Madhusudan Gujral

This study identifies somatic copy number variants (sCNVs) in schizophrenia cases, revealing their contribution to risk and specific NRXN1 disruptions.

This study shows that autism spectrum disorder risk is influenced by rare variants, polygenic risk, and sex, with sex-specific effects on genetic liability and behavioral traits.

The paper quantifies autism recurrence risk by detecting paternal sperm mosaicism through single molecule genotyping and whole genome sequencing.

This study identifies a large number of structural variants in human genomes using multiple sequencing technologies and presents them as a gold standard for future studies.

This study identifies rare paternally-inherited structural variants contributing to autism by disrupting noncoding regions and coding genes, with differential parental contributions.

This study identifies eight genome-wide significant CNV loci associated with schizophrenia using a large cohort of 41,321 subjects.

The paper identifies 1.2 million structural variants in 235 individuals, showing high de novo mutation diversity and complex mutation clusters, but finds no increased genome rearrangement rate for ASD.