Genetic testing and analysis of 1024 children with global developmental delay or intellectual disability: a single-center cohort study

Bing Wang, Xinna Ji, Fan Wu, Mengyao Shen, Ping Zheng, Shuo Feng, Huanhuan Wu, Shupin Li, Aijie Liu, Lina Xie, Xue Zhang, Qian Chen · 2026

Read Genetic testing and analysis of 1024 children with global developmental delay or intellectual disability: a single-center cohort study by Bing Wang, Xinna Ji, Fan Wu, Mengyao Shen, Ping Zheng, Shuo Feng, Huanhuan Wu, Shupin Li, Aijie Liu, Lina Xie, Xue Zhang, Qian Chen (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13242393.txt.

Description

Wang's team in Beijing profiled the genes of over a thousand young children with global developmental delay or intellectual disability. Trio exomes, solo exomes, and clinical exome panels were used across the one-center cohort. Traits were sorted into subgroups. Found genes went through pathway checks.

Nearly half the children got a firm gene-based answer. Trio tests found far more than child-only tests. Culprit genes clustered around protein balance, synapses, ion channels, and epigenetic control. Epilepsy cases enriched notably for synaptic genes; face-shape cases for gene-switch control genes. All were seen at one Beijing hospital.

Catalog record

CREATORBing Wang, Xinna Ji, Fan Wu, Mengyao Shen, Ping Zheng, Shuo Feng, Huanhuan Wu, Shupin Li, Aijie Liu, Lina Xie, Xue Zhang, Qian Chen
YEAR2026
COLLECTIONPAPERS
FORMATTXT
FILE SIZE40 KB
VERSION1.0
LICENSECC BY 4.0
RIGHTSCC BY
SOURCEEurope PMC

Source: https://europepmc.org/articles/PMC13242393

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