Association of Monogenic and Polygenic Risk With the Prevalence of Open-Angle Glaucoma

Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

(2021) Puya Gharahkhani et al.   Nature Communications

Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression

(2020) Jamie E. Craig et al.   NATURE GENETICS

Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma

(2020) Owen M. Siggs et al.   OPHTHALMOLOGY

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Whole Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized with Early-Onset Myocardial Infarction

(2019) Amit V. Khera et al.   CIRCULATION

Association of a Primary Open-Angle Glaucoma Genetic Risk Score With Earlier Age at Diagnosis

(2019) Bao Jian Fan et al.   JAMA Ophthalmology

Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations

(2018) Amit V. Khera et al.   NATURE GENETICS

Myocilin Gene Gln368Ter Variant Penetrance and Association With Glaucoma in Population-Based and Registry-Based Studies

(2018) Xikun Han et al.   JAMA Ophthalmology

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

Myocilin Predictive Genetic Testing for Primary Open-Angle Glaucoma Leads to Early Identification of At-Risk Individuals

(2017) Emmanuelle Souzeau et al.   OPHTHALMOLOGY

A reference panel of 64,976 haplotypes for genotype imputation

(2016)   NATURE GENETICS

Next-generation genotype imputation service and methods

(2016) Sayantan Das et al.   NATURE GENETICS

Genetic identification of familial hypercholesterolemia within a single U.S. health care system

(2016) Noura S. Abul-Husn et al.   SCIENCE

Primary open-angle glaucoma

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

Cohort profile: The QSkin Sun and Health Study

(2012) C. M. Olsen et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY