Jeremy Guggenheim

Publications

• Education interacts with genetic variants near GJD2, RBFOX1, LAMA2, KCNQ5 and LRRC4C to confer susceptibility to myopia
• Non-additive (dominance) effects of genetic variants associated with refractive error and myopia
• Whole exome sequence analysis in 51 624 participants identifies novel genes and variants associated with refractive error and myopia
• Myopia: mechanisms, manifestations and management
• Novel Myopia Genes and Pathways Identified From Syndromic Forms of Myopia
• An introduction to Point-Counterpoint articles.
• Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia
• Evidence That Emmetropization Buffers Against Both Genetic and Environmental Risk Factors for Myopia
• Refractive Error Has Minimal Influence on the Risk of Age-Related Macular Degeneration: A Mendelian Randomization Study
• Association Between Polygenic Risk Score and Risk of Myopia
• IMI – Interventions for Controlling Myopia Onset and Progression Report
• IMI – Myopia Genetics Report
• Grandmothers’ smoking in pregnancy is associated with a reduced prevalence of early-onset myopia
• Quantile regression analysis reveals widespread evidence for gene-environment or gene-gene interactions in myopia development
• Oral administration of caffeine metabolite 7-methylxanthine is associated with slowed myopia progression in Danish children
• Vorhersage des Myopierisikos bei verschiedenen ethnischen Gruppen mithilfe von genetischen Risikoscores
• Assessing the contribution of genetic nurture to refractive error
• Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error
• Meta-analysis of gene–environment-wide association scans accounting for education level identifies additional loci for refractive error
• Birth order and myopia
• Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR, and PPFIA2
• A genome-wide association study for corneal curvature identifies the platelet-derived growth factor receptor alpha gene as a quantitative trait locus for eye size in white Europeans
• Author Correction: Grandmothers’ smoking in pregnancy is associated with a reduced prevalence of early-onset myopia
• Childhood febrile illness and the risk of myopia in UK Biobank participants
• Education and myopia: assessing the direction of causality by mendelian randomisation
• Assumption-free estimation of the genetic contribution to refractive error across childhood.
• Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error.
• A genome-wide association study of corneal astigmatism: The CREAM Consortium.
• Axial length growth and the risk of developing myopia in European children.
• Interocular asymmetries in axial length and refractive error in 4 cohorts.
• Genetically low vitamin D concentrations and myopic refractive error: a Mendelian randomization study.
• Genetic prediction of myopia: prospects and challenges.
• Time Outdoors at Specific Ages During Early Childhood and the Risk of Incident Myopia.
• When do myopia genes have their effect? Comparison of genetic risks between children and adults.
• The effect of unilateral disruption of the centrifugal visual system on normal eye development in chicks raised under constant light conditions.
• Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium.
• Role of Educational Exposure in the Association Between Myopia and Birth Order.
• APLP2 Regulates Refractive Error and Myopia Development in Mice and Humans.
• Does vitamin D mediate the protective effects of time outdoors on myopia? Findings from a prospective birth cohort.
• Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.
• Disruption of the centrifugal visual system inhibits early eye growth in chicks.
• A genome-wide association study for corneal curvature identifies the platelet-derived growth factor receptor α gene as a quantitative trait locus for eye size in white Europeans.
• A genetic risk score and number of myopic parents independently predict myopia
• Genome-wide association studies for corneal and refractive astigmatism in UK Biobank demonstrate a shared role for myopia susceptibility loci
• Mendelian randomisation and the goal of inferring causation from observational studies in the vision sciences
• A commonly occurring genetic variant within the NPLOC4–TSPAN10–PDE6G gene cluster is associated with the risk of strabismus
• Association between birth weight and refractive error in adulthood: a Mendelian randomisation study
• Non-uniform genetic effect sizes of variants associated with refractive error suggests gene-gene or gene-environment interactions are pervasive
• Geographical Variation in Likely Myopia and Environmental Risk Factors: A Multilevel Cross Classified Analysis of A UK Cohort
• Evidence For and Against Genetic Testing to Identify Children at Risk of High Myopia
• Chloride channel gene expression in the rabbit cornea
• An international collaborative family-based whole genome quantitative trait linkage scan for myopic refractive error.
• Family aggregation of high myopia: estimation of the sibling recurrence risk ratio.
