Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

(2015) Axel Freischmidt et al.   NATURE NEUROSCIENCE

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

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Meta-analysis of Genome-wide Association Studies Identifies 1q22 as a Susceptibility Locus for Intracerebral Hemorrhage

(2014) Daniel Woo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

minimac2: faster genotype imputation

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Conserved recurrent gene mutations correlate with pathway deregulation and clinical outcomes of lung adenocarcinoma in never-smokers

(2014) Zhifu Sun et al.   BMC Medical Genomics

O-GlcNAc Modification of Transcription Factor Sp1 Mediates Hyperglycemia-Induced VEGF-A Upregulation in Retinal Cells

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The Pathophysiology and Treatment of Glaucoma

(2014) Robert N. Weinreb et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

REST and stress resistance in ageing and Alzheimer’s disease

(2014) Tao Lu et al.   NATURE

Gene-gene and gene-environment interactions detected by transcriptome sequence analysis in twins

(2014) Alfonso Buil et al.   NATURE GENETICS

Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma

(2014) Puya Gharahkhani et al.   NATURE GENETICS

Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

(2014) Pirro G Hysi et al.   NATURE GENETICS

Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma

(2014) Yuhong Chen et al.   NATURE GENETICS

Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders

(2014) S. Lattante et al.   NEUROLOGY

Global Prevalence of Glaucoma and Projections of Glaucoma Burden through 2040

(2014) Yih-Chung Tham et al.   OPHTHALMOLOGY

Dysfunction of the stress-responsive FOXC1 transcription factor contributes to the earlier-onset glaucoma observed in Axenfeld-Rieger syndrome patients

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Discovery and Functional Annotation of SIX6 Variants in Primary Open-Angle Glaucoma

(2014) Megan Ulmer Carnes et al.   PLoS Genetics

Genome-wide association study and meta-analysis of intraocular pressure

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Ensembl 2014

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Oxidative stress and mitochondrial dysfunction in glaucoma

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Annotation of functional variation in personal genomes using RegulomeDB

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Mapping cis- and trans-regulatory effects across multiple tissues in twins

(2012) Elin Grundberg et al.   NATURE GENETICS

Fast and accurate genotype imputation in genome-wide association studies through pre-phasing

(2012) Bryan Howie et al.   NATURE GENETICS

Common Genetic Determinants of Intraocular Pressure and Primary Open-Angle Glaucoma

(2012) Leonieke M. E. van Koolwijk et al.   PLoS Genetics

Common Variants at 9p21 and 8q22 Are Associated with Increased Susceptibility to Optic Nerve Degeneration in Glaucoma

(2012) Janey L. Wiggs et al.   PLoS Genetics

Evolutionary relationships and diversification of barhl genes within retinal cell lineages

(2011) Laura-Nadine Schuhmacher et al.   BMC EVOLUTIONARY BIOLOGY

Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1

(2011) Kathryn P Burdon et al.   NATURE GENETICS

HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants

(2011) L. D. Ward et al.   NUCLEIC ACIDS RESEARCH

A User's Guide to the Encyclopedia of DNA Elements (ENCODE)

(2011)   PLOS BIOLOGY

Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy

(2011) Olga Gorlova et al.   PLoS Genetics

Estrogen Receptor Beta Gene Polymorphism and Intraocular Pressure Elevation in Female Patients With Primary Open-Angle Glaucoma

(2010) Fumihiko Mabuchi et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Prevalence of Glaucoma in North China: The Beijing Eye Study

(2010) Ya Xing Wang et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Genevar: a database and Java application for the analysis and visualization of SNP-gene associations in eQTL studies

(2010) T.-P. Yang et al.   BIOINFORMATICS

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

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

ProbABEL package for genome-wide association analysis of imputed data

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Genome-wide association identifies ATOH7 as a major gene determining human optic disc size

(2010) Stuart Macgregor et al.   HUMAN MOLECULAR GENETICS

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma

(2010) Gudmar Thorleifsson et al.   NATURE GENETICS

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(2010) M. Safran et al.   Database-The Journal of Biological Databases and Curation

Four Novel Loci (19q13, 6q24, 12q24, and 5q14) Influence the Microcirculation In Vivo

(2010) M. Kamran Ikram et al.   PLoS Genetics

SCAN: SNP and copy number annotation

(2009) Eric R. Gamazon et al.   BIOINFORMATICS

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

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