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Multiple Genomic Technologies Validate Rare Novel Variant and Direct Medical Care in Vascular Anomalies

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64126Source: DataRank Database

Multiple Genomic Technologies Validate Rare Novel Variant and Direct Medical Care in Vascular Anomalies is a research paper published in American Journal of Medical Genetics Part A (2025). On theSindex it has a DataRank of 0. It has been cited 1 time.

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Open Access1 citations

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datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (4 grants)Impact (FWCI 1.13)OA: hybridTopics (31)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 (11)

Kristina Woodis,Allison Britt ORCID,Lea F. Surrey ORCID,Abhay Srinivasan ORCID,Arupa Ganguly ORCID

Live enrichment

PubMed:40613583 PMC:PMC12747425 OpenAlex:https://openalex.org/W4412034194

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Grant: ZIA‐HD009003

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Grant: ZIA-HD009003

Intramural NIH HHS

Grant: ZIA HD009003

Children's Hospital of Philadelphia Frontier Program Grant

FWCI

1.13

Citation Percentile

0.8%

Citation Trend

2026

hybridLicense: cc-by-nc-nd

journalhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.64126

publisherhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.64126

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.64126

publisherhttps://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.a.64126

journalhttps://doi.org/10.1002/ajmg.a.64126

Fields of Study

Vascular Malformations and HemangiomasVascular Tumors and AngiosarcomasTumors and Oncological Cases

MeSH Terms

ChildFemaleGenetic TestingHamartoma Syndrome, MultipleHumansMosaicismGenetic Predisposition to DiseaseGenomicsPTEN PhosphohydrolaseVascular Malformations

Keywords

PTENGenetic testingMacrocephalyExome sequencingMedicineSanger sequencingPathologyBioinformaticsGeneticsBiologyInternal medicineDNA sequencingMutationSirolimusVascular malformationSomatic MosaicismPten HamartomaFibroadipose Vascular Anomaly (Fava)

Sustainable Development Goals

SDG 0: Good health and well-being