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Further delineation of van den Ende‐Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62194Source: DataRank Database

Further delineation of van den Ende‐Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome is a research paper published in American Journal of Medical Genetics Part A (2021). On theSindex it has a DataRank of 0. It has been cited 12 times.

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12 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (3 grants)Impact (FWCI 0.44)OA: closedTopics (60)IDs (PubMed, OpenAlex)SDGs (1)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

Has DOI

Accessible (0/2)

Interoperable (0/2)

Reusable (0/3)

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Authors (15)

Nisha Patel ORCID,John M. Graham ORCID,Michael J. Bamshad ORCID,Deborah A. Nickerson ORCID,Janson J. White ORCID

Live enrichment

PubMed:33783941 OpenAlex:https://openalex.org/W3147233637

National Heart, Lung, and Blood Institute

Grant: U24 HG008956

National Human Genome Research Institute

Grant: UM1 HG006493

NIH Office of the Director

Grant: S10OD021553

FWCI

0.44

Citation Percentile

0.6%

Citation Trend

2022

2023

2024

2025

2026

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

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62194

publisherhttps://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.a.62194

journalhttps://doi.org/10.1002/ajmg.a.62194

repositoryhttps://pubmed.ncbi.nlm.nih.gov/33783941

Fields of Study

RNA modifications and cancerCancer-related gene regulationGenomic variations and chromosomal abnormalitiesAbnormalities, MultipleAdolescentAdultArachnodactylyBlepharophimosisChildChild, PreschoolContractureFemaleGenes, RecessiveGenetic HeterogeneityGenetic Predisposition to DiseaseHeart Defects, CongenitalHumansInfantMaleMiddle AgedProto-Oncogene Proteins c-ablScavenger Receptors, Class FExome SequencingYoung AdultMarden Walker like syndrome

MeSH Terms

Abnormalities, MultipleExome SequencingAdolescentAdultChildChild, PreschoolContractureFemaleGenes, RecessiveHeart Defects, CongenitalHumansInfantMaleMiddle AgedProto-Oncogene Proteins c-ablBlepharophimosisGenetic HeterogeneityGenetic Predisposition to DiseaseScavenger Receptors, Class FArachnodactylyYoung Adult

Keywords

Exome sequencingGeneticsBiologyGenetic testingBlepharophimosisGenetic heterogeneityPhenotypeExomeHuman geneticsGeneArachnodactylyHybrid PhenotypesAortic Root DilationCongenital Heart Disease And Skeletal Malformations Syndrome

Sustainable Development Goals

SDG 0: Good health and well-being

Further delineation of van den Ende‐Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome

FAIR Checklist

Authors (15)

Funding (3 grants)

Impact

Open Access

Topics