Detalhe da pesquisa
1.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-36217948
2.
Trio-based exome sequencing arrests de novo mutations in early-onset high myopia.
Proc Natl Acad Sci U S A
; 114(16): 4219-4224, 2017 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-28373534
3.
Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.
Genet Epidemiol
; 39(3): 207-16, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25631615
4.
A genome-wide association study of intra-ocular pressure suggests a novel association in the gene FAM125B in the TwinsUK cohort.
Hum Mol Genet
; 23(12): 3343-8, 2014 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24518671
5.
A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2.
Hum Mol Genet
; 23(4): 1108-19, 2014 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24105470
6.
Mutations in SCO2 are associated with autosomal-dominant high-grade myopia.
Am J Hum Genet
; 92(5): 820-6, 2013 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23643385
7.
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
Am J Hum Genet
; 93(2): 264-77, 2013 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-24144296
8.
Genetic variants on chromosome 1q41 influence ocular axial length and high myopia.
PLoS Genet
; 8(6): e1002753, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22685421
9.
Common genetic determinants of intraocular pressure and primary open-angle glaucoma.
PLoS Genet
; 8(5): e1002611, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22570627
10.
Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis.
J Med Genet
; 50(4): 246-54, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23349227
11.
Genome-wide meta-analysis of five Asian cohorts identifies PDGFRA as a susceptibility locus for corneal astigmatism.
PLoS Genet
; 7(12): e1002402, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22144915
12.
Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes.
Mol Vis
; 19: 759-66, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23592912
13.
Interrogation of the platelet-derived growth factor receptor alpha locus and corneal astigmatism in Australians of Northern European ancestry: results of a genome-wide association study.
Mol Vis
; 19: 1238-46, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23761726
14.
Genetic contributions to myopic refractive error: Insights from human studies and supporting evidence from animal models.
Exp Eye Res
; 114: 141-9, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23379998
15.
Whole genome expression profiling of normal human fetal and adult ocular tissues.
Exp Eye Res
; 116: 265-78, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24016867
16.
Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness.
PLoS Genet
; 6(5): e1000947, 2010 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-20485516
17.
Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
PLoS Genet
; 6(10): e1001184, 2010 Oct 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-21060863
18.
Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci.
Nat Genet
; 55(7): 1116-1125, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37386247
19.
Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.
Hum Mol Genet
; 19(13): 2716-24, 2010 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20395239
20.
Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium.
Hum Genet
; 131(9): 1467-80, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22665138