☆ 4.4 Review

Gene-environment interaction in myopia

OPHTHALMIC AND PHYSIOLOGICAL OPTICS (2023)

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Article Ophthalmology

Normative data and percentile curves for axial length and axial length/corneal curvature in Chinese children and adolescents aged 4-18 years

Xiangui He et al.

Summary: This study developed age-specific and gender-specific reference percentile charts for axial length (AL) and AL/corneal radius of curvature (AL/CR), which can be used to determine probability of myopia, estimate refractive error (RE), and identify and monitor individuals at risk of myopia. The accuracy of these percentile charts was validated using an independent sample of children's eyes. The results showed a high concordance between the estimated and actual measurements.

BRITISH JOURNAL OF OPHTHALMOLOGY (2023)

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Article Medicine, General & Internal

A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration

Rosie Clark et al.

Summary: This study aimed to predict the risk of high myopia (HM) through an improved polygenic score (PGS) and test if the PGS is predictive of myopic macular degeneration (MMD) after considering refractive error. The study found that PGS can predict the risk of HM in Europeans, but its predictive ability is weaker in other populations.

EBIOMEDICINE (2023)

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Article Biochemistry & Molecular Biology

Whole exome sequence analysis in 51 624 participants identifies novel genes and variants associated with refractive error and myopia

Jeremy A. Guggenheim et al.

Summary: Refractive errors are associated with various pathological conditions and have a genetic component. This study identified novel candidate genes associated with refractive error and specific variants associated with refractive error type and age of spectacle wear. However, the study also highlighted the limitations of community-based WES studies compared to high myopia case-control WES studies.

HUMAN MOLECULAR GENETICS (2022)

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Article Biochemistry & Molecular Biology

Assessing the contribution of genetic nurture to refractive error

Jeremy A. Guggenheim et al.

Summary: This study analyzed 1944 pairs of adult siblings from the United Kingdom and found that the genetic risk for refractive error is primarily transmitted from parents to offspring, rather than through the environment created by parents.

EUROPEAN JOURNAL OF HUMAN GENETICS (2022)

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Article Biology

New loci for refractive errors and ocular biometric parameters in young Chinese Han adults

Yunyun Sun et al.

Summary: Myopia has become a major public health issue with increasing prevalence. Genetic factors might be protecting people from myopia, and certain risk genes for primary angle closure glaucoma (PACG) could act as a protective factor for myopia.

SCIENCE CHINA-LIFE SCIENCES (2022)

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Review Biochemical Research Methods

Artificial intelligence and machine learning approaches using gene expression and variant data for personalized medicine

Sreya Vadapalli et al.

Summary: Precision medicine utilizes genetic, environmental, and lifestyle factors to accurately diagnose and treat diseases in specific patient groups. The integration of genetics into precision medicine is a complex and data-rich aspect. The use of artificial intelligence (AI) and machine learning (ML) methods is crucial for successfully incorporating genetics into precision medicine across diverse populations and diseases. This review compares and analyzes the scientific objectives, methodologies, datasets, data sources, ethics, and gaps of AI/ML approaches in genomics and precision medicine, identifying 32 different AI/ML approaches applied in various genomics studies.

BRIEFINGS IN BIOINFORMATICS (2022)

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Article Genetics & Heredity

Education interacts with genetic variants near GJD2, RBFOX1, LAMA2, KCNQ5 and LRRC4C to confer susceptibility to myopia

Rosie Clark et al.

Summary: The study identifies genetic variants that interact with education level to increase susceptibility to myopia.

PLOS GENETICS (2022)

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Article Pediatrics

Effect of Text Messaging Parents of School-Aged Children on Outdoor Time to Control Myopia A Randomized Clinical Trial

Shi-Ming Li et al.

Summary: This randomized clinical trial found that sending SMS text messages to parents can lead to lower myopia progression and axial elongation in school-aged children, possibly through increased outdoor time and light exposure.

JAMA PEDIATRICS (2022)

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Article Medicine, Research & Experimental

A deep-learning system predicts glaucoma incidence and progression using retinal photographs

Fei Li et al.

Summary: This study developed a deep-learning system for predicting and stratifying the risk of glaucoma onset and progression. The algorithm demonstrated good performance and accuracy in predicting glaucoma incidence and progression in external population cohorts.

JOURNAL OF CLINICAL INVESTIGATION (2022)

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Article Psychology, Developmental

Three phases of Gene x Environment interaction research: Theoretical assumptions underlying gene selection

Xiaoya Zhang et al.

Summary: Gene x Environment interaction (GxE) research can be categorized into three phases: single candidate genes, composited (multiple) candidate genes, and GWAS-derived polygenic scores. The selection of genes and decisions made in these studies are influenced by implicit or explicit theoretical assumptions, which have not been clearly addressed or fully recognized.

