Ricardo Harripaul

The paper identifies WAPL as a novel cohesinopathy gene and driver of a genomic disorder, showing its role in developmental delay and other anomalies through clinical, in vitro, and in vivo analyses.

The paper investigates the functional role of recursive splicing in CADM2, showing that its deletion leads to altered gene expression and behavioral changes in neurodevelopmental disorders.

This study identifies a four-fold enrichment of treatable genetic disorders in psychiatric patients compared to the general population through targeted sequencing of 129 genes.

This study uses transcriptome analysis in a humanized mouse model of FD to identify tissue-specific gene expression disruptions in the peripheral nervous system.

The paper identifies inherited rare variants in schizophrenia families, showing enrichment in neurodevelopmental pathways and convergence with genes linked to de novo mutations in schizophrenia, autism, and intellectual disability.

This study finds enrichment of pathogenic variants linked to treatable genetic disorders in psychiatric populations, particularly in schizophrenia.