Joseph D. Buxbaum

Jul 24, 2024 | nature.com | Joseph D. Buxbaum

AbstractActivity-dependent neuroprotective protein (ADNP) syndrome is a rare neurodevelopmental disorder resulting in intellectual disability, developmental delay and autism spectrum disorder (ASD) and is due to mutations in the ADNP gene. Ketamine treatment has emerged as a promising therapeutic option for ADNP syndrome, showing safety and apparent behavioral improvements in a first open label study. However, the molecular perturbations induced by ketamine remain poorly understood.

May 30, 2024 | cell.com | Yi Yang |Qi Wang |Chen Wang |Joseph D. Buxbaum

Both trio and population designs are popular study designs for identifying risk genetic variants in genome-wide association studies (GWASs). The trio design, as a family-based design, is robust to confounding due to population structure, whereas the population design is often more powerful due to larger sample sizes. Here, we propose KnockoffHybrid, a knockoff-based statistical method for hybrid analysis of both the trio and population designs.

Mar 13, 2023 | nature.com | Dongjing Liu |Brian K. Fennessy |Esther Cheng |Joseph D. Buxbaum |Enrico Domenici |Dheeraj Malhotra | +21 more

AbstractSchizophrenia (SCZ) is a chronic mental illness and among the most debilitating conditions encountered in medical practice. A recent landmark SCZ study of the protein-coding regions of the genome identified a causal role for ten genes and a concentration of rare variant signals in evolutionarily constrained genes1.