ArticleNeural plasticity2019
New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing.
Article in Neural plasticity, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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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.
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Who cites it
21 citing papers in PubMed, 33 citations in OpenAlex.
- Whole-Exome Sequencing Identified a Nonsense Pathogenic Variant in the MITF Gene Associated with Non-syndromic Hearing Loss.Biochemical genetics · 2026Article
- [Incomplete penetrance of SOX10 gene mutation in a family with Waardenburg syndrome type Ⅳ].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2026Article
- Developmental arrest of astrocyte lineage in Snai2 deletion mice: implication for the intellectual disability in patients with Waardenburg syndrome.Translational psychiatry · 2025Article
- Clinical Characteristics and Identification of Pathogenic Variant in a Large Chinese Family With Waardenburg Syndrome.Molecular genetics & genomic medicine · 2025Article
- Comprehensive Approach for the Genetic Diagnosis of Patients with Waardenburg Syndrome.Journal of personalized medicine · 2024Article
- Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.Orphanet journal of rare diseases · 2024Article
- Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants.Audiology research · 2023Article
- Identification of a de novo, Novel Pathogenic Variant in the Splice Region of theMolecular syndromology · 2023Article
- A comprehensive genotype-phenotype evaluation of eight Chinese probands with Waardenburg syndrome.BMC medical genomics · 2022Article
- Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco.Molecular biology reports · 2022Article
- Analysis of genotype-phenotype relationships in 90 Chinese probands with Waardenburg syndrome.Human genetics · 2022Article
- Association of type II Waardenburg syndrome with hypermetropic amblyopia.International journal of ophthalmology · 2022Article
- [Application of next generation sequencing in 3 Waardenburg syndrome].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2021Article
- Waardenburg syndrome type 2A in a large Iranian family with a novel MITF gene mutation.BMC medical genomics · 2021Article
- [Genotype and phenotype analysis of a family with Waardenburg syndrome type Ⅰcaused by a novel mutation inLin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2021Article
- A Novel Frameshift Variant of theMolecular syndromology · 2021Article
- Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report.BMC pediatrics · 2021Article
- A Model of Waardenburg Syndrome Using Patient-Derived iPSCs With aFrontiers in cell and developmental biology · 2021Article
- High Genetic Heterogeneity in Chinese Patients With Waardenburg Syndrome Revealed by Next-Generation Sequencing.Frontiers in genetics · 2021Article
- Two novel mutations of PAX3 and SOX10 were characterized as genetic causes of Waardenburg Syndrome.Molecular genetics & genomic medicine · 2020Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
Abstract
Background: Waardenburg syndrome (WS) is one of the most common forms of syndromic deafness with heterogeneity of loci and alleles and variable expressivity of clinical features. Methods: The technology of single-nucleotide variants (SNV) and copy number variation (CNV) detection was developed to investigate the genotype spectrum of WS in a Chinese population. Results: Ninety WS patients and 24 additional family members were recruited for the study. Fourteen mutations had not been previously reported, including c.808C>G, c.117C>A, c.152T>G, c.803G>T, c.793-3T >G, and c.801delT on Conclusions:
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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.