Evidence map›Paper›PMID 36276984›Full record

ArticleFrontiers in genetics2022

Neurobehavioral phenotype of Kabuki syndrome: Anxiety is a common feature.

Allison J Kalinousky, Tyler Rapp, Hadia Hijazi, Jennifer Johnson, Hans Tomas Bjornsson, Jacqueline R Harris

Open access · goldAbstract read
In one paragraph

Article in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
2.8field-weighted citation impact, top 9% 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

8 citing papers in PubMed, 16 citations in OpenAlex.

  1. Article
  2. Article
  3. Associations Between Executive Functioning, Behavioral Functioning, and Adaptive Functioning Difficulties in Wiedemann-Steiner Syndrome.Archives of clinical neuropsychology : the official journal of the National Academy of Neuropsychologists · 2024
    Article
  4. Attention challenges in Kabuki syndrome.Journal of intellectual disability research : JIDR · 2024
    Article
  5. Review
  6. Anxiety in Wiedemann-Steiner syndrome.American journal of medical genetics. Part A · 2023
    Article
  7. Article
  8. Sleep disturbance is a common feature of Kabuki syndrome.American journal of medical genetics. Part A · 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

6 authors at 4 institutions in 2 countries.

Allison J KalinouskyMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, United States.
Tyler RappUniversity of North Carolina School of Medicine, University of North Carolina, Chapel Hill, NC, United States.
Hadia HijaziMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, United States.
Jennifer JohnsonKennedy Krieger Institute, Baltimore, MD, United States.
Hans Tomas BjornssonMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, United States.
Jacqueline R HarrisMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, United States.
Johns Hopkins University · USKennedy Krieger Institute · USNational University Hospital of Iceland · ISUniversity of North Carolina at Chapel Hill · US

Funding

Preparing for a Clinical Trial in Kabuki Syndrome- Characterization of Cognitive and Neuroanatomical Features and Pilot Treatment TrialK23HD101646 · NICHD · HUGO W. MOSER RES INST KENNEDY KRIEGER · PI HARRIS, JACQUELINE · 2020 to 2024
$843k
NICHD NIH HHS K23 HD101646
6 · The paper itself

Abstract

Kabuki syndrome (KS) is a Mendelian Disorder of the Epigenetic Machinery (MDEM) caused by loss of function variants in either of two genes involved in the regulation of histone methylation,

Indexed as

epigeneticsKDM6AKMT2D (MLL2)mendelian diseaseneurodevelopment disorder

Identifiers

PMID36276984
PMCPMC9582441
OpenAlexW4302303618

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.