Detalhe da pesquisa
1.
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy.
Am J Hum Genet
; 109(11): 2029-2048, 2022 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36243009
2.
A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1).
Mol Vis
; 27: 518-527, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34526759
3.
Correction: Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.
Genet Med
; 21(8): 1998, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30297699
4.
Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.
Genet Med
; 21(4): 1028, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30607024
5.
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.
Genet Med
; 21(6): 1319-1329, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30377383
6.
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.
Genet Med
; 20(2): 202-213, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28749477
7.
Comparative 3D genome analysis between neural retina and retinal pigment epithelium reveals differential cis-regulatory interactions at retinal disease loci.
Genome Biol
; 25(1): 123, 2024 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38760655
8.
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.
Genome Med
; 16(1): 7, 2024 Jan 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38184646
9.
New Noncoding Base Pair Mutation at the Identical Locus as the Original NCMD/MCDR1 in a Mexican Family, Suggesting a Mutational Hotspot.
J Vitreoretin Dis
; 7(1): 33-42, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37008391
10.
Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant.
Sci Rep
; 11(1): 117, 2021 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33420188
11.
Functional characterization of a novel non-coding mutation "Ghent +49A > G" in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome.
Sci Rep
; 7(1): 18025, 2017 12 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-29269865