Works matching AU Spiteri, Elizabeth

Results: 11
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    Foxp2 Regulates Gene Networks Implicated in Neurite Outgrowth in the Developing Brain.

    Published in:
    PLoS Genetics, 2011, v. 7, n. 7, p. 1, doi. 10.1371/journal.pgen.1002145
    By:
    • Vernes, Sonja C.;
    • Oliver, Peter L.;
    • Spiteri, Elizabeth;
    • Lockstone, Helen E.;
    • Puliyadi, Rathi;
    • Taylor, Jennifer M.;
    • Ho, Joses;
    • Mombereau, Cedric;
    • Brewer, Ariel;
    • Lowy, Ernesto;
    • Nicod, Jérôme;
    • Groszer, Matthias;
    • Baban, Dilair;
    • Sahgal, Natasha;
    • Cazier, Jean-Baptiste;
    • Ragoussis, Jiannis;
    • Davies, Kay E.;
    • Geschwind, Daniel H.;
    • Fisher, Simon E.
    Publication type:
    Article
    3

    Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes.

    Published in:
    Human Molecular Genetics, 2003, v. 12, n. 15, p. 1823, doi. 10.1093/hmg/ddg203
    By:
    • Spiteri, Elizabeth;
    • Babcock, Melanie;
    • Kashork, Catherine D.;
    • Wakui, Keiko;
    • Gogineni, Swarna;
    • Lewis, Debbie A.;
    • Williams, Kisa M.;
    • Minoshima, Shinsei;
    • Sasaki, Takashi;
    • Shimizu, Nobuyoshi;
    • Potocki, Lorraine;
    • Pulijaal, Venkat;
    • Shanske, Alan;
    • Shaffer, Lisa G.;
    • Morrow, Bernice E.
    Publication type:
    Article
    4

    A common molecular basis for rearrangement disorders on chromosome 22q11.

    Published in:
    Human Molecular Genetics, 1999, v. 8, n. 7, p. 1157, doi. 10.1093/hmg/8.7.1157
    By:
    • Edelmann, Lisa;
    • Pandita, Raj K.;
    • Spiteri, Elizabeth;
    • Funke, Birgit;
    • Goldberg, Rosalie;
    • Palanisamy, Nallasivam;
    • Changanti, R.S.K.;
    • Magenis, Ellen;
    • Shprintzen, Robert J.;
    • Morrow, Bernice E.
    Publication type:
    Article
    5

    Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.

    Published in:
    Neurogenetics, 2013, v. 14, n. 1, p. 11, doi. 10.1007/s10048-012-0349-2
    By:
    • Hsu, Sandy;
    • Sears, Renee;
    • Lemos, Roberta;
    • Quintáns, Beatriz;
    • Huang, Alden;
    • Spiteri, Elizabeth;
    • Nevarez, Lisette;
    • Mamah, Catherine;
    • Zatz, Mayana;
    • Pierce, Kerrie;
    • Fullerton, Janice;
    • Adair, John;
    • Berner, Jon;
    • Bower, Matthew;
    • Brodaty, Henry;
    • Carmona, Olga;
    • Dobricić, Valerija;
    • Fogel, Brent;
    • García-Estevez, Daniel;
    • Goldman, Jill
    Publication type:
    Article
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    8

    Best practices for the interpretation and reporting of clinical whole genome sequencing.

    Published in:
    NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00295-z
    By:
    • Austin-Tse, Christina A.;
    • Jobanputra, Vaidehi;
    • Perry, Denise L.;
    • Bick, David;
    • Taft, Ryan J.;
    • Venner, Eric;
    • Gibbs, Richard A.;
    • Young, Ted;
    • Barnett, Sarah;
    • Belmont, John W.;
    • Boczek, Nicole;
    • Chowdhury, Shimul;
    • Ellsworth, Katarzyna A.;
    • Guha, Saurav;
    • Kulkarni, Shashikant;
    • Marcou, Cherisse;
    • Meng, Linyan;
    • Murdock, David R.;
    • Rehman, Atteeq U.;
    • Spiteri, Elizabeth
    Publication type:
    Article
    9

    Comparison of the Transcriptomic Signatures in Pediatric and Adult CML.

    Published in:
    Cancers, 2021, v. 13, n. 24, p. 6263, doi. 10.3390/cancers13246263
    By:
    • Youn, Minyoung;
    • Smith, Stephanie M.;
    • Lee, Alex Gia;
    • Chae, Hee-Don;
    • Spiteri, Elizabeth;
    • Erdmann, Jason;
    • Galperin, Ilana;
    • Jones, Lara Murphy;
    • Donato, Michele;
    • Abidi, Parveen;
    • Bittencourt, Henrique;
    • Lacayo, Norman;
    • Dahl, Gary;
    • Aftandilian, Catherine;
    • Davis, Kara L.;
    • Matthews, Jairo A.;
    • Kornblau, Steven M.;
    • Huang, Min;
    • Sumarsono, Nathan;
    • Redell, Michele S.
    Publication type:
    Article
    10

    FANCI is a second monoubiquitinated member of the Fanconi anemia pathway.

    Published in:
    Nature Structural & Molecular Biology, 2007, v. 14, n. 6, p. 564, doi. 10.1038/nsmb1252
    By:
    • Sims, Ashley E.;
    • Spiteri, Elizabeth;
    • Sims, Robert J.;
    • Arita, Adriana G.;
    • Lach, Francis P.;
    • Landers, Thomas;
    • Wurm, Melanie;
    • Freund, Marcel;
    • Neveling, Kornelia;
    • Hanenberg, Helmut;
    • Auerbach, Arleen D.;
    • Huang, Tony T.
    Publication type:
    Article
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