Detalhe da pesquisa
1.
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
Inglês
| MEDLINE | ID: mdl-33022222
2.
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
Inglês
| MEDLINE | ID: mdl-36524988
3.
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
Inglês
| MEDLINE | ID: mdl-34410491
4.
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
Inglês
| MEDLINE | ID: mdl-29961571
5.
A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss.
J Med Genet
; 2020 Jul 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32631815
6.
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
Inglês
| MEDLINE | ID: mdl-33799353
7.
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
Inglês
| MEDLINE | ID: mdl-34502338
8.
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
Inglês
| MEDLINE | ID: mdl-30120214
9.
Correction to: 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): 991, 2022 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-34608567
10.
Combined Single Gene Testing and Genome Sequencing as an Effective Diagnostic Approach for Anophthalmia and Microphthalmia Patients.
Genes (Basel)
; 14(8)2023 08 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37628625
11.
ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease.
Front Genet
; 14: 1234032, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37779911
12.
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Front Cell Dev Biol
; 11: 1112270, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-36819107
13.
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
HGG Adv
; 4(2): 100181, 2023 04 13.
Artigo
Inglês
| MEDLINE | ID: mdl-36785559
14.
Altered neural responsivity to food cues in relation to food preferences, but not appetite-related hormone concentrations after RYGB-surgery.
Behav Brain Res
; 353: 194-202, 2018 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30041007
15.
Explorative Placebo-Controlled Double-Blind Intervention Study with Low Doses of Inhaled Δ9-Tetrahydrocannabinol and Cannabidiol Reveals No Effect on Sweet Taste Intensity Perception and Liking in Humans.
Cannabis Cannabinoid Res
; 2(1): 114-122, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28861511
16.
Walking through apertures: do you know what you are doing during body-scaled action?
Perception
; 42(5): 583-5, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-23964384