Author

J. T. Hecht

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Open access Oct 2026

Witteveen-Kolk Syndrome: Two Patients With Craniofacial Features and Novel SIN3A Variants.

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

Open access Jul 2026

Genome-wide assessment of rare protein-coding variants identifies associations with non-syndromic cleft lip/palate.

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