Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia

SLC39A5mutations interfering with the BMP/TGF-β pathway in non-syndromic high myopia

(2014) Hui Guo et al.   JOURNAL OF MEDICAL GENETICS

Prevalence of myopia and association with education in Europe

(2014) Katie M Williams et al.   LANCET

Prevalence of myopia in school children in greater Beijing: the Beijing Childhood Eye Study

(2013) Qi Sheng You et al.   ACTA OPHTHALMOLOGICA

Mutations in LRPAP1 Are Associated with Severe Myopia in Humans

(2013) Mohammed A. Aldahmesh et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in SCO2 Are Associated with Autosomal-Dominant High-Grade Myopia

(2013) Khanh-Nhat Tran-Viet et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Homozygous loss-of-function mutation of theLEPREL1gene causes severe non-syndromic high myopia with early-onset cataract

(2013) H. Guo et al.   CLINICAL GENETICS

Exome sequencing reveals CCDC111 mutation associated with high myopia

(2013) Fuxin Zhao et al.   HUMAN GENETICS

A genome-wide meta-analysis identifies two novel loci associated with high myopia in the Han Chinese population

(2013) Y. Shi et al.   HUMAN MOLECULAR GENETICS

Genome-wide association study identifies ZFHX1B as a susceptibility locus for severe myopia

(2013) Chiea Chuen Khor et al.   HUMAN MOLECULAR GENETICS

Causes of vision loss worldwide, 1990–2010: a systematic analysis

(2013) Rupert R A Bourne et al.   Lancet Global Health

Myopia

(2012) Ian G Morgan et al.   LANCET

High Myopia Caused by a Mutation in LEPREL1, Encoding Prolyl 3-Hydroxylase 2

(2011) Shikma Mordechai et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome Sequencing Identifies ZNF644 Mutations in High Myopia

(2011) Yi Shi et al.   PLoS Genetics

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

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

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

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Prolyl 4-hydroxylases, key enzymes in the synthesis of collagens and regulation of the response to hypoxia, and their roles as treatment targets

(2008) Johanna Myllyharju   ANNALS OF MEDICINE