ReviewEMBO reports2009
Missed threads. The impact of pre-mRNA splicing defects on clinical practice.
Review in EMBO reports, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers.
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.
The 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.
Who cites it
67 citing papers in PubMed.
- Targeted gene editing ofMolecular therapy. Nucleic acids · 2026Article
- HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders.European journal of human genetics : EJHG · 2026Article
- Experimental Mis-Splicing Assessment and ACMG/AMP-Guided Classification of 47International journal of molecular sciences · 2026Article
- Cell modeling and rescue of a novel noncoding genetic cause of glycogen storage disease IX.Genetics in medicine open · 2026Article
- Unproductive alternative splicing of ATM exon 7: mapping of critical regulatory elements and identification of 34 spliceogenic variants.Journal of molecular medicine (Berlin, Germany) · 2025Article
- Characterization of Variants of Uncertain Significance in ACADVL Gene From a Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency Patient.Molecular genetics & genomic medicine · 2025Article
- Comprehensive Splice Pattern Analysis for Previously ReportedKidney international reports · 2025Article
- Data-driven insights to inform splice-altering variant assessment.American journal of human genetics · 2025Article
- All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.Nucleic acids research · 2024Article
- Functional Characterization of Two Novel Intron 4Biomedicines · 2023Article
- Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications.Genome biology · 2023Article
- Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry.European journal of human genetics : EJHG · 2023Article
- Splicing Analysis of 16Cancers · 2022Article
- Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants.The Journal of pathology · 2022Article
- Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease.Human molecular genetics · 2022Article
- Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants.The Journal of pathology · 2022Article
- Review
- A deep intronic splice variant of theFrontiers in pediatrics · 2022Article
- PresumedFrontiers in medicine · 2022Article
- A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series.BMC nephrology · 2021Article
7 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
Abstract
PubMed holds no abstract for this paper.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.