Genome-wide analysis identified 17 new loci influencing intraocular pressure in Chinese population

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

Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma

(2018) Stuart MacGregor et al.   NATURE GENETICS

Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy

(2018) Johannes Birtel et al.   Scientific Reports

Crk proteins transduce FGF signaling to promote lens fiber cell elongation

(2018) Tamica N Collins et al.   eLife

Pressure-induced expression changes in segmental flow regions of the human trabecular meshwork

(2017) Janice A. Vranka et al.   EXPERIMENTAL EYE RESEARCH

HS3ST1 genotype regulates antithrombin's inflammomodulatory tone and associates with atherosclerosis

(2017) Nicole C. Smits et al.   MATRIX BIOLOGY

A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure

(2017) Hélène Choquet et al.   Nature Communications

Prenatal ethanol exposure in mice phenocopiesCdonmutation by impeding Shh function in the etiology of optic nerve hypoplasia

(2016) Benjamin M. Kahn et al.   Disease Models & Mechanisms

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

(2016) Jessica N Cooke Bailey et al.   NATURE GENETICS

Next-generation genotype imputation service and methods

(2016) Sayantan Das et al.   NATURE GENETICS

Primary open-angle glaucoma

(2016) Robert N. Weinreb et al.   Nature Reviews Disease Primers

Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement

(2015) Mohammed E. El-Asrag et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Extracellular matrix in the trabecular meshwork: Intraocular pressure regulation and dysregulation in glaucoma

(2015) Janice A. Vranka et al.   EXPERIMENTAL EYE RESEARCH

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

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

Two enzymes catalyze vitamin K 2,3-epoxide reductase activity in mouse: VKORC1 is highly expressed in exocrine tissues while VKORC1L1 is highly expressed in brain

(2015) Michael Caspers et al.   THROMBOSIS RESEARCH

The Pathophysiology and Treatment of Glaucoma

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

A draft map of the human proteome

(2014) Min-Sik Kim et al.   NATURE

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

DRK/DOS/SOS converge with Crk/Mbc/dCed-12 to activate Rac1 during glial engulfment of axonal debris

(2014) T.-Y. Lu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2013) A. Bilge Ozel et al.   HUMAN GENETICS

Using networks to measure similarity between genes: association index selection

(2013) Juan I Fuxman Bass et al.   NATURE METHODS

GeneMANIA Prediction Server 2013 Update

(2013) Khalid Zuberi et al.   NUCLEIC ACIDS RESEARCH

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human

(2012) Nathalie Roux-Buisson et al.   HUMAN MOLECULAR GENETICS

Improved whole-chromosome phasing for disease and population genetic studies

(2012) Olivier Delaneau et al.   NATURE METHODS

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

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

Genomic inflation factors under polygenic inheritance

(2011) Jian Yang et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Human Vitamin K 2,3-Epoxide Reductase Complex Subunit 1-like 1 (VKORC1L1) Mediates Vitamin K-dependent Intracellular Antioxidant Function

(2011) Philipp Westhofen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The expression of damage-regulated autophagy modulator 2 (DRAM2) contributes to autophagy induction

(2011) Jung-Ho Yoon et al.   MOLECULAR BIOLOGY REPORTS

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

(2011) Caroline Rooryck et al.   NATURE GENETICS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

The STRING database in 2011: functional interaction networks of proteins, globally integrated and scored

(2010) D. Szklarczyk et al.   NUCLEIC ACIDS RESEARCH

The Heritability of Ocular Traits

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

Triadin Deletion Induces Impaired Skeletal Muscle Function

(2009) Sarah Oddoux et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

(2009) Da Wei Huang et al.   Nature Protocols

Extracellular matrix in the trabecular meshwork

(2008) Ted S. Acott et al.   EXPERIMENTAL EYE RESEARCH