Evidence map›Paper›PMID 36813544›Full record

ArticleJournal of medical genetics2023

Germline pathogenic

Leora Witkowski, Kim E Nichols, Marjolijn Jongmans, Nienke van Engelen, Ronald R de Krijger, Jennifer Herrera-Mullar, Lieve Tytgat, Armita Bahrami, Helen Mar Fan, Aimee L Davidson and 5 more

Open access · greenAbstract read
In one paragraph

Article in Journal of medical genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
3.7field-weighted citation impact, top 6% of its field
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

12 citing papers in PubMed, 18 citations in OpenAlex.

  1. Rare solid tumours as indicators of hereditary cancer syndromes.European journal of human genetics : EJHG · 2026
    Review
  2. Article
  3. Article
  4. Article
  5. Review
  6. Epigenetic crosstalk in neuroblastoma development and progression.Frontiers in cell and developmental biology · 2026
    Review
  7. Review
  8. Article
  9. Update on Cancer Predisposition Syndromes and Surveillance Guidelines for Childhood Brain Tumors.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024
    Review
  10. Review
  11. A Novel DNA Variant inInternational journal of molecular sciences · 2024
    Article
  12. 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

15 authors at 11 institutions in 5 countries.

Leora Witkowski *Core Molecular Diagnostic Laboratory, McGill University Health Centre, Montreal, Québec, Canada.ORCID 0000-0002-5736-2534
Kim E Nichols *Department of Oncology, St Jude Children's Research Hospital, Memphis, Tennessee, USA.ORCID 0000-0002-5581-6555
Marjolijn JongmansDepartment of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.ORCID 0000-0001-6572-4374
Nienke van EngelenPrincess Maxima Center for Pediatric Oncology, Utrecht, The Netherlands.
Ronald R de KrijgerPrincess Maxima Center for Pediatric Oncology, Utrecht, The Netherlands.
Jennifer Herrera-MullarAmbry Genetics Corp, Aliso Viejo, California, USA.
Lieve TytgatPrincess Maxima Center for Pediatric Oncology, Utrecht, The Netherlands.
Armita BahramiDepartment of Pathology and Laboratory Medicine, Emory University School of Medicine, Atlanta, Georgia, USA.
Helen Mar FanGenetic Health Queensland, The University of Queensland, Brisbane, Queensland, Australia.
Aimee L DavidsonFaculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia.
Thomas RobertsonFaculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia.
Michael AndersonInvitae Corporation, San Francisco, California, USA.
Martin HasselblattInstitute of Neuropathology, University Hospital Münster, Münster, Germany.
Sharon E PlonDepartment of Pediatrics/Hematology-Oncology, Baylor College of Medicine, Houston, Texas, USA.
William D FoulkesLady Davis Institute and Segal Cancer Centre, Sir Mortimer B Davis Jewish General Hospital, Montreal, Québec, Canada william.foulkes@mcgill.ca.ORCID 0000-0001-7427-4651
McGill University Health Centre · CAPrincess Máxima Center · NLQueensland Health · AUUniversity Medical Center Utrecht · NLAmbry Genetics (United States) · USBaylor College of Medicine · USEmory University · USInvitae (United States) · USSt. Jude Children's Research Hospital · USThe University of Queensland · AUUniversity Hospital Münster · DE

Funding

Measuring Perceptions of Utility of Clinical Genome Sequencing: Instrument Testing and ValidationU01HG006485 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI MCGUIRE, AMY L, PARSONS, DONALD W. · 2012 to 2021
$22.1M
NHGRI NIH HHS U01 HG006485
6 · The paper itself

Abstract

Heterozygous germline pathogenic variants (GPVs) in

Indexed as

Carcinoma, Small CellNeuroblastomaAdolescentAdultBiomarkers, TumorChildChild, PreschoolDNA HelicasesFemaleGerm-Line MutationHumansInfantMaleNuclear ProteinsTranscription FactorsYoung AdultBiomarkers, TumorDNA HelicasesNuclear ProteinsSMARCA4 protein, humanTranscription FactorsGenetic Predisposition to DiseaseGenetic TestingGerm-Line MutationPediatricsSequence Analysis, DNA

Identifiers

PMID36813544
PMCPMC10570933
OpenAlexW4321489383

What Socratic holds

Textmetadata
LicenceTDM
Read underepoch 390

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 Socratic graph.