ArticleAudiology research2023
Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants.
Article in Audiology research, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
7 citing papers in PubMed, 6 citations in OpenAlex.
- Unveiling the Prevalence and Surgical Burden of Neurocristopathies: A Scoping Review and Statistical Analysis.Research square · 2026Article
- Genetic Landscape of Hearing Loss in Brazilian Patients Reveals Population-Specific Variants and Clinical Correlations.Clinical genetics · 2026Article
- Vestibular Deficit in Patients with Waardenburg Syndrome.Biomedicines · 2025Article
- Full length transcriptomic profiling reveals insights into the white coat phenotype in Waardenburg syndrome mice harboring the Mitf R324del mutation.Scientific reports · 2025Article
- Waardenburg Syndrome Type 4 in Mongolian Children: Genetic and Clinical Characterization.International journal of molecular sciences · 2025Article
- Mild features of partialFrontiers in pediatrics · 2025Article
- Neural crest development and disorders: from patient to model system and back again - the NEUcrest conference.Biology open · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 5 institutions in 2 countries.
Funding
Abstract
Waardenburg syndrome (WS) is characterized by hearing loss and pigmentary abnormalities of the eyes, hair, and skin. The condition is genetically heterogeneous, and is classified into four clinical types differentiated by the presence of dystopia canthorum in type 1 and its absence in type 2. Additionally, limb musculoskeletal abnormalities and Hirschsprung disease differentiate types 3 and 4, respectively. Genes
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.