Evidence map›Paper›PMID 39923316›Full record

ReviewCurrent opinion in genetics & development2025

Exploring the connection between RNA splicing and intellectual disability.

Anthony Caputo, Ashleigh E Schaffer

Abstract readReview
In one paragraph

Review in Current opinion in genetics & development, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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 registry

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.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors.

Anthony CaputoDepartment of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, Ohio, United States.
Ashleigh E SchafferDepartment of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, Ohio, United States. Electronic address: ashleigh.schaffer@case.edu.

Funding

Disease Mechanisms of Pontocerebellar Hypoplasia Type 10R01NS123524 · NINDS · CASE WESTERN RESERVE UNIVERSITY · PI SCHAFFER, ASHLEIGH E · 2021 to 2025
$2.6M
Functional Genomics Training Program (FGTP)T32GM135081 · NIGMS · CASE WESTERN RESERVE UNIVERSITY · PI Thomas Louis LaFramboise, Helen C Miranda · 2020 to 2026
$1.3M
Developing single nuclei tRNA-seq to profile tRNA diversity at the single cell levelR21NS139431 · NINDS · CASE WESTERN RESERVE UNIVERSITY · PI SCHAFFER, ASHLEIGH E, SWEET, THOMAS J · 2024 to 2024
$443k
NIGMS NIH HHS T32 GM135081NINDS NIH HHS R01 NS123524NINDS NIH HHS R21 NS139431
6 · The paper itself

Abstract

Intellectual disability (ID) is a broad diagnostic category that encompasses individuals with impaired cognitive ability. While these disorders have heterogeneous causes, recent developments in next-generation sequencing (NGS) are revealing the prevalence of genetic etiologies. In particular, germline mutations in genes that affect RNA splicing are increasingly common causes of ID disorders. Research to elucidate the functional relationship between splicing and neurodevelopment is critical since molecular therapeutics require a nuanced understanding of the pathological mechanism. In this review, we first summarize the trends that have led to the discovery of the RNA splicing-ID relationship, then discuss recent progress and future directions for research surrounding RNA splicing in neurodevelopment. Finally, we speak on how these results may serve as the foundation for burgeoning therapies.

Indexed as

Intellectual DisabilityRNA SplicingGerm-Line MutationHigh-Throughput Nucleotide SequencingHumans

Identifiers

PMID39923316
PMCPMC12182228

What OpenQuestion holds

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LicenceCC BY
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Registered trials

None linked

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.