Research map: PALM3 and hearing loss: a potential dual diagnosis interfering with novel gene discovery
Back to the article
Papers in this map
Morphological differences among radial afferent fibers in the cat cochlea: An electron-microscopic study of serial sections
· M. Charles Liberman · 1980 · 425 citations · Cited by this paper
Copy number variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders—the DDD-Africa study
· 2026 · Related
Structure of the nerve endings on the external hair cells of the guinea pig cochlea as studied by serial sections
· Catherine A. Smith · 1961 · 291 citations · Cited by this paper
The co-design, development, and preliminary evaluation of a comprehensive breast cancer risk report incorporating polygenic risk information
· 2026 · Related
Sensory Processing at Ribbon Synapses in the Retina and the Cochlea
· Tobias Moser · 2019 · 234 citations · Cited by this paper
A thick opt-out for genomic newborn screening, retention, and reuse of genomic data
· 2026 · Related
Dosage sensitivity is a major determinant of human copy number variant pathogenicity
· Alan M. Rice · 2017 · 207 citations · Cited by this paper
When truncation is not loss of function: neo-tail architecture as a determinant of pathogenicity in NMD-escaping frameshift variants
· 2026 · Related
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction
· Michael R. Bowl · 2017 · 156 citations · Cited by this paper
A changed landscape: five-year retrospective on the paradigm shift in genetic testing practices for ALS in Canada
· 2026 · Related
Mouse screen reveals multiple new genes underlying mouse and human hearing loss
· Neil J. Ingham · 2019 · 130 citations · Cited by this paper
Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools
· 2026 · Related
Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran
· Christina Sloan-Heggen · 2015 · 122 citations · Cited by this paper
Integrative and systematic genomic approaches to improve diagnosis in rare and undiagnosed diseases: results from the RareBoost project
· 2026 · Related
Paralemmin, a Prenyl-Palmitoyl–anchored Phosphoprotein Abundant in Neurons and Implicated in Plasma Membrane Dynamics and Cell Process Formation
· Christian Kutzleb · 1998 · 96 citations · Cited by this paper
Tissue-specific enhanceropathy in Nail-patella syndrome: implications for surveillance and epigenetic diagnostics
· 2026 · Related
Stria vascularis and vestibular dark cells: characterisation of main structures responsible for inner-ear homeostasis, and their pathophysiological relations
· Raphael Richard Ciuman · 2008 · 83 citations · Cited by this paper
Family-oriented support in genetic counselling: a scoping review of clinical practice and psychotherapeutic interventions
· 2026 · Related
Heritability of Hearing Loss
· Ellen Kvestad · 2012 · 55 citations · Cited by this paper
Perspectives on phenotype in genetic testing for early-onset atrial fibrillation
· 2026 · Related
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans
· Barbara Vona · 2021 · 29 citations · Cited by this paper
Evolution of the Vertebrate Paralemmin Gene Family: Ancient Origin of Gene Duplicates Suggests Distinct Functions
· Greta Hultqvist · 2012 · 28 citations · Cited by this paper
Mendelian non-syndromic and syndromic hearing loss genes contribute to presbycusis
· Diana M. Cornejo-Sanchez · 2025 · 9 citations · Cited by this paper
Genetic and Environmental Contributions to Age-Related Hearing Loss: Results from a Longitudinal Twin Study
· Ryan M. O’Leary · 2025 · 5 citations · Cited by this paper
Paralemmin-3 sustains the integrity of the lateral plasma membrane and subsurface cisternae of auditory hair cells
· Victoria C. Halim · 2025 · 3 citations · Cited by this paper
Uncovering dual molecular diagnoses in families with complex phenotypes through structural and clinical studies of novel COL4A6 variants
· Daniel Owrang · 2025 · 3 citations · Cited by this paper
Genetic resonance: dissecting the heritability and genetic correlations of human hearing acuity
· Jerry A. Duran · 2024 · 2 citations · Cited by this paper
Genes underlying hereditary hearing impairment in humans and in mice
· Morag A. Lewis · 2025 · 2 citations · Cited by this paper
Untitled · Cited by this paper
Untitled · Cited by this paper
Source: OpenAlex (CC0)