Article
Phenotypic effects of genetic variants associated with autism.
Nature medicine - 1 Jul 2023
Rolland Thomas, Cliquet Freddy, Anney Richard J L, Moreau Clara, Traut Nicolas, Mathieu Alexandre, Huguet Guillaume, Duan Jinjie, Warrier Varun, Portalier Swan, Dry Louise, Leblond Claire S, Douard Elise, Amsellem Frédérique, Malesys Simon, Maruani Anna, Toro Roberto, Børglum Anders D, Grove Jakob, Baron-Cohen Simon, Packer Alan, Chung Wendy K, Jacquemont Sébastien, Delorme Richard, Bourgeron Thomas
Abstract excerpt
While over 100 genes have been associated with autism, little is known about the prevalence of variants affecting them in individuals without a diagnosis of autism. Nor do we fully appreciate the phenotypic diversity beyond the formal autism diagnosis. Based on data from more than 13,000 individuals with autism and 210,000 undiagnosed individuals, we estimated the odds ratios for autism associated to rare...
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