Detalhe da pesquisa
1.
Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction.
Am J Hum Genet
; 111(2): 393-402, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38272031
2.
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.
Hum Mol Genet
; 32(4): 595-607, 2023 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36084042
3.
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy.
Proc Natl Acad Sci U S A
; 119(27): e2115538119, 2022 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35759666
4.
A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype.
Hum Mol Genet
; 31(8): 1263-1277, 2022 04 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34726233
5.
Best Vitelliform Macular Dystrophy Natural History Study Report 1: Clinical Features and Genetic Findings.
Ophthalmology
; 2024 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38278445
6.
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.
J Med Genet
; 60(8): 810-818, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36669873
7.
ATF6 is essential for human cone photoreceptor development.
Proc Natl Acad Sci U S A
; 118(39)2021 09 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34561305
8.
Disease-Causing TIMP3 Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation.
Int J Mol Sci
; 25(7)2024 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38612555
9.
AAV-RPGR Gene Therapy Rescues Opsin Mislocalisation in a Human Retinal Organoid Model of RPGR-Associated X-Linked Retinitis Pigmentosa.
Int J Mol Sci
; 25(3)2024 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38339118
10.
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.
Am J Hum Genet
; 107(5): 802-814, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33022222
11.
Prognostication in Stargardt Disease Using Fundus Autofluorescence: Improving Patient Care.
Ophthalmology
; 130(11): 1182-1190, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37331482
12.
Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management.
Ophthalmology
; 130(12): 1327-1335, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37544434
13.
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.
Ophthalmology
; 130(4): 413-422, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36423731
14.
A demonstration of cone function plasticity after gene therapy in achromatopsia.
Brain
; 145(11): 3803-3815, 2022 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35998912
15.
Artificial intelligence in retinal disease: clinical application, challenges, and future directions.
Graefes Arch Clin Exp Ophthalmol
; 261(11): 3283-3297, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37160501
16.
Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study.
Hum Mutat
; 43(5): 613-624, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35266249
17.
X-Linked Retinoschisis: Deep Phenotyping and Genetic Characterization.
Ophthalmology
; 129(5): 542-551, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34822951
18.
Long-term vision outcomes for patients with albinism and diabetic retinopathy.
Graefes Arch Clin Exp Ophthalmol
; 260(7): 2165-2173, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35072785
19.
CNGB1-related rod-cone dystrophy: A mutation review and update.
Hum Mutat
; 42(6): 641-666, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33847019
20.
Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials.
Ophthalmology
; 128(5): 706-718, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33039401