Associated Papers
Using Genetics for Glaucoma Screening and Risk Stratification: The LXXXII Edward Jackson Memorial Lecture.
Wiggs JL
American Journal of Ophthalmology, 2026
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
Evaluating Practical Approaches for Including MYOC Variants Alongside Common Variants for Genetics-Based Risk Stratification for Glaucoma.
Le NQ et al.
American Journal of Ophthalmology, 2025
Association between gene polymorphisms and glaucoma susceptibility among Africans: a systematic review and meta-analysis.
Asiamah R et al.
Ophthalmic Genetics, 2025
Progress in Translating Glaucoma Genetics Into the Clinic: A Review.
Kolovos A et al.
Clinical & Experimental Ophthalmology, 2025
Structural basis for anomalous cellular trafficking behavior of glaucoma-associated A427T mutant myocilin.
Hill KR et al.
Biorxiv : the Preprint Server for Biology, 2025
Protein misfolding and mitochondrial dysfunction in glaucoma.
Venkatesan A et al.
Frontiers in Cell and Developmental Biology, 2025
Childhood glaucoma: Implications for genetic counselling.
Maxwell G et al.
Clinical Genetics, 2024
Exploring the Genetic Landscape of Childhood Glaucoma.
Pan Y et al.
Children (basel, Switzerland), 2024
Novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation.
Lo Faro V et al.
Cell Reports. Medicine, 2024
Penetrance and expressivity of mitochondrial variants in a large clinically unselected population.
Cannon SJ et al.
Human Molecular Genetics, 2024
Somatic Mutations within Myocilin due to Aging May Be a Potential Risk Factor for Glaucoma.
Sazhnyev Y et al.
Genes, 2024
Serine to proline mutation at position 341 of MYOC impairs trabecular meshwork function by causing autophagy deregulation.
Yan X et al.
Cell Death Discovery, 2024
Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma.
Hamel AR et al.
Nature Communications, 2024
Identification of OPTN p.(Asn51Thr): A novel pathogenic variant in primary open-angle glaucoma.
Shiga Y et al.
Genetics in Medicine Open, 2024
Evaluation of Myocilin Variant Protein Structures Modeled by AlphaFold2.
Ng TK et al.
Biomolecules, 2023
The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023.
Quaio CRDC et al.
Human Genomics, 2023
Analysis of glaucoma genes in Finnish patients with juvenile open-angle glaucoma.
Liuska PJ et al.
Acta Ophthalmologica, 2023
Germline pathogenic variants in patients with high-grade gastroenteropancreatic neuroendocrine neoplasms.
Venizelos A et al.
Endocrine-related Cancer, 2023
Myocilin misfolding and glaucoma: A 20-year update.
Saccuzzo EG et al.
Progress in Retinal and Eye Research, 2023
Molecular genetics of primary open-angle glaucoma.
Yadav M et al.
Indian Journal of Ophthalmology, 2023
Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?
Mackey DA et al.
American Journal of Human Genetics, 2023
Quantitative differentiation of benign and misfolded glaucoma-causing myocilin variants on the basis of protein thermal stability.
Scelsi HF et al.
Disease Models & Mechanisms, 2023
FinnGen provides genetic insights from a well-phenotyped isolated population.
Kurki MI et al.
Nature, 2023
Genetics and Glaucoma: the state of the art.
Tirendi S et al.
Frontiers in Medicine, 2023
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel.
Burdon KP et al.
Human Mutation, 2022
Whole-exome sequencing study identifies rare variants and genes associated with intraocular pressure and glaucoma.
Gao XR et al.
Nature Communications, 2022
Penetrance of MYOC gene mutation in primary open-angle glaucoma: A systematic review and meta-analysis.
Xie JJ et al.
Ophthalmic Genetics, 2022
The genetics of glaucoma: Disease associations, personalised risk assessment and therapeutic opportunities-A review.
Aboobakar IF et al.
Clinical & Experimental Ophthalmology, 2022
Myocilin Gene Mutation Induced Autophagy Activation Causes Dysfunction of Trabecular Meshwork Cells.
Yan X et al.
Frontiers in Cell and Developmental Biology, 2022
Structure‒function‒pathogenicity analysis of C-terminal myocilin missense variants based on experiments and 3D models.
Zhou B et al.
Frontiers in Genetics, 2022
Age at Glaucoma Diagnosis in Germline Myocilin Mutation Patients: Associations with Polymorphisms in Protein Stabilities.
Tanji T et al.
Genes, 2021
Prevalence of MYOC risk variants for glaucoma in different populations.
Liuska PJ et al.
Acta Ophthalmologica, 2021
Discovery and implications of polygenicity of common diseases.
Visscher PM et al.
Science (new York, N.y.), 2021
Genetic Determinants of Intraocular Pressure.
Xu Z et al.
Annual Review of Vision Science, 2021
Association of Monogenic and Polygenic Risk With the Prevalence of Open-Angle Glaucoma.
Siggs OM et al.
Jama Ophthalmology, 2021
Characteristics of p.Gln368Ter Myocilin Variant and Influence of Polygenic Risk on Glaucoma Penetrance in the UK Biobank.
Zebardast N et al.
Ophthalmology, 2021
Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data.
Scelsi HF et al.
Human Mutation, 2021
Association of the MYOC p.(Gln368Ter) Variant With Glaucoma in a Finnish Population.
Liuska PJ et al.
Jama Ophthalmology, 2021
Autophagy stimulation reduces ocular hypertension in a murine glaucoma model via autophagic degradation of mutant myocilin.
Kasetti RB et al.
Jci Insight, 2021
The mutational spectrum of Myocilin gene among familial versus sporadic cases of Juvenile onset open angle glaucoma.
Gupta V et al.
Eye (london, England), 2021
Glaucoma phenotype in a large Chinese family with myocilin Val251Ala mutation.
Lu H et al.
Genomics, 2020
Characterization of a novel mutation in the MYOC gene in a Chinese family with primary open‑angle glaucoma.
Fan W et al.
Molecular Medicine Reports, 2020