Kelsey R. Robinson

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.

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 identifies GRHL1 as an orofacial cleft risk gene by analyzing conserved transcriptional regulatory networks between zebrafish and human periderm using single-cell multiome sequencing and functional validation.

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 a novel epithelial population, Zippering Lambda, whose cell cycle arrest is critical for facial prominence fusion and is disrupted in orofacial clefting.

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 paper presents a single-nucleus RNA sequencing atlas of human craniofacial development, revealing cell type contributions to facial variation and disease risk.

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 identifies novel disease candidate genes in craniofacial development using transcriptomics data and coexpression networks.