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List of works by Bart Leroy

A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa.

scientific article published on November 2015

A common NYX mutation in Flemish patients with X linked CSNB.

scientific article

A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy.

scientific article

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

scientific article published on 23 January 2019

Abnormal retinal development associated with FRMD7 mutations.

scientific article

Added value of infrared, red-free and autofluorescence fundus imaging in pseudoxanthoma elasticum

scientific article published in September 2009

Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium

scientific article published on 03 June 2020

Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial

scientific article

Age-dependent ocular phenotype in hereditary hyperferritinaemia cataract syndrome (HHCS)

scientific article published on 08 June 2011

An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients.

scientific article published in January 2015

An update on the ocular phenotype in patients with pseudoxanthoma elasticum

scientific article published on 04 April 2013

Analysis of KERA in four families with cornea plana identifies two novel mutations.

scientific article published on 5 July 2017

Antisense oligonucleotide treatment in CEP290‐related leber congenital amaurosis ⬇️

scholarly article

Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: evidence for a spectrum of ectopic calcification disorders?

scientific article published on 30 September 2011

Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7

scientific article published on 18 February 2016

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.

scientific article

Biallelic mutation of BEST1 causes a distinct retinopathy in humans

scientific article

Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement ⬇️

scientific article

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

scientific article published on 31 October 2018

Birdshot-like chorioretinopathy in common variable immunodeficiency

scientific article published in January 2012

CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

scientific article published on October 2010

CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up Study

scientific article published on 15 April 2020

CUGC for congenital primary aphakia

scientific article published on 16 May 2018

Cancer-associated retinopathy (CAR) with electronegative ERG: a case report

scientific article published on 25 August 2007

Characterization of cardiovascular involvement in pseudoxanthoma elasticum families

scientific article published on 22 August 2013

Childhood-Onset Autosomal Recessive Bestrophinopathy

scientific article published on 01 August 2011

Claudin 19-based familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a sibling pair.

scientific article published on 23 March 2016

Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290

scientific article published on 01 September 2018

Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone–Rod Dystrophy ⬇️

scientific article published on January 20, 2012

Clinical Perspective: Treating RPE65-Associated Retinal Dystrophy

scientific article published on 02 December 2020

Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial

scientific article published on 15 October 2020

Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree

scientific article

Clinical features & retinal function in patients with adult Refsum syndrome

scientific article

Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).

scientific article published on 11 January 2012

Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss

scientific article

Colour Vision in Stargardt Disease

scientific article

Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10

scientific article published on 01 December 2021

Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.

scientific article published on 13 October 2016

Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

scientific article published on 01 April 2019

Correction: Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

article

DETAILED CLINICAL PHENOTYPING OF OXALATE MACULOPATHY IN PRIMARY HYPEROXALURIA TYPE 1 AND REVIEW OF THE LITERATURE.

scientific article published on 28 April 2016

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

scientific article published on 24 June 2016

Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome

scientific article

Detailed functional and structural phenotype of Bietti crystalline dystrophy associated with mutations in CYP4V2 complicated by choroidal neovascularization

scientific article published on 30 March 2016

Development of a genotyping microarray for Usher syndrome

scientific article published on 08 September 2006

Diplopia as presenting sign of Turcot syndrome

scientific article

Discordance for retinitis pigmentosa in two monozygotic twin pairs

scientific article published in June 2011

Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene ⬇️

scientific article published on December 2015

Do not turn a blind eye to alkyl nitrite (poppers)!

scientific article published on 14 May 2015

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes.

scientific article

Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect

scientific article published on 17 December 2018

Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial.

scientific article published on 13 July 2017

Efficacy, Safety, and Durability of Voretigene Neparvovec-rzyl in RPE65 Mutation-Associated Inherited Retinal Dystrophy: Results of Phase 1 and 3 Trials

scientific article published on 22 June 2019

Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function.

scientific article published on 19 June 2012

Erratum to: Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

scientific article published on 22 July 2010

Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations

scientific article published on 21 January 2011

FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation

scientific article

Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy

scientific article published on 12 December 2019

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility

scientific article published on 30 January 2020

Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes

scientific article

Genotyping microarray for CSNB-associated genes.

