Erika Pedrosa

The paper identifies ultrarare genetic variants in intestinal homeostasis genes in youth with neuropsychiatric deteriorations and gastrointestinal symptoms, suggesting a potential link to disease pathogenesis.

The paper identifies ultrarare variants in DNA damage repair and mitochondrial genes in pediatric neuropsychiatric syndromes and neurodevelopmental disorders, linking them to innate immune pathways and gut microbiome homeostasis.

The paper reports mutations in DNA damage repair genes in patients with acute psychiatric symptoms or regression, suggesting a link between DNA repair defects and inflammatory brain conditions.

This study uses single-cell RNA-seq in cerebral organoids to analyze CHD8 heterozygous mutations, identifying altered gene expression, cell composition, and cell-cell communication linked to autism risk.

This study uses proteomics and phosphoproteomics to analyze iPSC-derived neurons and microglia from JdVS patients, identifying molecular changes linked to neurodevelopmental and psychiatric symptoms.