Detalhe da pesquisa
1.
Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.
Genet Med
; 26(6): 101106, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38420906
2.
Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan.
Exp Eye Res
; 244: 109945, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38815792
3.
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.
Genet Med
; 25(3): 100345, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36524988
4.
Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients.
HGG Adv
; 5(3): 100314, 2024 May 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38816995
5.
Combined Single Gene Testing and Genome Sequencing as an Effective Diagnostic Approach for Anophthalmia and Microphthalmia Patients.
Genes (Basel)
; 14(8)2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37628625
6.
ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease.
Front Genet
; 14: 1234032, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37779911