Found: 22
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RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology.
- Published in:
- 2022
- By:
- Publication type:
- journal article
SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 8, p. 7330, doi. 10.3390/ijms24087330
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- Publication type:
- Article
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 24, p. 13294, doi. 10.3390/ijms222413294
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- Publication type:
- Article
Assessment of the latest NGS enrichment capture methods in clinical context.
- Published in:
- Scientific Reports, 2016, p. 20948, doi. 10.1038/srep20948
- By:
- Publication type:
- Article
The USH2A c.2299delG mutation: dating its common origin in a Southern European population.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 7, p. 788, doi. 10.1038/ejhg.2010.14
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- Publication type:
- Article
A 4.6 Mb Inversion Leading to PCDH15 - LINC00844 and BICC1 - PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00623
- By:
- Publication type:
- Article
Identification of the First Single GSDME Exon 8 Structural Variants Associated with Autosomal Dominant Hearing Loss.
- Published in:
- Diagnostics (2075-4418), 2022, v. 12, n. 1, p. 207, doi. 10.3390/diagnostics12010207
- By:
- Publication type:
- Article
When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders.
- Published in:
- Human Mutation, 2020, v. 41, n. 2, p. 375, doi. 10.1002/humu.23941
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- Publication type:
- Article
Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses.
- Published in:
- Human Mutation, 2019, v. 40, n. 1, p. 31, doi. 10.1002/humu.23671
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- Publication type:
- Article
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.
- Published in:
- Human Mutation, 2017, v. 38, n. 10, p. 1297, doi. 10.1002/humu.23276
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- Publication type:
- Article
Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations.
- Published in:
- Human Mutation, 2016, v. 37, n. 2, p. 184, doi. 10.1002/humu.22926
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- Publication type:
- Article
Enrichment of LOVD- USHbases with 152 USH2 A Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots.
- Published in:
- Human Mutation, 2014, v. 35, n. 10, p. 1179, doi. 10.1002/humu.22608
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- Publication type:
- Article
A Classification Model Relative to Splicing for Variants of Unknown Clinical Significance: Application to the CFTR Gene.
- Published in:
- Human Mutation, 2013, v. 34, n. 5, p. 774, doi. 10.1002/humu.22291
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- Publication type:
- Article
Non- USH2A mutations in USH2 patients.
- Published in:
- Human Mutation, 2012, v. 33, n. 3, p. 504, doi. 10.1002/humu.22004
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- Publication type:
- Article
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy.
- Published in:
- Human Mutation, 2012, v. 33, n. 1, p. 104, doi. 10.1002/humu.21634
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- Publication type:
- Article
Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome.
- Published in:
- Human Mutation, 2010, v. 31, n. 6, p. 734, doi. 10.1002/humu.21255
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- Publication type:
- Article
Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes.
- Published in:
- Human Mutation, 2010, v. 31, n. 3, p. 347, doi. 10.1002/humu.21193
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- Publication type:
- Article
Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains.
- Published in:
- Human Mutation, 2010, v. 31, n. 1, p. E1021, doi. 10.1002/humu.21131
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- Publication type:
- Article
UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes.
- Published in:
- Human Mutation, 2008, v. 29, n. 8, p. E76, doi. 10.1002/humu.20780
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- Publication type:
- Article
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients.
- Published in:
- Human Mutation, 2007, v. 28, n. 8, p. 781, doi. 10.1002/humu.20513
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- Publication type:
- Article