Genetic Characterization of 128 Chinese Individuals with Neurodevelopmental Disorders via Whole-Exome Sequencing
Integrating CNV analysis into routine WES workflows effectively clarifies the genetic heterogeneity of NDDs, expands the gene variant spectrum, and provides a basis for NDD prognosis assessment and precision diagnosis and treatment.
Authors
- Xiaoyan Wang
- Jieping Song (ORCID: https://orcid.org/0000-0001-5926-9037)
- Yayun Qin
- Runhong Xu
- Meiqi Yi
- Cao Huang (ORCID: https://orcid.org/0000-0001-7033-2498)
- Chengcheng Zhang (ORCID: https://orcid.org/0000-0002-2992-6291)
- Lijun Liu (ORCID: https://orcid.org/0000-0003-0684-045X)
- Ting Wang (ORCID: https://orcid.org/0000-0002-2425-4684)
- Hui Li
- Ling Zeng
Publication Details
- Journal
- Developmental Neuroscience
- Published
- 2025-10-24
- DOI
- https://doi.org/10.1159/000549155
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00