Found: 9

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  • Long‐read whole genome sequencing reveals HOXD13 alterations in synpolydactyly.

    Published in:
    Human Mutation, 2022, v. 43, n. 2, p. 189, doi. 10.1002/humu.24304
    By:
    • Melas, Marilena;
    • Kautto, Esko A.;
    • Franklin, Samuel J.;
    • Mori, Mari;
    • McBride, Kim L.;
    • Mosher, Theresa Mihalic;
    • Pfau, Ruthann B.;
    • Hernandez‐Gonzalez, Maria Elena;
    • McGrath, Sean D.;
    • Magrini, Vincent J.;
    • White, Peter;
    • Samora, Julie Balch;
    • Koboldt, Daniel C.;
    • Wilson, Richard K.
    Publication type:
    Article

  • Discovery of clinically relevant fusions in pediatric cancer.

    Published in:
    BMC Genomics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s12864-021-08094-z
    By:
    • LaHaye, Stephanie;
    • Fitch, James R.;
    • Voytovich, Kyle J.;
    • Herman, Adam C.;
    • Kelly, Benjamin J.;
    • Lammi, Grant E.;
    • Arbesfeld, Jeremy A.;
    • Wijeratne, Saranga;
    • Franklin, Samuel J.;
    • Schieffer, Kathleen M.;
    • Bir, Natalie;
    • McGrath, Sean D.;
    • Miller, Anthony R.;
    • Wetzel, Amy;
    • Miller, Katherine E.;
    • Bedrosian, Tracy A.;
    • Leraas, Kristen;
    • Varga, Elizabeth A.;
    • Lee, Kristy;
    • Gupta, Ajay
    Publication type:
    Article

  • Gastroblastoma with a novel EWSR1‐CTBP1 fusion presenting in adolescence.

    Published in:
    Genes, Chromosomes & Cancer, 2021, v. 60, n. 9, p. 640, doi. 10.1002/gcc.22973
    By:
    • Koo, Selene C.;
    • LaHaye, Stephanie;
    • Kovari, Bence P.;
    • Schieffer, Kathleen M.;
    • Ranalli, Mark A.;
    • Aldrink, Jennifer H.;
    • Michalsky, Marc P.;
    • Colace, Susan;
    • Miller, Katherine E.;
    • Bedrosian, Tracy A.;
    • Leraas, Kristen M.;
    • Voytovich, Kyle;
    • Wheeler, Gregory;
    • Brennan, Patrick;
    • Fitch, James;
    • Kelly, Benjamin J.;
    • McGrath, Sean D.;
    • Miller, Anthony R.;
    • White, Peter;
    • Magrini, Vincent
    Publication type:
    Article

  • Infantile fibrosarcoma-like tumor driven by novel RBPMS-MET fusion consolidated with cabozantinib.

    Published in:
    Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 5, p. 1, doi. 10.1101/mcs.a005645
    By:
    • Gupta, Ajay;
    • Belsky, Jennifer A.;
    • Schieffer, Kathleen M.;
    • Leraas, Kristen;
    • Varga, Elizabeth;
    • McGrath, Sean D.;
    • Koo, Selene C.;
    • Magrini, Vincent;
    • Wilson, Richard K.;
    • White, Peter;
    • Mardis, Elaine R.;
    • Jatana, Kris R.;
    • Cottrell, Catherine E.;
    • Setty, Bhuvana A.
    Publication type:
    Article

  • Chimpanzee and human Y chromosomes are remarkably divergent in structure and gene content.

    Published in:
    Nature, 2010, v. 463, n. 7280, p. 536, doi. 10.1038/nature08700
    By:
    • Hughes, Jennifer F.;
    • Skaletsky, Helen;
    • Pyntikova, Tatyana;
    • Graves, Tina A.;
    • van Daalen, Saskia K. M.;
    • Minx, Patrick J.;
    • Fulton, Robert S.;
    • McGrath, Sean D.;
    • Locke, Devin P.;
    • Friedman, Cynthia;
    • Trask, Barbara J.;
    • Mardis, Elaine R.;
    • Warren, Wesley C.;
    • Repping, Sjoerd;
    • Rozen, Steve;
    • Wilson, Richard K.;
    • Page, David C.
    Publication type:
    Article

  • BreakDancer: an algorithm for high-resolution mapping of genomic structural variation.

    Published in:
    Nature Methods, 2009, v. 6, n. 9, p. 677, doi. 10.1038/nmeth.1363
    By:
    • Chen, Ken;
    • Wallis, John W.;
    • McLellan, Michael D.;
    • Larson, David E.;
    • Kalicki, Joelle M.;
    • Pohl, Craig S.;
    • McGrath, Sean D.;
    • Wendl, Michael C.;
    • Qunyuan Zhang;
    • Locke, Devin P.;
    • Xiaoqi Shi;
    • Fulton, Robert S.;
    • Ley, Timothy J.;
    • Wilson, Richard K.;
    • Li Ding;
    • Mardis, Elaine R.
    Publication type:
    Article

  • Transcriptome-Wide Identification of Novel Imprinted Genes in Neonatal Mouse Brain.

    Published in:
    PLoS ONE, 2008, v. 3, n. 12, p. 1, doi. 10.1371/journal.pone.0003839
    By:
    • Xu Wang;
    • Qi Sun;
    • McGrath, Sean D.;
    • Mardis, Elaine R.;
    • Soloway, Paul D.;
    • Clark, Andrew G.
    Publication type:
    Article

  • Lineage-Specific Expansions of Retroviral Insertions within the Genomes of African Great Apes but Not Humans and Orangutans.

    Published in:
    PLoS Biology, 2005, v. 3, n. 4, p. 577, doi. 10.1371/journal.pbio.0030110
    By:
    • Yohn, Chris T.;
    • Jiang, Zhaoshi;
    • McGrath, Sean D.;
    • Hayden, Karen E.;
    • Khaitovich, Philipp;
    • Johnson, Matthew E.;
    • Eichler, Marla Y.;
    • McPherson, John D.;
    • Zhao, Shaying;
    • Pääbo, Svante;
    • Eichler, Evan E.
    Publication type:
    Article

  • Extreme warfarin sensitivity in siblings associated with multiple cytochrome P450 polymorphisms.

    Published in:
    American Journal of Hematology, 2001, v. 67, n. 2, p. 144, doi. 10.1002/ajh.1094
    By:
    • Tabrizi, Arash Rafii;
    • McGrath, Sean D.;
    • Blinder, Morey A.;
    • Buchman, Timothy G.;
    • Zehnbauer, Barbara A.;
    • Freeman, Bradley D.
    Publication type:
    Article