Evidence map›Paper›PMID 32161522›Full record

ArticleFrontiers in integrative neuroscience2020

Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings.

Jeffrey L Neul, Steven A Skinner, Fran Annese, Jane Lane, Peter Heydemann, Mary Jones, Walter E Kaufmann, Daniel G Glaze, Alan K Percy

Open access · goldAbstract read
In one paragraph

Article in Frontiers in integrative neuroscience, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.

0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed
5.0field-weighted citation impact, top 4% 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

32 citing papers in PubMed, 44 citations in OpenAlex.

  1. Article
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  3. Reciprocal regulation of the HbioRxiv : the preprint server for biology · 2025
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  5. Review
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  11. Article
  12. Rett syndrome: The Natural History Study journey.Annals of the Child Neurology Society · 2024
    Review
  13. Article
  14. Review
  15. Article
  16. Article
  17. Article
  18. Article
  19. A case of JOAG in a patient with Rett syndrome.American journal of ophthalmology case reports · 2023
    Article
  20. 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

9 authors at 6 institutions in 1 country.

Jeffrey L NeulVanderbilt University Medical Center, Nashville, TN, United States.
Steven A SkinnerGreenwood Genetic Center, Greenwood, SC, United States.
Fran AnneseGreenwood Genetic Center, Greenwood, SC, United States.
Jane LaneDepartment of Pediatrics, University of Alabama at Birmingham, Birmingham, AL, United States.
Peter HeydemannRush University Medical Center, Chicago, IL, United States.
Mary JonesBenioff Children's Hospital Oakland, University of California, San Francisco, San Francisco, CA, United States.
Walter E KaufmannGreenwood Genetic Center, Greenwood, SC, United States.
Daniel G GlazeBaylor College of Medicine, Houston, TX, United States.
Alan K PercyDepartment of Pediatrics, University of Alabama at Birmingham, Birmingham, AL, United States.
Greenwood Genetic Center · USUniversity of Alabama at Birmingham · USBaylor College of Medicine · USRush University Medical Center · USUniversity of California, San Diego · USUniversity of California, San Francisco · US

Funding

Training and Career Development ComponentU54HD061222 · NICHD · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI PERCY, ALAN KENNETH · 2009 to 2019
$12.4M
RARE DISEASE CRC FOR NEW THERAPIES AND NEW DIAGNOSTICSU54RR019478 · NCRR · BAYLOR COLLEGE OF MEDICINE · PI BEAUDET, ARTHUR L. · 2003 to 2008
$7.3M
Research Project: Sensory and Multisensory Contributions to AutismU54HD083211 · NICHD · VANDERBILT UNIVERSITY MEDICAL CENTER · PI DYKENS, ELISABETH MAY · 2015 to 2019
$7.1M
NCRR NIH HHS U54 RR019478NICHD NIH HHS U54 HD061222NICHD NIH HHS U54 HD083211
6 · The paper itself

Abstract

Rett syndrome (RTT, OMIM 312750), a severe neurodevelopmental disorder characterized by regression with loss of spoken language and hand skills, development of characteristic hand stereotypies, and gait dysfunction, is primarily caused by

Indexed as

amino acidsbiomarker (development)Kreb’s cycle enzymesMeCP2metabolomics (OMICS)neurodevelopmental disordersrett syndromeurea cycle

Identifiers

PMID32161522
PMCPMC7052375
OpenAlexW3007969610

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.