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Retinitis pigmentosa

Orphanet journal of rare diseases, 2006-10, Vol.1 (1), p.40-40, Article 40

Hamel, Christian

2006

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Cone rod dystrophies

Orphanet journal of rare diseases, 2007-02, Vol.2 (1), p.7-7, Article 7

Hamel, Christian P

2007

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Dominant optic atrophy

Orphanet journal of rare diseases, 2012-07, Vol.7 (1), p.46-46

2012

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Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

PloS one, 2016-01, Vol.11 (1), p.e0145951-e0145951

2016

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OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution

Genome research, 2011-01, Vol.21 (1), p.12-20

2011

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Pathogenicity of a novel missense variant associated with choroideremia and its impact on gene replacement therapy

Human molecular genetics, 2017-09, Vol.26 (18), p.3573-3584

2017

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The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial

Investigative ophthalmology & visual science, 2017-02, Vol.58 (2), p.821-832

2017

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Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission

Brain (London, England : 1878), 2017-10, Vol.140 (10), p.2586-2596

2017

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OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model

Scientific reports, 2018-02, Vol.8 (1), p.2468-6, Article 2468

2018

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Gene discovery and prevalence in inherited retinal dystrophies

Comptes rendus. Biologies, 2014-03, Vol.337 (3), p.160-166

Hamel, Christian P.

2014

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Fatty acid transport protein 1 regulates retinoid metabolism and photoreceptor development in mouse retina

PloS one, 2017-07, Vol.12 (7), p.e0180148-e0180148

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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Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability

Human molecular genetics, 2015-07, Vol.24 (14), p.3948-3955

2015

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Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles

Molecular therapy. Methods & clinical development, 2020-06, Vol.17, p.156-173

2020

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Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness

American journal of human genetics, 2013-01, Vol.92 (1), p.67-75

2013

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Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa

Journal of medical genetics, 2021-08, Vol.58 (8), p.570-578

2021

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Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations

Human mutation, 2016-02, Vol.37 (2), p.184-193

2016

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WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity

Ophthalmology (Rochester, Minn.), 2016-09, Vol.123 (9), p.1989-1998

2016

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The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene

American journal of ophthalmology, 2019-03, Vol.199, p.58-70

2019

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

American journal of human genetics, 2016-08, Vol.99 (2), p.470-480

2016

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Clinical utility gene card for: Achromatopsia - update 2013

European journal of human genetics : EJHG, 2013-11, Vol.21 (11), p.1-3

2013

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A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability

Frontiers in genetics, 2015, Vol.6, p.311-311

2015

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Generation of a human iPSC line, INMi002-A, carrying the most prevalent USH2A variant associated with Usher syndrome type 2

Stem cell research, 2018-12, Vol.33, p.247-250

2018

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A truncated form of rod photoreceptor PDE6 β-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the γ-subunit

PloS one, 2014-04, Vol.9 (4), p.e95768-e95768

2014

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Retinitis pigmentosa

Cone rod dystrophies

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

Dominant optic atrophy

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution

Pathogenicity of a novel missense variant associated with choroideremia and its impact on gene replacement therapy

The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial

Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission

OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model

Gene discovery and prevalence in inherited retinal dystrophies

Fatty acid transport protein 1 regulates retinoid metabolism and photoreceptor development in mouse retina

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

Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability

Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles

Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness

Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa

Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations

WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity

The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene

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

Clinical utility gene card for: Achromatopsia - update 2013

A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability

Generation of a human iPSC line, INMi002-A, carrying the most prevalent USH2A variant associated with Usher syndrome type 2

A truncated form of rod photoreceptor PDE6 β-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the γ-subunit

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