Article
The role of rare compound heterozygous events in autism spectrum disorder.
Translational psychiatry - 22 Jun 2020
Lin Bochao Danae, Colas Fabrice, Nijman Isaac J, Medic Jelena, Brands William, Parr Jeremy R, van Eijk Kristel R, Klauck Sabine M, Chiocchetti Andreas G, Freitag Christine M, Maestrini Elena, Bacchelli Elena, Coon Hilary, Vicente Astrid, Oliveira Guiomar, Pagnamenta Alistair T, Gallagher Louise, Ennis Sean, Anney Richard, Bourgeron Thomas, Luykx Jurjen J, Vorstman Jacob
Abstract excerpt
The identification of genetic variants underlying autism spectrum disorders (ASDs) may contribute to a better understanding of their underlying biology. To examine the possible role of a specific type of compound heterozygosity in ASD, namely, the occurrence of a deletion together with a functional nucleotide variant on the remaining allele, we sequenced 550 genes in 149 individuals with ASD and their...
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