Search details
1.
Polygenic Risk Scores Driving Clinical Change in Glaucoma.
Annu Rev Genomics Hum Genet
; 2024 Apr 10.
Article
in English
| MEDLINE | ID: mdl-38599222
2.
High throughput functional profiling of genes at intraocular pressure loci reveals distinct networks for glaucoma.
Hum Mol Genet
; 33(9): 739-751, 2024 Apr 18.
Article
in English
| MEDLINE | ID: mdl-38272457
3.
Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?
Am J Hum Genet
; 110(1): 170-176, 2023 01 05.
Article
in English
| MEDLINE | ID: mdl-36565701
4.
Automated AI labeling of optic nerve head enables insights into cross-ancestry glaucoma risk and genetic discovery in >280,000 images from UKB and CLSA.
Am J Hum Genet
; 108(7): 1204-1216, 2021 07 01.
Article
in English
| MEDLINE | ID: mdl-34077762
5.
Correction: Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images.
PLoS Genet
; 17(10): e1009858, 2021 Oct.
Article
in English
| MEDLINE | ID: mdl-34662343
6.
Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images.
PLoS Genet
; 17(5): e1009497, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33979322
7.
Mitochondrial TXNRD2 and ME3 Genetic Risk Scores Are Associated with Specific Primary Open-Angle Glaucoma Phenotypes.
Ophthalmology
; 130(7): 756-763, 2023 Jul.
Article
in English
| MEDLINE | ID: mdl-36813040
8.
High Polygenic Risk Is Associated with Earlier Initiation and Escalation of Treatment in Early Primary Open-Angle Glaucoma.
Ophthalmology
; 130(8): 830-836, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37044160
9.
Genetic Risk Assessment of Degenerative Eye Disease (GRADE): study protocol of a prospective assessment of polygenic risk scores to predict diagnosis of glaucoma and age-related macular degeneration.
BMC Ophthalmol
; 23(1): 431, 2023 Oct 24.
Article
in English
| MEDLINE | ID: mdl-37875865
10.
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel.
Hum Mutat
; 43(12): 2170-2186, 2022 12.
Article
in English
| MEDLINE | ID: mdl-36217948
11.
Clinical Outcome and Underlying Genetic Cause of Functional Terminal Complement Pathway Deficiencies in a Multicenter UK Cohort.
J Clin Immunol
; 42(3): 665-671, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35084692
12.
The phenotypic spectrum of ADAMTSL4-associated ectopia lentis: Additional cases, complications, and review of literature.
Mol Vis
; 28: 257-268, 2022.
Article
in English
| MEDLINE | ID: mdl-36284667
13.
The effect of insulin on response to intravitreal anti-VEGF injection in diabetic macular edema in type 2 diabetes mellitus.
BMC Ophthalmol
; 22(1): 94, 2022 Feb 28.
Article
in English
| MEDLINE | ID: mdl-35227220
14.
Quantification of localised vascular wedge-shaped defects in glaucoma.
Clin Exp Ophthalmol
; 50(7): 724-735, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35796092
15.
Identifying Genetic Biomarkers Predicting Response to Anti-Vascular Endothelial Growth Factor Injections in Diabetic Macular Edema.
Int J Mol Sci
; 23(7)2022 Apr 06.
Article
in English
| MEDLINE | ID: mdl-35409401
16.
A novel GSN variant outside the G2 calcium-binding domain associated with Amyloidosis of the Finnish type.
Hum Mutat
; 42(7): 818-826, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33973672
17.
Exome-based investigation of the genetic basis of human pigmentary glaucoma.
BMC Genomics
; 22(1): 477, 2021 Jun 26.
Article
in English
| MEDLINE | ID: mdl-34174832
18.
Genome-wide association analysis of 95 549 individuals identifies novel loci and genes influencing optic disc morphology.
Hum Mol Genet
; 28(21): 3680-3690, 2019 11 01.
Article
in English
| MEDLINE | ID: mdl-31809533
19.
Non-Synonymous variants in premelanosome protein (PMEL) cause ocular pigment dispersion and pigmentary glaucoma.
Hum Mol Genet
; 28(8): 1298-1311, 2019 04 15.
Article
in English
| MEDLINE | ID: mdl-30561643
20.
Cardiovascular Disease Predicts Structural and Functional Progression in Early Glaucoma.
Ophthalmology
; 128(1): 58-69, 2021 01.
Article
in English
| MEDLINE | ID: mdl-32730956