Joseph D. Buxbaum

This study identifies three functional programs impacted by autism genes, contextualized across neuronal subclasses, developmental timing, and cortical regions.

The paper estimates the contribution of de novo coding mutations to autism using data from 38,680 trios, finding they explain 3.4% of autism variance.

The paper identifies 253 autism-associated genes using rare variation from 62,429 individuals and finds pleiotropy across physiological systems and developmental disorders.

This study examines Shank3-deficient rats to identify behavioral impairments, finding that executive dysfunction is more pronounced than sensorimotor or social deficits.

The paper develops a model to analyze X-linked rare variation in ASD, identifying 9 genes associated with ASD and explaining how X-linked variation could contribute to sex-differential prevalence.

This study investigates genetic relationships between OCD, BD, SCZ, and MDD using GWAS data, finding causal effects of OCD on BD, SCZ, and MDD.

This study identifies moderate effect size genes in ASD through a gene pairing approach, showing their combined contribution to ASD liability.

The paper introduces a framework to infer de novo exonic variants without parental genotypes, enhancing autism association studies by improving gene-based tests and controlling false discovery rates.

The paper uses EEG and machine learning to identify electrophysiological subtypes in autism, finding a PMS-like subgroup in idiopathic ASD with reduced gamma-band phase-locking.

The paper introduces co-expression-based models to improve eQTL predictions and identifies novel schizophrenia-associated genes using brain RNA-seq data.

BELONG collects DNA and clinical data from 1,250 African ancestry OCD cases to improve genetic research representation and identify OCD risk genes.

This study identifies rare coding variants contributing to OCD risk and shows genetic overlap with CTD and neurodevelopmental disorders, while showing minimal overlap with bipolar disorder and schizophrenia.

This study identifies ADARB1 overexpression in T21 fetal brain due to trisomy 21, leading to increased A-to-I RNA editing and altered GRIA gene recoding.

The paper identifies novel CNV loci and dose-dependent gene effects across six psychiatric disorders using genome-wide analysis.

The paper identifies shared and divergent genetic mechanisms across psychiatric disorders using gene-set burden analysis of copy number variants.

This study identifies 30 genome-wide significant loci for obsessive-compulsive disorder (OCD) using a large GWAS, linking risk to specific brain cell types and shared genetic risk with other psychiatric and non-psychiatric traits.

This paper identifies 35 genome-wide significant ASD risk genes in admixed Latin American populations, showing consistency with European cohorts and supporting the universality of ASD biology.

This study develops a method to generate diverse GABAergic neurons from PSCs using TFs and signaling inhibition, showing distinct subtype compositions and disease relevance.

The paper optimizes Perturb-seq and uses structural topic modeling to identify shared impacts of ASD genes on neural development, revealing effects on cell fate and differentiation.

This study examines the transient blood transcriptomic changes in children with ADNP syndrome following ketamine treatment, revealing acute immune-related gene expression alterations that revert to baseline within a week.

The paper identifies genetically distinct patient subgroups across diseases by analyzing polygenic risk and pathway convergence.

The paper introduces a cost-efficient sequencing method called Blended Genome Exome (BGE) that combines low-coverage whole genome and high-coverage exome data, achieving >99% concordance with 30x WGS for variant imputation and rare coding variant calling.

The paper shows acetate supplementation improves social deficits and changes gene expression in the prefrontal cortex of Shank3-deficient mice.

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

This study identifies novel Alzheimer's disease risk loci by analyzing multi-ancestry GWAS data from diverse populations, highlighting the importance of including underrepresented groups in genetic research.

The paper compares clinical phenotypes of CHAMP1 mutations and deletions, finding mutations cause more severe symptoms through dominant negative or gain of function mechanisms, while deletions act via haploinsufficiency.

The paper examines RNA editing changes during human cortical development, identifying expansion of editing sites and their genetic regulation linked to neurological disorders.

The paper develops a proximity proteomics method in mice to identify protein interactions relevant to autism, revealing new genetic risk factors and functional interactions.

The paper identifies population-level variation in enhancer expression in the human brain and links enhancer eQTL to schizophrenia heritability.

This study identifies molecular differences between PMS patients with small and large deletions, showing reduced cytotoxic cell signatures and sphingolipid metabolism in large deletions.