Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia

Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration

(2019) Rinki Ratnapriya et al.   NATURE GENETICS

Ocular albinism with infertility and late-onset sensorineural hearing loss

(2018) Bjørn K. Fabian-Jessing et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Transcriptome analysis of adult and fetal trabecular meshwork, cornea, and ciliary body tissues by RNA sequencing

(2018) Megan Ulmer Carnes et al.   EXPERIMENTAL EYE RESEARCH

Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

(2018) Milly S. Tedja et al.   NATURE GENETICS

Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability

(2018) Pirro G. Hysi et al.   NATURE GENETICS

Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma

(2018) Anthony P. Khawaja et al.   NATURE GENETICS

Mixed-model association for biobank-scale datasets

(2018) Po-Ru Loh et al.   NATURE GENETICS

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

(2018) Hilary K. Finucane et al.   NATURE GENETICS

Circadian rhythms, refractive development, and myopia

(2018) Ranjay Chakraborty et al.   OPHTHALMIC AND PHYSIOLOGICAL OPTICS

Education and myopia: assessing the direction of causality by mendelian randomisation

(2018) Edward Mountjoy et al.   BMJ-British Medical Journal

Education and myopia: assessing the direction of causality by mendelian randomisation

(2018) Edward Mountjoy et al.   BMJ-British Medical Journal

Estimation of complex effect-size distributions using summary-level statistics from genome-wide association studies across 32 complex traits

(2018) Yan Zhang et al.   NATURE GENETICS

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

(2018) Annalisa Buniello et al.   NUCLEIC ACIDS RESEARCH

Global, regional, and national incidence, prevalence, and years lived with disability for 328 diseases and injuries for 195 countries, 1990–2016: a systematic analysis for the Global Burden of Disease Study 2016

(2017) Theo Vos et al.   LANCET

Detection and interpretation of shared genetic influences on 42 human traits

(2016) Joseph K Pickrell et al.   NATURE GENETICS

Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets

(2016) Zhihong Zhu et al.   NATURE GENETICS

The statistical properties of gene-set analysis

(2016) Christiaan A. de Leeuw et al.   NATURE REVIEWS GENETICS

Genotyping Informatics and Quality Control for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort

(2015) Mark N. Kvale et al.   GENETICS

Characterizing Race/Ethnicity and Genetic Ancestry for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort

(2015) Yambazi Banda et al.   GENETICS

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

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

An atlas of genetic correlations across human diseases and traits

(2015) Brendan Bulik-Sullivan et al.   NATURE GENETICS

LD Score regression distinguishes confounding from polygenicity in genome-wide association studies

(2015) Brendan K Bulik-Sullivan et al.   NATURE GENETICS

Increasing Prevalence of Myopia in Europe and the Impact of Education

(2015) Katie M. Williams et al.   OPHTHALMOLOGY

Frequency and Distribution of Refractive Error in Adult Life: Methodology and Findings of the UK Biobank Study

(2015) Phillippa M. Cumberland et al.   PLoS One

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

(2015) Masahiro Miyake et al.   Nature Communications

Genotyping Informatics and Quality Control for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort

(2015) Mark N. Kvale et al.   GENETICS

Characterizing Race/Ethnicity and Genetic Ancestry for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort

(2015) Yambazi Banda et al.   GENETICS

minimac2: faster genotype imputation

(2014) Christian Fuchsberger et al.   BIOINFORMATICS

Defining the role of common variation in the genomic and biological architecture of adult human height

(2014) Andrew R Wood et al.   NATURE GENETICS

Quality control and conduct of genome-wide association meta-analyses

(2014) Thomas W Winkler et al.   Nature Protocols

Wnt Signaling in Form Deprivation Myopia of the Mice Retina

(2014) Mingming Ma et al.   PLoS One

Homeobox Genes and Melatonin Synthesis: Regulatory Roles of the Cone-Rod Homeobox Transcription Factor in the Rodent Pineal Gland

(2014) Kristian Rohde et al.   Biomed Research International

Cohort Profile: A prospective cohort study of objective physical and cognitive capability and visual health in an ageing population of men and women in Norfolk (EPIC-Norfolk 3)

(2013) Shabina A Hayat et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Childhood intelligence is heritable, highly polygenic and associated with FNBP1L

(2013) B Benyamin et al.   MOLECULAR PSYCHIATRY

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

(2013) Virginie J M Verhoeven et al.   NATURE GENETICS

Systematic identification of trans eQTLs as putative drivers of known disease associations

(2013) Harm-Jan Westra et al.   NATURE GENETICS

1000 Genomes Selection Browser 1.0: a genome browser dedicated to signatures of natural selection in modern humans

(2013) Marc Pybus et al.   NUCLEIC ACIDS RESEARCH

Outdoor Activity during Class Recess Reduces Myopia Onset and Progression in School Children

(2013) Pei-Chang Wu et al.   OPHTHALMOLOGY

Genome-Wide Analysis Points to Roles for Extracellular Matrix Remodeling, the Visual Cycle, and Neuronal Development in Myopia

(2013) Amy K. Kiefer et al.   PLoS Genetics

Common Mechanisms Underlying Refractive Error Identified in Functional Analysis of Gene Lists From Genome-Wide Association Study Results in 2 European British Cohorts

(2013) Pirro G. Hysi et al.   JAMA Ophthalmology

Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits

(2012) Jian Yang et al.   NATURE GENETICS

Refractive profile in oculocutaneous albinism and its correlation with final visual outcome

(2011) Claudia Yahalom et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

A linear complexity phasing method for thousands of genomes

(2011) Olivier Delaneau et al.   NATURE METHODS

GCTA: A Tool for Genome-wide Complex Trait Analysis

(2010) Jian Yang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

METAL: fast and efficient meta-analysis of genomewide association scans

(2010) C. J. Willer et al.   BIOINFORMATICS

Common SNPs explain a large proportion of the heritability for human height

(2010) Jian Yang et al.   NATURE GENETICS

The Heritability of Ocular Traits

(2010) Paul G. Sanfilippo et al.   SURVEY OF OPHTHALMOLOGY

Common Inherited Variation in Mitochondrial Genes Is Not Enriched for Associations with Type 2 Diabetes or Related Glycemic Traits

(2010) Ayellet V. Segrè et al.   PLoS Genetics

TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness

(2009) Isabelle Audo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar Cell Function and Cause Complete Congenital Stationary Night Blindness in Humans

(2009) Zheng Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Null Mutations in LTBP2 Cause Primary Congenital Glaucoma

(2009) Manir Ali et al.   AMERICAN JOURNAL OF HUMAN GENETICS

LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients

(2009) J Oliveira et al.   CLINICAL GENETICS

A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies

(2009) Bryan N. Howie et al.   PLoS Genetics

Estimation of significance thresholds for genomewide association scans

(2008) Frank Dudbridge et al.   GENETIC EPIDEMIOLOGY

Estimation of the multiple testing burden for genomewide association studies of nearly all common variants

(2008) Itsik Pe'er et al.   GENETIC EPIDEMIOLOGY

L-DOPA Is an Endogenous Ligand for OA1

(2008) Vanessa M Lopez et al.   PLOS BIOLOGY

Negative regulation of Vsx1 by its paralog Chx10/Vsx2 is conserved in the vertebrate retina

(2007) Anna M. Clark et al.   BRAIN RESEARCH