DEVELOPMENT AND PSYCHOPATHOLOGY (2022)

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Article Clinical Neurology

Interaction of CEND1 gene and life events in susceptibility to depressive symptoms in Chinese Han college students

Binyin Hou et al.

Summary: The study found that the CEND1 gene may be associated with depressive symptoms, especially under negative life events. Two SNPs (rs7946354 and rs6597982) have significant impacts on DSs and negative life events. The AG genotype of rs6597982 and GT genotype of rs7946354 contribute to the maximum risk of DSs under high negative life events.

JOURNAL OF AFFECTIVE DISORDERS (2021)

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Article Genetics & Heredity

Leveraging phenotypic variability to identify genetic interactions in human phenotypes

Andrew R. Marderstein et al.

Summary: The study demonstrates that prioritizing genetic variants associated with trait variance can improve GxE discovery rates and vQTLs are also enriched for associations with non-BMI phenotypes influenced by environmental factors. GxE effects identified in quantitative traits can also be utilized for GxE discovery in disease phenotypes.

AMERICAN JOURNAL OF HUMAN GENETICS (2021)

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Article Environmental Sciences

Fluoride exposure, dopamine relative gene polymorphism and intelligence: A cross-sectional study in China

Liang Zhao et al.

Summary: The study suggests that DA relative genes may modify the association between fluoride exposure and intelligence, and there may be a potential interaction among fluoride exposure and DA relative genes on IQ.

ECOTOXICOLOGY AND ENVIRONMENTAL SAFETY (2021)

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Article Ophthalmology

The Clouclip, a wearable device for measuring near-work and outdoor time: validation and comparison of objective measures with questionnaire estimates

Longbo Wen et al.

Summary: The novel wearable device Clouclip was validated for its precision and accuracy in measuring viewing distance and light exposure, showing excellent results. However, questionnaires tended to overestimate near-work and outdoor activities compared to Clouclip measurements. Indoor-oriented lifestyles were prevalent among Chinese children, as indicated by the study.

ACTA OPHTHALMOLOGICA (2021)

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Article Biochemical Research Methods

GEM: scalable and flexible gene-environment interaction analysis in millions of samples

Kenneth E. Westerman et al.

Summary: Gene-environment interaction studies provide insights into how genetic variants modify the effects of environmental, physiological, lifestyle or treatment factors on complex traits. The newly developed software program GEM allows for robust analysis of multiple GEI terms and adjustment for covariates, with the capability to efficiently handle large sample sizes. This software enables large-scale GEI studies and has the potential to advance our understanding of the genetic architecture of complex diseases and traits.

BIOINFORMATICS (2021)

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Article Ophthalmology

Reliability and validity of the Actiwatch and Clouclip for measuring illumination in real-world conditions

Colleen M. Howell et al.

Summary: The study compared real-world measures of illumination obtained with Actiwatch-2 and Clouclip-M2 with 'gold standard' photometry measures, finding that both devices underestimated illumination compared to the photometer with Actiwatch-2 showing a greater disparity. Clouclip classified illumination levels >2 lux more accurately than Actiwatch-2 but could not discriminate between scotopic and low mesopic light.

OPHTHALMIC AND PHYSIOLOGICAL OPTICS (2021)

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Article Genetics & Heredity

Association of Extracellular Signal-Regulated Kinase Genes With Myopia: A Longitudinal Study of Chinese Children

Haishao Xiao et al.

Summary: This study identified genetic variants of crucial ERK signaling pathway genes that were significantly correlated with myopia and ocular parameter alterations in Chinese children. A combination of gene and miRNA functional analyses with enrichment analyses highlights the regulatory effects associated with ocular development and dopamine biological functions. This study offers novel clues to understand the role of dopamine in the molecular mechanisms of myopia.

FRONTIERS IN GENETICS (2021)

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Article Ophthalmology

Decreased Choroidal Blood Perfusion Induces Myopia in Guinea Pigs

Xuan Zhou et al.

Summary: Reducing choroidal blood perfusion in guinea pigs can induce myopia development and increase scleral hypoxia and expression of alpha-SMA protein. This study suggests that choroidal blood perfusion reduction could be a potential biomarker for early detection of myopia development in future clinical trials.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2021)

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Article Ophthalmology

Genetic Variants Associated With Human Eye Size Are Distinct From Those Conferring Susceptibility to Myopia

Denis Plotnikov et al.

Summary: The genetic variants that regulate eye size in emmetropic eyes are distinct from those that confer susceptibility to myopia, indicating that different biological pathways are involved in normal eye growth and myopia development.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2021)

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Article Ophthalmology

Phenotypic Consequences of the GJD2 Risk Genotype in Myopia Development

Annechien E. G. Haarman et al.

