Found: 131

Select item for more details and to access through your institution.

  • Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case‐based review.

    Published in:
    Genes, Chromosomes & Cancer, 2023, v. 62, n. 1, p. 39, doi. 10.1002/gcc.23081
    By:
    • De Faria, Flavia Watusi;
    • Schieffer, Kathleen M.;
    • Pierson, Christopher R.;
    • Boue, Daniel R.;
    • LaHaye, Stephanie;
    • Miller, Katherine E.;
    • Amayiri, Nisreen;
    • Koboldt, Daniel C.;
    • Lichtenberg, Tara;
    • Leraas, Kristen;
    • Brennan, Patrick;
    • Kelly, Ben;
    • White, Peter;
    • Magrini, Vincent;
    • Wilson, Richard K.;
    • Mardis, Elaine R.;
    • Cottrell, Catherine E.;
    • Rusin, Jerome;
    • Finlay, Jonathan L.;
    • Osorio, Diana S.
    Publication type:
    Article

  • EGFR internal tandem duplications in fusion‐negative congenital and neonatal spindle cell tumors.

    Published in:
    Genes, Chromosomes & Cancer, 2023, v. 62, n. 1, p. 17, doi. 10.1002/gcc.23087
    By:
    • Koo, Selene C.;
    • Schieffer, Kathleen M.;
    • Lee, Kristy;
    • Gupta, Ajay;
    • Pfau, Ruthann B.;
    • Avenarius, Matthew R.;
    • Stonerock, Eileen;
    • LaHaye, Stephanie;
    • Fitch, James;
    • Setty, Bhuvana A.;
    • Roberts, Ryan;
    • Ranalli, Mark;
    • Conces, Miriam R.;
    • Bu, Fang;
    • Mardis, Elaine R.;
    • Cottrell, Catherine E.
    Publication type:
    Article

  • Novel morphologic findings in PLAG1‐rearranged soft tissue tumors.

    Published in:
    Genes, Chromosomes & Cancer, 2021, v. 60, n. 8, p. 577, doi. 10.1002/gcc.22953
    By:
    • Logan, Suzanna J.;
    • Schieffer, Kathleen M.;
    • Conces, Miriam R.;
    • Stonerock, Eileen;
    • Miller, Anthony R.;
    • Fitch, James;
    • LaHaye, Stephanie;
    • Voytovich, Kyle;
    • McGrath, Sean;
    • Magrini, Vincent;
    • White, Peter;
    • Wilson, Richard K.;
    • Mardis, Elaine R.;
    • Cottrell, Catherine E.;
    • Koo, Selene C.
    Publication type:
    Article

  • Novel inherited CDX2 variant segregating in a family with diverse congenital malformations of the genitourinary system.

    Published in:
    Cold Spring Harbor Molecular Case Studies, 2023, v. 9, n. 4, p. 1, doi. 10.1101/mcs.a006294
    By:
    • Ramadesikan, Swetha;
    • Colwell, Caitlyn M.;
    • Supinger, Rachel;
    • Hunter, Jesse;
    • Thomas, Jessica;
    • Varga, Elizabeth;
    • Mardis, Elaine R.;
    • Wood, Richard J.;
    • Koboldt, Daniel C.
    Publication type:
    Article

  • Expanding the clinical phenotype of FGFR1 internal tandem duplication.

    Published in:
    Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006174
    By:
    • Kautto, Esko A.;
    • Schieffer, Kathleen M.;
    • McGrath, Sean;
    • Miller, Anthony R.;
    • Hernandez-Gonzalez, Maria Elena;
    • Choi, Samantha;
    • Conces, Miriam R.;
    • Fernandez-Faith, Esteban;
    • Mai-Lan Ho;
    • Lee, Kristy;
    • Lillis, Anna P.;
    • Pearson, Gregory D.;
    • Kaler, Stephen G.;
    • Wilson, Richard K.;
    • Mardis, Elaine R.;
    • Magrini, Vincent;
    • Leonard, Jeffrey;
    • Cottrell, Catherine E.
    Publication type:
    Article

  • Somatic variation as an incidental finding in the pediatric next-generation sequencing era.

