Evidence map›Paper›PMID 39336746›Full record

ArticleGenes2024

Uncovering a Genetic Diagnosis in a Pediatric Patient by Whole Exome Sequencing: A Modeling Investigation in Wiedemann-Steiner Syndrome.

Ighli di Bari, Caterina Ceccarini, Maria Curcetti, Carla Cesarano, Anna-Irma Croce, Iolanda Adipietro, Maria Grazia Gallicchio, Grazia Pia Palladino, Maria Pia Patrizio, Benedetta Frisoli and 6 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Review
  2. Revisiting Wiedemann-Steiner Syndrome: NovelBalkan medical journal · 2026
    Article
  3. 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

16 authors.

Ighli di BariMedical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy.
Caterina CeccariniMedical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy.
Maria CurcettiMedical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy.
Carla CesaranoMedical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy.
Anna-Irma CroceMedical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy.
Iolanda AdipietroMedical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy.
Maria Grazia GallicchioMedical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy.
Grazia Pia PalladinoMedical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy.
Maria Pia PatrizioMedical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy.
Benedetta FrisoliMedical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy.
Rosa SantacroceMedical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy.
Maria D'ApolitoMedical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy.ORCID 0000-0001-9170-4668
Giovanna D'AndreaMedical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy.
Ombretta Michela CastriotaNeuropsychiatry for Child and Adolescent Unit, Department of Woman and Child, Policlinico Riuniti, 71122 Foggia, Italy.
Ciro Leonardo PierriDepartment of Pharmacy-Pharmaceutical Sciences, University of Bari "Aldo Moro", 70125 Bari, Italy.ORCID 0000-0003-1816-548X
Maurizio MargaglioneMedical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy.

Funding

European Union NextGenerationUE-as part of the PNRR MUR-M4C2-Investimento 1.3-Public Call "Partenariati Estesi"-D.D. n. 341/2022
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Exome SequencingHistone-Lysine N-MethyltransferaseMyeloid-Lymphoid Leukemia ProteinAbnormalities, MultipleChildFemaleHumansIntellectual DisabilityMutation, MissenseHistone-Lysine N-MethyltransferaseKMT2A protein, humanMyeloid-Lymphoid Leukemia ProteinKMT2A genemodelingwhole exome sequencingWiedemann–Steiner syndrome

Identifiers

PMID39336746
PMCPMC11431573

What OpenQuestion holds

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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.