ArticleGenome research2025
Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches.
Merel Stemerdink, Tabea Riepe, Nick Zomer, Renee Salz, Michael Kwint, Jaap Oostrik, Raoul Timmermans, Barbara Ferrari, Stefano Ferrari, Alfredo Dueñas Rey and 10 more
Abstract read
In one paragraphArticle in Genome research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
2 · The registryThe trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
3 · Its place in the literatureWho cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
4 · The recordCorrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what moneyAuthors and funding
20 authors.
Merel StemerdinkDepartment of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands.ORCID 0000-0002-9222-740X Tabea RiepeDepartment of Medical BioSciences, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands.ORCID 0000-0002-6509-7013 Nick ZomerDepartment of Human Genetics, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands.ORCID 0009-0003-0181-3900 Renee SalzDepartment of Medical BioSciences, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands.ORCID 0000-0003-1035-7866 Michael KwintDepartment of Human Genetics, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands.
Jaap OostrikDepartment of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands.
Raoul TimmermansDepartment of Human Genetics, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands.
Barbara FerrariFondazione Banca degli Occhi del Veneto, Zelarino, Venice 30174, Italy.
Stefano FerrariFondazione Banca degli Occhi del Veneto, Zelarino, Venice 30174, Italy.
Emma DelanoteCenter for Medical Genetics, Ghent University Hospital, Ghent 9000, Belgium.
Suzanne E de BruijnDepartment of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands.ORCID 0000-0003-2912-9265 Hannie KremerDepartment of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands.ORCID 0000-0002-0841-8693 Susanne RoosingDepartment of Human Genetics, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands.ORCID 0000-0001-9038-0067 Alexander HoischenDepartment of Human Genetics, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands.ORCID 0000-0002-8072-4476 Frans P M CremersDepartment of Human Genetics, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands.ORCID 0000-0002-4954-5592 Peter A C 't HoenDepartment of Medical BioSciences, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands.ORCID 0000-0003-4450-3112 Erwin van Wijk *Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands.ORCID 0000-0002-5702-3460 Erik de Vrieze *Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands; erik.devrieze@radboudumc.nl.ORCID 0000-0003-3448-3269 Funding
No grant is acknowledged in the PubMed record.
6 · The paper itselfAbstract
Sequencing technologies have long limited the comprehensive investigation of large transcripts associated with inherited retinal diseases (IRDs) like Usher syndrome, which involves 11 associated genes with transcripts up to 19.6 kb. To address this, we used PacBio long-read mRNA isoform sequencing (Iso-Seq) following standard library preparation and an optimized workflow to enrich for long transcripts in the human neural retina. While our workflow achieved sequencing of transcripts up to 15 kb, this was insufficient for Usher syndrome-associated genes
Indexed as
RetinaUsher SyndromesAlternative SplicingExtracellular Matrix ProteinsHigh-Throughput Nucleotide SequencingHumansProtein IsoformsRNA, MessengerTranscriptomeExtracellular Matrix ProteinsProtein IsoformsRNA, MessengerUSH2A protein, human
Identifiers
PMID40037841
PMCPMC12047242
What Socratic holds
Textmetadata
LicenceCC BY-NC
Read underepoch 390