    Published in:
    Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 6, p. 1, doi. 10.1101/mcs.a006135
    By:
    • Melas, Marilena;
    • Mathew, Mariam T.;
    • Mori, Mari;
    • Jayaraman, Vijayakumar;
    • Wilson, Sarah A.;
    • Martin, Cortlandt;
    • Jacobson-Kelly, Amanda E.;
    • Kelly, Ben J.;
    • Magrini, Vincent;
    • Mardis, Elaine R.;
    • Cottrell, Catherine E.
    Publication type:
    Article

  • Clinical response to dabrafenib plus trametinib in a pediatric ganglioglioma with BRAF p.T599dup mutation.

    Published in:
    Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 2, p. 1, doi. 10.1101/mcs.a006023
    By:
    • Miller, Katherine E.;
    • Schieffer, Kathleen M.;
    • Grischow, Olivia;
    • Rodriguez, Diana P.;
    • Cottrell, Catherine E.;
    • Leonard, Jeffrey R.;
    • Finlay, Jonathan L.;
    • Mardis, Elaine R.
    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

  • Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.

    Published in:
    Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a005231
    By:
    • Miller, Cecelia R.;
    • Lee, Kristy;
    • Pfau, Ruthann B.;
    • Reshmi, Shalini C.;
    • Corsmeier, Donald J.;
    • Sayaka Hashimoto;
    • Dave-Wala, Ashita;
    • Jayaraman, Vijayakumar;
    • Koboldt, Daniel;
    • Matthews, Theodora;
    • Mouhlas, Danielle;
    • Stein, Maggie;
    • McKinney, Aimee;
    • Grossman, Tom;
    • Kelly, Benjamin J.;
    • White, Peter;
    • Magrini, Vincent;
    • Wilson, Richard K.;
    • Mardis, Elaine R.;
    • Cottrell, Catherine E.
    Publication type:
    Article

  • Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

    Published in:
    Scientific Reports, 2015, p. 9124, doi. 10.1038/srep09124
    By:
    • Steinberg, Karyn Meltz;
    • Yu, Bing;
    • Koboldt, Daniel C.;
    • Mardis, Elaine R.;
    • Pamphlett, Roger
    Publication type:
    Article

  • BreakTrans: uncovering the genomic architecture of gene fusions.

    Published in:
    Genome Biology, 2013, v. 14, n. 8, p. R87, doi. 10.1186/gb-2013-14-8-r87
    By:
    • Ken Chen;
    • Navin, Nicholas E;
    • Yong Wang;
    • Schmidt, Heather K;
    • Wallis, John W;
    • Niu, Beifang;
    • Xian Fan;
    • Hao Zhao;
    • McLellan, Michael D;
    • Hoadley, Katherine A;
    • Mardis, Elaine R;
    • Ley, Timothy J;
    • Perou, Charles M;
    • Wilson, Richard K;
    • Li Ding
    Publication type:
    Article

  • Assessing telomeric DNA content in pediatric cancers using whole-genome sequencing data.

    Published in:
    Genome Biology, 2012, v. 13, n. 12, p. 1, doi. 10.1186/gb-2012-13-12-r113
    By:
    • Parker, Matthew;
    • Xiang Chen;
    • Bahrami, Armita;
    • Dalton, James;
    • Rusch, Michael;
    • Gang Wu;
    • Easton, John;
    • Nai-Kong Cheung;
    • Dyer, Michael;
    • Mardis, Elaine R.;
    • Wilson, Richard K.;
    • Mullighan, Charles;
    • Gilbertson, Richard;
    • Baker, Suzanne J.;
    • Zambetti, Gerard;
    • Ellison, David W.;
    • Downing, James R.;
    • Jinghui Zhang
    Publication type:
    Article

  • A vertebrate case study of the quality of assemblies derived from next-generation sequences.

    Published in:
    Genome Biology, 2011, v. 12, n. 3, p. 1, doi. 10.1186/gb-2011-12-3-r31
    By:
    • Ye, Liang;
    • Hillier, LaDeana W.;
    • Minx, Patrick;
    • Thane, Nay;
    • Locke, Devin P.;
    • Martin, John C.;
    • Chen, Lei;
    • Mitreva, Makedonka;
    • Miller, Jason R.;
    • Haub, Kevin V.;
    • Dooling, David J.;
    • Mardis, Elaine R.;
    • Wilson, Richard K.;
    • Weinstock, George M.;
    • Warren, Wesley C.
    Publication type:
    Article

  • Development and verification of the PAM50-based Prosigna breast cancer gene signature assay.

