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← Karen P. Steel

Papers by Karen P. Steel

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  1. Effects of Wbp2 gene activation and the modifier Cdh23ahl on progressive hearing loss in Wbp2 mouse mutantsHearing Research · 2026
  2. Large-scale audiometric phenotyping identifies distinct genes and pathways involved in hearing loss subtypesCommunications Biology · 2025
  3. Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset ParkinsonismAnnals of Neurology · 2025
  4. The importance of accurate phenotyping in large-scale analyses of common disorders such as hearing lossEuropean Journal of Human Genetics · 2025
  5. Genes underlying hereditary hearing impairment in humans and in mice.2025
  6. Non-invasive testing to diagnose the underlying auditory pathology of hearing impairmentHearing Research · 2025
  7. A non-invasive test for stria vascularis dysfunction2025
  8. Low level of expression of known deafness genes Kcne1, Kcnj10 or Col4a3 is sufficient to maintain hearing in miceHearing Research · 2025
  9. International Consortium on Ageing-Related Pathologies (ICCARP) Audiovestibular Group: fostering international consensus to refine International Classification of Diseases (ICD-11) codes for hearing loss across the life courseGeroScience · 2025
  10. A machine-learning-based approach to predict early hallmarks of progressive hearing lossHearing Research · 2025
  11. Rescue of cochlear vascular pathology prevents sensory hair cell loss in Norrie diseaseProceedings of the National Academy of Sciences · 2024
  12. Pathological mechanisms and candidate therapeutic approaches in the hearing loss of mice carrying human MIR96 mutationsGenome Medicine · 2024
  13. Investigating the effects of a cryptic splice site in the En2 splice acceptor sequence used in the IKMC knockout-first allelesMammalian Genome · 2024
  14. Two new mouse alleles of Ocm and Slc26a5Hearing Research · 2024
  15. A new mutation of Sgms1 causes gradual hearing loss associated with a reduced endocochlear potentialHearing Research · 2024
  16. Targeted genome editing restores auditory function in adult mice with progressive hearing loss caused by a human microRNA mutationScience Translational Medicine · 2024
  17. Mutations in EPG5 are associated with a wide spectrum of neurodevelopmental and neurodegenerative disorders2024
  18. Pathological mechanisms and candidate therapeutic approaches in the hearing loss of mice carrying humanMIR96mutations2024
  19. Genetic determinants of micronucleus formation in vivoNature · 2024
  20. Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing lossPLoS Genetics · 2023
  21. Targeted genome editing restores auditory function in adult mice with progressive hearing loss caused by a human microRNA mutation2023
  22. Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie diseaseEMBO Molecular Medicine · 2023
  23. Reversal of an existing hearing loss by gene activation in Spns2 mutant miceProceedings of the National Academy of Sciences · 2023
  24. Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variantsDisease Models & Mechanisms · 2023
  25. Reversal of an existing hearing loss in Spns2 mutant mice2023
  26. Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing loss2023
  27. In-depth genetic and molecular characterization of diaphanous related formin 2 (DIAPH2) and its role in the inner earPLoS ONE · 2023
  28. The Effect of a Pex3 Mutation on Hearing and Lipid Content of the Inner EarCells · 2022
  29. Investigating the characteristics of genes and variants associated with self-reported hearing difficulty in older adults in the UK BiobankBMC Biology · 2022
  30. Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and miceProceedings of the National Academy of Sciences · 2022
  31. Identification and characterisation of spontaneous mutations causing deafness from a targeted knockout programmeBMC Biology · 2022
  32. Grxcr1 regulates hair bundle morphogenesis and is required for normal mechanoelectrical transduction in mouse cochlear hair cellsPLoS ONE · 2022
  33. Targeted deletion of the RNA-binding protein Caprin1 leads to progressive hearing loss and impairs recovery from noise exposure in miceScientific Reports · 2022
  34. The timing of auditory sensory deficits in Norrie disease has implications for therapeutic interventionJCI Insight · 2022
  35. Investigating the Characteristics of Genes and Variants Associated with Self-Reported Hearing Difficulty in Older Adults in the UK Biobank2022
  36. Inner hair cell dysfunction in Klhl18 mutant mice leads to low frequency progressive hearing lossPLoS ONE · 2021
  37. Collateral damage: Identification and characterisation of spontaneous mutations causing deafness from a targeted knockout programme2021
  38. Targeted deletion of the RNA-binding protein Caprin1 leads to progressive hearing loss and impairs recovery from noise exposure in mice2021
  39. Inner hair cell dysfunction in Klhl18 mutant mice leads to low frequency progressive hearing loss2021
  40. Hearing impairment due to Mir183/96/182 mutations suggests both loss-of-function and gain-of-function effectsDisease Models & Mechanisms · 2020
  41. Translational and interdisciplinary insights into presbyacusis: A multidimensional diseaseHearing Research · 2020
  42. Synaptojanin2 Mutation Causes Progressive High-frequency Hearing Loss in MiceFrontiers in Cellular Neuroscience · 2020
  43. Functional analysis of candidate genes from genome-wide association studies of hearingHearing Research · 2020
  44. Mouse screen reveals multiple new genes underlying mouse and human hearing lossPLoS Biology · 2019
  45. Hearing impairment due to Mir183/96/182 mutations suggests both loss and gain of function effects2019
  46. Mechanotransduction is required for establishing and maintaining mature inner hair cells and regulating efferent innervationNature Communications · 2018
  47. Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genesSHILAP Revista de lepidopterología · 2018
  48. miR-96 is required for normal development of the auditory hindbrainHuman Molecular Genetics · 2018
  49. Prevalence of sexual dimorphism in mammalian phenotypic traitsNature Communications · 2017
  50. Alternative Splice Forms Influence Functions of Whirlin in Mechanosensory Hair Cell StereociliaCell Reports · 2016