Search details
1.
Genome-wide characterization of circulating metabolic biomarkers.
Nature
; 628(8006): 130-138, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38448586
2.
Systemic complement levels in patients with age-related macular degeneration carrying rare or low-frequency variants in the CFH gene.
Hum Mol Genet
; 31(3): 455-470, 2022 02 03.
Article
in English
| MEDLINE | ID: mdl-34508573
3.
Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration.
Am J Hum Genet
; 108(8): 1367-1384, 2021 08 05.
Article
in English
| MEDLINE | ID: mdl-34260947
4.
Study of Late-Onset Stargardt Type 1 Disease: Characteristics, Genetics, and Progression.
Ophthalmology
; 131(1): 87-97, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-37598860
5.
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.
Article
in English
| MEDLINE | ID: mdl-33022222
6.
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.
Article
in English
| MEDLINE | ID: mdl-36524988
7.
BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa.
J Med Genet
; 59(5): 438-444, 2022 05.
Article
in English
| MEDLINE | ID: mdl-33910932
8.
Fundus autofluorescence abnormalities can predict fluorescein angiography abnormalities in patients with chronic central serous chorioretinopathy.
Graefes Arch Clin Exp Ophthalmol
; 261(9): 2489-2495, 2023 Sep.
Article
in English
| MEDLINE | ID: mdl-37036511
9.
Long-term follow-up of chronic central serous chorioretinopathy patients after primary treatment of oral eplerenone or half-dose photodynamic therapy and crossover treatment: SPECTRA trial report No. 3.
Graefes Arch Clin Exp Ophthalmol
; 261(3): 659-668, 2023 Mar.
Article
in English
| MEDLINE | ID: mdl-36202933
10.
INCREASING EVIDENCE FOR THE SAFETY OF FOVEA-INVOLVING HALF-DOSE PHOTODYNAMIC THERAPY FOR CHRONIC CENTRAL SEROUS CHORIORETINOPATHY.
Retina
; 43(3): 379-388, 2023 03 01.
Article
in English
| MEDLINE | ID: mdl-36727801
11.
Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study.
Hum Mutat
; 43(5): 613-624, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35266249
12.
Effect of rare coding variants in the CFI gene on Factor I expression levels.
Hum Mol Genet
; 29(14): 2313-2324, 2020 08 11.
Article
in English
| MEDLINE | ID: mdl-32510551
13.
Family-based exome sequencing identifies rare coding variants in age-related macular degeneration.
Hum Mol Genet
; 29(12): 2022-2034, 2020 07 29.
Article
in English
| MEDLINE | ID: mdl-32246154
14.
Analysis of hemopexin plasma levels in patients with age-related macular degeneration.
Mol Vis
; 28: 536-543, 2022.
Article
in English
| MEDLINE | ID: mdl-37089696
15.
The Phenotypic Course of Age-Related Macular Degeneration for ARMS2/HTRA1: The EYE-RISK Consortium.
Ophthalmology
; 129(7): 752-764, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35240203
16.
X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients.
Ophthalmology
; 129(2): 191-202, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34624300
17.
Common and rare variants in patients with early onset drusen maculopathy.
Clin Genet
; 102(5): 414-423, 2022 11.
Article
in English
| MEDLINE | ID: mdl-36053979
18.
Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa.
J Med Genet
; 58(8): 570-578, 2021 08.
Article
in English
| MEDLINE | ID: mdl-32817297
19.
EFFICACY OF HALF-DOSE PHOTODYNAMIC THERAPY VERSUS HIGH-DENSITY SUBTHRESHOLD MICROPULSE LASER FOR TREATING PIGMENT EPITHELIAL DETACHMENTS IN CHRONIC CENTRAL SEROUS CHORIORETINOPATHY.
Retina
; 42(4): 721-729, 2022 04 01.
Article
in English
| MEDLINE | ID: mdl-34864802
20.
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.
Hum Mutat
; 42(12): 1521-1547, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34411390