    Published in:
    BMC Medical Genomics, 2015, v. 8, n. 1, p. 1, doi. 10.1186/s12920-015-0129-6
    By:
    • Wallden, Brett;
    • Storhoff, James;
    • Nielsen, Torsten;
    • Dowidar, Naeem;
    • Schaper, Carl;
    • Ferree, Sean;
    • Shuzhen Liu;
    • Leung, Samuel;
    • Geiss, Gary;
    • Snider, Jacqueline;
    • Vickery, Tammi;
    • Davies, Sherri R.;
    • Mardis, Elaine R.;
    • Gnant, Michael;
    • Sestak, Ivana;
    • Ellis, Matthew J.;
    • Perou, Charles M.;
    • Bernard, Philip S.;
    • Parker, Joel S.
    Publication type:
    Article

  • Manufacture and Characterization of Good Manufacturing Practice-Compliant SARS-COV-2 Cytotoxic T Lymphocytes.

    Published in:
    Journal of Infectious Diseases, 2023, v. 227, n. 6, p. 788, doi. 10.1093/infdis/jiac500
    By:
    • Chu, Yaya;
    • Milner, Jordan;
    • Lamb, Margaret;
    • Maryamchik, Elena;
    • Rigot, Olivia;
    • Ayello, Janet;
    • Harrison, Lauren;
    • Shaw, Rosemarie;
    • Behbehani, Gregory K;
    • Mardis, Elaine R;
    • Miller, Katherine;
    • Venkata, Lakshmi Prakruthi Rao;
    • Chang, Hsiaochi;
    • Lee, Dean;
    • Rosenthal, Elana;
    • Kadauke, Stephan;
    • Bunin, Nancy;
    • Talano, Julie-An;
    • Johnson, Bryon;
    • Wang, Yongping
    Publication type:
    Article

  • An obesity-associated gut microbiome with increased capacity for energy harvest.

    Published in:
    Nature, 2006, v. 444, n. 7122, p. 1027, doi. 10.1038/nature05414
    By:
    • Turnbaugh, Peter J.;
    • Ley, Ruth E.;
    • Mahowald, Michael A.;
    • Magrini, Vincent;
    • Mardis, Elaine R.;
    • Gordon, Jeffrey I.
    Publication type:
    Article

  • Corrigendum: Myelomodulatory treatments augment the therapeutic benefit of oncolytic viroimmunotherapy in murine models of malignant peripheral nerve sheath tumors.

    Published in:
    Frontiers in Immunology, 2024, p. 01, doi. 10.3389/fimmu.2024.1456897
    By:
    • Paudel, Siddhi N.;
    • Hutzen, Brian J.;
    • Miller, Katherine E.;
    • Garfinkle, Elizabeth A. R.;
    • Chun-Yu Chen;
    • Pin-Yi Wang;
    • Glaspell, Andrea M.;
    • Currier, Mark A.;
    • Ringwalt, Emily M.;
    • Boon, Louis;
    • Mardis, Elaine R.;
    • Cairo, Mitchell S.;
    • Ratner, Nancy;
    • Dodd, Rebecca D.;
    • Cassady, Kevin A.;
    • Cripe, Timothy P.
    Publication type:
    Article

  • Myelomodulatory treatments augment the therapeutic benefit of oncolytic viroimmunotherapy in murine models of malignant peripheral nerve sheath tumors.

    Published in:
    Frontiers in Immunology, 2024, p. 01, doi. 10.3389/fimmu.2024.1384623
    By:
    • Paudel, Siddhi N.;
    • Hutzen, Brian J.;
    • Miller, Katherine E.;
    • Garfinkle, Elizabeth A. R.;
    • Chun-Yu Chen;
    • Pin-Yi Wang;
    • Glaspell, Andrea M.;
    • Currier, Mark A.;
    • Ringwalt, Emily M.;
    • Boon, Louis;
    • Mardis, Elaine R.;
    • Cairo, Mitchell S.;
    • Ratner, Nancy;
    • Dodd, Rebecca D.;
    • Cassady, Kevin A.;
    • Cripe, Timothy P.
    Publication type:
    Article

  • Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review.

