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Concordance of Whole-Genome Long-Read Sequencing with Standard Clinical Testing for Prader-Willi and Angelman Syndromes

Journal of Molecular Diagnostics(2025)10.1016/j.jmoldx.2024.12.003Source: DataRank Database

Concordance of Whole-Genome Long-Read Sequencing with Standard Clinical Testing for Prader-Willi and Angelman Syndromes is a research paper published in Journal of Molecular Diagnostics (2025). On theSindex it has a DataRank of 0.292. It has been cited 6 times.

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0.292DataRank · unranked

Scored on demand from live citation data

Open Access6 citations

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datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (2 grants)OA: greenTopics (16)IDs (PubMed, PMC)Annotations (3)

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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DataRank Breakdown

Base Score 100%Citation Network 0%

Base Score Contribution

0.292

From this paper's citation signal

Citation Network Contribution

Citation network not refreshed for this result

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Authors (9)

Miranda P.G. Zalusky,Anita E. Beck ORCID,Madelyn A. Gillentine ORCID,Jaya Narayanan,Nikhita Damaraju ORCID

Live enrichment

PubMed:39756651 PMC:PMC11881775

National Institutes of Health

Grant: DP5OD033357

Seattle Children's Hospital

greenLicense: http://www.elsevier.com/open-access/userlicense/1.0/

repositoryhttps://pmc.ncbi.nlm.nih.gov/articles/PMC11881775/

publisherhttps://api.elsevier.com/content/article/PII:S1525157825000017?httpAccept=text/xml

publisherhttps://api.elsevier.com/content/article/PII:S1525157825000017?httpAccept=text/plain

MeSH Terms

Chromosomes, Human, Pair 15HumansAngelman SyndromePrader-Willi SyndromeUbiquitin-Protein LigasesDNA MethylationCpG IslandsPolymorphism, Single NucleotideChildChild, PreschoolFemaleMaleGenetic TestingDNA Copy Number VariationsHigh-Throughput Nucleotide SequencingWhole Genome Sequencing

Concordance of Whole-Genome Long-Read Sequencing with Standard Clinical Testing for Prader-Willi and Angelman Syndromes

FAIR Checklist

DataRank Breakdown

Authors (9)

Funding (2 grants)

Open Access

Topics

Annotations (Europe PMC)