Evidence map›Paper›PMID 38790223›Full record

ArticleGenes2024

Normalized Clinical Severity Scores Reveal a Correlation between X Chromosome Inactivation and Disease Severity in Rett Syndrome.

Jonathan K Merritt, Xiaolan Fang, Raymond C Caylor, Steven A Skinner, Michael J Friez, Alan K Percy, Jeffrey L Neul

Abstract read
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 8 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 1 pooled it
–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

8 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Review
  3. Review
  4. Article
  5. Review
  6. Article
  7. Article
  8. 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

7 authors.

Jonathan K MerrittDepartment of Pediatrics, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
Xiaolan FangDepartment of Pathology, Henry Ford Health System, Detroit, MI 48202, USA.ORCID 0000-0002-7056-7585
Raymond C CaylorGreenwood Genetic Center, Greenwood, SC 29646, USA.
Steven A SkinnerGreenwood Genetic Center, Greenwood, SC 29646, USA.
Michael J FriezGreenwood Genetic Center, Greenwood, SC 29646, USA.
Alan K PercyDepartment of Pediatrics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Jeffrey L NeulDepartment of Pediatrics, Vanderbilt University Medical Center, Nashville, TN 37232, USA.ORCID 0000-0002-5628-5872

Funding

Training and Career Development ComponentU54HD061222 · NICHD · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI PERCY, ALAN KENNETH · 2009 to 2019
$12.4M
Overall: Eunice Kennedy Shriver Intellectual and Developmental Disabilities Research Center at VanderbiltP50HD103537 · NICHD · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Lea K Davis · 2020 to 2026
$10.3M
Program in NeurogenomicsT32MH065215 · NIMH · VANDERBILT UNIVERSITY · PI ROGER J COLBRAN · 2002 to 2026
$6.4M
International Rett syndrome Foundation 2901NICHD NIH HHS P50 HD103537NICHD NIH HHS U54 HD061222NIH HHS 5P50HD103537-04A1NIH HHS 5T32MH065215-20A1NIH HHS 5U54HD061222-15A1NIMH NIH HHS T32 MH065215
6 · The paper itself

Abstract

Rett Syndrome (RTT) is a severe neurodevelopmental disorder predominately diagnosed in females and primarily caused by pathogenic variants in the X-linked gene

Indexed as

Methyl-CpG-Binding Protein 2Rett SyndromeSeverity of Illness IndexX Chromosome InactivationAdolescentAdultAllelesChildChild, PreschoolChromosomes, Human, XFemaleGenotypeHumansMaleYoung AdultMECP2 protein, humanMethyl-CpG-Binding Protein 2longitudinal modelingRett syndromeX chromosome inactivation

Identifiers

PMID38790223
PMCPMC11120815

What OpenQuestion holds

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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.