Detalhe da pesquisa
1.
The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.
Hum Genet
; 143(5): 721-734, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38691166
2.
Analysis of Rotterdam Study cohorts confirms a previously identified RIPOR2 in-frame deletion as a prevalent genetic factor in phenotypically variable adult-onset hearing loss (DFNA21) in the Netherlands.
J Med Genet
; 60(11): 1061-1066, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37164627
3.
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss.
Hum Mol Genet
; 30(19): 1785-1796, 2021 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34059922
4.
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.
Am J Hum Genet
; 107(5): 802-814, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33022222
5.
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.
Genet Med
; 25(3): 100345, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36524988
6.
Novel gene discovery for hearing loss and other routes to increased diagnostic rates.
Hum Genet
; 141(3-4): 383-386, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34599370
7.
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.
Hum Genet
; 141(3-4): 465-484, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34410491
8.
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants.
Hum Genet
; 141(11): 1723-1738, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35226187
9.
Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations.
Mol Ther
; 29(8): 2441-2455, 2021 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33895329
10.
Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A.
Int J Mol Sci
; 23(21)2022 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36362125
11.
MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.
Am J Hum Genet
; 103(1): 74-88, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29961571
12.
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
Genet Med
; 23(11): 2208-2212, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34230634
13.
A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss.
J Med Genet
; 2020 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32631815
14.
The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss.
Int J Mol Sci
; 22(6)2021 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-33799353
15.
Efficient Generation of Knock-In Zebrafish Models for Inherited Disorders Using CRISPR-Cas9 Ribonucleoprotein Complexes.
Int J Mol Sci
; 22(17)2021 Aug 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34502338
16.
Zebrafish as a Model to Evaluate a CRISPR/Cas9-Based Exon Excision Approach as a Future Treatment Option for EYS-Associated Retinitis Pigmentosa.
Int J Mol Sci
; 22(17)2021 Aug 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34502064
17.
Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases.
Int J Mol Sci
; 22(12)2021 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34203967
18.
De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.
Hum Genet
; 138(1): 61-72, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30535804
19.
Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis.
Genet Med
; 21(5): 1199-1208, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30287925
20.
Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa.
J Med Genet
; 55(10): 705-712, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30120214