137 results on '"Baux, David"'
Search Results
2. Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss
3. De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.
4. Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss
5. Exon identity influences splicing induced by exonic variants and in silico prediction efficacy
6. MobiDetails: online DNA variants interpretation
7. Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories
8. Validation of Nanopore long-read sequencing to resolve RPGRORF15 genotypes in individuals with X-linked retinitis pigmentosa
9. Correction: MobiDetails: online DNA variants interpretation
10. The effect of PTC124 on choroideremia fibroblasts and iPSC-derived RPE raises considerations for therapy
11. RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology
12. CFTR‐France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants
13. The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A
14. Identification of the First Single GSDME Exon 8 Structural Variants Associated with Autosomal Dominant Hearing Loss
15. Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss
16. Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations
17. High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families
18. When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report
19. Molecular screening of deafness in Algeria: High genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F
20. Enrichment of LOVD-USHbases with 152 USH2A Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots
21. Identification and in vivo functional investigation of a HOMER2nonstop variant causing hearing loss
22. Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles
23. Correction: MobiDetails: online DNA variants interpretation
24. A Classification Model Relative to Splicing for Variants of Unknown Clinical Significance: Application to the CFTR Gene
25. Non-USH2A Mutations in USH2 Patients†
26. Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy
27. MobiDetails: online DNA variants interpretation
28. SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect
29. 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
30. Nasal Epithelial Cells are a Reliable Source to Study Splicing Variants in Usher Syndrome
31. Ex Vivo Splicing Assays of Mutations at Noncanonical Positions of Splice Sites in USHER Genes
32. Missense Mutations of Conserved Glycine Residues in Fibrillin-1 Highlight a Potential Subtype of cb-EGF-like Domains
33. UMD-USHbases: A Comprehensive Set of Databases to Record and Analyse Pathogenic Mutations and Unclassified Variants in Seven Usher Syndrome Causing Genes
34. Molecular and In Silico Analyses of the Full-Length Isoform of Usherin Identify New Pathogenic Alleles in Usher Type II Patients
35. The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders
36. Reclassification of a TMC1synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss
37. The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders.
38. Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses
39. MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis
40. Mutation Databases
41. Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses.
42. Assessment of the latest NGS enrichment capture methods in clinical context
43. WholeUSH2AGene Sequencing Identifies Several New Deep Intronic Mutations
44. Enrichment of LOVD-USHbases with 152USH2AGenotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots
45. The USH2A c.2299delG mutation: dating its common origin in a Southern European population
46. Experience of targeted Usher exome sequencing as a clinical test
47. Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy
48. Four-Year Follow-up of Diagnostic Service in USH1 Patients
49. Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes
50. The USH2A c.2299delG mutation: dating its common origin in a Southern European population
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