Search details
1.
Lack of evidence for GWAS signals of exfoliation glaucoma working via monogenic loss-of-function mutation in the nearest gene.
Hum Mol Genet
; 2024 May 20.
Article
in English
| MEDLINE | ID: mdl-38770563
2.
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
3.
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
4.
Recombinant adenovirus causes prolonged mobilization of macrophages in the anterior chambers of mice.
Mol Vis
; 27: 741-756, 2021.
Article
in English
| MEDLINE | ID: mdl-35136346
5.
Nanophthalmos patient with a THR518MET mutation in MYRF, a case report.
BMC Ophthalmol
; 20(1): 388, 2020 Oct 01.
Article
in English
| MEDLINE | ID: mdl-33004036
6.
CRISPR-Cas9-based treatment of myocilin-associated glaucoma.
Proc Natl Acad Sci U S A
; 114(42): 11199-11204, 2017 10 17.
Article
in English
| MEDLINE | ID: mdl-28973933
7.
Primary congenital and developmental glaucomas.
Hum Mol Genet
; 26(R1): R28-R36, 2017 08 01.
Article
in English
| MEDLINE | ID: mdl-28549150
8.
Transgenic TBK1 mice have features of normal tension glaucoma.
Hum Mol Genet
; 26(1): 124-132, 2017 01 01.
Article
in English
| MEDLINE | ID: mdl-28025332
9.
Progressive optic nerve changes in cavitary optic disc anomaly: integration of copy number alteration and cis-expression quantitative trait loci to assess disease etiology.
BMC Med Genet
; 20(1): 63, 2019 04 27.
Article
in English
| MEDLINE | ID: mdl-31029096
10.
The Effect of Insurance Coverage Laws on Glaucoma Eyedrop Medication Usage.
Ophthalmology
; 131(4): 507-509, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38142821
11.
Mendelian genes in primary open angle glaucoma.
Exp Eye Res
; 186: 107702, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31238079
12.
LADD syndrome with glaucoma is caused by a novel gene.
Mol Vis
; 23: 179-184, 2017.
Article
in English
| MEDLINE | ID: mdl-28400699
13.
Genetics and genetic testing for glaucoma.
Curr Opin Ophthalmol
; 28(2): 133-138, 2017 Mar.
Article
in English
| MEDLINE | ID: mdl-27898466
14.
MMP19 expression in the human optic nerve.
Mol Vis
; 22: 1429-1436, 2016.
Article
in English
| MEDLINE | ID: mdl-28003733
15.
Glaucoma Risk Alleles in the Ocular Hypertension Treatment Study.
Ophthalmology
; 123(12): 2527-2536, 2016 12.
Article
in English
| MEDLINE | ID: mdl-27707548
16.
North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.
Ophthalmology
; 123(1): 9-18, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26507665
17.
Heterozygous triplication of upstream regulatory sequences leads to dysregulation of matrix metalloproteinase 19 in patients with cavitary optic disc anomaly.
Hum Mutat
; 36(3): 369-78, 2015 Mar.
Article
in English
| MEDLINE | ID: mdl-25581579
18.
Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos.
Mol Vis
; 21: 1017-23, 2015.
Article
in English
| MEDLINE | ID: mdl-26392740
19.
High Iris Insertion in Axenfeld-Rieger Syndrome.
Ophthalmology
; 127(6): 768, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32444018
20.
Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.
PLoS Genet
; 8(10): e1003001, 2012.
Article
in English
| MEDLINE | ID: mdl-23055945