Robert J. Lipinski

This study shows that YY1 REPO domain regulates TET2 expression, which is essential for T cell development, and that disrupting this regulation causes developmental defects.

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.

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.

This study identifies Frem1 as a target of Sonic Hedgehog signaling in cranial neural crest cells, showing its role in midfacial morphogenesis and face shape variation.

The paper identifies a genetic modifier, FAT4, associated with left-sided cleft lip and palate, suggesting genetic factors differ from epidemiological patterns.

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.