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Aortic Root Dilation and Genotype Associations in Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63872Source: DataRank Database

Aortic Root Dilation and Genotype Associations in Phelan‐McDermid Syndrome is a research paper published in American Journal of Medical Genetics Part A (2024). On theSindex it has a DataRank of 0.

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datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (7 grants)Impact (FWCI 0.00)OA: bronzeTopics (39)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 (22)

Tess Levy ORCID,Kate Friedman,Francesca Garces,Rajna Filip‐Dhima,Aisling Quinlan ORCID

Live enrichment

PubMed:39257296 PMC:PMC11637948 OpenAlex:https://openalex.org/W4402449487

National Center for Advancing Translational Sciences

Grant: U2CTR002818

National Institutes of Health

Grant: K23NS119666

NINDS NIH HHS

Grant: U54 NS092090

NICHD NIH HHS

Grant: P50 HD105351

Intramural NIH HHS

Grant: ZIC MH002961

NINDS NIH HHS

Grant: R01 NS105845

Rare Diseases Clinical Research Network

FWCI

0.00

Citation Percentile

0.1%

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

journalhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.63872

publisherhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.63872

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63872

journalhttps://doi.org/10.1002/ajmg.a.63872

repositoryhttps://pubmed.ncbi.nlm.nih.gov/39257296

Fields of Study

Genomic variations and chromosomal abnormalitiesCongenital heart defects researchGenomics and Rare DiseasesMedicine

MeSH Terms

AdolescentAdultAortaChildChild, PreschoolChromosome DeletionChromosomes, Human, Pair 22EchocardiographyFemaleGenotypeHumansMaleNerve Tissue ProteinsPhenotypeChromosome DisordersYoung AdultGenetic Association Studies

Keywords

GeneticsObservational studyGenotypeGeneAortic rootBiologyPhenotypeChromosomeDeletion syndromeGenetic testingInternal medicineMedicineAortaShank3Genotype–phenotype Correlation22Q13Aortic Root DilationPhelan‐mcdermid Syndrome

Sustainable Development Goals

SDG 0: Good health and well-being