1. A novel SLC26A4 splicing mutation identified in two deaf Chinese twin sisters with enlarged vestibular aqueducts
    Kai Zhou et al, 2020, Molecular Genetics & Genomic Medicine CrossRef
  2. Collagen Remodeling Plays a Pivotal Role in Endothelial Corneal Dystrophies
    Marcus Walckling et al, 2020, Investigative Opthalmology & Visual Science CrossRef
  3. Genetic mutations and molecular mechanisms of Fuchs endothelial corneal dystrophy
    Xuerui Liu et al, 2021, Eye and Vision CrossRef
  4. Systematic review of SLC4A11, ZEB1, LOXHD1, and AGBL1 variants in the development of Fuchs’ endothelial corneal dystrophy
    Tatiana Romanovna Tsedilina et al, 2023, Frontiers in Medicine CrossRef
  5. TCF4 trinucleotide repeat expansion in Swedish cases with Fuchs' endothelial corneal dystrophy
    Andreas Viberg et al, 2022, Acta Ophthalmologica CrossRef
  6. Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families
    Xiaohui Bai et al, 2020, BioMed Research International CrossRef
  7. Systematic Review of the Diagnostic Criteria and Severity Classification for Fuchs Endothelial Corneal Dystrophy
    Yoshinori Oie et al, 2023, Cornea CrossRef
  8. Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family
    Na Shen et al, 2019, BMC Medical Genetics CrossRef
  9. Analysis of candidate genes ZEB1 and LOXHD1 in late-onset Fuchs’ endothelial corneal dystrophy in an Indian cohort
    Bhavna S. Rao et al, 2018, Ophthalmic Genetics CrossRef
  10. Investigation of the functional impact of CHED- and FECD4-associated SLC4A11 mutations in human corneal endothelial cells
    Doug D. Chung et al, 2024, PLOS ONE CrossRef