Genetic diagnostic yields of 354 Chinese ASD children with rare mutations by a pipeline of genomic tests

Purpose: To establish an effective genomic diagnosis pipeline for children with autism spectrum disorder (ASD) for its genetic etiology and intervention.Methods: A cohort of 354 autism spectrum disorder patients were obtained from Beijing Children’s Hospital, Capital Medical University. Peripheral b...

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Hlavní autoři:	Yue Zhang, Ying Li, Ruolan Guo, Wenjian Xu, Xuanshi Liu, Chunlin Zhao, Qi Guo, Wenshan Xu, Xin Ni, Chanjuan Hao, Yonghua Cui, Wei Li
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Frontiers Media S.A. 2023-03-01
Edice:	Frontiers in Genetics
Témata:	autism spectrum disorder whole-genome sequencing RNA sequencing copy number variation single nucleotide variation
On-line přístup:	https://www.frontiersin.org/articles/10.3389/fgene.2023.1108440/full
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