Evidence map›Paper›PMID 41898828›Full record

ReviewGenes2026

De Novo Heterozygous

Haixia Miao, Ting Zhang, Shuai Chen, Xiaocha Xu, Kexin Fang, Dingwen Wu, Yi Zhang, Xinwen Huang

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

Review 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

8 authors.

Haixia MiaoDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Disease, Hangzhou 310051, China.
Ting ZhangDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Disease, Hangzhou 310051, China.
Shuai ChenDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Disease, Hangzhou 310051, China.
Xiaocha XuDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Disease, Hangzhou 310051, China.
Kexin FangDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Disease, Hangzhou 310051, China.
Dingwen WuDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Disease, Hangzhou 310051, China.
Yi ZhangDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Disease, Hangzhou 310051, China.
Xinwen HuangDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Disease, Hangzhou 310051, China.

Funding

Xinwen Huang No. 2024C03152 to H.F.
6 · The paper itself

Abstract

backgroundPathogenic variants in

methodsThe general characteristics of four patients were recorded, including clinical features, child development, neuropsychological assessment and therapeutic interventions. Whole exome sequencing (WES) was performed for potential genetic causes and interpretation of variants was performed in accordance with ACMG guidelines.

resultsAll patients carried de novo variants in the

conclusionsOur results broaden the mutational spectrum of

Indexed as

Autism Spectrum DisorderGrowth DisordersIntellectual DisabilityJumonji Domain-Containing Histone DemethylasesMutationChild, PreschoolExome SequencingHeterozygoteHumansPhenotypeJumonji Domain-Containing Histone DemethylasesKDM3B protein, humanDiets-Jongmans syndromegrowth retardationKDM3B genewhole-exome sequencing

Identifiers

PMID41898828
PMCPMC13025784

What OpenQuestion holds

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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.