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Lucy Osborne - Publications

Affiliations: 
Molecular and Medical Genetics University of Toronto, Toronto, ON, Canada 
Area:
Genetics, Human Development
Website:
http://www.moleculargenetics.utoronto.ca/faculty/2014/9/30/lucy-osborne
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29 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2023 Strong E, Mervis CB, Tam E, Morris CA, Klein-Tasman BP, Velleman SL, Osborne LR. DNA methylation profiles in individuals with rare, atypical 7q11.23 CNVs correlate with GTF2I and GTF2IRD1 copy number. Npj Genomic Medicine. 8: 25. PMID 37709781 DOI: 10.1038/s41525-023-00368-7  0.359
2021 Kozel BA, Barak B, Kim CA, Mervis CB, Osborne LR, Porter M, Pober BR. Williams syndrome. Nature Reviews. Disease Primers. 7: 42. PMID 34140529 DOI: 10.1038/s41572-021-00276-z  0.393
2021 Osborne LR, Mervis CB. 7q11.23 deletion and duplication. Current Opinion in Genetics & Development. 68: 41-48. PMID 33610060 DOI: 10.1016/j.gde.2021.01.013  0.341
2018 Deurloo MHS, Turlova E, Chen WL, Lin YW, Tam E, Tassew NG, Wu M, Huang YC, Crawley JN, Monnier PP, Groffen AJA, Sun HS, Osborne LR, Feng ZP. Transcription Factor 2I Regulates Neuronal Development via TRPC3 in 7q11.23 Disorder Models. Molecular Neurobiology. PMID 30120731 DOI: 10.1007/S12035-018-1290-7  0.303
2013 Kelsey L, Flenniken AM, Qu D, Funnell AP, Pearson R, Zhou YQ, Voronina I, Berberovic Z, Wood G, Newbigging S, Weiss ES, Wong M, Quach I, Yeh SY, Deshwar AR, ... ... Osborne L, et al. ENU-induced mutation in the DNA-binding domain of KLF3 reveals important roles for KLF3 in cardiovascular development and function in mice. Plos Genetics. 9: e1003612. PMID 23874215 DOI: 10.1371/Journal.Pgen.1003612  0.315
2013 Beunders G, Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, ... ... Osborne LR, et al. Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. American Journal of Human Genetics. 92: 210-20. PMID 23332918 DOI: 10.1016/J.Ajhg.2012.12.011  0.349
2012 Mervis CB, Dida J, Lam E, Crawford-Zelli NA, Young EJ, Henderson DR, Onay T, Morris CA, Woodruff-Borden J, Yeomans J, Osborne LR. Duplication of GTF2I results in separation anxiety in mice and humans. American Journal of Human Genetics. 90: 1064-70. PMID 22578324 DOI: 10.1016/J.Ajhg.2012.04.012  0.345
2010 Osborne LR. Animal models of Williams syndrome. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 154: 209-19. PMID 20425782 DOI: 10.1002/ajmg.c.30257  0.32
2008 Marshall CR, Young EJ, Pani AM, Freckmann ML, Lacassie Y, Howald C, Fitzgerald KK, Peippo M, Morris CA, Shane K, Priolo M, Morimoto M, Kondo I, Manguoglu E, Berker-Karauzum S, ... ... Osborne LR, et al. Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11. American Journal of Human Genetics. 83: 106-11. PMID 18565486 DOI: 10.1016/J.Ajhg.2008.06.001  0.374
2008 Tam E, Young EJ, Morris CA, Marshall CR, Loo W, Scherer SW, Mervis CB, Osborne LR. The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms. American Journal of Medical Genetics. Part A. 146: 1797-806. PMID 18553513 DOI: 10.1002/Ajmg.A.32360  0.301
2007 Davidson CE, Li Q, Churchill GA, Osborne LR, McDermid HE. Modifier locus for exencephaly in Cecr2 mutant mice is syntenic to the 10q25.3 region associated with neural tube defects in humans Physiological Genomics. 31: 244-251. PMID 17623803 DOI: 10.1152/Physiolgenomics.00062.2007  0.421
2007 Osborne LR, Mervis CB. Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development. Expert Reviews in Molecular Medicine. 9: 1-16. PMID 17565757 DOI: 10.1017/S146239940700035X  0.335
2006 Feuk L, Kalervo A, Lipsanen-Nyman M, Skaug J, Nakabayashi K, Finucane B, Hartung D, Innes M, Kerem B, Nowaczyk MJ, Rivlin J, Roberts W, Senman L, Summers A, Szatmari P, ... ... Osborne LR, et al. Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia American Journal of Human Genetics. 79: 965-972. PMID 17033973 DOI: 10.1086/508902  0.33
2006 Osborne LR, Joseph-George AM, Scherer SW. Williams-Beuren syndrome diagnosis using fluorescence in situ hybridization. Methods in Molecular Medicine. 126: 113-28. PMID 16930009 DOI: 10.1385/1-59745-088-X:113  0.41