    Published in:
    Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2023.1298574
    By:
    • Gurusamy, Umamaheswaran;
    • Ramadesikan, Swetha;
    • Marhabaie, Mohammad;
    • Colwell, Caitlyn M.;
    • Hunter, Jesse M.;
    • Leung, Marco L.;
    • Mardis, Elaine R.;
    • White, Peter;
    • Manickam, Murugu;
    • Wilson, Richard K.;
    • Koboldt, Daniel C.
    Publication type:
    Article

  • Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 19, p. 5283, doi. 10.1093/hmg/ddu226
    By:
    • Yu, Yi;
    • Triebwasser, Michael P.;
    • Wong, Edwin K. S.;
    • Schramm, Elizabeth C.;
    • Thomas, Brett;
    • Reynolds, Robyn;
    • Mardis, Elaine R.;
    • Atkinson, John P.;
    • Daly, Mark;
    • Raychaudhuri, Soumya;
    • Kavanagh, David;
    • Seddon, Johanna M.
    Publication type:
    Article

  • Analysis of next-generation genomic data in cancer: accomplishments and challenges.

    Published in:
    Human Molecular Genetics, 2010, v. 19, n. R2, p. R188, doi. 10.1093/hmg/ddq391
    By:
    • Ding, Li;
    • Wendl, Michael C.;
    • Koboldt, Daniel C.;
    • Mardis, Elaine R.
    Publication type:
    Article

  • Cancer genome sequencing: a review.

    Published in:
    Human Molecular Genetics, 2009, v. 18, n. R2, p. R163, doi. 10.1093/hmg/ddp396
    By:
    • Mardis, Elaine R.;
    • Wilson, Richard K.
    Publication type:
    Article

  • DGIdb 5.0: rebuilding the drug–gene interaction database for precision medicine and drug discovery platforms.

    Published in:
    Nucleic Acids Research, 2024, v. 52, n. D1, p. D1227, doi. 10.1093/nar/gkad1040
    By:
    • Cannon, Matthew;
    • Stevenson, James;
    • Stahl, Kathryn;
    • Basu, Rohit;
    • Coffman, Adam;
    • Kiwala, Susanna;
    • McMichael, Joshua F;
    • Kuzma, Kori;
    • Morrissey, Dorian;
    • Cotto, Kelsy;
    • Mardis, Elaine R;
    • Griffith, Obi L;
    • Griffith, Malachi;
    • Wagner, Alex H
    Publication type:
    Article

  • Impact of mutational profiles on response of primary oestrogen receptor-positive breast cancers to oestrogen deprivation.

    Published in:
    Nature Communications, 2016, v. 7, n. 11, p. 13294, doi. 10.1038/ncomms13294
    By:
    • Gellert, Pascal;
    • Segal, Corrinne V.;
    • Gao, Qiong;
    • López-Knowles, Elena;
    • Martin, Lesley-Ann;
    • Dodson, Andrew;
    • Li, Tiandao;
    • Miller, Christopher A.;
    • Lu, Charles;
    • Mardis, Elaine R.;
    • Gillman, Alexa;
    • Morden, James;
    • Graf, Manuela;
    • Sidhu, Kally;
    • Evans, Abigail;
    • Shere, Michael;
    • Holcombe, Christopher;
    • McIntosh, Stuart A.;
    • Bundred, Nigel;
    • Skene, Anthony
    Publication type:
    Article

  • Aromatase inhibition remodels the clonal architecture of estrogen-receptor-positive breast cancers.

    Published in:
    Nature Communications, 2016, v. 7, n. 8, p. 12498, doi. 10.1038/ncomms12498
    By:
    • Miller, Christopher A.;
    • Gindin, Yevgeniy;
    • Lu, Charles;
    • Griffith, Obi L;
    • Griffith, Malachi;
    • Shen, Dong;
    • Hoog, Jeremy;
    • Li, Tiandao;
    • Larson, David E.;
    • Watson, Mark;
    • Davies, Sherri R;
    • Hunt, Kelly;
    • Suman, Vera J.;
    • Snider, Jacqueline;
    • Walsh, Thomas;
    • Colditz, Graham A.;
    • DeSchryver, Katherine;
    • Wilson, Richard K.;
    • Mardis, Elaine R.;
    • Ellis, Matthew J.
    Publication type:
    Article

  • Genomic landscape of paediatric adrenocortical tumours.

