Evidence map›Paper›PMID 35052493›Full record

ArticleGenes2022

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.

Dóra Nagy, Sarah Verheyen, Kristen M Wigby, Artem Borovikov, Artem Sharkov, Valerie Slegesky, Austin Larson, Christina Fagerberg, Charlotte Brasch-Andersen, Maria Kibæk and 12 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing 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

14 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Translational pediatrics · 2026
    Article
  5. Article
  6. Review
  7. Article
  8. Article
  9. Article
  10. Article
  11. Review
  12. Auditory Neuropathy Spectrum Disorder in the White Sutton Syndrome.The journal of international advanced otology · 2023
    Article
  13. Review
  14. A NovelThe application of clinical genetics · 2022
    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

22 authors.

Dóra NagyInstitute of Medical Genetics, Kepler University Hospital Med Campus IV, Johannes Kepler University Linz, A-4020 Linz, Austria.ORCID 0000-0002-6224-1972
Sarah VerheyenInstitute of Human Genetics, Diagnostic and Research Center for Molecular BioMedicine, Medical University of Graz, 8010 Graz, Austria.
Kristen M WigbyDepartment of Pediatrics, University of California, San Diego, CA 92161, USA.
Artem BorovikovResearch Centre for Medical Genetics, 115478 Moscow, Russia.ORCID 0000-0001-5871-8005
Artem SharkovVeltischev Research and Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, 125412 Moscow, Russia.ORCID 0000-0002-0980-2638
Valerie SlegeskyDepartment of Pediatrics, Section of Clinical Genetics and Metabolism, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO 80045, USA.
Austin LarsonDepartment of Pediatrics, Section of Clinical Genetics and Metabolism, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO 80045, USA.
Christina FagerbergDepartment of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark.ORCID 0000-0002-5206-4327
Charlotte Brasch-AndersenDepartment of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark.ORCID 0000-0003-4273-0047
Maria KibækH C Andersen Children's Hospital, Odense University Hospital, 5000 Odense, Denmark.
Ingrid BaderInstitute of Human Genetics, University Hospital, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, A-5020 Salzburg, Austria.
Rebecca HernanDepartment of Pediatrics, Columbia University, Irving Medical Center, New York, NY 10032, USA.
Frances A HighDivision of Genetics, Massachusetts General Hospital, Boston, MA 02114, USA.
Wendy K ChungDepartment of Pediatrics and Medicine, Columbia University, New York, NY 10032, USA.ORCID 0000-0003-3438-5685
Jolanda H SchievingDepartment of Pediatric Neurology, Radboud University Hospital Nijmegen, 6525 Nijmegen, The Netherlands.
Jana BehunovaInstitute of Medical Genetics, Medical University of Vienna, 1090 Vienna, Austria.
Mateja SmogavecInstitute of Medical Genetics, Medical University of Vienna, 1090 Vienna, Austria.
Franco LacconeInstitute of Medical Genetics, Medical University of Vienna, 1090 Vienna, Austria.
Martina Witsch-BaumgartnerDivision of Human Genetics, Medical University Innsbruck, 6020 Innsbruck, Austria.ORCID 0000-0002-9379-5345
Joachim ZobelDepartment of Pediatrics, Division of General Pediatrics, Medical University of Graz, 8036 Graz, Austria.
Hans-Christoph DubaInstitute of Medical Genetics, Kepler University Hospital Med Campus IV, Johannes Kepler University Linz, A-4020 Linz, Austria.
Denisa WeisInstitute of Medical Genetics, Kepler University Hospital Med Campus IV, Johannes Kepler University Linz, A-4020 Linz, Austria.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Genetic Association StudiesMutationAdolescentAdultCase-Control StudiesCell Cycle ProteinsChildChild, PreschoolDNA-Binding ProteinsFemaleHumansInfantInfant, NewbornMaleNeurodevelopmental DisordersTransposasesCell Cycle ProteinsDNA-Binding ProteinsPOGZ protein, humanTransposasesclinical scoringdeep facial gestalt analysisgenotype-phenotype associationneurodevelopmental disordernonsense-mediated RNA decayPOGZ geneWhite-Sutton syndrome

Identifiers

PMID35052493
PMCPMC8775410

What OpenQuestion holds

Textmetadata
LicenceCC BY
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 OpenQuestion graph.