Detalhe da pesquisa
1.
Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation.
PLoS Genet
; 19(2): e1010587, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36848389
2.
GWAS on retinal vasculometry phenotypes.
PLoS Genet
; 19(2): e1010583, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36757925
3.
Retinal GABAergic Alterations in Adults with Autism Spectrum Disorder.
J Neurosci
; 44(14)2024 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38467434
4.
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
5.
Electrical responses from human retinal cone pathways associate with a common genetic polymorphism implicated in myopia.
Proc Natl Acad Sci U S A
; 119(21): e2119675119, 2022 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35594404
6.
A genome-wide analysis of 340 318 participants identifies four novel loci associated with the age of first spectacle wear.
Hum Mol Genet
; 31(17): 3012-3019, 2022 08 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35220419
7.
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
8.
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
9.
Unusual OCT findings in a patient with CABP4-associated cone-rod synaptic disorder.
Doc Ophthalmol
; 148(2): 115-120, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38206458
10.
Cone-driven strong flash electroretinograms in healthy adults: Prevalence of negative waveforms.
Doc Ophthalmol
; 148(1): 25-36, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37924416
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.
The diagnostic accuracy of photopic negative responses evoked by broadband and chromatic stimuli in a clinically heterogeneous population.
Doc Ophthalmol
; 147(3): 165-177, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37889400
15.
Human retinal dark adaptation tracked in vivo with the electroretinogram: insights into processes underlying recovery of cone- and rod-mediated vision.
J Physiol
; 600(21): 4603-4621, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35612091
16.
X-Linked Retinoschisis: Deep Phenotyping and Genetic Characterization.
Ophthalmology
; 129(5): 542-551, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34822951
17.
Genome-Wide Association Study Identifies Two Common Loci Associated with Pigment Dispersion Syndrome/Pigmentary Glaucoma and Implicates Myopia in its Development.
Ophthalmology
; 129(6): 626-636, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35031440
18.
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
19.
New variants and in silico analyses in GRK1 associated Oguchi disease.
Hum Mutat
; 42(2): 164-176, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33252155
20.
Photophobia in migraine: A symptom cluster?
Cephalalgia
; 41(11-12): 1240-1248, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33990148