    Published in:
    Nature Communications, 2015, v. 6, n. 3, p. 6302, doi. 10.1038/ncomms7302
    By:
    • Pinto, Emilia M.;
    • Chen, Xiang;
    • Easton, John;
    • Finkelstein, David;
    • Liu, Zhifa;
    • Pounds, Stanley;
    • Rodriguez-Galindo, Carlos;
    • Lund, Troy C.;
    • Mardis, Elaine R.;
    • Wilson, Richard K.;
    • Boggs, Kristy;
    • Yergeau, Donald;
    • Cheng, Jinjun;
    • Mulder, Heather L.;
    • Manne, Jayanthi;
    • Jenkins, Jesse;
    • Mastellaro, Maria J.;
    • Figueiredo, Bonald C.;
    • Dyer, Michael A.;
    • Pappo, Alberto
    Publication type:
    Article

  • Integrated analysis of germline and somatic variants in ovarian cancer.

    Published in:
    Nature Communications, 2014, v. 5, n. 1, p. 3156, doi. 10.1038/ncomms4156
    By:
    • Kanchi, Krishna L.;
    • Johnson, Kimberly J.;
    • Lu, Charles;
    • McLellan, Michael D.;
    • Leiserson, Mark D. M.;
    • Wendl, Michael C.;
    • Zhang, Qunyuan;
    • Koboldt, Daniel C.;
    • Xie, Mingchao;
    • Kandoth, Cyriac;
    • McMichael, Joshua F.;
    • Wyczalkowski, Matthew A.;
    • Larson, David E.;
    • Schmidt, Heather K.;
    • Miller, Christopher A.;
    • Fulton, Robert S.;
    • Spellman, Paul T.;
    • Mardis, Elaine R.;
    • Druley, Todd E.;
    • Graubert, Timothy A.
    Publication type:
    Article

  • Association of Age at Diagnosis and Genetic Mutations in Patients With Neuroblastoma.

    Published in:
    JAMA: Journal of the American Medical Association, 2012, v. 307, n. 10, p. 1062, doi. 10.1001/jama.2012.228
    By:
    • Cheung, Nai-Kong V.;
    • Jinghui Zhang;
    • Lu, Charles;
    • Parker, Matthew;
    • Bahrami, Armita;
    • Tickoo, Satish K.;
    • Heguy, Adriana;
    • Pappo, Alberto S.;
    • Federico, Sara;
    • Dalton, James;
    • Cheung, Irene Y.;
    • Li Ding;
    • Fulton, Bobert;
    • Jianmin Wang;
    • Xiang Chen;
    • Becksfort, Jared;
    • Jianrong Wu;
    • Billups, Catherine A.;
    • Ellison, David;
    • Mardis, Elaine R.
    Publication type:
    Article

  • Use of Whole-Genome Sequencing to Diagnose a Cryptic Fusion Oncogene.

    Published in:
    2011
    By:
    • Welch, John S.;
    • Westervelt, Peter;
    • Li Ding;
    • Larson, David E.;
    • Klco, Jeffery M.;
    • Kulkarni, Shashikant;
    • Wallis, John;
    • Chen, Ken;
    • Payton, Jacqueline E.;
    • Fulton, Robert S.;
    • Veizer, Joelle;
    • Schmidt, Heather;
    • Vickery, Tammi L.;
    • Heath, Sharon;
    • Watson, Mark A.;
    • Tomasson, Michael H.;
    • Link, Daniel C.;
    • Graubert, Timothy A.;
    • DiPersio, John F.;
    • Mardis, Elaine R.
    Publication type:
    Case Study

  • Neoantigens and genome instability: impact on immunogenomic phenotypes and immunotherapy response.

    Published in:
    Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0684-0
    By:
    • Mardis, Elaine R.
    Publication type:
    Article

  • The Oxytricha trifallax Mitochondrial Genome.

    Published in:
    Genome Biology & Evolution, 2012, v. 4, n. 9, p. 136, doi. 10.1093/gbe/evr136
    By:
    • Swart, Estienne C.;
    • Nowacki, Mariusz;
    • Shum, Justine;
    • Stiles, Heather;
    • Higgins, Brian P.;
    • Doak, Thomas G.;
    • Schotanus, Klaas;
    • Magrini, Vincent J.;
    • Minx, Patrick;
    • Mardis, Elaine R.;
    • Landweber, Laura F.
    Publication type:
    Article

  • The Oxytricha trifallax Mitochondrial Genome.

