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Congenital stationary night blindness: An analysis and update of genotype–phenotype correlations and pathogenic mechanisms

Progress in retinal and eye research, 2015-03, Vol.45, p.58-110

2015

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Characterization of SSBP1-related optic atrophy and foveopathy

Scientific reports, 2021-09, Vol.11 (1), p.18703-18703, Article 18703

2021

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Neoplasia and intraocular inflammation: From masquerade syndromes to immunotherapy-induced uveitis

Progress in retinal and eye research, 2019-09, Vol.72, p.100761-100761, Article 100761

2019

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Near-infrared fundus autofluorescence alterations correlate with swept-source optical coherence tomography angiography findings in patients with retinitis pigmentosa

Scientific reports, 2021-02, Vol.11 (1), p.3180-3180, Article 3180

2021

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The genetics of rod-cone dystrophy in Arab countries: a systematic review

European journal of human genetics : EJHG, 2021-06, Vol.29 (6), p.897-910

2021

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Progression of Stargardt Disease as Determined by Fundus Autofluorescence in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 9)

JAMA ophthalmology, 2017-11, Vol.135 (11), p.1232

2017

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Frequency and Clinical Pattern of Vitelliform Macular Dystrophy Caused by Mutations of Interphotoreceptor Matrix IMPG1 and IMPG2 Genes

Ophthalmology (Rochester, Minn.), 2014-12, Vol.121 (12), p.2406-2414

2014

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Impact of Retinitis Pigmentosa on Quality of Life, Mental Health and Employment Among Young Adults

American journal of ophthalmology, 2017-05, Vol.177, p.169-174

2017

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Retrospective Natural History Study of RPGR -Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease

International journal of molecular sciences, 2022-06, Vol.23 (13), p.7189

2022

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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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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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Mice Lacking Gpr179 with Complete Congenital Stationary Night Blindness Are a Good Model for Myopia

International journal of molecular sciences, 2022-12, Vol.24 (1), p.219

2022

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Longitudinal Changes in Scotopic and Mesopic Macular Function as Assessed with Microperimetry in Patients With Stargardt Disease: SMART Study Report No. 2

American journal of ophthalmology, 2022-04, Vol.236, p.32-44

2022

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The Negative ERG: Clinical Phenotypes and Disease Mechanisms of Inner Retinal Dysfunction

Survey of ophthalmology, 2008-01, Vol.53 (1), p.16-40

2008

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Generation of gene corrected human isogenic iPSC lines (IDVi003-A_CR13, IDVi003-A_CR21, IDVi003-A_CR24) from an inherited retinal dystrophy patient-derived IPSC line ITM2B-5286-3 (IDVi003-A) carrying the ITM2B c.782A > C variant using CRISPR/Cas9

Stem cell research, 2023-09, Vol.71, p.103166-103166, Article 103166

2023

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Large Benefit from Simple Things: High-Dose Vitamin A Improves RBP4 -Related Retinal Dystrophy

International journal of molecular sciences, 2022-06, Vol.23 (12), p.6590

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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Progressive chorioretinal involvement in a patient with light-chain (AL) amyloidosis: a case report

BMC ophthalmology, 2020-02, Vol.20 (1), p.59-6, Article 59

2020

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Impact of the COVID-19 lockdown on basic science research in ophthalmology: the experience of a highly specialized research facility in France

Eye (London), 2020-07, Vol.34 (7), p.1187-1188

2020

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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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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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A Rare Case of Didanosine-Induced Mid-Peripheral Chorioretinal Atrophy Identified Incidentally 11 Years after the Drug Cessation

Medicina (Kaunas, Lithuania), 2022-05, Vol.58 (6), p.735

2022

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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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Delayed-onset hypoxic cortical blindness: coming back from the abyss

Documenta ophthalmologica, 2022-04, Vol.144 (2), p.147-152

2022

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Congenital stationary night blindness: An analysis and update of genotype–phenotype correlations and pathogenic mechanisms

Characterization of SSBP1-related optic atrophy and foveopathy

Neoplasia and intraocular inflammation: From masquerade syndromes to immunotherapy-induced uveitis

Near-infrared fundus autofluorescence alterations correlate with swept-source optical coherence tomography angiography findings in patients with retinitis pigmentosa

The genetics of rod-cone dystrophy in Arab countries: a systematic review

Progression of Stargardt Disease as Determined by Fundus Autofluorescence in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 9)

Frequency and Clinical Pattern of Vitelliform Macular Dystrophy Caused by Mutations of Interphotoreceptor Matrix IMPG1 and IMPG2 Genes

Impact of Retinitis Pigmentosa on Quality of Life, Mental Health and Employment Among Young Adults

Retrospective Natural History Study of RPGR -Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease

The research output of rod-cone dystrophy genetics

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

Mice Lacking Gpr179 with Complete Congenital Stationary Night Blindness Are a Good Model for Myopia

Longitudinal Changes in Scotopic and Mesopic Macular Function as Assessed with Microperimetry in Patients With Stargardt Disease: SMART Study Report No. 2

The Negative ERG: Clinical Phenotypes and Disease Mechanisms of Inner Retinal Dysfunction

Generation of gene corrected human isogenic iPSC lines (IDVi003-A_CR13, IDVi003-A_CR21, IDVi003-A_CR24) from an inherited retinal dystrophy patient-derived IPSC line ITM2B-5286-3 (IDVi003-A) carrying the ITM2B c.782A > C variant using CRISPR/Cas9

Large Benefit from Simple Things: High-Dose Vitamin A Improves RBP4 -Related Retinal Dystrophy

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

Progressive chorioretinal involvement in a patient with light-chain (AL) amyloidosis: a case report

Impact of the COVID-19 lockdown on basic science research in ophthalmology: the experience of a highly specialized research facility in France

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

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

A Rare Case of Didanosine-Induced Mid-Peripheral Chorioretinal Atrophy Identified Incidentally 11 Years after the Drug Cessation

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

Delayed-onset hypoxic cortical blindness: coming back from the abyss

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