Lina M. Moreno Uribe

This study identifies de novo structural variants in individuals with orofacial clefts and finds they contribute to genetic risk, with some variants disrupting known risk genes and suggesting new candidate genes.

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

The paper identifies methylation quantitative loci (meQTLs) associated with nonsyndromic orofacial clefts, linking genetic variants to epigenetic changes that may explain missing heritability.

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 differentially methylated CpG sites in twins discordant for NSCL/P, linking them to retinoic acid signaling and chromatin regulation.

This study identifies genetic and epigenetic factors contributing to cleft laterality using monozygotic twins and replication cohorts, finding methylation differences in ARID5B, ZFP57, and HOOK2 associated with cleft side and severity.

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.

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

The paper investigates DNA methylation differences in IRF6 and TP63 regulatory regions in Van der Woude Syndrome patients and finds hypermethylation in IRF6 promoters correlates with more severe phenotypes.

The paper identifies rare mutations in SIX1, PDGFRA, and KDR/VEGFR2 associated with OAVS phenotypes through whole genome sequencing and statistical analysis of a family.

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 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.

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.