William M. Brandler

Schizophrenia-associated somatic copy number variants from 12,834 cases reveal contribution to risk and recurrent, isoform-specific NRXN1 disruptions

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

Quantification of autism recurrence risk by direct assessment of paternal sperm mosaicism

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

Genome Wide Association Scan identifies new variants associated with a cognitive predictor of dyslexia.

The paper conducts a GWAS to identify genetic variants associated with a cognitive predictor of dyslexia, finding significant associations with variants near MIR924HG and NKAIN3.

Paternally inherited noncoding structural variants contribute to autism

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

SV2: Accurate Structural Variation Genotyping and De Novo Mutation Detection

SV2 is a machine-learning algorithm that improves structural variant genotyping and detects de novo mutations from paired-end sequencing data.