Summary: This study investigates the impact of the refractive error gene GJD2 on human myopia, finding that it affects ocular biometry, particularly axial length and anterior chamber depth. Children carrying two risk alleles show larger axial length/corneal radius ratio at ages 6 and 9. Education and environmental factors negatively influence myopia and biometric outcomes, though gene-environment interactions do not reach statistical significance.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2021)

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Article Ophthalmology

IMI 2021 Yearly Digest

Monica Jong et al.

Summary: A large amount of research on myopia has been published since the release of the IMI 2019 white papers. Key advances include improvements in definitions, genetic research, and clinical interventions in the field of myopia.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2021)

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Article Ophthalmology

IMI Prevention of Myopia and Its Progression

Jost B. Jonas et al.

Summary: The prevalence of myopia is increasing in East and Southeast Asia, with strategies needed to reduce its progression. Encouraging outdoor activities and using low-dose atropine eye drops are beneficial measures for reducing myopia development. Individual risk-to-benefit ratios need to be considered for different treatment options based on age, health, and lifestyle.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2021)

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Article Ophthalmology

Association Between Polygenic Risk Score and Risk of Myopia

Neema Ghorbani Mojarrad et al.

JAMA OPHTHALMOLOGY (2020)

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Article Genetics & Heredity

Identifying blood pressure loci whose effects are modulated by multiple lifestyle exposures

Oyomoare L. Osazuwa-Peters et al.

GENETIC EPIDEMIOLOGY (2020)

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Article Genetics & Heredity

Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia

Pirro G. Hysi et al.

NATURE GENETICS (2020)

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Article Biotechnology & Applied Microbiology

Association between MMP/TIMP Levels in the Aqueous Humor and Plasma with Axial Lengths in Myopia Patients

Yu Yue et al.

BIOMED RESEARCH INTERNATIONAL (2020)

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Article Medicine, General & Internal

Scleral HIF-1α is a prominent regulatory candidate for genetic and environmental interactions in human myopia pathogenesis

Fei Zhao et al.

EBIOMEDICINE (2020)

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Review Biochemical Research Methods

Tutorial: a guide to performing polygenic risk score analyses

Shing Wan Choi et al.

NATURE PROTOCOLS (2020)

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Article Biochemical Research Methods

A two-step approach to testing overall effect of gene-environment interaction for multiple phenotypes

Arunabha Majumdar et al.

Summary: The study combines simultaneous evaluation of multiple phenotypes and a two-step analysis approach to improve the power of detecting gene-environment (GxE) interactions. Through simulations, it was demonstrated that the method offers substantial gain in power for detecting aggregate-level GxE effects for multiple phenotypes.

BIOINFORMATICS (2020)

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Article Ophthalmology

A Novel Approach to Quantify Environmental Risk Factors of Myopia: Combination of Wearable Devices and Big Data Science

Lei Li et al.

TRANSLATIONAL VISION SCIENCE & TECHNOLOGY (2020)

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Article Ophthalmology

Effect of Genetic-Environmental Interaction on Chinese Childhood Myopia

Xiyan Zhang et al.

JOURNAL OF OPHTHALMOLOGY (2020)

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Editorial Material Pediatrics

Outdoor Activity Protects Against Childhood Myopia-Let the Sun Shine In

Karla Zadnik et al.

JAMA PEDIATRICS (2019)

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Article Public, Environmental & Occupational Health

Interaction between lifestyle and genetic susceptibility in myopia: the Generation R study

Clair A. Enthoven et al.

EUROPEAN JOURNAL OF EPIDEMIOLOGY (2019)

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Article Medicine, Research & Experimental

Interaction between CONNEXIN37 and PDE4D gene polymorphisms with susceptibility to ischemic stroke in Chinese population

Lixia Zhang et al.

EXPERIMENTAL BIOLOGY AND MEDICINE (2019)

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Article Ophthalmology

An overview of myopia genetics

Xue-Bi Cai et al.

EXPERIMENTAL EYE RESEARCH (2019)

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Article Genetics & Heredity

MR-pheWAS with stratification and interaction: Searching for the causal effects of smoking heaviness identified an effect on facial aging

Louise A. C. Millard et al.

PLOS GENETICS (2019)

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Article Genetics & Heredity

Multi-SKAT: General framework to test for rare-variant association with multiple phenotypes

Diptavo Dutta et al.

GENETIC EPIDEMIOLOGY (2019)

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Article Genetics & Heredity

A linear mixed-model approach to study multivariate gene-environment interactions

Rachel Moore et al.

NATURE GENETICS (2019)

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Review Ophthalmology

Potential Lost Productivity Resulting from the Global Burden of Myopia

Kovin S. Naidoo et al.

