Mutation screening of 17 candidate genes in a cohort of 67 probands with early‐onset high myopia

CPSF1 mutations are associated with early-onset high myopia and involved in retinal ganglion cell axon projection

(2019) Jiamin Ouyang et al.   HUMAN MOLECULAR GENETICS

Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12–q13.3

(2019) Xueshan Xiao et al.   HUMAN GENETICS

TNFRSF21 mutations cause high myopia

(2019) Hong Pan et al.   JOURNAL OF MEDICAL GENETICS

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

Mutations in DZIP1 and XYLT1 are associated with nonsyndromic early onset high myopia in the Korean population

(2017) Jong-Keuk Lee et al.   OPHTHALMIC GENETICS

Trio-based exome sequencing arrests de novo mutations in early-onset high myopia

(2017) Zi-Bing Jin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutational screening of SLC39A5, LEPREL1 and LRPAP1 in a cohort of 187 high myopia patients

(2017) Chun-Yun Feng et al.   Scientific Reports

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

(2016) Nilah M. Ioannidis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

(2015) Yongwook Choi et al.   BIOINFORMATICS

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

(2015) Hui Guo et al.   GENETICS IN MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

ACMG guides on the interpretation of sequence variants

(2015) Orli G. Bahcall   NATURE REVIEWS GENETICS

Detection of Mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 Families With Early-Onset High Myopia by Exome Sequencing

(2014) D. Jiang et al.   INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

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

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

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

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

Exome sequencing reveals CCDC111 mutation associated with high myopia

(2013) Fuxin Zhao et al.   HUMAN GENETICS

Crystal structure of the entire respiratory complex I

(2013) Rozbeh Baradaran et al.   NATURE

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

Cone-Rod Dysfunction Is a Sign of Early-Onset High Myopia

(2013) Panfeng Wang et al.   OPTOMETRY AND VISION SCIENCE

Tracing the tail of ubiquinone in mitochondrial complex I

(2012) Heike Angerer et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium

(2012) Virginie J. M. Verhoeven et al.   HUMAN GENETICS

Myopia

(2012) Ian G Morgan et al.   LANCET

SIFT web server: predicting effects of amino acid substitutions on proteins

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

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

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

Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega

(2011) F. Sievers et al.   Molecular Systems Biology

Exome Sequencing Identifies ZNF644 Mutations in High Myopia

(2011) Yi Shi et al.   PLoS Genetics

Concordance rates for myopia in twins

(2010) Jon L. Karlsson   CLINICAL GENETICS

Using SIFT and PolyPhen to Predict Loss-of-Function and Gain-of-Function Mutations

(2010) Sarah E. Flanagan et al.   Genetic Testing and Molecular Biomarkers

A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25

(2010) Pirro G Hysi et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Retinal and choroidal TGF-β in the tree shrew model of myopia: Isoform expression, activation and effects on function

(2008) Andrew Ian Jobling et al.   EXPERIMENTAL EYE RESEARCH