Associated Papers
Systematic review of SLC4A11, ZEB1, LOXHD1, and AGBL1 variants in the development of Fuchs' endothelial corneal dystrophy.
Tsedilina TR et al.
Frontiers in Medicine, 2023
Genetic mutations and molecular mechanisms of Fuchs endothelial corneal dystrophy.
Liu X et al.
Eye and Vision (london, England), 2021
Fuchs endothelial corneal dystrophy: The vicious cycle of Fuchs pathogenesis.
Ong Tone S et al.
Progress in Retinal and Eye Research, 2021
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
33116287 (PubMed )
Supplement: 41586_2020_2859_MOESM1_ESM.pdf
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1
Dating genomic variants and shared ancestry in population-scale sequencing data.
Albers PK et al.
Plos Biology, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
The Molecular Basis of Fuchs' Endothelial Corneal Dystrophy.
Zhang J et al.
Molecular Diagnosis & Therapy, 2019
[Search for genetic markers for precise diagnostics of keratoconus].
Skorodumova LO et al.
Biomeditsinskaia Khimiia, 2019
Loss of the candidate tumor suppressor ZEB1 (TCF8, ZFHX1A) in Sézary syndrome.
Caprini E et al.
Cell Death & Disease, 2018
Functional impact of ZEB1 mutations associated with posterior polymorphous and Fuchs' endothelial corneal dystrophies.
Chung DW et al.
Investigative Ophthalmology & Visual Science, 2014
Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation.
Lechner J et al.
Investigative Ophthalmology & Visual Science, 2013
The genetics of Fuchs' corneal dystrophy.
Iliff BW et al.
Expert Review of Ophthalmology, 2012
Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.
Riazuddin SA et al.
American Journal of Human Genetics, 2010
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