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Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches

Genome Research(2025)10.1101/gr.280060.124Source: DataRank Database

Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches is a research paper published in Genome Research (2025). On theSindex it has a DataRank of 0. It has been cited 1 time.

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Open Access1 citations

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Enrichment:Funding (3 grants)OA: bronzeTopics (30)IDs (PubMed, PMC, OpenAlex)Annotations (1)

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Findable (1/2)

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Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (20)

Tabea Riepe ORCID,Nick Zomer,Renee Salz ORCID,Michael Kwint,Jaap Oostrik ORCID

Live enrichment

PubMed:40037841 PMC:PMC12047242 OpenAlex:https://openalex.org/W4408158543

Stichting UitZicht

Grant: 2019-16

CUREUsher

Stichting Ushersyndroom

bronzeLicense: cc-by-nc

journalhttps://genome.cshlp.org/content/early/2025/03/04/gr.280060.124.full.pdf

publisherhttps://genome.cshlp.org/content/early/2025/03/04/gr.280060.124.full.pdf

publisherhttps://syndication.highwire.org/content/doi/10.1101/gr.280060.124

journalhttps://doi.org/10.1101/gr.280060.124

repositoryhttps://pubmed.ncbi.nlm.nih.gov/40037841

Fields of Study

Retinal Development and DisordersRNA regulation and diseaseinterferon and immune responsesHumansUsher SyndromesAlternative SplicingRetinaProtein IsoformsExtracellular Matrix ProteinsHigh-Throughput Nucleotide SequencingRNA, MessengerTranscriptome

MeSH Terms

HumansRetinaRNA, MessengerExtracellular Matrix ProteinsAlternative SplicingProtein IsoformsUsher SyndromesHigh-Throughput Nucleotide SequencingTranscriptome

Keywords

BiologyRetinaGeneticsGene isoformComputational biologyDNA sequencingGeneBioinformaticsNeuroscience

Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches

FAIR Checklist

Authors (20)

Funding (3 grants)

Open Access

Topics

Annotations (Europe PMC)