John B. Vincent

This study identifies RNA interaction at the NID/RBD of MeCP2 and shows it inhibits MeCP2-NCoR binding, suggesting a role in Rett syndrome pathophysiology.

This study identifies potential antiviral drug candidates against MPXV DNA polymerase and A42R protein using in-silico methods, highlighting compounds with high docking scores and stable ligand-protein complexes.

The paper identifies a novel interaction between PTCHD1 and SNAPIN and shows that some missense variants impair subcellular trafficking without affecting binding.

This paper investigates how nonsynonymous mutations in PTCHD1 affect protein stability and N-glycosylation, showing disrupted glycosylation processing but normal localization and interaction with SAP102.

This study examines the effects of MECP2 mutations on neuronal and network phenotypes in human stem cell-derived excitatory neurons, showing a spectrum of morphological, electrophysiological, and circuitry changes based on mutation severity.

This paper conducts a GWAS on suicide attempt across psychiatric disorders, identifying genetic loci and showing polygenic risk for major depression predicts suicide attempt in multiple disorders.

The paper analyzes rare variants to uncover mutation rate heterogeneity in the human genome, identifying genomic features that influence mutation rates.

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

This paper investigates N-terminal modifications of MeCP2 isoforms and their impact on protein degradation, showing that the p.Ala2Val mutation reduces protein stability and bioavailability in Rett syndrome.