Martilias S. Farrell

The paper identifies and functionally characterizes TAD-boundary-disrupting ultra-rare structural variants in schizophrenia using CRISPR/Cas9 in iPSCs, showing cell-type-specific effects on 3D-genome organization and gene expression.

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

The paper uses brain cell-type-specific protein interactomes to interpret genetic data in schizophrenia and identifies enriched networks and genes associated with the disease.

The paper finds that rare copy number variants (CNVs) are more common in treatment-resistant psychosis patients compared to a general schizophrenia cohort, with duplications at 15q11.2-q13.1 and 16p11.2 linked to treatment resistance.

This study identifies sex-dependent genetic risk loci shared and specific to mood and psychotic disorders using genome-wide interaction analysis.

This study identifies tSNARE1 as a schizophrenia risk gene that regulates endolysosomal trafficking in cortical neurons through its isoforms' effects on endosomal cargo movement.

The paper compares ten polygenic score methods for psychiatric disorders across multiple cohorts, finding that some methods significantly improve prediction statistics over the baseline PC+T method.

The paper finds a genetic association between schizophrenia risk and age at first birth in women, with different genetic correlations in younger and older age groups.

This study compares LDSC and GREML methods for estimating genetic correlation, showing GREML provides higher accuracy, especially in the presence of genetic heterogeneity.

This study shows that deleting RSK2 in mice increases psychostimulant responses and 5-HT2A receptor signaling, linking RSK2 dysfunction to schizophrenia-like behaviors in Coffin-Lowry Syndrome.