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Deafness-family matters

European journal of human genetics : EJHG, 2022-01, Vol.30 (1), p.5-6

Roux, Anne-Françoise

2022

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MobiDetails: online DNA variants interpretation

European journal of human genetics : EJHG, 2021-02, Vol.29 (2), p.356-360

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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CHM mutation spectrum and disease: An update at the time of human therapeutic trials

Human mutation, 2021-04, Vol.42 (4), p.323-341

2021

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The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders

Human mutation, 2020-02, Vol.41 (2), p.375-386

2020

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Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses

Human mutation, 2019-01, Vol.40 (1), p.31-35

2019

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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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Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories

International journal of molecular sciences, 2023-04, Vol.24 (8), p.7330

2023

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Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss

European journal of human genetics : EJHG, 2022-01, Vol.30 (1), p.34-41

2022

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Assessment of the latest NGS enrichment capture methods in clinical context

Scientific reports, 2016-02, Vol.6 (1), p.20948-20948, Article 20948

2016

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Enrichment of LOVD-USHbases with 152 USH2A Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots

Human mutation, 2014-10, Vol.35 (10), p.1179-1186

2014

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Generation of a human iPSC line, INMi005-A, from a patient with non-syndromic USH2A-associated retinitis pigmentosa

Stem cell research, 2022-04, Vol.60, p.102738-102738, Article 102738

2022

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Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy

Human mutation, 2012-01, Vol.33 (1), p.104-108

2012

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Molecular Therapy for Choroideremia: Pre-clinical and Clinical Progress to Date

Molecular diagnosis & therapy, 2021-11, Vol.25 (6), p.661-675

2021

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CRB1 -Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms

International journal of molecular sciences, 2021-11, Vol.22 (23), p.12642

2021

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Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration

Scientific reports, 2020-10, Vol.10 (1), p.17520-17520, Article 17520

2020

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The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A

International journal of molecular sciences, 2021-12, Vol.22 (24), p.13294

2021

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Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss

European journal of human genetics : EJHG, 2023-07, Vol.31 (7), p.834-840

2023

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Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation

Molecular therapy. Nucleic acids, 2016, Vol.5 (10), p.e381-e381, Article e381

2016

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Clinical Evaluation and Cone Alterations in Choroideremia

Ophthalmology (Rochester, Minn.), 2016-08, Vol.123 (8), p.1830-1832

2016

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Non-USH2A mutations in USH2 patients

Human mutation, 2012-03, Vol.33 (3), p.504-510

2012

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Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome

Human molecular genetics, 2015-01, Vol.24 (2), p.463-470

2015

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USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids

HGG advances, 2023-10, Vol.4 (4), p.100229-100229, Article 100229

2023

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EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus

European journal of human genetics : EJHG, 2013-11, Vol.21 (11), p.1325-1329

2013

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A Classification Model Relative to Splicing for Variants of Unknown Clinical Significance: Application to the CFTR Gene

Human mutation, 2013-05, Vol.34 (5), p.774-784

2013

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Deafness-family matters

MobiDetails: online DNA variants interpretation

Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations

CHM mutation spectrum and disease: An update at the time of human therapeutic trials

The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders

Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses

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

Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories

Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss

Assessment of the latest NGS enrichment capture methods in clinical context

Enrichment of LOVD-USHbases with 152 USH2A Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots

Generation of a human iPSC line, INMi005-A, from a patient with non-syndromic USH2A-associated retinitis pigmentosa

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy

Molecular Therapy for Choroideremia: Pre-clinical and Clinical Progress to Date

CRB1 -Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms

Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A

Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss

Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation

Clinical Evaluation and Cone Alterations in Choroideremia

Non-USH2A mutations in USH2 patients

Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome

USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids

EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus

A Classification Model Relative to Splicing for Variants of Unknown Clinical Significance: Application to the CFTR Gene

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