Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

Publication: Research - peer-reviewJournal article – Annual report year: 2012

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Sequencing of balanced chromosomal abnormalities, combined with convergent genomic studies of gene expression, copy-number variation, and genome-wide association, identifies 22 new loci that contribute to autism and related neurodevelopmental disorders. These data support a polygenic risk model for autism and provide new insight into how different types of mutations of the same genes can lead to variable disease phenotypes that manifest at different stages of life.
Original languageEnglish
JournalCell
Publication date2012
Volume149
Journal number3
Pages525-537
ISSN0092-8674
DOIs
StatePublished
CitationsWeb of Science® Times Cited: 64
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