Targeted sequencing identifies risk variants in 202 candidate genes for neurodevelopmental disorders

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成果类型：

期刊论文

作者：

Pang, Nan;Li, Kuokuo;Tan, Senwei;Chen, Meilin;He, Fang;...

通讯作者：

Xia, K;Peng, Jing;Yin, F

作者机构：

[He, Fang; Yang, Li; Deng, Xiaolu; Peng, Jing; Chen, Chen; Zhang, Ciliu; Wang, Xiaole; Yang, Lifen; Duan, Haolin; Mao, Leilei; Pang, Nan; Wang, Guoli; Zhang, Wen; Yin, Fei] Cent South Univ, Xiangya Hosp, Dept Pediat, Changsha 410008, Peoples R China.

[Xia, K; Li, Kuokuo; Chen, Meilin; Tan, Senwei; Guo, Hui; Xia, Kun] Cent South Univ, Ctr Med Genet, Sch Life Sci, Changsha 410078, Hunan, Peoples R China.

[Xia, K; Li, Kuokuo; Chen, Meilin; Tan, Senwei; Guo, Hui; Xia, Kun] Cent South Univ, Sch Life Sci, Hunan Key Lab Med Genet, Changsha 410078, Hunan, Peoples R China.

[Li, Kuokuo] Anhui Med Univ, Affiliated Hosp 1, Dept Oncol, Hefei 230022, Peoples R China.

通讯机构：

[Peng, J; Xia, K ; Yin, F ] C

Cent South Univ, Ctr Med Genet, Sch Life Sci, Changsha 410078, Hunan, Peoples R China.

Cent South Univ, Sch Life Sci, Hunan Key Lab Med Genet, Changsha 410078, Hunan, Peoples R China.

Univ South China, Hengyang Med Sch, Hengyang 421001, Peoples R China.

Cent South Univ, Xiangya Hosp, Clin Res Ctr Children Neurodev disabil Hunan Prov, Dept Pediat, Changsha, Peoples R China.

语种：

英文

关键词：

Autism spectrum disorder;CDKL5;De novo variants;Epilepsy;Intellectual disability;Molecular inversion probes;Neurodevelopmental disorders;SCN1A

期刊：

Gene

ISSN：

0378-1119

年：

2024

卷：

897

页码：

148071

DOI：

10.1016/j.gene.2023.148071

基金类别：

This work was supported by grants from National Natural Science Foundation of China (81701541, 81771408, 81771409, 82001449, 82071462, 82101944), National Key Research and Development Program of China (2016YFC1306202), Hunan Provincial Natural Science Foundation of China (020JJ5946, 2021JJ40969).

机构署名：

本校为通讯机构

摘要：

With the continuous deepening of genetic research on neurodevelopmental disorders (NDDs), more patients have been identified the causal or candidate genes. However, it is still urgent needed to increase the sample size to confirm the associations between variants and clinical manifestations. We previously performed molecular inversion probe sequencing of autism spectrum disorder (ASD) candidate genes in 1543 ASD patients. In this study, we used the same method to detect de novo variants (DNVs) in 665 NDD patients with intellectual disability (ID) and/or epilepsy (EP) for genetic analysis and d...

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Targeted sequencing identifies risk variants in 202 candidate genes for neurodevelopmental disorders

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