Detalhe da pesquisa
1.
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.
J Med Genet
; 61(2): 186-195, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37734845
2.
Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms.
Hum Mol Genet
; 31(5): 761-774, 2022 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34559197
3.
A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect.
Hum Mol Genet
; 30(13): 1218-1229, 2021 06 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33891002
4.
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
5.
DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophy.
J Med Genet
; 59(10): 1027-1034, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35091433
6.
Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.
Int J Mol Sci
; 24(10)2023 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37240262
7.
Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy.
Int J Mol Sci
; 24(3)2023 Jan 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-36769033
8.
Genome-Wide Association Study Identifies Two Common Loci Associated with Pigment Dispersion Syndrome/Pigmentary Glaucoma and Implicates Myopia in its Development.
Ophthalmology
; 129(6): 626-636, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35031440
9.
Molecular Properties of Human Guanylate Cyclase-Activating Protein 3 (GCAP3) and Its Possible Association with Retinitis Pigmentosa.
Int J Mol Sci
; 23(6)2022 Mar 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35328663
10.
A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability.
Int J Mol Sci
; 23(4)2022 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35216386
11.
A deep intronic substitution in CNGB3 is one of the major causes of achromatopsia among Jewish patients.
Mol Vis
; 27: 588-600, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34703197
12.
Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants.
Int J Mol Sci
; 22(10)2021 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34065499
13.
X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in RPGR.
Int J Mol Sci
; 22(2)2021 Jan 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33467000
14.
Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense Variant.
Int J Mol Sci
; 22(4)2021 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33669876
15.
Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa.
Int J Mol Sci
; 22(5)2021 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33673512
16.
Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period.
Hum Mutat
; 41(9): 1514-1527, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32531858
17.
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
Hum Mutat
; 41(1): 255-264, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31544997
18.
First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy - a case report.
BMC Med Genet
; 21(1): 236, 2020 11 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33243194
19.
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy.
Clin Genet
; 97(3): 426-436, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31721179
20.
Dysfunction of cGMP signalling in photoreceptors by a macular dystrophy-related mutation in the calcium sensor GCAP1.
Hum Mol Genet
; 26(1): 133-144, 2017 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28025326