Detalhe da pesquisa
1.
Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease.
PLoS Genet;
20(5): e1011230, 2024 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38713708
2.
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy.
Proc Natl Acad Sci U S A;
119(27): e2115538119, 2022 07 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35759666
3.
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
4.
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.
Ophthalmology;
130(4): 413-422, 2023 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36423731
5.
Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene.
Ophthalmology;
130(1): 68-76, 2023 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35934205
6.
Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.
Am J Hum Genet;
102(3): 447-459, 2018 03 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29499165
7.
Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity.
Am J Hum Genet;
102(4): 528-539, 2018 04 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29526280
8.
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.
Am J Hum Genet;
100(2): 334-342, 2017 Feb 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28132693
9.
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.
Am J Hum Genet;
100(4): 592-604, 2017 Apr 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28285769
10.
Arl3 and RP2 regulate the trafficking of ciliary tip kinesins.
Hum Mol Genet;
26(13): 2480-2492, 2017 07 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28444310
11.
Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis.
Am J Hum Genet;
99(6): 1338-1352, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27839872
12.
Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2.
Am J Hum Genet;
98(1): 75-89, 2016 Jan 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26749309
13.
Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.
Am J Hum Genet;
99(6): 1305-1315, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27889058
14.
CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeat.
Genet Med;
21(9): 2092-2102, 2019 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30733599
15.
Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen.
Ophthalmology;
126(10): 1410-1421, 2019 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30905644
16.
The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis.
Exp Eye Res;
182: 160-166, 2019 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30851240
17.
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.
Hum Mutat;
39(1): 80-91, 2018 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28967191
18.
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.
Bioinformatics;
33(15): 2421-2423, 2017 Aug 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28334266
19.
Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa.
Mol Vis;
24: 603-612, 2018.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30210231
20.
Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene.
BMC Ophthalmol;
18(1): 250, 2018 Sep 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30223810