4 documents found, page 1 of 1
Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4–BP5) Region Associate...
de Stefano, Maria Chiara; Gallagher, Louise; Rakic, Severin; Jorge, Paula; Cuturilo, Goran; Markovska-Simoska, Silvana; Borg, IsabellaCopy number variants (CNVs) play an important role in the genetic underpinnings of neuropsychiatric/neurodevelopmental disorders. The chromosomal region 16p11.2 (BP4-BP5) harbours both deletions and duplications that are associated in carriers with neurodevelopmental and neuropsychiatric conditions as well as several rare disorders including congenital malformation syndromes. The aim of this article is to provi...
The role of rare compound heterozygous events in autism spectrum disorder
Lin, Bochao Danae; Colas, Fabrice; Nijman, Isaac J.; Medic, Jelena; Brands, William; Parr, Jeremy R.; van Eijk, Kristel R.; Klauck, Sabine M.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 deletion-...
Polygenic transmission disequilibrium confirms that common and rare variation a...
Weiner, Daniel J.; Wigdor, Emilie M.; Ripke, Stephan; Walters, Raymond K.; Kosmicki, Jack A.; Grove, Jakob; Samocha, Kaitlin E.Autism spectrum disorder (ASD) risk is influenced by common polygenic and de novo variation. We aimed to clarify the influence of polygenic risk for ASD and to identify subgroups of ASD cases, including those with strongly acting de novo variants, in which polygenic risk is relevant. Using a novel approach called the polygenic transmission disequilibrium test and data from 6,454 families with a child with ASD, ...
The Autism Simplex Collection: an international, expertly phenotyped autism sam...
Buxbaum, Joseph D.; Bolshakova, Nadia; Brownfeld, Jessica M.; Anney, Richard J. l.; Bender, Patrick; Bernier, Raphael; Cook, Edwin H.; Coon, HilaryBackground: There is an urgent need for expanding and enhancing autism spectrum disorder (ASD) samples, in order to better understand causes of ASD. Methods: In a unique public-private partnership, 13 sites with extensive experience in both the assessment and diagnosis of ASD embarked on an ambitious, 2-year programto collect samples for genetic and phenotypic research and begin analyses on these samples. The p...