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Partial recovery of visual function in a blind patient after optogenetic therapy

Nature Medicine, 2021-07, Vol.27 (7), p.1223-1229

2021

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The research output of rod-cone dystrophy genetics

Orphanet journal of rare diseases, 2022-04, Vol.17 (1), p.175-175, Article 175

2022

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Prevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved "One-Hit" Cohort with Stargardt Disease

International journal of molecular sciences, 2019-10, Vol.20 (20), p.5053

2019

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

Human molecular genetics, 2015-01, Vol.24 (1), p.230-242

2015

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Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy

International journal of molecular sciences, 2021-06, Vol.22 (12), p.6410

2021

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TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations

Scientific reports, 2019-08, Vol.9 (1), p.12047-6, Article 12047

2019

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Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation

Orphanet journal of rare diseases, 2015-06, Vol.10 (1), p.85-85, Article 85

2015

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Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

Orphanet journal of rare diseases, 2012-01, Vol.7 (1), p.8-8

2012

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Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies

International journal of molecular sciences, 2019-09, Vol.20 (19), p.4854

2019

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Expanding the Mutation Spectrum in ABCA4 : Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort

International journal of molecular sciences, 2018-07, Vol.19 (8), p.2196

2018

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Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy

Scientific reports, 2021-08, Vol.11 (1), p.16412-16412, Article 16412

2021

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Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB)

PloS one, 2014-03, Vol.9 (3), p.e90342-e90342

2014

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Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy

International journal of molecular sciences, 2021-08, Vol.22 (15), p.7875

2021

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A Mutation in SLC24A1 Implicated in Autosomal-Recessive Congenital Stationary Night Blindness

American journal of human genetics, 2010-10, Vol.87 (4), p.523-531

2010

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Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports

BMC medical genetics, 2010-10, Vol.11 (1), p.145-145, Article 145

2010

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RP1 and autosomal dominant rod-cone dystrophy: Novel mutations, a review of published variants, and genotype-phenotype correlation

Human mutation, 2012-01, Vol.33 (1), p.73-80

2012

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Novel Missense Mutations in BEST1 Are Associated with Bestrophinopathies in Lebanese Patients

Genes, 2019-02, Vol.10 (2), p.151

2019

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Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients

Investigative ophthalmology & visual science, 2010-07, Vol.51 (7), p.3687-3700

2010

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Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome

Investigative ophthalmology & visual science, 2021-02, Vol.62 (2), p.13-13

2021

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Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations

Investigative ophthalmology & visual science, 2020-12, Vol.61 (14), p.36-36

2020

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Assessing Photoreceptor Status in Retinal Dystrophies: From High-Resolution Imaging to Functional Vision

American journal of ophthalmology, 2021-10, Vol.230, p.12-47

2021

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Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization

Investigative ophthalmology & visual science, 2020-08, Vol.61 (10), p.36-36

2020

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MERTK mutation update in inherited retinal diseases

Human mutation, 2018-07, Vol.39 (7), p.887-913

2018

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CRB1 mutations in inherited retinal dystrophies

Human mutation, 2012-02, Vol.33 (2), p.306-315

2012

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Poppers-Associated Retinal Toxicity

The New England journal of medicine, 2010-10, Vol.363 (16), p.1583-1585

2010

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Partial recovery of visual function in a blind patient after optogenetic therapy

The research output of rod-cone dystrophy genetics

Prevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved "One-Hit" Cohort with Stargardt Disease

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

Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy

TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations

Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies

Expanding the Mutation Spectrum in ABCA4 : Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort

Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy

Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB)

Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy

A Mutation in SLC24A1 Implicated in Autosomal-Recessive Congenital Stationary Night Blindness

Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports

RP1 and autosomal dominant rod-cone dystrophy: Novel mutations, a review of published variants, and genotype-phenotype correlation

Novel Missense Mutations in BEST1 Are Associated with Bestrophinopathies in Lebanese Patients

Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome

Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations

Assessing Photoreceptor Status in Retinal Dystrophies: From High-Resolution Imaging to Functional Vision

Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization

MERTK mutation update in inherited retinal diseases

CRB1 mutations in inherited retinal dystrophies

Poppers-Associated Retinal Toxicity

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