Summary Orofacial clefts (OFCs) are the most common craniofacial birth defect and comprise a diverse group of traits with complex and heterogeneous etiologies. Genetic studies of OFCs typically approach this diversity by stratifying cases into broad diagnostic classes, including cleft lip (CL), cleft palate (CP), and c...
Noah Herrick, Z. Erdogan-Yildirim, M. Lee et al.· HGG advances· 0 citations
Witteveen-Kolk syndrome (WKS) is a rare autosomal dominant neurodevelopmental disorder caused by pathogenic SIN3A variants, with diagnosis complicated by variable physical findings. We describe two unrelated patients with de novo SIN3A variants identified through trio whole exome sequencing, expanding the phenotype of...
Bennett Cleff, Ellen Wang, J. Bolen et al.· The Cleft Palate-Craniofacia...· 0 citations
Gene-based association testing, meta-analysis, functional prioritization, and effect-size estimation revealed several novel NSCLP candidate genes and confirmed associations with previously reported genes, providing strong support for a polygenic inheritance model in NSCLP.
Yao Yu, G. Kowalczyk, Chad D. Huff et al.· European Journal of Human Ge...· 0 citations
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