Cargando…
A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex
The genetic etiology of autism spectrum disorder (ASD) is multifactorial, but how combinations of genetic factors determine risk is unclear. In a large family sample, we show that genetic loads of rare and polygenic risk are inversely correlated in cases and greater in females than in males, consist...
Autores principales: | Antaki, Danny, Guevara, James, Maihofer, Adam X., Klein, Marieke, Gujral, Madhusudan, Grove, Jakob, Carey, Caitlin E., Hong, Oanh, Arranz, Maria J., Hervas, Amaia, Corsello, Christina, Vaux, Keith K., Muotri, Alysson R., Iakoucheva, Lilia M., Courchesne, Eric, Pierce, Karen, Gleeson, Joseph G., Robinson, Elise, Nievergelt, Caroline M., Sebat, Jonathan |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9474668/ https://www.ncbi.nlm.nih.gov/pubmed/35654974 http://dx.doi.org/10.1038/s41588-022-01064-5 |
Ejemplares similares
-
Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism
por: Urresti, Jorge, et al.
Publicado: (2021) -
Correction: Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism
por: Urresti, Jorge, et al.
Publicado: (2021) -
Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome
por: Pagel, Kymberleigh A., et al.
Publicado: (2019) -
Autism risk in offspring can be assessed through quantification of male sperm mosaicism
por: Breuss, Martin W., et al.
Publicado: (2019) -
Sex differences in the polygenic architecture of hearing problems in adults
por: De Angelis, Flavio, et al.
Publicado: (2023)