In one paragraphArticle in medRxiv : the preprint server for health sciences, 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
–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
25 authors.
Jacob E MunroGenetics and Gene Regulation Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.ORCID 0000-0002-2751-0989 Harshini ThiyagarajahEpilepsy Research Centre, Department of Medicine (Austin Health), University of Melbourne, Heidelberg, Victoria, Australia.ORCID 0000-0003-1410-7741 Mark F BennettGenetics and Gene Regulation Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.ORCID 0000-0002-3561-6804 Annie T G ChiuEpilepsy Research Centre, Department of Medicine (Austin Health), University of Melbourne, Heidelberg, Victoria, Australia.ORCID 0000-0003-0249-9725 Amy L SchneiderEpilepsy Research Centre, Department of Medicine (Austin Health), University of Melbourne, Heidelberg, Victoria, Australia.
Caitlin A BennettEpilepsy Research Centre, Department of Medicine (Austin Health), University of Melbourne, Heidelberg, Victoria, Australia.ORCID 0000-0002-9109-1483 Nico LiefferingEpilepsy Research Centre, Department of Medicine (Austin Health), University of Melbourne, Heidelberg, Victoria, Australia.
Talia AllanEpilepsy Research Centre, Department of Medicine (Austin Health), University of Melbourne, Heidelberg, Victoria, Australia.ORCID 0000-0002-0970-6750 Tom WitkowskiEpilepsy Research Centre, Department of Medicine (Austin Health), University of Melbourne, Heidelberg, Victoria, Australia.
Rebekah V HarrisGenetics and Gene Regulation Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.ORCID 0000-0002-2648-7828 Joshua ReidGenetics and Gene Regulation Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.ORCID 0000-0003-1925-7474 Neblina SiktaEpilepsy Research Centre, Department of Medicine (Austin Health), University of Melbourne, Heidelberg, Victoria, Australia.
Sian MacdonaldEpilepsy Research Centre, Department of Medicine (Austin Health), University of Melbourne, Heidelberg, Victoria, Australia.
Lucy CoulterEpilepsy Research Centre, Department of Medicine (Austin Health), University of Melbourne, Heidelberg, Victoria, Australia.
Yew Li DangEpilepsy Research Centre, Department of Medicine (Austin Health), University of Melbourne, Heidelberg, Victoria, Australia.ORCID 0000-0002-0570-5398 Piero PeruccaEpilepsy Research Centre, Department of Medicine (Austin Health), University of Melbourne, Heidelberg, Victoria, Australia.ORCID 0000-0002-7855-7066 Samuel F BerkovicEpilepsy Research Centre, Department of Medicine (Austin Health), University of Melbourne, Heidelberg, Victoria, Australia.ORCID 0000-0003-4580-841X Soham SenguptaCenter for Pediatric Neurological Disease Research, Department of Genomic & Translational Neuroscience, St. Jude Children's Research Hospital, Memphis, Tennessee, United States.ORCID 0000-0002-5013-1506 Christy W LaFlammeCenter for Pediatric Neurological Disease Research, Department of Genomic & Translational Neuroscience, St. Jude Children's Research Hospital, Memphis, Tennessee, United States.ORCID 0000-0002-0808-3475 Heather C MeffordCenter for Pediatric Neurological Disease Research, Department of Genomic & Translational Neuroscience, St. Jude Children's Research Hospital, Memphis, Tennessee, United States.ORCID 0000-0001-7188-522X Melanie BahloGenetics and Gene Regulation Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.ORCID 0000-0001-5132-0774 Ingrid E SchefferEpilepsy Research Centre, Department of Medicine (Austin Health), University of Melbourne, Heidelberg, Victoria, Australia.ORCID 0000-0002-2311-2174 Michael S HildebrandEpilepsy Research Centre, Department of Medicine (Austin Health), University of Melbourne, Heidelberg, Victoria, Australia.ORCID 0000-0003-2739-0515 Funding
A multi-omics approach to understanding pediatric epilepsiesF99HG014072 · NHGRI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL GRADUATE SCHOOL OF BIOMEDICAL SCIENCES, LLC · PI Christy LaFlamme · 2025 to 2026
$60kNHGRI NIH HHS F99 HG014072
6 · The paper itselfAbstract
Purpose: Although most developmental and epileptic encephalopathies (DEEs) have a monogenic aetiology, routine clinical genetic testing is negative for 50% of patients. We hypothesized that the diagnostic yield could be increased in a large cohort of individuals with unsolved DEEs by applying genome sequencing along with enhanced variant analyses outside of coding regions. Methods: We performed genome sequencing for 242 participants with DEEs negative on prior genetic testing. We interrogated single nucleotide variants (SNVs), indels, and structural variants in both established and candidate DEE genes. All variants of interest were reviewed, classified, and validated by a multidisciplinary team. Results: A molecular diagnosis was discovered for 36/242 (15%) participants. The pathogenic or likely pathogenic variants comprised 26 SNVs and indels within coding regions, 9 structural variants, and 5 SNVs and indels in introns or non-coding genes. Variants of uncertain significance were detected in a further 10/242 (4%) participants. Conclusion: Genetic diagnostic yield for individuals with unsolved DEEs improves with genome sequencing analysis. This increase reflects both the identification of structural and non-coding variants not detectable on exome or gene panel analysis, and the detection of variants in genes newly associated with DEEs.
Identifiers
PMID42094173
PMCPMC13142584
What OpenQuestion holds
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LicenceCC BY-NC
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