    Published in:
    Genome Biology & Evolution, 2012, v. 4, n. 2, p. 136, doi. 10.1093/gbe/evr136
    By:
    • Swart, Estienne C.;
    • Nowacki, Mariusz;
    • Shum, Justine;
    • Stiles, Heather;
    • Higgins, Brian P.;
    • Doak, Thomas G.;
    • Schotanus, Klaas;
    • Magrini, Vincent J.;
    • Minx, Patrick;
    • Mardis, Elaine R.;
    • Landweber, Laura F.
    Publication type:
    Article

  • Contribution of Genetically Restricted, Methicillin-Susceptible Strains to the Ongoing Epidemic of Community-Acquired Staphylococcus aureus Infections.

    Published in:
    Clinical Infectious Diseases, 2009, v. 49, n. 4, p. 536, doi. 10.1086/600881
    By:
    • Orscheln, Rachel C.;
    • Hunstad, David A.;
    • Fritz, Stephanie A.;
    • Loughman, Jennifer A.;
    • Mitchell, Kimberly;
    • Storch, Emily K.;
    • Gaudreault, Monique;
    • Sellenriek, Patricia L.;
    • Armstrong, Jon R.;
    • Mardis, Elaine R.;
    • Storch, Gregory A.
    Publication type:
    Article

  • PTEN somatic mutations contribute to spectrum of cerebral overgrowth.

    Published in:
    2021
    By:
    • Koboldt, Daniel C;
    • Miller, Katherine E;
    • Miller, Anthony R;
    • Bush, Jocelyn M;
    • McGrath, Sean;
    • Leraas, Kristen;
    • Crist, Erin;
    • Fair, Summer;
    • Schwind, Wesley;
    • Wijeratne, Saranga;
    • Fitch, James;
    • Leonard, Jeffrey;
    • Shaikhouni, Ammar;
    • Hester, Mark E;
    • Magrini, Vincent;
    • Ho, Mai-Lan;
    • Pierson, Christopher R;
    • Wilson, Richard K;
    • Ostendorf, Adam P;
    • Mardis, Elaine R
    Publication type:
    journal article

  • The value of avian genomics to the conservation of wildlife.

    Published in:
    BMC Genomics, 2009, v. 10, p. 1, doi. 10.1186/1471-2164-10-S2-S10
    By:
    • Romanov, Michael N.;
    • Tuttle, Elaina M.;
    • Houck, Marlys L.;
    • Modi, William S.;
    • Chemnick, Leona G.;
    • Korody, Marisa L.;
    • Stremel Mork, Emily M.;
    • Otten, Christie A.;
    • Renner, Tanya;
    • Jones, Kenneth C.;
    • Dandekar, Sugandha;
    • Papp, Jeanette C.;
    • Yang Da;
    • Green, Eric D.;
    • Magrini, Vincent;
    • Hickenbotham, Matthew T.;
    • Glasscock, Jarret;
    • McGrath, Sean;
    • Mardis, Elaine R.;
    • Ryder, Oliver A.
    Publication type:
    Article

  • Analysis of the prostate cancer cell line LNCaP transcriptome using a sequencing-by-synthesis approach.

    Published in:
    BMC Genomics, 2006, v. 7, p. 246, doi. 10.1186/1471-2164-7-246
    By:
    • Bainbridge, Matthew N;
    • Warren, Rene L;
    • Hirst, Martin;
    • Romanuik, Tammy;
    • Zeng, Thomas;
    • Go, Anne;
    • Delaney, Allen;
    • Griffith, Malachi;
    • Hickenbotham, Matthew;
    • Magrini, Vincent;
    • Mardis, Elaine R;
    • Sadar, Marianne D;
    • Siddiqui, Asim S;
    • Marra, Marco A;
    • Jones, Steven JM
    Publication type:
    Article

  • An integrated map of genetic variation from 1,092 human genomes.

    Published in:
    Nature, 2012, v. 491, n. 7422, p. 56, doi. 10.1038/nature11632
    By:
    • McVean, Gil A.;
    • Altshuler (Co-Chair), David M.;
    • Durbin (Co-Chair), Richard M.;
    • Abecasis, Gonçalo R.;
    • Bentley, David R.;
    • Chakravarti, Aravinda;
    • Clark, Andrew G.;
    • Donnelly, Peter;
    • Eichler, Evan E.;
    • Flicek, Paul;
    • Gabriel, Stacey B.;
    • Gibbs, Richard A.;
    • Green, Eric D.;
    • Hurles, Matthew E.;
    • Knoppers, Bartha M.;
    • Korbel, Jan O.;
    • Lander, Eric S.;
    • Lee, Charles;
    • Lehrach, Hans;
    • Mardis, Elaine R.
    Publication type:
    Article

  • Comprehensive molecular portraits of human breast tumours.

