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Frontiers in Genetics|October 17, 2019
Missense Pathogenic variants in KIF4A Affect Dental Morphogenesis Resulting in X-linked Taurodontism, Microdontia and Dens-InvaginatusLord J J Gowans, Sophia Cameron-Christie, Rebecca L Slayton, et al.The New England Journal of Medicine|August 20, 2004
Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palateTheresa M Zucchero, Margaret E Cooper, Brion S Maher, et al.American Journal of Human Genetics|June 9, 2004
Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35Mary L Marazita, Jeffrey C Murray, Andrew C Lidral, et al.Lancet (London, England)|November 22, 2007
The way forwardCarla AbouZahr, John Cleland, Francesca Coullare, et al.Molecular Genetics & Genomic Medicine|August 25, 2018
Identification of paternal uniparental disomy on chromosome 22 and a de novo deletion on chromosome 18 in individuals with orofacial cleftsGaniyu O Oseni, Deepti Jain, Peter A Mossey, et al.American Journal of Human Genetics|September 3, 2025
Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathyKelsey Robinson, Sunil K Singh, Rachel B Walkup, et al.Human Mutation|June 20, 2019
Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humansTimothy C Cox, Andrew C Lidral, Jason C McCoy, et al.Medrxiv : the Preprint Server for Health Sciences|June 4, 2026
Comprehensive analysis of de novo variants across 2,497 orofacial cleft trios reveals novel genetic drivers of diseaseNehir E Kurtas, Alba Sanchis-Juan, Eren Shin, et al.American Journal of Medical Genetics. Part A|February 8, 2023
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall statureAlanna Strong, Soumya Rao, Sandra von Hardenberg, et al.Nature Genetics|August 7, 2012
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk lociKerstin U Ludwig, Elisabeth Mangold, Stefan Herms, et al.Pageof 43