Lista de obras - Bart Leroy - Dominio Público Uruguay

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

artículo científico publicado en 2015

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

artículo científico publicado en 2008

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

artículo científico publicado en 2010

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.

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado en 2020

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

artículo científico publicado en 2009

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

An update on the ocular phenotype in patients with pseudoxanthoma elasticum

artículo científico

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

artículo científico publicado en 2017

Antisense oligonucleotide treatment in CEP290‐related leber congenital amaurosis ⬇️

artículo científico publicado en 2019

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

Biallelic mutation of BEST1 causes a distinct retinopathy in humans

artículo científico publicado en 2008

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

artículo científico publicado en 2015

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

artículo científico publicado en 2018

Birdshot-like chorioretinopathy in common variable immunodeficiency

artículo científico publicado en 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

artículo científico publicado en 2020

CUGC for congenital primary aphakia

scientific article published on 16 May 2018

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

artículo científico publicado en 2007

Characterization of cardiovascular involvement in pseudoxanthoma elasticum families

artículo científico publicado en 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.

artículo científico publicado en 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 ⬇️

artículo científico publicado el 20 de enero de 2012

Clinical Perspective: Treating RPE65-Associated Retinal Dystrophy

artículo científico publicado en 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

artículo científico publicado en 2001

Clinical features & retinal function in patients with adult Refsum syndrome

artículo científico publicado en 2003

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

Colour Vision in Stargardt Disease

artículo científico publicado en 2015

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

artículo científico publicado en 2021

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

artículo científico publicado en 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.

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2005

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

artículo científico publicado en 2016

Development of a genotyping microarray for Usher syndrome

artículo científico publicado en 2006

Diplopia as presenting sign of Turcot syndrome

artículo científico publicado en 2016

Discordance for retinitis pigmentosa in two monozygotic twin pairs

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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.

artículo científico

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.

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico publicado en 2011

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

artículo científico publicado en 2003

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

artículo científico publicado en 2010

Genotyping microarray for CSNB-associated genes.

artículo científico publicado en 2009

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2009

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.

artículo científico publicado en 2008

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

artículo científico publicado en 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.

artículo científico publicado en 2011

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

artículo científico publicado en 2006

Is oral moxifloxacin associated with bilateral acute iris transillumination?

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Isolated maculopathy associated with biallelic CRB1 mutations

artículo científico publicado en 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

artículo científico publicado en 2017

Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2006

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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).

artículo científico publicado en 2004

New variants and in silico analyses in GRK1 associated Oguchi disease

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 2015

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

artículo científico publicado en 2008

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

artículo científico publicado en 2014

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

artículo científico publicado en 2018

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

artículo científico publicado en 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

artículo científico publicado en 2007

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 2004

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

artículo científico publicado en 2007

Refined genetic and physical mapping of BPES type II.

artículo científico publicado en 1996

Retinal Development in Infants and Young Children with Achromatopsia.

artículo científico publicado en 2015

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

artículo científico publicado en 2005

SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism

artículo científico publicado en 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.

artículo científico publicado en 2016

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

artículo científico publicado en 2001

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

artículo científico publicado en 2010

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

artículo científico publicado en 2009

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

artículo científico publicado en 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

artículo científico publicado en 2011

The corneoscleral shape in Marfan syndrome

artículo científico publicado en 2020

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

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 2004

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

artículo científico publicado en 2009

Two cases of acute macular neuroretinopathy

artículo científico publicado en 2006

Unilateral cancer-associated retinopathy: diagnosis, serology and treatment

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

Lista de obras de Bart Leroy

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

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

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

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

Abnormal retinal development associated with FRMD7 mutations.

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

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

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

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

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

An update on the ocular phenotype in patients with pseudoxanthoma elasticum

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

Antisense oligonucleotide treatment in CEP290‐related leber congenital amaurosis ⬇️

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

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

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

Biallelic mutation of BEST1 causes a distinct retinopathy in humans

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

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

Birdshot-like chorioretinopathy in common variable immunodeficiency

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

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

CUGC for congenital primary aphakia

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

Characterization of cardiovascular involvement in pseudoxanthoma elasticum families

Childhood-Onset Autosomal Recessive Bestrophinopathy

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

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

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

Clinical Perspective: Treating RPE65-Associated Retinal Dystrophy

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

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

Clinical features & retinal function in patients with adult Refsum syndrome

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

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

Colour Vision in Stargardt Disease

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

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

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

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

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

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

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

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

Development of a genotyping microarray for Usher syndrome

Diplopia as presenting sign of Turcot syndrome

Discordance for retinitis pigmentosa in two monozygotic twin pairs

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

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

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

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

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

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

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

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

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

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

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

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

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

Genotyping microarray for CSNB-associated genes.

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

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

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

Hydroxychloroquine hitting the headlines-retinal considerations

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

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

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.

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

Is oral moxifloxacin associated with bilateral acute iris transillumination?

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

Isolated maculopathy associated with biallelic CRB1 mutations

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

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

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

Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis

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

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

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