• Adzhubei, I. A., S. Schmidt, L. Peshkin, V. E. Ramensky, A. Gerasimova, P. Bork, et al. 2010. A method and server for predicting damaging missense mutations. Nat. Methods 7:248249.
  • Birkeland, A. C., Y. Larrabee, D. T. Kent, C. Flores, G. H. Su, J. H. Lee, et al. 2011. Novel IRF6 mutations in Honduran Van der Woude syndrome patients. Mol. Med. Rep. 4:237241.
  • Butali, A., S. Suzuki, M. E. Cooper, A. M. Mansilla, K. Cuenco, E. J. Leslie, et al. 2013. Replication of genome wide association identified candidate genes confirm the role of common and rare mutations in PAX7 and VAX1 in the etiology of nonsyndromic CL(P). Am. J. Med. Genet. A 161:965972.
  • De Lima, R. L., S. A. Hoper, M. Ghassibe, M. E. Cooper, N. K. Rorick, S. Kondo, et al. 2009. Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome. Genet. Med. 11:241247.
  • Desmyter, L., M. Ghassibe, N. Revencu, O. Boute, M. Lees, G. François, et al. 2010. IRF6 screening of syndromic and a priori non-syndromic cleft lip and palate patients: identification of a new type of minor VWS sign. Mol. Syndromol. 1:6774.
  • Froster-Iskenius, U. G. 1990. Popliteal pterygium syndrome. J. Med. Genet. 27:320326.
  • Ghassibe, M., N. Revencu, B. Bayet, Y. Gillerot, R. Vanwijck, C. Verellen-Dumoulin, et al. 2004. Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene. J. Med. Genet. 41:e15.
  • Item, C. B., D. Turhani, D. Thurnher, K. Yerit, K. Sinko, G. Wittwer, et al. 2005. Van Der Woude syndrome: variable penetrance of a novel mutation (p.Arg 84Gly) of the IRF6 gene in a Turkish family. Int. J. Mol. Med. 2005(15):247251.
  • Kondo, S., B. C. Schutte, R. J. Richardson, B. C. Bjork, A. S. Knight, Y. Watanabe, et al. 2002. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat. Genet. 32:285289.
  • Kumar, P., S. Henikoff, and P. C. Ng. 2009. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat. Protoc. 4:10731081.
  • Lam, A. K., D. J. David, G. C. Townsend, and P. J. Anderson. 2010. Van der Woude syndrome: dentofacial features and implications for clinical practice. Aust. Dent. J. 55:5158.
  • Leslie, E. J., J. Standley, J. Compton, S. Bale, B. C. Schutte, and J. C. Murray. 2013. Comparative analysis of IRF6 mutationsin families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases. Genet. Med. 15:338344.
  • Malik, S., E. R. Wilcox, and S. Naz. 2013. Novel lip pit phenotypes and mutations of IRF6 in Van der Woude syndrome patients from Pakistan. Clin. Genet. doi:10.1111/cge.12207.
  • Miñones-Suárez, L., A. Mas-Vidal, J. Fernandez-Toral, I. Llano-Rivas, and M. González-García. 2012. A novel variant in the IRF6 gene associated with facial asymmetry in a family affected with Van der Woude syndrome. Pediatr. Dermatol. 29:768770.
  • Peyrard, M., E. J. Leslie, Y. A. Kousa, T. L. Smith, M. Dunnwal, M. Magnusson, et al. 2013. Dominant mutations in GRHL3 cause Van der Woude syndrome and disrupt oral periderm development. 63rd ASHG Meeting, Boston, MA.
  • Rizos, M., and M. N. Spyropoulos. 2004. Van der Woude syndrome: a review. Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counseling, and treatment. Eur. J. Orthod. 26:1724.
  • Salahshourifar, I., W. A. Wan Sulaiman, A. S. Halim, and B. A. Zilfalil. 2012. Variant screening of IRF6 among families with non-syndromic oral clefts and identification of two novel variants: review of the literature. Eur. J. Med. Genet. 55:389393.
  • Scioletti, A. P., F. Brancati, V. Gatta, I. Antonucci, B. Peissel, A. Pizzuti, et al. 2010. Two novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome. J. Craniofac. Surg. 21:16541656.
  • Tan, E. C., E. C. Lim, and S. T. Lee. 2013. De novo 2.3 Mb microdeletion of 1q32.2 involving the Van der Woude Syndrome locus. Mol. Cytogenet. 6:31.
  • Venselaar, H., T. A. Te Beek, R. K. Kuipers, M. L. Hekkelman, and G. Vriend. 2010. Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces. BMC Bioinformatics 11:548. doi:10.1186/1471-2105-11-548