Detalhe da pesquisa
1.
CLEC3B is a novel causative gene for macular-retinal dystrophy.
Genet Med
; 24(6): 1249-1260, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35331648
2.
Mutation spectrum and genotype-phenotype correlation of inherited retinal dystrophy in Taiwan.
Clin Exp Ophthalmol
; 48(4): 486-499, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31872526
3.
Functional characterization of CEP250 variant identified in nonsyndromic retinitis pigmentosa.
Hum Mutat
; 40(8): 1039-1045, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30998843
4.
Genetic control of DNA methylation is largely shared across European and East Asian populations.
Nat Commun
; 15(1): 2713, 2024 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38548728
5.
Rationale and protocol paper for the Asia Pacific Network for inherited eye diseases.
Asia Pac J Ophthalmol (Phila)
; 13(1): 100030, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38233300
6.
Exome sequencing in retinal dystrophy patients reveals a novel candidate gene ER membrane protein complex subunit 3.
Heliyon
; 9(9): e20146, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37809982
7.
Global spectrum of USH2A mutation in inherited retinal dystrophies: Prompt message for development of base editing therapy.
Front Aging Neurosci
; 14: 948279, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36034145
8.
Second hit impels oncogenesis of retinoblastoma in patient-induced pluripotent stem cell-derived retinal organoids: direct evidence for Knudson's theory.
PNAS Nexus
; 1(4): pgac162, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-36714839
9.
Mutation of SLC7A14 causes auditory neuropathy and retinitis pigmentosa mediated by lysosomal dysfunction.
Sci Adv
; 8(14): eabk0942, 2022 04 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35394837
10.
Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy.
Orphanet J Rare Dis
; 16(1): 278, 2021 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34130719
11.
Whole-Exome Sequencing in a Cohort of High Myopia Patients in Northwest China.
Front Cell Dev Biol
; 9: 645501, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34222226
12.
Genotype Profile of Global EYS-Associated Inherited Retinal Dystrophy and Clinical Findings in a Large Chinese Cohort.
Front Cell Dev Biol
; 9: 634220, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34178978
13.
Genetic Screening Revealed Latent Keratoconus in Asymptomatic Individuals.
Front Cell Dev Biol
; 9: 650344, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34136477
14.
Genotype-Phenotype Analysis and Mutation Spectrum in a Cohort of Chinese Patients With Congenital Nystagmus.
Front Cell Dev Biol
; 9: 627295, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33732697
15.
Nonhuman Primate Model of Oculocutaneous Albinism with TYR and OCA2 Mutations.
Research (Wash D C)
; 2020: 1658678, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32259106
16.
Relationship Between Cone Loss and Microvasculature Change in Retinitis Pigmentosa.
Invest Ophthalmol Vis Sci
; 60(14): 4520-4531, 2019 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31675423
17.
Slc7a14 Is Indispensable in Zebrafish Retinas.
Front Cell Dev Biol
; 7: 333, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31921845