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Genome sequencing reveals the impact of pseudoexons in rare genetic disease

medRxiv(2024)10.1101/2024.12.21.24318325Source: DataRank Database

Genome sequencing reveals the impact of pseudoexons in rare genetic disease is a research paper published in medRxiv (2024). On theSindex it has a DataRank of 0. It has been cited 3 times.

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Open Access3 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (8 grants)OA: greenTopics (36)IDs (PubMed, OpenAlex)

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Authors (25)

Megan Hawley ORCID,Light Auriga,Ivan De Dios,Arthur Ko ORCID,Sofia Marmolejos

Live enrichment

PubMed:39763557 OpenAlex:https://openalex.org/W4405806950

National Institutes of Health

Grant: 1U24HG011746-01

University of Washington (UW) Mendelian Genomics Data Coordinating Center

National Institutes of Health

Grant: 1P30EY014104-01

CORE--CLINICAL INTERFACE

National Institutes of Health

Grant: 7U01HG011745-03

Pediatric Mendelian Genomics Research Center

National Institutes of Health

Grant: 1R01EY035717-01A1

Finding Missing Genetic Causality of Inherited Retinal Degenerations

NEI NIH HHS

Grant: P30 EY014104

NEI NIH HHS

Grant: R01 EY035717

NHGRI NIH HHS

Grant: U01 HG011745

NHGRI NIH HHS

Grant: U24 HG011746

greenLicense: cc-by

repositoryhttps://www.medrxiv.org/content/medrxiv/early/2024/12/26/2024.12.21.24318325.full.pdf

publisherhttps://syndication.highwire.org/content/doi/10.1101/2024.12.21.24318325

repositoryhttps://doi.org/10.1101/2024.12.21.24318325

repositoryhttps://pubmed.ncbi.nlm.nih.gov/39763557

Fields of Study

Genomics and Rare DiseasesCardiomyopathy and Myosin StudiesConnective tissue disorders research0303 health sciences03 medical and health sciences

Keywords

ExonGeneticsDiseaseGenomeBiologyComputational biologyGeneMedicineInternal medicineMaleCardiomyopathy, DilatedWhole Genome SequencingGenome, HumanGenetic Diseases, InbornAortic DiseasesHigh-Throughput Nucleotide SequencingExonsSequence Analysis, DNAArticleIntronsRare DiseasesExome SequencingHumansFemaleGenetic Predisposition to DiseaseGenetic TestingRNA sequencinggenome sequencingintronic variantspseudoexonrare disease