Evidence map›Paper›PMID 41716687›Full record

ArticleGenetics in medicine open2026

Cell modeling and rescue of a novel noncoding genetic cause of glycogen storage disease IX.

Apoorva K Iyengar, Xue Zou, Jian Dai, Rhodricia A Francis, Alexias Safi, Karynne Patterson, Rebecca L Koch, Shannon Clarke, M Makenzie Beaman, Shruthi Mohan and 9 more

Abstract read
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Article in Genetics in medicine open, 2026. 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
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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

19 authors.

Apoorva K IyengarDepartment of Biostatistics and Bioinformatics, Duke University School of Medicine, Durham, NC.
Xue ZouDepartment of Biostatistics and Bioinformatics, Duke University School of Medicine, Durham, NC.
Jian DaiBiochemical Genetics Laboratory, Duke University Health System, Durham, NC.
Rhodricia A FrancisDepartment of Biostatistics and Bioinformatics, Duke University School of Medicine, Durham, NC.
Alexias SafiDivision of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC.
Karynne PattersonDepartment of Genome Sciences, University of Washington, Seattle, WA.
Rebecca L KochDivision of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC.
Shannon ClarkeDepartment of Biostatistics and Bioinformatics, Duke University School of Medicine, Durham, NC.
M Makenzie BeamanDivision of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC.
Shruthi MohanDepartment of Pathology, Duke University School of Medicine, Durham, NC.
Jessica X ChongDepartment of Pediatrics, University of Washington, Seattle, WA.
Michael J BamshadDepartment of Genome Sciences, University of Washington, Seattle, WA.
William H MajorosDepartment of Biostatistics and Bioinformatics, Duke University School of Medicine, Durham, NC.
R Catherine RehderDepartment of Pathology, Duke University School of Medicine, Durham, NC.
Deeksha S BaliBiochemical Genetics Laboratory, Duke University Health System, Durham, NC.
Andrew S AllenDepartment of Biostatistics and Bioinformatics, Duke University School of Medicine, Durham, NC.
Gregory E CrawfordDivision of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC.
Priya S KishnaniDivision of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC.
Timothy E ReddyDepartment of Biostatistics and Bioinformatics, Duke University School of Medicine, Durham, NC.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: Delayed diagnosis of Mendelian disease prevents early therapeutic intervention that could improve symptoms and prognosis. One major contributing challenge is functional interpretation of noncoding variants that alter splicing. Here, we aimed to better understand both how splice altering variants contribute to Mendelian disease and how to identify such mechanisms via an instrumental case study of 2 siblings with glycogen storage disease (GSD) IX γ2. Methods: The siblings had a classic clinical presentation, enzyme deficiency, and a known pathogenic splice variant on 1 allele of Results: In both siblings, we identified a second variant (NC_000016.10:g.30754626T>G [GRCh38]): a deep intronic variant that caused a 76-bp pseudoexon inclusion in Conclusion: As evidenced by RNA sequencing, population and allelic segregation data, and phenotyping of an isogenic cell culture model of the variant, we concluded that

Indexed as

Antisense therapyCryptic splicingDiagnostic sequencingGlycogen storage diseaseNoncoding variants

Identifiers

PMID41716687
PMCPMC12914195

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LicenceCC BY-NC-ND
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Registered trials

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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.