OPHTHALMOLOGY (2019)

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Article Ophthalmology

A Genome-Wide Association Study for Susceptibility to Visual Experience-Induced Myopia

Yu Huang et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2019)

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Article Ophthalmology

IMI - Myopia Genetics Report

Milly S. Tedja et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2019)

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Article Pathology

Cause and Effect Relationship between Changes in Scleral Matrix Metallopeptidase-2 Expression and Myopia Development in Mice

Fei Zhao et al.

AMERICAN JOURNAL OF PATHOLOGY (2018)

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Article Genetics & Heredity

Triangular relationship between CYP2R1 gene polymorphism, serum 25(OH)D-3 levels and T2DM in a Chinese rural population

Yan Wang et al.

GENE (2018)

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Article Education, Special

Gene x Environment interaction: What exactly are we talking about?

David S. Moore

RESEARCH IN DEVELOPMENTAL DISABILITIES (2018)

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Article Genetics & Heredity

Genetic and environmental-genetic interaction rules for the myopia based on a family exposed to risk from a myopic environment

Li Wenbo et al.

GENE (2017)

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Article Biochemical Research Methods

A roadmap to multifactor dimensionality reduction methods

Damian Gola et al.

BRIEFINGS IN BIOINFORMATICS (2016)

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Article Biochemistry & Molecular Biology

GMDR: Versatile Software for Detecting Gene-Gene and Gene-Environment Interactions Underlying Complex Traits

Hai-Ming Xu et al.

CURRENT GENOMICS (2016)

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Article Genetics & Heredity

A perspective on interaction effects in genetic association studies

Hugues Aschard

GENETIC EPIDEMIOLOGY (2016)

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Article Ophthalmology

Global Prevalence of Myopia and High Myopia and Temporal Trends from 2000 through 2050

Brien A. Holden et al.

OPHTHALMOLOGY (2016)

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Article Ophthalmology

Peripheral Refraction, Peripheral Eye Length, and Retinal Shape in Myopia

Pavan K. Verkicharla et al.

OPTOMETRY AND VISION SCIENCE (2016)

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Article Multidisciplinary Sciences

Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error

Qiao Fan et al.

NATURE COMMUNICATIONS (2016)

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Article Multidisciplinary Sciences

Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium

Qiao Fan et al.

SCIENTIFIC REPORTS (2016)

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Review Genetics & Heredity

Strategies for Imputing and Analyzing Rare Variants in Association Studies

Thomas J. Hoffmann et al.

TRENDS IN GENETICS (2015)

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Article Genetics & Heredity

APLP2 Regulates Refractive Error and Myopia Development in Mice and Humans

Andrei V. Tkatchenko et al.

PLOS GENETICS (2015)

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Article Biochemistry & Molecular Biology

Education influences the association between genetic variants and refractive error: a meta-analysis of five Singapore studies

Qiao Fan et al.

HUMAN MOLECULAR GENETICS (2014)

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Article Genetics & Heredity

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

Khanh-Nhat Tran-Viet et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2013)

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Article Public, Environmental & Occupational Health

Education influences the role of genetics in myopia

Virginie J. M. Verhoeven et al.

EUROPEAN JOURNAL OF EPIDEMIOLOGY (2013)

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Article Ophthalmology

Matrix Metalloproteinases and Educational Attainment in Refractive Error Evidence of Gene-Environment Interactions in the Age-related Eye Disease Study

Robert Wojciechowski et al.

OPHTHALMOLOGY (2013)

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Article Ophthalmology

Heritability of Myopia and Ocular Biometrics in Koreans: The Healthy Twin Study

Myung Hun Kim et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2013)

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Review Psychiatry

A Critical Review of the First 10 Years of Candidate Gene-by-Environment Interaction Research in Psychiatry

Laramie E. Duncan et al.

AMERICAN JOURNAL OF PSYCHIATRY (2011)

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Article Genetics & Heredity

Exome Sequencing Identifies ZNF644 Mutations in High Myopia

Yi Shi et al.

PLOS GENETICS (2011)

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Article Ophthalmology

Selective Breeding for Susceptibility to Myopia Reveals a Gene-Environment Interaction

Yen-Po Chen et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2011)

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Review Genetics & Heredity

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Duncan Thomas

NATURE REVIEWS GENETICS (2010)

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Ronja Foraita

EUROPEAN JOURNAL OF EPIDEMIOLOGY (2009)

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Article Ophthalmology

Heritability of refractive error and ocular biometrics: The Genes in Myopia (GEM) Twin Study

Mohamed Dirani et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2006)

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Article Multidisciplinary Sciences

Form deprivation modulates retinal neurogenesis in primate experimental myopia

AV Tkatchenko et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)

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Dichotomizing continuous predictors in multiple regression: a bad idea

P Royston et al.

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