Maria Rita Passos‐Bueno

The paper identifies 253 autism-associated genes using rare variation from 62,429 individuals and finds pleiotropy across physiological systems and developmental disorders.

The paper investigates how maternal pro-inflammatory responses affect Cdh1/E-cadherin epigenetic regulation and craniofacial development in embryos.

The paper reports 37 new cases of RBM10 variants, identifies two phenotypic groups, and establishes a genotype-phenotype correlation based on functional studies.

This paper identifies 35 genome-wide significant ASD risk genes in admixed Latin American populations, showing consistency with European cohorts and supporting the universality of ASD biology.

The paper evaluates HLA imputation accuracy in admixed populations using dimension reduction, finding that custom reference panels outperform standard ones for specific genetic models.

This study presents a high-coverage whole-genome sequencing dataset of 1,171 admixed elderly Brazilians, identifying novel variants and demonstrating the utility of WGS for genomic and clinical research in underrepresented populations.

The paper identifies genetic variants associated with resistance to SARS-CoV-2 infection by analyzing discordant Brazilian couples.

The paper identifies a West African-associated regulatory variant with a strong female-specific effect on BMI and fat mass in Brazilian admixed populations.

The paper analyzes structural variation in the glycophorin gene cluster across 6466 genomes, identifies 15 known and 9 new variants, and links structural variants to recombination hotspots.

The paper identifies mir152 hypomethylation as a potential mechanism for non-syndromic cleft lip/palate, linked to embryonic hypoxia in zebrafish models.

The paper identifies three loci where genetic liability to non-syndromic cleft lip/palate may be mediated by DNA methylation variation in blood and tissue.

This study identifies 99 genes associated with autism spectrum disorder through large-scale exome sequencing, showing differences in mutation frequencies between ASD and severe neurodevelopmental delay groups.