    Published in:
    Nature, 2012, v. 490, n. 7418, p. 61, doi. 10.1038/nature11412
    By:
    • Koboldt, Daniel C.;
    • Fulton, Robert S.;
    • McLellan, Michael D.;
    • Schmidt, Heather;
    • Kalicki-Veizer, Joelle;
    • McMichael, Joshua F.;
    • Fulton, Lucinda L.;
    • Dooling, David J.;
    • Ding, Li;
    • Mardis, Elaine R.;
    • Wilson, Richard K.;
    • Ally, Adrian;
    • Balasundaram, Miruna;
    • Butterfield, Yaron S. N.;
    • Carlsen, Rebecca;
    • Carter, Candace;
    • Chu, Andy;
    • Chuah, Eric;
    • Chun, Hye-Jung E.;
    • Coope, Robin J. N.
    Publication type:
    Article

  • Cancer exome analysis reveals a T-cell-dependent mechanism of cancer immunoediting.

    Published in:
    Nature, 2012, v. 482, n. 7385, p. 400, doi. 10.1038/nature10755
    By:
    • Matsushita, Hirokazu;
    • Vesely, Matthew D.;
    • Koboldt, Daniel C.;
    • Rickert, Charles G.;
    • Uppaluri, Ravindra;
    • Magrini, Vincent J.;
    • Arthur, Cora D.;
    • White, J. Michael;
    • Chen, Yee-Shiuan;
    • Shea, Lauren K.;
    • Hundal, Jasreet;
    • Wendl, Michael C.;
    • Demeter, Ryan;
    • Wylie, Todd;
    • Allison, James P.;
    • Smyth, Mark J.;
    • Old, Lloyd J.;
    • Mardis, Elaine R.;
    • Schreiber, Robert D.
    Publication type:
    Article

  • A decade's perspective on DNA sequencing technology.

    Published in:
    2011
    By:
    • Mardis, Elaine R.
    Publication type:
    Opinion

  • Convergent evolution of chicken Z and human X chromosomes by expansion and gene acquisition.

    Published in:
    Nature, 2010, v. 466, n. 7306, p. 612, doi. 10.1038/nature09172
    By:
    • Bellott, Daniel W.;
    • Skaletsky, Helen;
    • Pyntikova, Tatyana;
    • Mardis, Elaine R.;
    • Graves, Tina;
    • Kremitzki, Colin;
    • Brown, Laura G.;
    • Rozen, Steve;
    • Warren, Wesley C.;
    • Wilson, Richard K.;
    • Page, David C.
    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

  • A burst of segmental duplications in the genome of the African great ape ancestor.

    Published in:
    Nature, 2009, v. 457, n. 7231, p. 877, doi. 10.1038/nature07744
    By:
    • Marques-Bonet, Tomas;
    • Kidd, Jeffrey M.;
    • Ventura, Mario;
    • Graves, Tina A.;
    • Cheng, Ze;
    • Hillier, LaDeana W.;
    • Jiang, Zhaoshi;
    • Baker, Carl;
    • Malfavon-Borja, Ray;
    • Fulton, Lucinda A.;
    • Alkan, Can;
    • Aksay, Gozde;
    • Girirajan, Santhosh;
    • Siswara, Priscillia;
    • Chen, Lin;
    • Cardone, Maria Francesca;
    • Navarro, Arcadi;
    • Mardis, Elaine R.;
    • Wilson, Richard K.;
    • Eichler, Evan E.
    Publication type:
    Article

  • DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.

    Published in:
    Nature, 2008, v. 456, n. 7218, p. 66, doi. 10.1038/nature07485
    By:
    • Ley, Timothy J.;
    • Mardis, Elaine R.;
    • Ding, Li;
    • Fulton, Bob;
    • McLellan, Michael D.;
    • Chen, Ken;
    • Dooling, David;
    • Dunford-Shore, Brian H.;
    • McGrath, Sean;
    • Hickenbotham, Matthew;
    • Cook, Lisa;
    • Abbott, Rachel;
    • Larson, David E.;
    • Koboldt, Dan C.;
    • Pohl, Craig;
    • Smith, Scott;
    • Hawkins, Amy;
    • Abbott, Scott;
    • Locke, Devin;
    • Hillier, LaDeana W.
    Publication type:
    Article

  • Somatic mutations affect key pathways in lung adenocarcinoma.

