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http://dx.doi.org/10.1002/ajmg.a.62935 | DOI Listing |
Genet Res (Camb)
July 2025
Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu 222000, China.
Autism spectrum disorders (ASDs) are heterogeneous neurodevelopmental conditions with complex genetic etiologies. Recent advances in whole exome sequencing (WES) have enabled comprehensive detection of clinically relevant variants, particularly single-nucleotide variations (SNVs) and InDels, in ASD genetic diagnostics. Here, we performed WES on 50 Chinese children with ASD who tested negative for copy number variants (CNVs).
View Article and Find Full Text PDFAm J Med Genet A
November 2022
Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.