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    van de Leemput, Joyce

    TitleAssistant Project Scientist
    SchoolUniversity of California, San Diego
    DepartmentPsychiatry
    Address9500 Gilman Drive #0603
    CA La Jolla 92093
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      Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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      1. Joseph J, Kremen WS, Franz CE, Glatt SJ, van de Leemput J, Chandler SD, Tsuang MT, Twamley EW. Predictors of current functioning and functional decline in schizophrenia. Schizophr Res. 2017 Jan 27. PMID: 28139356.
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      2. van de Leemput J, Hess JL, Glatt SJ, Tsuang MT. Genetics of Schizophrenia: Historical Insights and Prevailing Evidence. Adv Genet. 2016; 96:99-141. PMID: 27968732.
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      3. van de Leemput J, Glatt SJ, Tsuang MT. The potential of genetic and gene expression analysis in the diagnosis of neuropsychiatric disorders. Expert Rev Mol Diagn. 2016 Mar 26. PMID: 27017833.
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      4. Johnson JO, Stevanin G, van de Leemput J, Hernandez DG, Arepalli S, Forlani S, Zonozi R, Gibbs JR, Brice A, Durr A, Singleton AB. A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome. Mov Disord. 2015 Feb; 30(2):262-6. PMID: 25545641.
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      5. van de Leemput J, Boles NC, Kiehl TR, Corneo B, Lederman P, Menon V, Lee C, Martinez RA, Levi BP, Thompson CL, Yao S, Kaykas A, Temple S, Fasano CA. CORTECON: A Temporal Transcriptome Analysis of In Vitro Human Cerebral Cortex Development from Human Embryonic Stem Cells. Neuron. 2014 Jul 2; 83(1):51-68. PMID: 24991954.
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      6. Agler C, Nielsen DM, Urkasemsin G, Singleton A, Tonomura N, Sigurdsson S, Tang R, Linder K, Arepalli S, Hernandez D, Lindblad-Toh K, van de Leemput J, Motsinger-Reif A, O'Brien DP, Bell J, Harris T, Steinberg S, Olby NJ. Canine Hereditary Ataxia in Old English Sheepdogs and Gordon Setters Is Associated with a Defect in the Autophagy Gene Encoding RAB24. PLoS Genet. 2014 Feb; 10(2):e1003991. PMID: 24516392.
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      7. Marelli C, van de Leemput J, Johnson JO, Tison F, Thauvin-Robinet C, Picard F, Tranchant C, Hernandez DG, Huttin B, Boulliat J, Sangla I, Marescaux C, Brique S, Dollfus H, Arepalli S, Benatru I, Ollagnon E, Forlani S, Hardy J, Stevanin G, Dürr A, Singleton A, Brice A. SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia. Arch Neurol. 2011 May; 68(5):637-43. PMID: 21555639.
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      8. van de Leemput J, Wavrant-De Vrièze F, Rafferty I, Bras JM, Giunti P, Fisher EM, Hardy JA, Singleton AB, Houlden H. Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series. Mov Disord. 2010 Apr 30; 25(6):771-3. PMID: 20437544.
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      9. Schorge S, van de Leemput J, Singleton A, Houlden H, Hardy J. Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling. Trends Neurosci. 2010 May; 33(5):211-9. PMID: 20226542.
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      10. Knight MA, Hernandez D, Diede SJ, Dauwerse HG, Rafferty I, van de Leemput J, Forrest SM, Gardner RJ, Storey E, van Ommen GJ, Tapscott SJ, Fischbeck KH, Singleton AB. A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20. Hum Mol Genet. 2008 Dec 15; 17(24):3847-53. PMID: 18801880.
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      11. Melzer D, Perry JR, Hernandez D, Corsi AM, Stevens K, Rafferty I, Lauretani F, Murray A, Gibbs JR, Paolisso G, Rafiq S, Simon-Sanchez J, Lango H, Scholz S, Weedon MN, Arepalli S, Rice N, Washecka N, Hurst A, Britton A, Henley W, van de Leemput J, Li R, Newman AB, Tranah G, Harris T, Panicker V, Dayan C, Bennett A, McCarthy MI, Ruokonen A, Jarvelin MR, Guralnik J, Bandinelli S, Frayling TM, Singleton A, Ferrucci L. A genome-wide association study identifies protein quantitative trait loci (pQTLs). PLoS Genet. 2008 May; 4(5):e1000072. PMID: 18464913.
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      12. Jakobsson M, Scholz SW, Scheet P, Gibbs JR, VanLiere JM, Fung HC, Szpiech ZA, Degnan JH, Wang K, Guerreiro R, Bras JM, Schymick JC, Hernandez DG, Traynor BJ, Simon-Sanchez J, Matarin M, Britton A, van de Leemput J, Rafferty I, Bucan M, Cann HM, Hardy JA, Rosenberg NA, Singleton AB. Genotype, haplotype and copy-number variation in worldwide human populations. Nature. 2008 Feb 21; 451(7181):998-1003. PMID: 18288195.
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      13. van de Leemput J, Chandran J, Knight MA, Holtzclaw LA, Scholz S, Cookson MR, Houlden H, Gwinn-Hardy K, Fung HC, Lin X, Hernandez D, Simon-Sanchez J, Wood NW, Giunti P, Rafferty I, Hardy J, Storey E, Gardner RJ, Forrest SM, Fisher EM, Russell JT, Cai H, Singleton AB. Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet. 2007 Jun; 3(6):e108. PMID: 17590087.
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      14. Spijker S, van de Leemput JC, Hoekstra C, Boomsma DI, Smit AB. Profiling gene expression in whole blood samples following an in-vitro challenge. Twin Res. 2004 Dec; 7(6):564-70. PMID: 15607006.
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