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Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function

Human Mutation(2022)10.1002/humu.24435Source: DataRank Database

Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function is a research paper published in Human Mutation (2022). On theSindex it has a DataRank of 0. It has been cited 29 times.

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Open Access29 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (5 grants)Impact (FWCI 2.12)OA: hybridTopics (35)IDs (PubMed, OpenAlex)SDGs (1)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

Has DOI

Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (25)

Barbara Vona ORCID,Hillary M. Porter ORCID,Mahmoud Izadi ORCID,Kevin Huang ORCID,Yves Lacassie ORCID

Live enrichment

PubMed:35815345 OpenAlex:https://openalex.org/W4285007342

National Research Foundation of Korea

Qatar Foundation

Oklahoma Medical Research Foundation

Deutsche Forschungsgemeinschaft

Presbyterian Health Foundation

FWCI

2.12

Citation Percentile

0.9%

Citation Trend

2022

2023

2024

2025

2026

hybridLicense: cc-by

journalhttps://doi.org/10.1002/humu.24435

publisherhttps://doi.org/10.1002/humu.24435

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24435

publisherhttps://onlinelibrary.wiley.com/doi/full-xml/10.1002/humu.24435

repositoryhttps://pubmed.ncbi.nlm.nih.gov/35815345

Fields of Study

RNA and protein synthesis mechanismsRNA Research and SplicingRNA modifications and cancerAmino Acyl-tRNA SynthetasesCharcot-Marie-Tooth DiseaseExonsHumansMutationPedigreeRNA, TransferSyndromeTryptophan-tRNA Ligase

MeSH Terms

Amino Acyl-tRNA SynthetasesCharcot-Marie-Tooth DiseaseExonsHumansMutationPedigreeRNA, TransferSyndromeTryptophan-tRNA Ligase

Keywords

BiologyGeneticsPhenotypeMicrocephalyGeneExonCaenorhabditis elegansZebrafishC. ElegansAutosomal RecessiveTranslation Initiation SitesWhep DomainBiallelic VariantsTryptophanyl-trna Synthetase 1 (Wars1)

Sustainable Development Goals

SDG 0: Good health and well-being