Christina M. Hultman

This study conducts a large-scale GWAS of OCD, identifying 15 new genome-wide significant loci and linking OCD to multiple cortical regions and cell types.

The paper develops a method to infer compound heterozygosity from exome sequencing data, achieving high accuracy in phasing rare variants for recessive disease diagnosis.

This study investigates how the 22q11.2 deletion affects gene expression in neural progenitor cells and neurons, linking it to schizophrenia risk through altered presynaptic gene products.

Exomes of 24,248 schizophrenia cases and 97,322 controls implicate ultra-rare damaging variants in 10 genes, including GRIN2A and GRIA3, with odds ratios of 3 to 50.

The paper analyzes multi-nucleotide variants (MNVs) in 125,748 exomes and 15,708 genomes, identifying their distribution, mutational origins, and functional implications.

This study identifies DNA methylation changes in blood samples from psychosis patients, including treatment-resistant schizophrenia, and links them to biological age, smoking, and cellular composition.

The paper investigates the role of single-gene copy number variants in schizophrenia risk using exome-sequencing data from a Swedish cohort, identifying significant deletions in voltage-gated calcium channels.

This study identifies five genome-wide significant loci and seven shared with other traits in a large ASD GWAS, highlighting polygenic heterogeneity and the value of large-scale GWAS in ASD.

This study identifies 99 genes associated with autism spectrum disorder through large-scale exome sequencing, showing differences in mutation frequencies between ASD and severe neurodevelopmental delay groups.

The study finds that rare copy number variants (CNVs) contribute to bipolar disorder risk primarily in schizoaffective disorder bipolar type cases, with differences in CNV burden and schizophrenia polygenic risk scores between subtypes.

The paper investigates the impact of rare protein truncating variants on 13 quantitative traits and 10 diseases using whole-exome sequencing data from 100,296 individuals, finding increased risk for several disorders and associations with other phenotypes.

The paper uses Bayesian modeling to analyze rare exonic variants in schizophrenia and neurodevelopmental disorders, identifying 1,551 risk genes for schizophrenia and 98 new risk genes for developmental disorders.

The paper identifies OCD-associated genes by combining evolutionary and functional data with targeted sequencing in humans and animal models.

The paper identifies rare loss-of-function variants in KMT2F associated with schizophrenia and developmental disorders, showing their role in neurodevelopmental conditions.

The paper evaluates the performance of likelihood ratio and score tests under weight misspecification in rare variant association studies and finds LRT more robust and powerful.