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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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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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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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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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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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Non-USH2A mutations in USH2 patients

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

2012

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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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HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Human mutation, 2016-06, Vol.37 (6), p.564-569

2016

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Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes

Human mutation, 2010-03, Vol.31 (3), p.347-355

2010

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Experience of targeted Usher exome sequencing as a clinical test

Molecular genetics & genomic medicine, 2014-01, Vol.2 (1), p.30-43

2014

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Molecular and in silico analyses of the full‐length isoform of usherin identify new pathogenic alleles in Usher type II patients

Human mutation, 2007-08, Vol.28 (8), p.781-789

2007

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Usher syndrome in Denmark: mutation spectrum and some clinical observations

Molecular genetics & genomic medicine, 2016-09, Vol.4 (5), p.527-539

2016

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Four-year follow-up of diagnostic service in USH1 patients

Investigative ophthalmology & visual science, 2011-06, Vol.52 (7), p.4063-4071

2011

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Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome

Human mutation, 2010-06, Vol.31 (6), p.734-741

2010

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UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes

Human mutation, 2008-08, Vol.29 (8), p.E76-E87

2008

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Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice-sites

Human mutation, 2009-09, Vol.30 (9), p.1329-1339

2009

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The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort

Molecular vision, 2013-02, Vol.19, p.367-73

2013

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PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

The Journal of clinical investigation, 2010-06, Vol.120 (6), p.1812-1823

2010

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Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss

Human mutation, 2019-12, Vol.40 (12), p.2286-2295

2019

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Natural history of Usher type 2 with the c.2299delG mutation of USH2A in a large cohort

Ophthalmic genetics, 2022-08, Vol.43 (4), p.1-475

2022

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Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome

Molecular vision, 2007-01, Vol.13, p.102-107

2007

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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

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

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

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

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

Non-USH2A mutations in USH2 patients

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

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes

Experience of targeted Usher exome sequencing as a clinical test

Molecular and in silico analyses of the full‐length isoform of usherin identify new pathogenic alleles in Usher type II patients

Usher syndrome in Denmark: mutation spectrum and some clinical observations

Four-year follow-up of diagnostic service in USH1 patients

Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome

UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes

Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice-sites

The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss

Natural history of Usher type 2 with the c.2299delG mutation of USH2A in a large cohort

Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome

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