Detalhe da pesquisa
1.
Two novel non-coding single nucleotide variants in the DNase1 hypersensitivity site of PRDM13 causing North Carolina macular dystrophy in Korea.
Mol Vis
; 30: 58-66, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38601016
2.
Mapping the cis-regulatory architecture of the human retina reveals noncoding genetic variation in disease.
Proc Natl Acad Sci U S A
; 117(16): 9001-9012, 2020 04 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32265282
3.
Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration.
Genet Med
; 21(3): 694-704, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30072743
4.
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
5.
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
6.
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.
Genet Med
; 21(8): 1761-1771, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30670881
7.
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
8.
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
9.
Lipid nanoparticle-mediated delivery of mRNA into the mouse and human retina and other ocular tissues.
bioRxiv
; 2023 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37502987
10.
NeuroD factors regulate cell fate and neurite stratification in the developing retina.
J Neurosci
; 31(20): 7365-79, 2011 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-21593321
11.
Development and diversification of retinal amacrine interneurons at single cell resolution.
Proc Natl Acad Sci U S A
; 106(23): 9495-500, 2009 Jun 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-19470466
12.
Monocarboxylate Transporter 1 (MCT1) Mediates Succinate Export in the Retina.
Invest Ophthalmol Vis Sci
; 63(4): 1, 2022 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35363247
13.
Distinct features of brain perivascular fibroblasts and mural cells revealed by in vivo two-photon imaging.
J Cereb Blood Flow Metab
; 42(6): 966-978, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34929105
14.
Machine Learning Prediction of Non-Coding Variant Impact in Human Retinal cis-Regulatory Elements.
Transl Vis Sci Technol
; 11(4): 16, 2022 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35435921
15.
Cell-specific cis-regulatory elements and mechanisms of non-coding genetic disease in human retina and retinal organoids.
Dev Cell
; 57(6): 820-836.e6, 2022 03 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35303433
16.
Transient expression of a GABA receptor subunit during early development is critical for inhibitory synapse maturation and function.
Curr Biol
; 31(19): 4314-4326.e5, 2021 10 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34433078
17.
Gene regulatory networks controlling temporal patterning, neurogenesis, and cell-fate specification in mammalian retina.
Cell Rep
; 37(7): 109994, 2021 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34788628
18.
Chromatin Environment and Cellular Context Specify Compensatory Activity of Paralogous MEF2 Transcription Factors.
Cell Rep
; 29(7): 2001-2015.e5, 2019 11 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31722213
19.
MEF2D drives photoreceptor development through a genome-wide competition for tissue-specific enhancers.
Neuron
; 86(1): 247-63, 2015 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25801704
20.
Characterization of Foxp2 and Foxp1 mRNA and protein in the developing and mature brain.
J Comp Neurol
; 460(2): 266-79, 2003 May 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-12687690