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Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes

npj Genomic Medicine(2024)10.1038/s41525-024-00454-4Source: DataRank Database

Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes is a research paper published in npj Genomic Medicine (2024). On theSindex it has a DataRank of 0. It has been cited 12 times.

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Open Access12 citations

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datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (2 grants)Impact (FWCI 5.62)OA: goldTopics (26)IDs (PubMed, PMC, OpenAlex)Annotations (2)

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 (16)

Maria Elena Hernandez‐Gonzalez ORCID,Swetha Ramadesikan ORCID,Mohammad Marhabaie ORCID,Allison C. Daley ORCID,Leeran Dublin-Ryan

Live enrichment

PubMed:39695126 PMC:PMC11655636 OpenAlex:https://openalex.org/W4405516818

NIDCR NIH HHS

Grant: R01 DE027091

National Institutes of Health

Grant: 5R01DE027091-04

Forward genetic analysis of congenital craniofacial malformations

FWCI

5.62

Citation Percentile

1.0%

Citation Trend

2025

2026

goldLicense: cc-by-nc-nd

journalhttps://www.nature.com/articles/s41525-024-00454-4.pdf

publisherhttps://www.nature.com/articles/s41525-024-00454-4.pdf

publisherhttps://www.nature.com/articles/s41525-024-00454-4

journalhttps://doi.org/10.1038/s41525-024-00454-4

repositoryhttps://pubmed.ncbi.nlm.nih.gov/39695126

Fields of Study

Genomic variations and chromosomal abnormalitiesGenomics and Rare DiseasesChromosomal and Genetic Variations0303 health sciences03 medical and health sciences

Keywords

Gene duplicationCopy-number variationGeneticsBiologyGene rearrangementChromosomal rearrangementStructural variationGenomeWhole genome sequencingComputational biologyTandem exon duplicationSegmental duplicationDNA sequencingChromosomeGeneKaryotypeGene familyRMedicineQH426-470Article

Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes

FAIR Checklist

Authors (16)

Funding (2 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)