A new perspective on the genetics of keratoconus: why have we not been more successful?

A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q

(2017) Fabio Sirchia et al.   European Journal of Medical Genetics

Evidence againstZNF469being causative for keratoconus in Polish patients

(2016) Justyna A. Karolak et al.   ACTA OPHTHALMOLOGICA

Variants in SKP1, PROB1 and IL17B genes at keratoconus 5q31.1–q35.3 susceptibility locus identified by whole-exome sequencing

(2016) Justyna A Karolak et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System

(2016) Manou Sommen et al.   HUMAN MUTATION

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing

(2016) Alan S. Ma et al.   HUMAN MUTATION

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

The Association Between Sociodemographic Factors, Common Systemic Diseases, and Keratoconus

(2016) Maria A. Woodward et al.   OPHTHALMOLOGY

Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing

(2016) Kari Branham et al.   PHYSIOLOGICAL GENOMICS

Global Survey of Corneal Transplantation and Eye Banking

(2016) Philippe Gain et al.   JAMA Ophthalmology

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

(2016) Michel Millodot et al.   OPHTHALMIC EPIDEMIOLOGY

Two novel missense substitutions in the VSX1 gene: clinical and genetic analysis of families with Keratoconus from India

(2015) Rohit Shetty et al.   BMC Medical Genetics

Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions

(2015) Darío G. Lupiáñez et al.   CELL

Polymorphism of the APEX nuclease 1 gene in keratoconus and Fuchs endothelial corneal dystrophy

(2015) Katarzyna A. Wojcik et al.   CELLULAR & MOLECULAR BIOLOGY LETTERS

Evaluation of Possible Relationship Between COL4A4 Gene Polymorphisms and Risk of Keratoconus

(2015) Ramin Saravani et al.   CORNEA

WNT10A exonic variant increases the risk of keratoconus by decreasing corneal thickness

(2015) Gabriel Cuellar-Partida et al.   HUMAN MOLECULAR GENETICS

Brittle Cornea Syndrome ZNF469 Mutation Carrier Phenotype and Segregation Analysis of Rare ZNF469 Variants in Familial Keratoconus

(2015) A. E. Davidson et al.   INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Risk factors for keratoconus in Israel: a case-control study

(2015) Ariela Gordon-Shaag et al.   OPHTHALMIC AND PHYSIOLOGICAL OPTICS

Evaluating the Association between Keratoconus and Reported Genetic Loci in a Han Chinese Population

(2015) Xiao-Dan Hao et al.   OPHTHALMIC GENETICS

Identification of myopia-associated WNT7B polymorphisms provides insights into the mechanism underlying the development of myopia

(2015) Masahiro Miyake et al.   Nature Communications

Segregation analysis suggests that keratoconus is a complex non-mendelian disease

(2014) Ágnes Kriszt et al.   ACTA OPHTHALMOLOGICA

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

(2014) Judith Lechner et al.   HUMAN MOLECULAR GENETICS

CMPK1 and RBP3 are associated with corneal curvature in Asian populations

(2014) Peng Chen et al.   HUMAN MOLECULAR GENETICS

Polymorphism of the DNA Base Excision Repair Genes in Keratoconus

(2014) Katarzyna Wojcik et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Polymorphism of the Flap Endonuclease 1 Gene in Keratoconus and Fuchs Endothelial Corneal Dystrophy

(2014) Katarzyna Wojcik et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

The prevalence of keratoconus in a young population in Mashhad, Iran

(2014) Hassan Hashemi et al.   OPHTHALMIC AND PHYSIOLOGICAL OPTICS

Polymorphism Analysis ofCOL4A3andCOL4A4Genes in Greek Patients with Keratoconus

(2014) Nikolaos S. Kokolakis et al.   OPHTHALMIC GENETICS

Copy number variants are a common cause of non-syndromic hearing loss

(2014) A Shearer et al.   Genome Medicine

Study ofVSX1Mutations in Patients with Keratoconus in Southwest Iran Using PCR-Single-Strand Conformation Polymorphism/Heteroduplex Analysis and Sequencing Method

