Peer-Reviewed Papers (selected)
Khattak S, Brimble E, Zhang W, Zaslavsky K, Strong E, Ross JP, Hendry J, Mital S, Salter MW, Osborne LR, Ellis J. Human induced pluripotent stem cell derived neurons as a model for Williams–Beuren syndrome. Molecular Brain 18:77.
Morris CA, Mervis CB, Paciorkowski AP, Abdul-Rahman O, Dugan SL, Rope AF, Bader P, Hendon LG, Velleman SL, Klein-Tasman BP, Osborne LR. (2015) 7q11.23 duplication syndrome: Physical characteristics and natural history. Am J Med Genet A 167A:2916-2935.
Strong E, Butcher DT, Mervis CB, Morris CA, De Carvalho D, Weksberg R, Osborne LR. (2015). Symmetrical dose-dependent DNA-methylation profiles in children with deletion or duplication of 7q11.23. Am J Hum Genet 97:216-227.
Mervis CB, Klein-Tasman BP, Huffman MJ, Velleman SL, Pitts CH, Henderson DR, Woodruff-Borden J, Morris CA, Osborne LR. (2015). Children with 7q11.23 duplication syndrome: Psychological characteristics. Am J Med Genet A 167:1436-50.
Sinai L, Ivakine EA, Lam E, Deurloo M, Dida J, Zirngibl RA, Jung C, Feng ZP, Aubin JE, Yeomans J, McInnes RR, Osborne LR, Roder JC. (2015) Disruption of Src is associated with phenotypes related to Williams-Beuren syndrome and altered localization of TFII-I. eNeuro 2.
Ellegood J, Anagnostou E, Babineau BA, Crawley JN, Lin L, Genestine M, DiCicco-Bloom E, Lai JKY, Foster J, Penagarikano O, Geschwind DH, Pacey LK, Hampson DR, Laliberté CL, Horev G, Mills AA, Tam EJ, Osborne LR, Kouser M, Espinosa-Becerra F, Xuan Z, Powell CM, Raznahan A, Robins DM, Nakai N, Nakatani J, Takumi T, van Eede MC, Kerr TM, Muller C, Blakely RD, Veenstra-VanderWeele J, Henkelman RM, Lerch JP. (2015) Clustering autism – using neuroanatomical differences in 27 mouse models related to autism to gain insight into the heterogeneity of the disorder. Molecular Psychiatry 20:118-25.
Mervis CB, Dida J, Lam E, Crawford-Zelli NA, Young EJ, Henderson DR, Onay T, Morris CA, Woodruff-Borden J, Yeomans J, Osborne LR. (2012) Duplication of GTF2I results in separation anxiety in mice and humans. Am J Hum Genet 90: 1064-70.
O’Leary J, Osborne LR. (2011) Global analysis of gene expression in the developing brain of Gtf2ird1 knockout mice. PLoS One 6:e23868.
Morris CA, Mervis CB, Osborne LR. (2011) Frequency of the 7q11.23 inversion polymorphism in transmitting parents of children with Williams syndrome and in the general population does not differ between North America and Europe. Mol Cytogenet 4:7.
Proulx E, Young EJ, Osborne LR, Lambe EK. (2010) Enhanced prefrontal serotonin 5-HT1A currents in a mouse model of Williams-Beuren syndrome with low anxiety. J Neurodev Disord 2:99-108.
Marshall CR, Young EJ, Pani AM, Freckmann M-L, Lacassie Y, Howald C, Fitzgerald K, Peippo M, Morris CA, Shane K, Priolo M, Morimoto M, Kondo I, Manguoglu E, Berker-Karauzum S, Edery P, Hobart HH, Mervis CB, Zuffardi O, Reymond A, Kaplan P, Tassabehji M, Gregg RG, Scherer SW, Osborne LR. (2008) Infantile spasms associated with deletion of the MAGI2 gene on chromosome 7q11.23-7q21.11. Am J Hum Genet 83:106-11.
Tam E, Young EJ, Morris CA, Marshall CR, Loo W, Scherer SW, Mervis CB, Osborne LR. (2008) The common inversion of the Williams-Beuren syndrome region does not cause clinical symptoms. Am J Med Genet 146A:1797-806.
Young EJ, Lipina TV, Tam E, Mandel A, Clapcote SJ, Bechard A, Chambers J, Mount HT, Fletcher PJ, Roder JC, Osborne LR. (2008) Reduced fear and aggression and altered serotonin metabolism in Gtf2ird1-targeted mice. Genes Brain Behav 7:224-34.
Somerville MJ, Mervis CB, Young EJ, Seo E-J, del Campo M, Bamforth JS, Peregrine E, Loo W, Lilley M, Perez-Jurado LA, Morris CA, Scherer SW, Osborne LR. (2005) Duplication of a commonly deleted region on chromosome 7 causes severe speech delay. N Eng J Med 353:1694-701.
Lam PPL, Leung Y-M, Sheu L, Pasyk E, Ellis J, Tsushima RG, Osborne LR, Gaisano HY. Transgenic mouse over-expressing Syntaxin-1A as a diabetes mouse model. (2005) Diabetes 54: 2744-54.
Scherer SW, Gripp KW, Lucena J, Nicholson L, Bonnefont J-P, Peréz-Jurado LA, Osborne LR. (2005) Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children. Hum Genet 4:383-88.
Morris CA, Mervis CB, Hobart HH, Gregg RG, Bertrand J, Ensing GJ, Sommer A, Moore CA, Hopkin RJ, Spallone PA, Keating MT, Osborne L, Kimberley K, Stock AD. (2003) GTF2I hemizygosity implicated in mental retardation in Williams syndrome: Genotype-phenotype analysis of five families with deletions in the Williams syndrome region. Am J Med Genet 123A:45-59.
Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, et al. (2003) Human chromosome 7: DNA sequence and biology. Science 300:767-72.
Osborne LR, Li M, Pober B, Chitayat D, Bodurtha J, Mandel A, Costa T, Grebe T, Cox S, Tsui LC, Scherer SW. (2001) A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nat Genet 29:321-5
Book Chapters and Reviews
Mervis CB, Morris CA, Klein-Tasman BP, Velleman SL, Osborne LR. (2015) 7q11.23 Duplication Syndrome. In GeneReviews(R), Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, and Stephens K, eds. (Seattle: University of Washington,WA).
Osborne LR and Jia ZP. (2013) Williams Syndrome, in “Handbook of Behavioral Genetics of the Mouse”, WE Crusio, F Slyter and S Pietropaolo (eds) Cambridge University Press.
Osborne LR. (2011) Genes: The Gene Expression Approach, in “Neurodevelopmental disorders across the lifespan: A Neuroconstructivist approach”, EK Farran and A Karmiloff-Smith (eds) Oxford University Press.
Osborne LR (2010) Mouse models of Williams-Beuren syndrome. Am J Med Genet C 154: 209-219.
Osborne LR (2009) "Williams-Beuren syndrome locus: a model of CNV affecting gene dosage and phenotypes" in Scherer SW (ed.) Copy Number Variation: The Biomedical & Life Sciences Collection, Henry Stewart Talks Ltd, London (online at http://www.hstalks.com/?t=BL0812203-Osborne)