Detalhe da pesquisa
1.
Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis.
Am J Med Genet A
; 191(4): 1007-1012, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36595661
2.
Identification of numerous novel disease-causing variants in patients with inherited retinal diseases, combining careful clinical-functional phenotyping with systematic, broad NGS panel-based genotyping.
Mol Vis
; 28: 203-219, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36284670
3.
Response to Cody.
Genet Med
; 22(1): 236-237, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31395943
4.
Increasing evidence of combinatory variant effects calls for revised classification of low-penetrance alleles.
Genet Med
; 21(6): 1280-1282, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30385887
5.
CHOROIDEREMIA ASSOCIATED WITH A NOVEL SYNONYMOUS MUTATION IN GENE ENCODING REP-1.
Retin Cases Brief Rep
; 12 Suppl 1: S67-S71, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29045269
6.
Development of High-Throughput Clinical Testing of RPGR ORF15 Using a Large Inherited Retinal Dystrophy Cohort.
Invest Ophthalmol Vis Sci
; 59(11): 4434-4440, 2018 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30193314