Evidence map›Paper›PMID 41235103›Full record

ReviewCurrent genomics2025

Neurological Insights into 16p11.2- And 22q11.2-Related Disorders: A Mini-Review.

Yung-Hsiu Lu, Yann-Jang Chen, Shan-Ju Lin, Ting-Rong Hsu, Dau-Ming Niu, Wei-Sheng Lin

Abstract readReview
In one paragraph

Review in Current genomics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Review
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

6 authors.

Yung-Hsiu LuDepartment of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
Yann-Jang ChenDepartment of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
Shan-Ju LinDepartment of Physical Medicine and Rehabilitation, National Taiwan University Hospital Yunlin Branch, Yunlin, Taiwan.
Ting-Rong HsuDepartment of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
Dau-Ming NiuDepartment of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
Wei-Sheng LinDepartment of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Copy Number Variations (CNVs) involving 16p11.2 or 22q11.2 are often linked to neurodevelopmental and neuropsychiatric disorders, including autism spectrum disorder, attention deficit hyperactivity disorder, cognitive impairment, epilepsy, and schizophrenia. The pathogenetic mechanisms underlying these neurological phenotypes remain incompletely understood, partly due to the multitude of genes involved and the complex gene-gene interactions at these loci. Nonetheless, recent advances in experimental technology and bioinformatics have greatly enhanced our understanding of the neurobiology of 16p11.2- and 22q11.2-related disorders. Herein, we aim to provide an updated mini-review on neurological aspects of these disease-associated CNVs, with emphasis on clinical and mechanistic insights as well as potential therapeutic implications.

Indexed as

Autismcopy number variantepilepsyintellectual disabilityneurodevelopmental disorderneuropsychiatric disorderschizophrenia

Identifiers

PMID41235103
PMCPMC12606657

What OpenQuestion holds

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Registered trials

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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.