Associated Papers
From Genes to Disease: Reassessing LOXHD1 and AGBL1's Contribution to Fuchs' Dystrophy.
Tsedilina TR et al.
International Journal of Molecular Sciences, 2025
Genetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and Severity.
Liu S et al.
Jama Ophthalmology, 2025
Steroid hormone receptors, exome sequencing and treatment responsiveness of breast cancer patient-derived xenografts originated in a South American country.
Pataccini G et al.
Scientific Reports, 2025
39827242 (PubMed )
Supplement: 41598_2025_86389_MOESM2_ESM.xlsx › Sheet1
A Rare Variant in MDH2 (rs111879470) Is Associated with Predisposition to Recurrent Breast Cancer in an Extended High-Risk Pedigree.
Cannon-Albright LA et al.
Cancers, 2023
38136396 (PubMed )
Supplement: cancers-15-05851-s001.zip › cancers-2619236-supplementary_MDH2_V2.xlsx › Table_S1
A Prospective Study of Genetic Variants in Infants with Congenital Unilateral Sensorineural Hearing Loss.
Johansson M et al.
Journal of Clinical Medicine, 2023
36675424 (PubMed )
Supplement: jcm-12-00495-s001.zip › Tables_S1_and_S2.pdf
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
37441688 (PubMed )
Supplement: Table_1.xlsx › LOXHD1_cases
Genetic mutations and molecular mechanisms of Fuchs endothelial corneal dystrophy.
Liu X et al.
Eye and Vision (london, England), 2021
Integrated Proteogenomic Characterization of Clear Cell Renal Cell Carcinoma.
Clark DJ et al.
Cell, 2019
31675502 (PubMed )
Supplement: NIHMS1597713-supplement-Table_S7.xlsx › NeoFlow
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy.
Riazuddin SA et al.
American Journal of Human Genetics, 2012
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