(2013) Fatemeh Azadegan Dehkordi et al.   ACTA CYTOLOGICA

The Genetic Landscapes of Autism Spectrum Disorders

(2013) Guillaume Huguet et al.   Annual Review of Genomics and Human Genetics

Prevalence of Keratoconus in a Population-based Study in Shahroud

(2013) Hassan Hashemi et al.   CORNEA

Relationship Between IL1β-511C>T and ILRN VNTR Polymorphisms and Keratoconus

(2013) Melis Palamar et al.   CORNEA

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

(2013) Marianne Rohrbach et al.   MOLECULAR GENETICS AND METABOLISM

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

(2013) Yi Lu et al.   NATURE GENETICS

The NHGRI GWAS Catalog, a curated resource of SNP-trait associations

(2013) Danielle Welter et al.   NUCLEIC ACIDS RESEARCH

Topographic Keratoconus is not Rare in an Iranian population: The Tehran Eye Study

(2013) Hassan Hashemi et al.   OPHTHALMIC EPIDEMIOLOGY

Polymorphism Analysis ofVSX1andSOD1Genes in Greek Patients with Keratoconus

(2013) Marilita M. Moschos et al.   OPHTHALMIC GENETICS

Common Single Nucleotide Polymorphisms and Keratoconus in the Han Chinese Population

(2013) Yani Wang et al.   OPHTHALMIC GENETICS

C.57 C > T Mutation in MIR 184 is Responsible for Congenital Cataracts and Corneal Abnormalities in a Five-generation Family from Galicia, Spain

(2013) Yelena Bykhovskaya et al.   OPHTHALMIC GENETICS

Is Consanguinity a Risk Factor for Keratoconus?

(2013) Ariela Gordon-Shaag et al.   OPTOMETRY AND VISION SCIENCE

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

VSX1 Gene and Keratoconus

(2012) Jin Wook Jeoung et al.   CORNEA

Detection and interpretation of genomic structural variation in health and disease

(2012) Geert Vandeweyer et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

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

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

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

Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes

(2011) Jill A. Rosenfeld et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Association of variants in FRAP1 and PDGFRA with corneal curvature in Asian populations from Singapore

(2011) Siyu Han et al.   HUMAN MOLECULAR 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

Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans

(2011) Loïc de Pontual et al.   NATURE GENETICS

Evidence for Keratoconus Susceptibility Locus on Chromosome 14

(2010) Petra Liskova   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

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

Prevalence and Associations of Keratoconus in Rural Maharashtra in Central India: The Central India Eye and Medical Study

(2009) Jost B. Jonas et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Prevalence of Orbscan II corneal abnormalities in relatives of patients with keratoconus

(2009) Timothy M Steele et al.   CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

Three VSX1 Gene Mutations, L159M, R166W, and H244R, Are Not Associated With Keratoconus

(2009) Yongming G Tang et al.   CORNEA

Mutational screening of VSX1 in keratoconus patients from the European population

(2009) D P Dash et al.   EYE

Disease severity and family history in keratoconus

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

Topographic Evaluation of Relatives of Patients With Keratoconus

(2008) Farid Karimian et al.   CORNEA

Evaluation of Corneal Topography With Orbscan II in First-degree Relatives of Patients With Keratoconus

(2008) Vedat Kaya et al.   CORNEA

Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci

(2008) Kathryn P. Burdon et al.   HUMAN GENETICS

Confocal microscopy identification of keratoconus associated with posterior polymorphous corneal dystrophy

(2008) Cosimo Mazzotta et al.   JOURNAL OF CATARACT AND REFRACTIVE SURGERY

VSX1 gene variants are associated with keratoconus in unrelated Korean patients

(2008) Jee-Won Mok et al.   JOURNAL OF HUMAN GENETICS

The D144E Substitution in theVSX1Gene: A Non-pathogenic Variant or a Disease Causing Mutation?

(2008) Pras Eran et al.   OPHTHALMIC GENETICS

The Evidentiary Significance of Case Reports: Eye Rubbing and Keratoconus

(2008) CHARLES W. MCMONNIES   OPTOMETRY AND VISION SCIENCE