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Utility of genome sequencing in exome‐negative pediatric patients with neurodevelopmental phenotypes

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63817Source: DataRank Database

Utility of genome sequencing in exome‐negative pediatric patients with neurodevelopmental phenotypes is a research paper published in American Journal of Medical Genetics Part A (2024). On theSindex it has a DataRank of 0. It has been cited 5 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access5 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 1.97)OA: hybridTopics (51)IDs (PubMed, PMC, 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 (17)

Eden Yitna Teferedegn ORCID,Dong Li ORCID,Kayla Muirhead,Holly Dubbs ORCID,Jacqueline Leonard ORCID

Live enrichment

PubMed:39031459 PMC:PMC11540733 OpenAlex:https://openalex.org/W4400825021

National Institutes of Health

Grant: T32GM008638

National Institutes of Health

Grant: U54NS115052

National Institutes of Health

Grant: HG013031

NINDS NIH HHS

Grant: U24 NS131172

NHGRI NIH HHS

Grant: R01 HG013031

FWCI

1.97

Citation Percentile

0.9%

Citation Trend

2025

2026

hybridLicense: cc-by-nc-nd

journalhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.63817

publisherhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.63817

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63817

journalhttps://doi.org/10.1002/ajmg.a.63817

repositoryhttps://pubmed.ncbi.nlm.nih.gov/39031459

Fields of Study

Genomics and Rare DiseasesGenetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalitiesHumansExome SequencingNeurodevelopmental DisordersWhole Genome SequencingMaleFemaleInfantChild, PreschoolChildGene DeletionGenetic VariationCodon, Nonsense

MeSH Terms

Whole Genome SequencingExome SequencingAdolescentChildDevelopmental DisabilitiesChild, PreschoolFemaleHumansInfantMalePhenotypeGenetic VariationGene DeletionCodon, NonsenseGenetic Predisposition to DiseaseDNA Copy Number VariationsExomeNeurodevelopmental Disorders

Keywords

Exome sequencingCopy-number variationEpilepsyPhenotypeGeneticsBiologyGeneCohortEtiologyExomeGenomeBioinformaticsMedicineInternal medicineNeuroscienceGenome sequencingNeurodevelopmental DisordersNeurodevelopmental Disability

Sustainable Development Goals

SDG 0: Good health and well-being