Evidence map›Paper›PMID 41595501›Full record

ArticleGenes2026

Beyond Neurodevelopmental Delay:

Hua Wang

Abstract readCase Reports
In one paragraph

Article in Genes, 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

1 author.

Hua WangDivision of Genetics, Department of Pediatrics, School of Medicine, Loma Linda University, 11175 Campus Street, CP 11121E, Loma Linda, CA 92350, USA.

Funding

Loma Linda University School of Medicine, GCAT Account number: PPM#1001276.
6 · The paper itself

Abstract

backgroundCoffin-Siris syndrome 12 (CSS12) is a recently described neurodevelopmental disorder caused by heterozygous pathogenic variants in CASE DESCRIPTION: We report a 22-year-old male with a de novo

conclusionsThis case expands the phenotypic spectrum of

Indexed as

Abnormalities, MultipleFaceHand Deformities, CongenitalIntellectual DisabilityMicrognathismNeckPneumothoraxDevelopmental DisabilitiesFrameshift MutationHumansMaleNeurodevelopmental DisordersPhenotypeYoung AdultBICRAchromatin remodelingCoffin–Siris syndrome 12expanded phenotypegastrointestinal dysmotilitylong-term follow-uppneumothorax

Identifiers

PMID41595501
PMCPMC12841204

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.