Detalhe da pesquisa
1.
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
Cell
; 159(1): 200-214, 2014 Sep 25.
Artigo
Inglês
| MEDLINE | ID: mdl-25259927
2.
Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.
PLoS Genet
; 18(3): e1010129, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35353811
3.
Targeted long-read sequencing identifies missing disease-causing variation.
Am J Hum Genet
; 108(8): 1436-1449, 2021 08 05.
Artigo
Inglês
| MEDLINE | ID: mdl-34216551
4.
Cis-acting modifiers in the ABCA4 locus contribute to the penetrance of the major disease-causing variant in Stargardt disease.
Hum Mol Genet
; 30(14): 1293-1304, 2021 06 26.
Artigo
Inglês
| MEDLINE | ID: mdl-33909047
5.
Mapping the cis-regulatory architecture of the human retina reveals noncoding genetic variation in disease.
Proc Natl Acad Sci U S A
; 117(16): 9001-9012, 2020 04 21.
Artigo
Inglês
| MEDLINE | ID: mdl-32265282
6.
The human ATP-binding cassette (ABC) transporter superfamily.
Hum Mutat
; 43(9): 1162-1182, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35642569
7.
Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy.
N Engl J Med
; 381(15): 1422-1433, 2019 10 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31509666
8.
Systems genomics in age-related macular degeneration.
Exp Eye Res
; 225: 109248, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36108770
9.
Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease.
Am J Hum Genet
; 102(4): 517-527, 2018 04 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29526278
10.
Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family.
Proc Natl Acad Sci U S A
; 115(19): E4433-E4442, 2018 05 08.
Artigo
Inglês
| MEDLINE | ID: mdl-29686068
11.
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.
Am J Hum Genet
; 100(4): 592-604, 2017 Apr 06.
Artigo
Inglês
| MEDLINE | ID: mdl-28285769
12.
A non-retinoid antagonist of retinol-binding protein 4 rescues phenotype in a model of Stargardt disease without inhibiting the visual cycle.
J Biol Chem
; 293(29): 11574-11588, 2018 07 20.
Artigo
Inglês
| MEDLINE | ID: mdl-29871924
13.
Photoreceptor cells as a source of fundus autofluorescence in recessive Stargardt disease.
J Neurosci Res
; 97(1): 98-106, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29701254
14.
A case-control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants.
Genet Med
; 21(10): 2336-2344, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-30926958
15.
CLINICAL CHARACTERIZATION OF STARGARDT DISEASE PATIENTS WITH THE p.N1868I ABCA4 MUTATION.
Retina
; 39(12): 2311-2325, 2019 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-30204727
16.
Re: Agrón et al.: Reticular pseudodrusen status, ARMS2/HTRA1 genotype, and geographic atrophy enlargement: Age-Related Eye Disease Study 2 Report 32. (Ophthalmology. 2022;129:1107-1119).
Ophthalmology
; 130(7): e26-e27, 2023 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-37115124
17.
The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.
Ophthalmology
; 125(1): 89-99, 2018 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28947085
18.
Glaucomatous Optic Neuropathy Associated with Nocturnal Dip in Blood Pressure: Findings from the Maracaibo Aging Study.
Ophthalmology
; 125(6): 807-814, 2018 06.
Artigo
Inglês
| MEDLINE | ID: mdl-29310962
19.
Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.
J Med Genet
; 54(6): 404-412, 2017 06.
Artigo
Inglês
| MEDLINE | ID: mdl-28446513
20.
HYPERREFLECTIVE DEPOSITION IN THE BACKGROUND OF ADVANCED STARGARDT DISEASE.
Retina
; 38(11): 2214-2219, 2018 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-29028687