Leo Brueggeman

Genomic dissection of sleep archetypes in a large autism cohort

The paper identifies eight sleep archetypes in autism using a large cohort and finds genetic associations with educational attainment, BMI, and ADHD, while suggesting distinct genetic drivers from the general population.

Integrating de novo and inherited variants in over 42,607 autism cases identifies mutations in new moderate risk genes

The paper identifies 60 new moderate risk genes for autism by integrating de novo and inherited variants across 42,607 cases and 236,000 controls.

Forecasting autism gene discovery with machine learning and genome-scale data

This paper introduces forecASD, a machine learning method that identifies potential autism risk genes using genome-scale data, showing improved prediction of gene-disrupting mutations and differential expression.

Exome sequencing of 457 autism families recruited online provides evidence for novel ASD genes

The paper reports exome sequencing of 457 ASD families, identifying 10.4% with known ASD genes and 3.4% with possibly associated variants, and provides statistical support for 34 ASD risk genes using the TADA framework.

Impact of genetic variations on the human brain: when and where?

This study introduces BRAVA, a resource to estimate the spatio-temporal context of genetic mutations in the human brain, revealing both neurodevelopmental and late-onset components for schizophrenia-associated loci.

Systematic integration of biomedical knowledge prioritizes drugs for repurposing

This paper uses a biomedical knowledge network to predict drug-disease treatment pairs and prioritize drug repurposing candidates.