Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles

A structural variation reference for medical and population genetics

(2020) Ryan L. Collins et al.   NATURE

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Epithelial–mesenchymal plasticity: emerging parallels between tissue morphogenesis and cancer metastasis

(2020) Andrew T. Plygawko et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis

(2019) Lubica Dudakova et al.   EXPERIMENTAL EYE RESEARCH

Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4

(2018) Petra Liskova et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

(2016) Alice E. Davidson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Congenital Corneal Endothelial Dystrophies Resulting From Novel De Novo Mutations

(2016) Khrishen Cunnusamy et al.   CORNEA

Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing

(2016) Lan Qin et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3

(2015) Petra Liskova et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

An Ovol2-Zeb1 Mutual Inhibitory Circuit Governs Bidirectional and Multi-step Transition between Epithelial and Mesenchymal States

(2015) Tian Hong et al.   PLoS Computational Biology

Agenesis of the corpus callosum: A clinical approach to diagnosis

(2014) Elizabeth Emma Palmer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Identification of Six Novel Mutations inZEB1and Description of the Associated Phenotypes in Patients with Posterior Polymorphous Corneal Dystrophy 3

(2014) Cerys J. Evans et al.   ANNALS OF HUMAN GENETICS

Posterior polymorphous corneal dystrophy 3 is associated with agenesis and hypoplasia of the corpus callosum

(2014) Michelle S. Jang et al.   VISION RESEARCH

Epithelial-Mesenchymal Transition and Tumor Suppression Are Controlled by a Reciprocal Feedback Loop between ZEB1 and Grainyhead-like-2

(2013) B. Cieply et al.   CANCER RESEARCH

Further Genetic and Clinical Insights of Posterior Polymorphous Corneal Dystrophy 3

(2013) Petra Liskova et al.   JAMA Ophthalmology

Age-related changes in corneal thickness and endothelial characteristics

(2013) Saulius Galgauskas et al.   Clinical Interventions in Aging

Prevalence of and Risk Factors for Cornea Guttata in a Population-Based Study in a Southwestern Island of Japan

(2011) Akiko Higa   ARCHIVES OF OPHTHALMOLOGY

Variable ocular phenotypes of posterior polymorphous corneal dystrophy caused by mutations in theZEB1gene

(2010) Petra Liskova et al.   OPHTHALMIC GENETICS