• Linkage analysis of the genetic loci for high myopia on 18p, 12q, and 17q in 51 U.K. families.
• Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error
• On the shoulders of a giant: his legacy will live on.
• Disruption of the centrifugal visual system inhibits early eye growth in chicks.
• Body stature growth trajectories during childhood and the development of myopia
• Coordinated genetic scaling of the human eye: Shared determination of axial eye length and corneal curvature
• Ocular epidemiology and genetics
• Heritability of ocular component dimensions in mice phenotyped using depth-enhanced swept source optical coherence tomography
• Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma cosegregating in a family
• The Association between Spherical and Cylindrical Component Powers
• Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia
• Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium
• Graphics processing unit-based dispersion encoded full-range frequency-domain optical coherence tomography.
• Time outdoors and physical activity as predictors of incident myopia in childhood: A prospective cohort study
• Season of Birth, Daylight Hours at Birth, and High Myopia
• Myocilin polymorphisms and high myopia in subjects of European origin
• Axes of astigmatism in fellow eyes show mirror rather than direct symmetry
• An international collaborative family-based whole genome quantitative trait linkage scan for myopic refractive error
• Pre-treatment choroidal thickness is not predictive of susceptibility to form-deprivation myopia in chickens
• Selective breeding for susceptibility to myopia reveals a gene-environment interaction
• Heritability of ocular component dimensions in chickens: Genetic variants controlling susceptibility to experimentally induced myopia and pretreatment eye size are distinct
• Genetic association of insulin-like growth factor-1 polymorphisms with high-grade myopia in an international family cohort
• Ex vivo magnetic resonance imaging of crystalline lens dimensions in chicken
• Lumican and muscarinic acetylcholine receptor 1 gene polymorphisms associated with high myopia
• Highly reproducible swept-source, dispersion-encoded full-range biometry and imaging of the mouse eye
• Sex, eye size, and the rate of myopic eye growth due to form deprivation in outbred White Leghorn chickens
• An international collaborative family-based whole-genome linkage scan for high-grade Myopia
• COL1A1 and COL2A1 genes and myopia susceptibility: Evidence of association and suggestive linkage to the COL2A1 locus
• Quality of DNA extracted from mouthwashes
• Common determinants of body size and eye size in chickens from an advanced intercross line
• Application of fluorescence difference gel electrophoresis technology in searching for protein biomarkers in chick myopia
• Comment on 'A PAX6 gene polymorphism is associated with genetic predisposition to extreme myopia'
• Simultaneous defocus integration during refractive development
• Measurement of intraocular pressure (IOP) in chickens using a rebound tonometer: Quantitative evaluation of variance due to position inaccuracies
• Correlations in refractive errors between siblings in the Singapore Cohort Study of Risk factors for Myopia
• Is active glucose transport present in bovine ciliary body epithelium?
• A chick retinal proteome database and differential retinal protein expressions during early ocular development
• Proteases in eye development and disease
• Anisometropia is independently associated with both spherical and cylindrical ametropia
• A deficit in visits to the optometrist by preschool age children: Implications for vision screening [9]
• Gelatinous drop-like corneal dystrophy in a child with developmental delay: Clinicopathological features and exclusion of the M1S1 gene
• Postnatal refractive development in the Brown Norway rat: Limitations of standard refractive and ocular component dimension measurement techniques
• Astigmatic Axis is Related to the Level of Spherical Ametropia
• Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family.
• Ex vivo magnetic resonance imaging of crystalline lens dimensions in chicken.
• 3-Dimensional modelling of chick embryo eye development and growth using high resolution magnetic resonance imaging.
• Myocilin polymorphisms and high myopia in subjects of European origin.
• Myopia, genetics, and ambient lighting at night in a UK sample
• Similar genetic susceptibility to form-deprivation myopia in three strains of chicken
• The heritability of high myopia: A reanalysis of Goldschmidt's data
• Prevention of depurination during elution facilitates the reamplification of DNA from differential display gels.
• Mammalian polyadenylation sites: Implications for differential display
• Form-deprivation myopia induces activation of scierai matrix metalloproteinase-2 in tree shrew
• Chloride binding in the stroma of cultured human corneas
• Localization of Na+ K+-ATPase in the bovine corneal endothelium
• 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
• Identifying non‐responders to treatments for myopia