Kimberly K. Diaz Perez

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 demonstrates that allele-specific siRNA can effectively silence a dominant SETX mutation in ALS4, restoring R-loop levels in patient cells.

The paper uses whole-exome sequencing to identify rare variants in multiplex families with orofacial clefts, finding variants in seven families but no clear evidence that subclinical phenotypes clarify inheritance patterns.

The paper estimates the diagnostic yield of sequencing 418 genes in OFC cases and controls, finding a higher prevalence of likely pathogenic variants in cases.

The paper identifies coding de novo mutations in whole-genome sequencing data from OFC cases and finds enrichment in genes expressed in craniofacial tissues and linked to OFC syndromes.