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A de novo hexokinase 1 (HK1) variant presenting as Boucher–Neuhäuser syndrome

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.63045Source: DataRank Database

A de novo hexokinase 1 (HK1) variant presenting as Boucher–Neuhäuser syndrome is a research paper published in American Journal of Medical Genetics Part A (2022). On theSindex it has a DataRank of 0. It has been cited 6 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access6 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (4 grants)Impact (FWCI 1.01)OA: greenTopics (32)IDs (PubMed, PMC, OpenAlex)Annotations (1)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 (9)

Wadih M. Zein ORCID,Robert B. Hufnagel ORCID,Christine W. Ku,Rena A. Godfrey,Lynne A. Wolfe ORCID

Live enrichment

PubMed:36541585 PMC:PMC12176038 OpenAlex:https://openalex.org/W4312043193

Intramural NIH HHS

Grant: Z99 EY999999

Intramural NIH HHS

Grant: ZIA EY000564

National Institutes of Health

National Human Genome Research Institute

FWCI

1.01

Citation Percentile

0.8%

Citation Trend

2024

2025

greenLicense: http://onlinelibrary.wiley.com/termsAndConditions#vor

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/12176038

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63045

publisherhttps://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.a.63045

journalhttps://doi.org/10.1002/ajmg.a.63045

Fields of Study

Genomics and Rare DiseasesFetal and Pediatric Neurological DisordersMetabolism and Genetic DisordersSpinocerebellar AtaxiasHypogonadismKlinefelter SyndromeAtrophyHexokinaseHumansRetinal DystrophiesChorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism

MeSH Terms

AtrophyHexokinaseHumansHypogonadismKlinefelter SyndromeSpinocerebellar AtaxiasRetinal Dystrophies

Keywords

GeneticsXq28Hypogonadotropic hypogonadismPhenotypeBiologyExome sequencingGeneGenotypeAtrophyEndocrinologyCerebellar AtrophyCerebellar AtaxiaChorioretinal DystrophyBoucher-neuhäuser Syndrome

Sustainable Development Goals

SDG 0: Good health and well-being

A de novo hexokinase 1 (HK1) variant presenting as Boucher–Neuhäuser syndrome

FAIR Checklist

Authors (9)

Funding (4 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)