The pathogenesis of keratoconus

Prevalence and Associated Factors of Keratoconus in Jerusalem: A Cross-sectional Study

(2016) Michel Millodot et al.   OPHTHALMIC EPIDEMIOLOGY

Mutations in LRPAP1 Are Associated with Severe Myopia in Humans

(2013) Mohammed A. Aldahmesh et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Next-Generation Sequencing Revolution and Its Impact on Genomics

(2013) Daniel C. Koboldt et al.   CELL

Oxidative Stress in the Pathogenesis of Keratoconus and Fuchs Endothelial Corneal Dystrophy

(2013) Katarzyna Wojcik et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

The keratoconus corneal proteome: Loss of epithelial integrity and stromal degeneration

(2013) Raghothama Chaerkady et al.   Journal of Proteomics

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

(2013) Yi Lu et al.   NATURE GENETICS

The Effect of Riboflavin/UVA Collagen Cross-linking Therapy on the Structure and Hydrodynamic Behaviour of the Ungulate and Rabbit Corneal Stroma

(2013) Sally Hayes et al.   PLoS One

Keratoconus in 18 pairs of twins

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

Documenting the Corneal Phenotype Associated with the MIR184 c.57C>T Mutation

(2012) Benjamin W. Iliff et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The point mutation and polymorphism in keratoconus candidate gene TGFBI in Chinese population

(2012) Tao Guan et al.   GENE

In-depth analysis of the human tear proteome

(2012) Lei Zhou et al.   Journal of Proteomics

Keratoconus Onset After Age 50

(2012) Lawrence R. Tenkman et al.   JOURNAL OF REFRACTIVE SURGERY

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 Prospective Study of Filaggrin Null Mutations in Keratoconus Patients with or without Atopic Disorders

(2011) C. Droitcourt et al.   DERMATOLOGY

Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus

(2011) Marta Czugala et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Differential epithelial and stromal protein profiles in keratoconus and normal human corneas

(2011) R. Joseph et al.   EXPERIMENTAL EYE RESEARCH

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

Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus

(2011) Sulaiman M Al-Mayouf et al.   NATURE GENETICS

Subnormal Cytokine Profile in the Tear Fluid of Keratoconus Patients

(2011) Albert S. Jun et al.   PLoS One

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

(2010) Mirna Štabuc-Šilih et al.   CORNEA

Missing heritability and strategies for finding the underlying causes of complex disease

(2010) Evan E. Eichler et al.   NATURE REVIEWS GENETICS

Corneal elasticity and ocular rigidity in normal and keratoconic eyes

(2009) Carsten Edmund   ACTA OPHTHALMOLOGICA

Biochemical studies of normal and keratoconus corneas

(2009) Hans Oxlund et al.   ACTA OPHTHALMOLOGICA

The genetics of central corneal thickness

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

Subclinical keratoconus and inflammatory molecules from tears

(2009) I Lema et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Corneal dystrophies

(2009) Gordon K Klintworth   Orphanet Journal of Rare Diseases

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

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

Disease severity and family history in keratoconus

(2008) L Szczotka-Flynn et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

(2008) Mark I. McCarthy et al.   NATURE REVIEWS GENETICS

Genetic Mapping in Human Disease

(2008) D. Altshuler et al.   SCIENCE