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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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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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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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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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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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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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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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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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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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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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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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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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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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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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Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush

International journal of molecular sciences, 2021-09, Vol.22 (19), p.10352

2021

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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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Identification and characterization of novel TRPM1 autoantibodies from serum of patients with melanoma-associated retinopathy

PloS one, 2020-04, Vol.15 (4), p.e0231750-e0231750

2020

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A New Mouse Model for Complete Congenital Stationary Night Blindness Due to Gpr179 Deficiency

International journal of molecular sciences, 2021-05, Vol.22 (9), p.4424

2021

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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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LRIT3 Differentially Affects Connectivity and Synaptic Transmission of Cones to ON- and OFF-Bipolar Cells

Investigative ophthalmology & visual science, 2017-03, Vol.58 (3), p.1768-1778

2017

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Genotypic and phenotypic characterization of P23H line 1 rat model

PloS one, 2015-05, Vol.10 (5), p.e0127319-e0127319

2015

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

Characterization of SSBP1-related optic atrophy and foveopathy

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

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

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

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

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

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

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

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

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

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

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

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

Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush

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

Identification and characterization of novel TRPM1 autoantibodies from serum of patients with melanoma-associated retinopathy

A New Mouse Model for Complete Congenital Stationary Night Blindness Due to Gpr179 Deficiency

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

LRIT3 Differentially Affects Connectivity and Synaptic Transmission of Cones to ON- and OFF-Bipolar Cells

Genotypic and phenotypic characterization of P23H line 1 rat model

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

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