Evidence map›Paper›PMID 40496977›Full record

ArticleHuman mutation2025

Elaine Zhang, Teresa Zhao, Tim Sikora, Carolyn Ellaway, Wendy A Gold, Nicole J Van Bergen, David A Stroud, John Christodoulou, Simranpreet Kaur

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Elaine ZhangDepartment of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.ORCID 0009-0008-8126-3190
Teresa ZhaoDepartment of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.ORCID 0000-0002-3445-3898
Tim SikoraMurdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.ORCID 0000-0002-7445-9207
Carolyn EllawayGenetic Metabolic Service, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.ORCID 0000-0002-5752-5698
Wendy A GoldFaculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.ORCID 0000-0003-1808-0646
Nicole J Van BergenDepartment of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.ORCID 0000-0002-6768-3665
David A StroudMurdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.ORCID 0000-0002-2048-3383
John ChristodoulouDepartment of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.ORCID 0000-0002-8431-0641
Simranpreet KaurDepartment of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.ORCID 0000-0002-0689-2965

Funding

Medical Research Council
6 · The paper itself

Abstract

Rett syndrome (RTT) is a rare, X-linked, severe neurodevelopmental disorder, predominantly associated with pathogenic variants in the methyl-CpG-binding protein-2 (

Indexed as

DNA-Binding ProteinsMutationRett SyndromeFemaleHumansInfant, NewbornMethyl-CpG-Binding Protein 2PedigreePhenotypeTranscription FactorsCHD8 protein, humanDNA-Binding ProteinsMECP2 protein, humanMethyl-CpG-Binding Protein 2Transcription Factors

Identifiers

PMID40496977
PMCPMC12149508

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.