Judit Bene

The paper identifies a KIAA0586 c.1815G>A founder allele associated with short-rib polydactyly syndrome type IV in Romani families and reports its higher frequency in Hungarian Romani individuals.

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.

A genome-wide association study of 69,369 schizophrenia cases and 236,642 controls identifies 270 risk loci, prioritizes 130 genes, and links common and rare risk variants to neuronal synaptic biology.

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

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 identifies 114 genome-wide significant loci for schizophrenia and bipolar disorder, with specific subphenotype associations and four genes distinguishing the disorders.

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