We used a family-based cluster detection approach designed to localize significant rare
disease–risk variants clusters within a region of interest to systematically search for …

Common single-nucleotide polymorphisms (SNPs) account for a large proportion of the
heritability of obsessive-compulsive disorder (OCD). Co-ocurrence of OCD and …

Copy number variations (CNVs) of the human 16p11. 2 locus are associated with several
developmental/neurocognitive syndromes. Particularly, deletion and duplication of this …

Abstract The 16p11. 2 duplication (BP4–BP5) is associated with Autism Spectrum Disorder
(ASD), although significant heterogeneity exists. Quantitative ASD, behavioral and …

Abstract The 16p11. 2 BP4-BP5 deletion and duplication syndromes are associated with a
complex spectrum of neurodevelopmental phenotypes that includes developmental delay …

Genes implicated in translation control have been associated with autism spectrum
disorders (ASDs). However, some important genetic causes of autism, including the 16p11 …

Dried blood spot samples (DBSS) have been collected and stored for decades as part of
newborn screening programmes worldwide. Representing almost an entire population …

Background Genome-wide association studies (GWASs) have reported hundreds of
genomic loci associated with schizophrenia, yet identifying the functional risk variations is a …

Autism Spectrum Disorder (ASD) is a developmental disorder in which children display
repetitive behavior, restricted range of interests, and atypical social interaction and …

Purpose To identify developmental neuroradiologic findings in a large cohort of carriers who
have deletion and duplication at 16p11. 2 (one of the most common genetic causes of …