In one paragraphArticle in bioRxiv : the preprint server for biology, 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
5 · Who and what moneyAuthors and funding
18 authors.
Apoorva K IyengarDepartment of Biostatistics and Bioinformatics, Duke University School of Medicine, Durham, NC 27710, USA.ORCID 0000-0001-8465-333X Xue ZouDepartment of Biostatistics and Bioinformatics, Duke University School of Medicine, Durham, NC 27710, USA.ORCID 0000-0002-0512-1341 Jian DaiBiochemical Genetics Laboratory, Duke University Health System, Durham, NC 27710, USA.
Rhodricia A FrancisDepartment of Biostatistics and Bioinformatics, Duke University School of Medicine, Durham, NC 27710, USA.
Alexias SafiDivision of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.
Rebecca L KochDivision of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.ORCID 0000-0002-5387-3185 Shannon ClarkeDepartment of Biostatistics and Bioinformatics, Duke University School of Medicine, Durham, NC 27710, USA.ORCID 0009-0008-8261-7640 M Makenzie BeamanDivision of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.ORCID 0000-0003-4066-2060 William H MajorosDepartment of Biostatistics and Bioinformatics, Duke University School of Medicine, Durham, NC 27710, USA.ORCID 0000-0001-7284-9335 R Catherine RehderDepartment of Pathology, Duke University School of Medicine, Durham, NC 27710, USA.ORCID 0000-0003-4924-9010 Deeksha S BaliBiochemical Genetics Laboratory, Duke University Health System, Durham, NC 27710, USA.ORCID 0000-0003-2550-8073 Andrew S AllenDepartment of Biostatistics and Bioinformatics, Duke University School of Medicine, Durham, NC 27710, USA.ORCID 0000-0002-7232-2143 Gregory E CrawfordDivision of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.ORCID 0000-0001-6106-2772 Priya S KishnaniDivision of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.ORCID 0000-0001-8251-909X Timothy E ReddyDepartment of Biostatistics and Bioinformatics, Duke University School of Medicine, Durham, NC 27710, USA.ORCID 0000-0002-7629-061X Funding
The Duke FUNCTION Center: Pioneering the comprehensive identification of combinatorial noncoding causes of diseaseRM1HG011123 · NHGRI · DUKE UNIVERSITY · PI GREGORY E CRAWFORD, Raluca Gordan · 2020 to 2026
$21.9MHigh-Throughput Functional Annotation of Gene Regulatory Elements and Variants Critical to Complex Cellular PhenotypesUM1HG012053 · NHGRI · DUKE UNIVERSITY · PI GREGORY E CRAWFORD, Charles A. Gersbach · 2021 to 2026
$10.7MIdentifying Pathogenic Non-Coding Mutations in Rare Mendelian DiseaseR21HG010747 · NHGRI · DUKE UNIVERSITY · PI CRAWFORD, GREGORY E, KISHNANI, PRIYA S. · 2019 to 2020
$433kNHGRI NIH HHS R21 HG010747NHGRI NIH HHS RM1 HG011123NHGRI NIH HHS UM1 HG012053
6 · The paper itselfAbstract
Delayed diagnosis of Mendelian disease substantially prevents early therapeutic intervention that could improve symptoms and prognosis. One major contributing challenge is the functional interpretation of non-coding variants that cause disease by altering splicing and/or gene expression. We identified two siblings with glycogen storage disease (GSD) type IX γ2, both of whom had a classic clinical presentation, enzyme deficiency, and a known pathogenic splice acceptor variant on one allele of
Identifiers
PMID40462889
PMCPMC12132531
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