Recent advances in genomics have revealed a wide spectrum of genetic variants
associated with neurodevelopmental disorders at an unprecedented scale. An increasing …

Copy number variants (CNVs) are major contributors to genetic diversity and disease. While
standardized methods, such as the genome analysis toolkit (GATK), exist for detecting short …

Rare copy-number variants (rCNVs) include deletions and duplications that occur
infrequently in the global human population and can confer substantial risk for disease. In …

Our understanding of the genetics of the human cerebral cortex is limited both in terms of the
diversity and the anatomical granularity of brain structural phenotypes. Here we conducted a …

Autism spectrum disorder (ASD) is diagnosed three to four times more frequently in males
than in females. Genetic studies of rare variants support a female protective effect (FPE) …

Exome and genome sequencing have become the tools of choice for rare disease
diagnosis, leading to large amounts of data available for analyses. To identify causal …

We describe an autosomal dominant disorder associated with loss-of-function variants in the
Cell cycle associated protein 1 (CAPRIN1; MIM* 601178). CAPRIN1 encodes a ubiquitous …

Pitt–Hopkins syndrome is an autism spectrum disorder caused by autosomal dominant
mutations in the human transcription factor 4 gene (TCF4). One pathobiological process …

Summary Chromosome 16p11. 2 reciprocal genomic disorder, resulting from recurrent copy-
number variants (CNVs), involves intellectual disability, autism spectrum disorder (ASD) …

Point mutations and structural variants that directly disrupt the coding sequence of MEF2C
have been associated with a spectrum of neurodevelopmental disorders (NDDs). However …