Detalhe da pesquisa
1.
Whole genome sequencing of 4,787 individuals identifies gene-based rare variants in age-related macular degeneration.
Hum Mol Genet
; 33(4): 374-385, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37934784
2.
The Role of Gene Expression Regulation on Genetic Risk of Age-Related Macular Degeneration.
Adv Exp Med Biol
; 1415: 61-66, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37440015
3.
A mega-analysis of expression quantitative trait loci in retinal tissue.
PLoS Genet
; 16(9): e1008934, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32870927
4.
Family-based exome sequencing identifies rare coding variants in age-related macular degeneration.
Hum Mol Genet
; 29(12): 2022-2034, 2020 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32246154
5.
Making Biological Sense of Genetic Studies of Age-Related Macular Degeneration.
Adv Exp Med Biol
; 1256: 201-219, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33848003
6.
Genome-wide analysis of disease progression in age-related macular degeneration.
Hum Mol Genet
; 27(5): 929-940, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29346644
7.
A unique PRDM13-associated variant in a Georgian Jewish family with probable North Carolina macular dystrophy and the possible contribution of a unique CFH variant.
Mol Vis
; 26: 299-310, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32476814
8.
REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival.
Hum Mol Genet
; 26(12): 2218-2230, 2017 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28369466
9.
Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss.
Am J Hum Genet
; 99(3): 777-784, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27588452
10.
Association of age-related macular degeneration with complement activation products, smoking, and single nucleotide polymorphisms in South Carolinians of European and African descent.
Mol Vis
; 25: 79-92, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30820144
11.
No CFH or ARMS2 Interaction with Omega-3 Fatty Acids, Low versus High Zinc, or ß-Carotene versus Lutein and Zeaxanthin on Progression of Age-Related Macular Degeneration in the Age-Related Eye Disease Study 2: Age-Related Eye Disease Study 2 Report No. 18.
Ophthalmology
; 126(11): 1541-1548, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31358387
12.
Applications of Genomic Technologies in Retinal Degenerative Diseases.
Adv Exp Med Biol
; 1185: 281-285, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31884625
13.
A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma.
Hum Mol Genet
; 25(7): 1382-91, 2016 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26908622
14.
Association of Rare Predicted Loss-of-Function Variants in Cellular Pathways with Sub-Phenotypes in Age-Related Macular Degeneration.
Ophthalmology
; 125(3): 398-406, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29224928
15.
A Deep Phenotype Association Study Reveals Specific Phenotype Associations with Genetic Variants in Age-related Macular Degeneration: Age-Related Eye Disease Study 2 (AREDS2) Report No. 14.
Ophthalmology
; 125(4): 559-568, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29096998
16.
Progression of Geographic Atrophy in Age-related Macular Degeneration: AREDS2 Report Number 16.
Ophthalmology
; 125(12): 1913-1928, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30060980
17.
Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.
Ophthalmology
; 124(7): 992-1003, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28412069
18.
Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.
Hum Mol Genet
; 23(21): 5827-37, 2014 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24899048
19.
Increased retinal mtDNA damage in the CFH variant associated with age-related macular degeneration.
Exp Eye Res
; 145: 269-277, 2016 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26854823
20.
Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.
Hum Mutat
; 36(9): 836-41, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26077327