Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

(2013) Yi Lu et al.   NATURE GENETICS

Keratoconus in 18 pairs of twins

(2012) Stephen J. Tuft et al.   ACTA OPHTHALMOLOGICA

Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness

(2012) René Hoehn et al.   HUMAN GENETICS

Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance

(2011) Emma M.M. Burkitt Wright et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation Altering the miR-184 Seed Region Causes Familial Keratoconus with Cataract

(2011) Anne E. Hughes et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries

(2011) Xiaohui Li et al.   HUMAN MOLECULAR GENETICS

Blue Sclera With and Without Corneal Fragility (Brittle Cornea Syndrome) in a Consanguineous Family Harboring ZNF469 Mutation (p.E1392X)

(2010) Arif O. Khan   ARCHIVES OF OPHTHALMOLOGY

Absence of Pathogenic Mutations in VSX1 and SOD1 Genes in Patients With Keratoconus

(2010) Mirna Štabuc-Šilih et al.   CORNEA

Collagen-related genes influence the glaucoma risk factor, central corneal thickness

(2010) Eranga N. Vithana et al.   HUMAN MOLECULAR GENETICS

New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8

(2010) Veronique Vitart et al.   HUMAN MOLECULAR GENETICS

Variation across the allele frequency spectrum

(2010) Anna L Gloyn et al.   NATURE GENETICS

Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia

(2010) Christopher T Johansen et al.   NATURE GENETICS

Corneal Biomechanical Metrics and Anterior Segment Parameters in Mild Keratoconus

(2010) Bruno M. Fontes et al.   OPHTHALMOLOGY

Common Genetic Variants near the Brittle Cornea Syndrome Locus ZNF469 Influence the Blinding Disease Risk Factor Central Corneal Thickness

(2010) Yi Lu et al.   PLoS Genetics

The genetics of central corneal thickness

(2009) D. P. Dimasi et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Mutational screening of VSX1 in keratoconus patients from the European population

(2009) D P Dash et al.   EYE

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Deleterious Mutations in the Zinc-Finger 469 Gene Cause Brittle Cornea Syndrome

(2008) Almogit Abu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data

(2008) Bingshan Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The CoLaus study: a population-based study to investigate the epidemiology and genetic determinants of cardiovascular risk factors and metabolic syndrome

(2008) Mathieu Firmann et al.   BMC Cardiovascular Disorders

Evolution of C2H2-zinc finger genes and subfamilies in mammals: Species-specific duplication and loss of clusters, genes and effector domains

(2008) Hamsa D Tadepally et al.   BMC EVOLUTIONARY BIOLOGY

Penetrating keratoplasty: indications, outcomes and complications

(2008) I Rahman et al.   EYE