Genomic strategies to understand causes of keratoconus

Evidence againstZNF469being causative for keratoconus in Polish patients

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

Mutational Analysis of Pre-miR-184 and hsa-mir-568 in Greek Patients With Sporadic Keratoconus

(2016) Marilita M. Moschos et al.   CORNEA

Association between Family History and Keratoconus Severity

(2016) Mohammad Naderan et al.   CURRENT EYE RESEARCH

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

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

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

(2015) Ramin Saravani et al.   CORNEA

Keratoconus: an inflammatory disorder?

(2015) V Galvis et al.   EYE

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

Unrevealed mosaicism in the next-generation sequencing era

(2015) Marzena Gajecka   MOLECULAR GENETICS AND GENOMICS

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

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

Inflammation and Keratoconus

(2015) Charles W. McMonnies   OPTOMETRY AND VISION SCIENCE

Screening of the Seed Region ofMIR184in Keratoconus Patients from Saudi Arabia

(2015) Khaled K. Abu-Amero et al.   Biomed Research International

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

(2014) Ágnes Kriszt et al.   ACTA OPHTHALMOLOGICA

Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy

(2014) Maria Carolina Ortube et al.   BMC Medical Genetics

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

(2014) Judith Lechner et al.   HUMAN MOLECULAR GENETICS

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

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

Somatic Mutations in Cerebral Cortical Malformations

(2014) Saumya S. Jamuar et al.   NEW ENGLAND JOURNAL OF MEDICINE

Polymorphism Analysis ofCOL4A3andCOL4A4Genes in Greek Patients with Keratoconus

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

Molecular Screening of Keratoconus Susceptibility Sequence Variants inVSX1, TGFBI, DOCK9, STK24, andIPO5Genes in Polish Patients and NovelTGFBIVariant Identification

(2014) Justyna A. Karolak et al.   OPHTHALMIC GENETICS

Association ofLysyl oxidase (LOX)Polymorphisms with the Risk of Keratoconus in an Iranian Population

(2014) Farzaneh Hasanian-Langroudi et al.   OPHTHALMIC GENETICS

Linkage Analysis of High-density SNPs Confirms Keratoconus Locus at 5q Chromosomal Region

(2014) Yelena Bykhovskaya et al.   OPHTHALMIC GENETICS

Analysis of theSOD1Gene in Keratoconus Patients from Saudi Arabia

(2014) Abdulrahman M. Al-Muammar et al.   OPHTHALMIC GENETICS

Association of the Hepatocyte Growth Factor Gene with Keratoconus in an Australian Population

(2014) Srujana Sahebjada et al.   PLoS One

Polymorphisms of the Apoptosis-Related FAS and FAS Ligand Genes in Keratoconus and Fuchs Endothelial Corneal Dystrophy

(2014) Ewelina Synowiec et al.   TOHOKU JOURNAL OF EXPERIMENTAL 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

Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing

(2013) Yong-hui Jiang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Next-Generation Sequencing Revolution and Its Impact on Genomics

(2013) Daniel C. Koboldt et al.   CELL

Insights into keratoconus from a genetic perspective

(2013) Kathryn P Burdon et al.   Clinical and Experimental Optometry

An Association Between the Calpastatin (CAST) Gene and Keratoconus

(2013) Xiaohui Li et al.   CORNEA

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

(2013) Melis Palamar et al.   CORNEA

Polymorphisms of the Homologous Recombination GeneRAD51in Keratoconus and Fuchs Endothelial Corneal Dystrophy

(2013) Ewelina Synowiec et al.   DISEASE MARKERS

Increased systemic oxidative stress in patients with keratoconus

(2013) I Toprak et al.   EYE

Exome sequencing reveals CCDC111 mutation associated with high myopia

(2013) Fuxin Zhao et al.   HUMAN GENETICS

Genetic and genomic perspective to understand the molecular pathogenesis of keratoconus

(2013) Rohit Shetty et al.   INDIAN JOURNAL OF OPHTHALMOLOGY

Epidemiology of keratoconus

(2013) NikhilS Gokhale   INDIAN JOURNAL OF OPHTHALMOLOGY

Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis

(2013) Vincent José Soler et al.   JOURNAL OF MEDICAL GENETICS

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

(2013) Yi Lu et al.   NATURE GENETICS

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

Exome Sequencing of 47 Chinese Families with Cone-Rod Dystrophy: Mutations in 25 Known Causative Genes

(2013) Li Huang et al.   PLoS One

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

(2013) K. M. Nishiguchi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Polymorphism of the Transferrin Gene in Eye Diseases: Keratoconus and Fuchs Endothelial Corneal Dystrophy

(2013) Katarzyna A. Wójcik et al.   Biomed Research International

Keratoconus in 18 pairs of twins

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

VSX1 Gene and Keratoconus

(2012) Jin Wook Jeoung et al.   CORNEA

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

(2012) Tao Guan et al.   GENE

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

An in depth analysis of histopathological characteristics found in keratoconus

(2012) E. Sykakis et al.   PATHOLOGY

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

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

Quantified Histopathology of the Keratoconic Cornea

(2011) Jessica H. Mathew et al.   OPTOMETRY AND VISION SCIENCE

Subnormal Cytokine Profile in the Tear Fluid of Keratoconus Patients

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

Evidence for Keratoconus Susceptibility Locus on Chromosome 14

(2010) Petra Liskova   ARCHIVES OF OPHTHALMOLOGY

Combined anterior keratoconus and Fuchs' endothelial dystrophy: a report of two cases

(2010) Ramin Salouti et al.   Clinical and Experimental Optometry

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

Genomewide Association Studies and Assessment of the Risk of Disease

(2010) Teri A. Manolio   NEW ENGLAND JOURNAL OF MEDICINE

Rare Variants Create Synthetic Genome-Wide Associations

(2010) Samuel P. Dickson et al.   PLOS BIOLOGY

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

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

(2009) Yongming G Tang et al.   CORNEA

Mechanisms of Rubbing-Related Corneal Trauma in Keratoconus

(2009) Charles W McMonnies   CORNEA

Mutational screening of VSX1 in keratoconus patients from the European population

(2009) D P Dash et al.   EYE

Human genetic variation recognizes functional elements in noncoding sequence

(2009) D. Lomelin et al.   GENOME RESEARCH

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS GENETICS

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

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

The IC3D Classification of the Corneal Dystrophies

(2008)   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

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