Detalhe da pesquisa
1.
Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.
Hum Mol Genet
; 33(2): 150-169, 2024 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37815931
2.
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation.
Hum Genomics
; 17(1): 7, 2023 02 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36765386
3.
Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories.
Int J Mol Sci
; 24(8)2023 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37108493
4.
CHM mutation spectrum and disease: An update at the time of human therapeutic trials.
Hum Mutat
; 42(4): 323-341, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33538369
5.
SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.
Brain
; 143(8): 2380-2387, 2020 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32658972
6.
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.
Int J Mol Sci
; 22(24)2021 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34948090
7.
CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms.
Int J Mol Sci
; 22(23)2021 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34884448
8.
The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders.
Hum Mutat
; 41(2): 375-386, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31674704
9.
PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT.
Retina
; 40(8): 1603-1615, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31479088
10.
Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses.
Hum Mutat
; 40(1): 31-35, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30341801
11.
Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss.
Hum Mutat
; 40(12): 2286-2295, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31397523
12.
Pathogenicity of a novel missense variant associated with choroideremia and its impact on gene replacement therapy.
Hum Mol Genet
; 26(18): 3573-3584, 2017 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28911202
13.
Mutation of SLC9A1, encoding the major Naâº/H⺠exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome.
Hum Mol Genet
; 24(2): 463-70, 2015 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25205112
14.
Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations.
Hum Mutat
; 37(2): 184-93, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26629787
15.
HGVS Recommendations for the Description of Sequence Variants: 2016 Update.
Hum Mutat
; 37(6): 564-9, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26931183
16.
Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.
Hum Mutat
; 35(10): 1179-86, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24944099
17.
Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa.
Mol Vis
; 20: 1398-410, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25352746
18.
A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene.
Hum Mutat
; 34(5): 774-84, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23381846
19.
The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort.
Mol Vis
; 19: 367-73, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23441107
20.
Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss.
Eur J Hum Genet
; 31(7): 834-840, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37173411