scientific article

Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1.

scientific article published on 28 August 2015

High-resolution optical coherence tomography, autofluorescence, and infrared reflectance imaging in Sjögren reticular dystrophy

scientific article

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

scientific article

Hydroxychloroquine hitting the headlines-retinal considerations

scientific article published on 19 May 2020

Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome.

scientific article

Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.

scientific article published on 13 March 2014

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.

scientific article published in December 2011

Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa

scientific article published on 17 August 2006

Is oral moxifloxacin associated with bilateral acute iris transillumination?

scientific article published on 25 October 2017

Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination

scientific article

Isolated maculopathy associated with biallelic CRB1 mutations

scientific article published on 20 April 2016

Large deletions of theKCNV2gene are common in patients with cone dystrophy with supernormal rod response

article

Long-Term Follow-Up of Retinal Degenerations Associated With LRAT Mutations and Their Comparability to Phenotypes Associated With RPE65 Mutations

scientific article published on 01 July 2019

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

scientific article published on 27 July 2017

Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis

scientific article published on 26 January 2012

Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.

scientific article published on 15 March 2013

Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis

scientific article

Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation.

scientific article published on 27 March 2008

Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes

scientific article published on 03 September 2019

Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity

scientific article published on 21 December 2015

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome

scientific article

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

scientific article

Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia

scientific article published on 22 August 2018

Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).

scientific article published in October 2004

New variants and in silico analyses in GRK1 associated Oguchi disease

scientific article published on 30 November 2020

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

scientific article published on 16 April 2010

Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus.

scientific article published on 12 February 2015

Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart

scientific article published in January 2008

Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.

scientific article

Ocular involvement in systemic sclerosis: A systematic literature review, it's not all scleroderma that meets the eye

scientific article published on 28 December 2018

PATHOGENIC VARIANTS IN THE ABCC6 GENE ARE ASSOCIATED WITH AN INCREASED RISK FOR ISCHEMIC STROKE.

scientific article published on 3 May 2018

Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?

scientific article published on 01 September 2007

Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity

scientific article

Ptosis as an associated finding in maternally inherited diabetes and deafness.

scientific article published in December 2010

Questioning the Pathogenic Role of the GLA p.Ala143Thr "Mutation" in Fabry Disease: Implications for Screening Studies and ERT

scientific article published on 29 July 2012

Rapid recovery of night blindness due to obesity surgery after vitamin A repletion therapy

scientific article published on April 2004

Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa

scientific article

Refined genetic and physical mapping of BPES type II.

scientific article published in January 1996

Retinal Development in Infants and Young Children with Achromatopsia.

scientific article

Reversible visual deficit and Corpus callosum lesions due to metronidazole toxicity.

scientific article published on 26 April 2005

SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism

scientific article published on 28 August 2013

Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 trial.

scientific article published on 30 June 2016

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation

scientific article (publication date: 15 July 2001)

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

scientific article published on 24 February 2010

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness

scientific article

The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond

scientific article published on 06 February 2019

The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene

article

The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus

scientific article

The corneoscleral shape in Marfan syndrome

scientific article published on 30 September 2020

The human visual cortex responds to gene therapy-mediated recovery of retinal function

scientific article

The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA.

scientific article published on 10 October 2017

The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56

scientific article published on 28 January 2020

The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations

scientific article

The spectrum of ocular phenotypes caused by mutations in the BEST1 gene

scientific article published on 16 April 2009

Two cases of acute macular neuroretinopathy

scientific article published on 15 September 2006

Unilateral cancer-associated retinopathy: diagnosis, serology and treatment

scientific article

Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome

scientific article published in September 2007

VEGFA variants as prognostic markers for the retinopathy in Pseudoxanthoma elasticum

scientific article published on 08 April 2020

Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa

scientific article

Vitreous Hemorrhage as Presenting Sign of Retinal Arteriovenous Malformation

scientific article published on 19 October 2020

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders

scientific article published on 28 March 2019

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness

scientific article

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

scientific article

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