 (
- Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2 (
- Exploring the role of a novel disease gene RERG in early-onset retinal dystrophy and related conditions (
- Identification de gènes candidats pour des dystrophies rétiniennes par des délétions homozygotes (
- Regulatory mutations in the 5'UTR of NMNAT1, encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis (
- Regulatory mutations in the 5'UTR of NMNAT1, encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis (
- Translational impact of VEGFA variants on the prediction and follow-up of ocular complications in pseudoxanthoma elasticum (
- Translational impact of VEGFA variants on the prediction and follow-up of ocular complications in pseudoxanthoma elasticum (
- Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function (
- A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia (
- BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome (
- Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies) (
- Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis (
- Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy (
- Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness (
- Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement (
- Age-dependent ocular phenotype in hereditary hyperferritinaemia cataract syndrome (HHCS) (
- 2011
- Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2 (
- Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2 (
- The human visual cortex responds to gene therapy-mediated recovery of retinal function (
- Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa (
- Correction of the lower eyelid malpositioning in the blepharophimosis-ptosis-epicanthus inversus syndrome (
- Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response (
- 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 (
- Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: evidence for a spectrum of ectopic calcification disorders? (
- Childhood onset autosomal recessive bestrophinopathy (
- Discordance for retinitis pigmentosa in two monozygotic twin pairs (
- The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus (
- Etiological diagnosis in the hearing impaired newborn: proposal of a flow chart (
- Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations (
- 2010
- Ptosis as an associated finding in maternally inherited diabetes and deafness (
- DNA-chipanalyse in de moleculaire diagnostiek van genetisch heterogene aandoeningen: netvliesaandoeningen als voorbeeld (
- CEP290, a gene with many faces : mutation overview and presentation of CEP290base (
- Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes (
- A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy (
- Adult Refsum disease: a form of tapetoretinal dystrophy accessible to therapy (
- Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients (
- Added value of infrared, red-free and autofluorescence fundus imaging in Pseudoxanthoma elasticum (
- 2009
- 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 (
- TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness (
- Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial (
- Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders (
- The spectrum of ocular phenotypes caused by mutations in the BEST1 gene (
- A common NYX mutation in Flemish patients with X linked CSNB (
- Genotyping microarray for CSNB-associated genes (
- ORGANIC ACIDURIA AND LATE ONSET OPTIC ATROPHY (
- 2008
- Ocular features of treatable lysosomal storage disorders: Fabry disease, mucopolysaccharidoses I, II, VI, and Gaucher disease (
- Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome (
- Vitamin A deficiency during pregnancy and congenital microphthalmos (
- Orbital cyst and bilaterel colobomatous microphthalmos Reply (
- Cancer-associated retinopathy (CAR) with electronegative ERG: a case report (
- Biallelic mutation of BEST1 causes a distinct retinopathy in humans (
- Novel clinico-molecular insights in Pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart (
- Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation (
- 2007
- Two cases of acute macular neuroretinopathy (
- Preliminary screening results for fabry disease in young stroke patients reveals a new mutation (
- High β-trace protein concentration in the fluid of an orbital cyst associated with bilateral colobomatous microphthalmos (
- Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome (
- Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding? (
- Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa (
- Development of a genotyping microarray for Usher syndrome (
- Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity (
- Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa (
- 2006
- Retinal vessel dilation following repletion of vitamin A deficiency (
- Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis (
- Visceral and testicular calcifications as part of the phenotype in pseudoxanthoma elasticum: ultrasound findings in Belgian patients and healthy carriers (
- 2005
- Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in Blepharophimosis syndrome (
- Mutations in VMD2 cause autosomal dominant vitreoretinochoroidopathy (ADVIRC) (
- Myopia: more than a refractive error: Lasik and retinal dystrophies (
- Reversible visual deficit and corpus callosum lesions due to metronidazole toxicity (
- 2004
- Centrale en perifere neurologische toxiciteit door metronidazol (
- A new type of autosomal recessive spondyloepiphyseal dysplasia tarda (
- Rapid recovery of night blindness due to obesity surgery after vitamin A repletion therapy (
- The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations (
- Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC) (
- Progressive rod-cone dystrophy with subacute angle-closure glaucoma (
- Progressive cone dystrophy and sensorineural hearing loss (
- 2003
- Clinical features & retinal function in patients with Adult Refsum Syndrome (
- Leber congenital amaurosis (
- Alport syndrome and conjunctival telangiectasia (
- The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK (
- FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation (
- 2002
- Novel insights in genotype-phenotype correlations in BPES through in-depth FOXL2 mutation analysis (
- Genetic causes of retinal blindness (
- 2001
- Spectrum of mutations in USH2A in British patients with Usher syndrome type II (
- Spectrum and distribution of FOXL2 gene mutations and variants in BPES, POF and XX male patients: tentative genotype-phenotype correlation (
- Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation (
- Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree. (
- Locus for autosomal recessive nonsyndromic persistent hyperplastic primary vitreous (
- Mesopic visual acuity requirements for driving licences in the European Union research report (
- A gene for nonsyndromic persistant hyperplastic primary vitreous maps to chromosome10q11-21 in a Pakistani family. (
- 2000
- RP1 protein truncating mutations predominate at the RP1 adRP locus (
- Novel locus for autosomal recessive cone-rod dystrophy CORD8 mapping to chromosome 1q12-Q24 (
- Prevalence of AIPL1 mutations in inherited retinal degenerative disease (
- Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma (
- 1998
- A large field panel D-15 test for low vision patients (
- 1997
- Colour vision and colour vision deficiencies (
- 1996
- Ophthalmological signs of tuberous sclerosis (
- Refined genetic and physical mapping of BPES type II (
- Neuropsychological aspects of Marfan syndrome (
- 1995
- Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): report of a large family (
- Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): clinical subtypes and their genotype (
- 1994
- Ocular anomalies in an unbalanced translocation between chromosomes 7 and 8 (
- 1992
- T-cell receptor expression in patients with rheumatic diseases (
- T-cell receptor expression in patients with rheumatic diseases (
- undated
- Mutations in Usherin in British patients with Usher syndrome type 2