Evidence map›Paper›PMID 42125344›Full record

ArticleMolecular syndromology2026

Zehra Manav Yigit, Pelin Ozyavuz Cubuk, Kamil Utku Bayrak, Mehmet Bugrahan Duz, Adnan Yuksel

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

Article in Molecular syndromology, 2026. 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

5 authors.

Zehra Manav YigitDepartment of Medical Genetics, Faculty of Medicine, Aydin Adnan Menderes University, Aydin, Türkiye.
Pelin Ozyavuz CubukDepartment of Medical Genetics, Istanbul Haseki Training and Research Hospital, University of Health Sciences, Istanbul, Türkiye.
Kamil Utku BayrakDepartment of Medical Genetics, Faculty of Medicine, Aydin Adnan Menderes University, Aydin, Türkiye.
Mehmet Bugrahan DuzDepartment of Pediatrics, Harvard Medical School, Boston Children's Hospital, Boston, MA, USA.
Adnan YukselDepartment of Pediatric Neurology, Faculty of Medicine, Biruni University, Istanbul, Türkiye.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Case Presentation: We describe two unrelated girls harboring novel de novo truncating Conclusion: These cases expand the mutational spectrum of

Indexed as

CHAMP1CHAMP1-related neurodevelopmental disorderNovel variantRare disease

Identifiers

PMID42125344
PMCPMC13160560

What Socratic holds

Textmetadata
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 Socratic graph.