• Antonell, A., Del Campo, M., Magano, L.F., Kaufmann, L., de la Iglesia, J.M., et al. (2010). Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile. Journal of Medical Genetics, 47, 312320.
  • Chimge, N.O., Makeyev, A.V., Ruddle, F.H., & Bayarsaihan, D. (2008). Identification of the TFII-I family target genes in the vertebrate genome. Proceedings of the National Academy of Sciences of the United States of America, 105, 90069010.
  • Copp, A.J., & Greene, N.D. (2010). Genetics and development of neural tube defects. Journal of Pathology, 220, 217230.
  • Dai, L., Bellugi, U., Chen, X.N., Pulst-Korenberg, A.M., Jarvinen-Pasley, A., et al. (2009). Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays. American Journal of Medical Genetics, Part A, 149A, 302314.
  • Edelmann, L., Prosnitz, A., Pardo, S., Bhatt, J., Cohen, N., et al. (2007). An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism. Journal of Medical Genetics, 44, 136143.
  • Elder, G.A., Ragnauth, A., Dorr, N., Franciosi, S., Schmeidler, J., et al. (2008). Increased locomotor activity in mice lacking the low-density lipoprotein receptor. Behavioural Brain Research, 191, 256265.
  • Enkhmandakh, B., Makeyev, A.V., Erdenechimeg, L., Ruddle, F.H., Chimge, N.O., et al. (2009). Essential functions of the Williams-Beuren syndrome-associated TFII-I genes in embryonic development. Proceedings of the National Academy of Sciences of the United States of America, 106, 181186.
  • Ewart, A.K., Morris, C.A., Atkinson, D., Jin, W., Sternes, K., et al. (1993). Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nature Genetics, 5, 1116.
  • Ferrero, G.B., Howald, C., Micale, L., Biamino, E., Augello, B., et al. (2010). An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient. European Journal of Human Genetics, 18, 3338.
  • Gao, M.C., Bellugi, U., Dai, L., Mills, D.L., Sobel, E.M., et al. (2010). Intelligence in Williams Syndrome is related to STX1A, which encodes a component of the presynaptic SNARE complex. PLoS One, 5, e10292.
  • Lazebnik, M.B., Tussie-Luna, M.I., Hinds, P.W., & Roy, A.L. (2009). Williams-Beuren syndrome-associated transcription factor TFII-I regulates osteogenic marker genes. The Journal of Biological Chemistry, 284, 3623436239.
  • Li, H.H., Roy, M., Kuscuoglu, U., Spencer, C.M., Halm, B., et al. (2009). Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice. EMBO Molecular Medicine, 1, 5065.
  • Makeyev, A., & Bayarsaihan, D. (2010). Molecular Basis of Williams-Beuren Syndrome: TFII-I Regulated Targets Involved in the Craniofacial Development. The Cleft Palate-craniofacial Journal. Epub ahead of print.
  • Merla, G., Brunetti-Pierri, N., Micale, L., & Fusco, C. (2010). Copy number variants at Williams-Beuren syndrome 7q11.23 region. Human Genetics, 128, 326.
  • Moy, S.S., Nadler, J.J., Young, N.B., Perez, A., Holloway, L.P., et al. (2007). Mouse behavioral tasks relevant to autism: phenotypes of 10 inbred strains. Behavioural Brain Research, 176, 420.
  • Osborne, L.R. (2010). Animal models of Williams syndrome. American Journal of Medical Genetics, Part C, 154C, 209219.
  • Pober, B.R. (2010). Williams-Beuren syndrome. New England Journal of Medicine, 362, 239252.
  • Rogers, D.C., Fisher, E.M., Brown, S.D., Peters, J., Hunter, A.J., & Martin, J.E. (1997). Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment. Mammalian Genome, 8, 711713.
  • Sakurai, T., Ramoz, N., Barreto, M., Gazdoiu, M., Takahashi, N., et al. (2010). Slc25a12 disruption alters myelination and neurofilaments: a model for a hypomyelination syndrome and childhood neurodevelopmental disorders. Biological Psychiatry, 67, 887894.
  • Tassabehji, M., Hammond, P., Karmiloff-Smith, A., Thompson, P., Thorgeirsson, S.S., et al. (2005). GTF2IRD1 in craniofacial development of humans and mice. Science, 310, 11841187.
  • van Hagen, J.M., van der Geest, J.N., van der Giessen, R.S., Lagers-van Haselen, G.C., Eussen, H.J., et al. (2007). Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome. Neurobiology of Disease, 26, 112124.
  • Young, E.J., Lipina, T., Tam, E., Mandel, A., Clapcote, S.J., et al. (2008). Reduced fear and aggression and altered serotonin metabolism in Gtf2ird1-targeted mice. Genes, Brain, and Behavior, 7, 224234.