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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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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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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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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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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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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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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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Targeted next generation sequencing for molecular diagnosis of Usher syndrome

Orphanet journal of rare diseases, 2014-11, Vol.9 (1), p.168-168, Article 168

2014

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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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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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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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Clinical utility gene card for: Usher syndrome

European journal of human genetics : EJHG, 2011-08, Vol.19 (8), p.4-4

2011

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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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SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation

Human genomics, 2023-02, Vol.17 (1), p.7-16, Article 7

2023

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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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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

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

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

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

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

Non-USH2A mutations in USH2 patients

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

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

Targeted next generation sequencing for molecular diagnosis of Usher syndrome

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

Usher syndrome in Denmark: mutation spectrum and some clinical observations

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

Clinical utility gene card for: Usher syndrome

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

SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation

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

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