2006 Zeesman S, Nowaczyk MJM, Teshima I, Roberts W, Cardy JO, Brian J, Senman L, Feuk L, Osborne LR, Scherer SW. Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2 American Journal of Medical Genetics. 140: 509-514. PMID 16470794 DOI: 10.1002/Ajmg.A.31110  0.424
2005 Somerville MJ, Mervis CB, Young EJ, Seo EJ, del Campo M, Bamforth S, Peregrine E, Loo W, Lilley M, Pérez-Jurado LA, Morris CA, Scherer SW, Osborne LR. Severe expressive-language delay related to duplication of the Williams-Beuren locus. The New England Journal of Medicine. 353: 1694-701. PMID 16236740 DOI: 10.1056/Nejmoa051962  0.32
2005 Scherer SW, Gripp KW, Lucena J, Nicholson L, Bonnefont JP, Pérez-Jurado LA, Osborne LR. Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children. Human Genetics. 117: 383-8. PMID 15933846 DOI: 10.1007/S00439-005-1325-9  0.313
2005 Wood GA, Flenniken A, Osborne L, Fleming C, Vukobradovic I, Morikawa L, Xu Q, Porter R, Adamson SL, Rossant J, McKerlie C. Two mouse mutations mapped to chromosome 11 with differing morphologies but similar progressive inflammatory alopecia Experimental Dermatology. 14: 373-379. PMID 15854131 DOI: 10.1111/J.0906-6705.2005.00291.X  0.339
2003 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 KW, Stock AD. GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region. American Journal of Medical Genetics. Part A. 123: 45-59. PMID 14556246 DOI: 10.1002/Ajmg.A.20496  0.387
2003 Crackower MA, Kolas NK, Noguchi J, Sarao R, Kikuchi K, Kaneko H, Kobayashi E, Kawai Y, Kozieradzki I, Landers R, Mo R, Hui CC, Nieves E, Cohen PE, Osborne LR, et al. Essential role of Fkbp6 in male fertility and homologous chromosome pairing in meiosis. Science (New York, N.Y.). 300: 1291-5. PMID 12764197 DOI: 10.1126/Science.1083022  0.415
2003 Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, et al. Human chromosome 7: DNA sequence and biology. Science (New York, N.Y.). 300: 767-72. PMID 12690205 DOI: 10.1126/Science.1083423  0.579
2003 Gruszka-Westwood AM, Hamoudi R, Osborne L, Matutes E, Catovsky D. Deletion mapping on the long arm of chromosome 7 in splenic lymphoma with villous lymphocytes. Genes, Chromosomes & Cancer. 36: 57-69. PMID 12461750 DOI: 10.1002/Gcc.10142  0.496
2002 Wu YQ, Bejjani BA, Tsui LC, Mandel A, Osborne LR, Shaffer LG. Refinement of the genomic structure of STX1A and mutation analysis in nondeletion Williams syndrome patients. American Journal of Medical Genetics. 109: 121-4. PMID 11977160 DOI: 10.1002/Ajmg.10321  0.573
2001 Osborne L, Pober B, Lombroso PJ. Genetics of childhood disorders: XXVII. Genes and cognition in Williams syndrome Journal of the American Academy of Child and Adolescent Psychiatry. 40: 732-735. PMID 11392353 DOI: 10.1097/00004583-200106000-00021  0.372
2000 Metcalfe K, Rucka AK, Smoot L, Hofstadler G, Tuzler G, McKeown P, Siu V, Rauch A, Dean J, Dennis N, Ellis I, Reardon W, Cytrynbaum C, Osborne L, Yates JR, et al. Elastin: mutational spectrum in supravalvular aortic stenosis. European Journal of Human Genetics : Ejhg. 8: 955-63. PMID 11175284 DOI: 10.1038/Sj.Ejhg.5200564  0.371
1997 Cotter FE, Johnson EJ, Todd R, Scherer SW, Osborne L, Tsui L, Oscier D, Mould S. 141 Molecular definition of two narrow interval at 7q22.1 and 7Q34 associated with myelodysplasia Leukemia Research. 21. DOI: 10.1016/S0145-2126(97)81351-3  0.377
1996 Takahara K, Osborne L, Elliott RW, Tsui LC, Scherer SW, Greenspan DS. Fine mapping of the human and mouse genes for the type I procollagen COOH-terminal proteinase enhancer protein. Genomics. 31: 253-6. PMID 8824813 DOI: 10.1006/Geno.1996.0043  0.61
1996 Johnson E, Scherer S, Osborne L, Tsui L, Oscier D, Mould S, Cotter F. Molecular definition of a narrow interval at 7q22.1 associated with myelodysplasia Blood. 87: 3579-3586. DOI: 10.1182/Blood.V87.9.3579.Bloodjournal8793579  0.606
1990 Santis G, Osborne L, Knight R, Ramsay M, Williamson R, Hodson M. Cystic fibrosis haplotype association and the ΔF508 mutation in adult British CF patients Human Genetics. 85: 424-425. PMID 2210760 DOI: 10.1007/Bf02428295  0.392
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