Carmen J. Buxó

The paper performs trio-based GWAS on cleft lip subtypes to identify novel genetic loci associated with specific phenotypes.

This study identifies novel genetic drivers of orofacial clefts by analyzing de novo variants in 2,497 trios and integrating findings across subtypes and syndromic status.

The paper analyzes the laterality, symmetry, and completeness of nonsyndromic orofacial clefts in a multiethnic cohort, finding sex, race, and ethnicity influence these traits but not completeness.

The paper identifies rare variants in PRKCI as a novel cause of Van der Woude syndrome and other peridermopathy features through clinical and functional analyses.

The paper identifies protein-altering de novo variants in CP probands, finding higher enrichment in syndromic cases and distinct biological enrichments in single-cell RNA sequencing datasets.

This study identifies three new genetic loci associated with orofacial cleft risk and confirms known risk genes, providing insights into the molecular mechanisms of facial development.

The paper identifies sex-specific genetic risks for cleft palate through genome-wide gene-by-sex interaction analysis in a trio-based cohort.

This study performs trio-based GWAS to identify genetic risk factors for cleft palate subtypes, finding a genome-wide significant locus and subtype-specific associations.

The paper develops a framework to analyze subtype-specific and shared genetic effects in orofacial clefting and applies it to identify loci associated with different subtypes.

The paper identifies sex-specific risk alleles for nonsyndromic orofacial clefts through genome-wide interaction studies, finding a significant gene-by-sex effect at the 10q21 locus.