    Published in:
    Nature, 2008, v. 455, n. 7216, p. 1069, doi. 10.1038/nature07423
    By:
    • Li Ding;
    • Getz, Gad;
    • Wheeler, David A.;
    • Mardis, Elaine R.;
    • McLellan, Michael D.;
    • Cibulskis, Kristian;
    • Sougnez, Carrie;
    • Greulich, Heidi;
    • Muzny, Donna M.;
    • Morgan, Margaret B.;
    • Fulton, Lucinda;
    • Fulton, Robert S.;
    • Qunyuan Zhang;
    • Wendl, Michael C.;
    • Lawrence, Michael S.;
    • Larson, David E.;
    • Chen, Ken;
    • Dooling, David J.;
    • Sabo, Aniko;
    • Hawes, Alicia C.
    Publication type:
    Article

  • Clinically aggressive pediatric spinal ependymoma with novel MYC amplification demonstrates molecular and histopathologic similarity to newly described MYCN-amplified spinal ependymomas.

    Published in:
    Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01296-2
    By:
    • Shatara, Margaret;
    • Schieffer, Kathleen M.;
    • Klawinski, Darren;
    • Thomas, Diana L.;
    • Pierson, Christopher R.;
    • Sribnick, Eric A.;
    • Jones, Jeremy;
    • Rodriguez, Diana P.;
    • Deeg, Carol;
    • Hamelberg, Elizabeth;
    • LaHaye, Stephanie;
    • Miller, Katherine E.;
    • Fitch, James;
    • Kelly, Benjamin;
    • Leraas, Kristen;
    • Pfau, Ruthann;
    • White, Peter;
    • Magrini, Vincent;
    • Wilson, Richard K.;
    • Mardis, Elaine R.
    Publication type:
    Article

  • Caenorhabditis elegans glp-4 Encodes a Valyl Aminoacyl tRNA Synthetase.

    Published in:
    G3: Genes | Genomes | Genetics, 2015, v. 5, n. 12, p. 2719, doi. 10.1534/g3.115.021899
    By:
    • Rastogi, Suchita;
    • Borgo, Ben;
    • Pazdernik, Nanette;
    • Fox, Paul;
    • Mardis, Elaine R.;
    • Kohara, Yuji;
    • Havranek, Jim;
    • Schedl, Tim
    Publication type:
    Article

  • The landscape of somatic mutations in infant MLL-rearranged acute lymphoblastic leukemias.

    Published in:
    Nature Genetics, 2015, v. 47, n. 4, p. 330, doi. 10.1038/ng.3230
    By:
    • Andersson, Anna K;
    • Fioretos, Thoas;
    • Lu, Charles;
    • Ding, Li;
    • Mardis, Elaine R;
    • Wilson, Richard K;
    • Pui, Ching-Hon;
    • Gruber, Tanja A;
    • Ma, Jing;
    • Gedman, Amanda Larson;
    • Dang, Jinjun;
    • Nakitandwe, Joy;
    • Holmfeldt, Linda;
    • Raimondi, Susana;
    • Payne-Turner, Debbie;
    • Song, Guangchun;
    • Shurtleff, Sheila;
    • Mullighan, Charles G;
    • Downing, James R;
    • Wang, Jianmin
    Publication type:
    Article

  • Ancestry estimation and control of population stratification for sequence-based association studies.

    Published in:
    Nature Genetics, 2014, v. 46, n. 4, p. 409, doi. 10.1038/ng.2924
    By:
    • Wang, Chaolong;
    • Zhan, Xiaowei;
    • Bragg-Gresham, Jennifer;
    • Kang, Hyun Min;
    • Stambolian, Dwight;
    • Chew, Emily Y;
    • Branham, Kari E;
    • Heckenlively, John;
    • Fulton, Robert;
    • Wilson, Richard K;
    • Mardis, Elaine R;
    • Lin, Xihong;
    • Swaroop, Anand;
    • Zöllner, Sebastian;
    • Abecasis, Gonçalo R
    Publication type:
    Article

  • Erratum: The Pediatric Cancer Genome Project.

    Published in:
    2012
    By:
    • Downing, James R;
    • Wilson, Richard K;
    • Zhang, Jinghui;
    • Mardis, Elaine R;
    • Pui, Ching-Hon;
    • Ding, Li;
    • Ley, Timothy J;
    • Evans, William E
    Publication type:
    Erratum