Search Results

Suggested Topics within your search.
Refine Results
  1. 1
    Robust gene expression and mutation analyses of RNA-sequencing of formalin-fixed diagnostic tumor samples

    Robust gene expression and mutation analyses of RNA-sequencing of formalin-fixed diagnostic tumor samples by Stefan Graw, Richard Meier, Kay Minn, Clark Bloomer, Andrew K. Godwin, Brooke L. Fridley, Anda Vlad, Peter Beyerlein, Jeremy Chien

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  2. 2
    The Presence of ASXL1 Mutations As Well As a Total Number of Myeloid Driver Mutations Higher Than Two Is Strongly Associated with the Diagnosis of Primary Myelofibrosis As Opposed to Essential Thrombocythemia

    The Presence of ASXL1 Mutations As Well As a Total Number of Myeloid Driver Mutations Higher Than Two Is Strongly Associated with the Diagnosis of Primary Myelofibrosis As Opposed... by Paulo Vidal Campregher, Ricardo Helman, Welbert Oliveira Pereira, Renato Puga, Bianca Cristina Garcia Lisbôa, Evelyn Helena Ascendino, Mariana Yasue Saito Miyagi, Sandra Nakashima Yoshida, Isabel Bello, Michelli Silva Diniz, Guilherme Fleury Perini, Tarcila Santos Datoguia, Elvira Deolinda Rodrigues Pereira Velloso, Joao Carlos Guerra, Paulo Augusto Achucarro Silveira, Nydia Strachman Bacal, Roberta Cardoso Petroni, Juliane Musacchio, Rodrigo Santucci, Ana Fernandes Schriefer, Marco Aurélio Salvino, Rodolfo Daniel de Almeida Soares, Manuela Pinto Tibúrcio, Leila Martins Perobelli, Eizabeth Xisto Souto, Danielle Leão Cordeiro de Farias, Marcia Higashi, Adriana Valente Fadel, Carolina Kassab, Leandro Padua, Patricia W Bollman, Denise da Cunha Pasqualin, Alanna Mara Pinheiro Sobreira Bezerra, Marinus de Moraes Lima, Erika MM Costa, Vinicius R. P. Mattos, Fernando Ferreira Costa, Nelson Hamerschlak, Fábio Pires de Souza Santos

    Published 2014
    Get full text
    Artigo
    Save to List
    Saved in:
  3. 3
    Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies

    Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies by Avigail Beryozkin, Elia Shevah, Adva Kimchi, Liliana Mizrahi‐Meissonnier, Samer Khateb, Rinki Ratnapriya, Csilla H. Lazar, Anat Blumenfeld, Tamar Ben‐Yosef, Yitzhak Hemo, Jacob Pe’er, Eduard Averbuch, Michal Sagi, Alexis Boleda, Linn Gieser, Abraham Zlotogorski, Tzipora C. Falik‐Zaccai, Ola Alimi-Kasem, Samuel G. Jacobson, Itay Chowers, Anand Swaroop, Eyal Banin, Dror Sharon

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  4. 4
    MSIseq: Software for Assessing Microsatellite Instability from Catalogs of Somatic Mutations

    MSIseq: Software for Assessing Microsatellite Instability from Catalogs of Somatic Mutations by Mi Ni Huang, John R. McPherson, Ioana Cutcutache, Bin Tean Teh, Patrick Tan, Steve Rozen

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  5. 5
    Clinical Tumor Sequencing: Opportunities and Challenges for Precision Cancer Medicine

    Clinical Tumor Sequencing: Opportunities and Challenges for Precision Cancer Medicine by Senthilkumar Damodaran, Michael F. Berger, Sukla Roychowdhury

    Published 2015
    Get full text
    Revisão
    Save to List
    Saved in:
  6. 6
    Personalized therapy for breast cancer

    Personalized therapy for breast cancer by Francine B. de Abreu, Gary N. Schwartz, Wendy A. Wells, Gregory J. Tsongalis

    Published 2014
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  7. 7
    STAG3 truncating variant as the cause of primary ovarian insufficiency

    STAG3 truncating variant as the cause of primary ovarian insufficiency by Polona Le Quesne Stabej, Hywel Williams, Chela James, Mehmet Tekman, Horia Stanescu, Robert Kleta, Louise Ocaka, Francesco Lescai, Helen L. Storr, Maria Bitner‐Glindzicz, Chiara Bacchelli, Gerard S. Conway

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  8. 8
    Loss-of-function variants in HIVEP2 are a cause of intellectual disability

    Loss-of-function variants in HIVEP2 are a cause of intellectual disability by Siddharth Srivastava, Hartmut Engels, Ina Schanze, Kirsten Cremer, Thomas Wieland, Moritz Menzel, Max Schubach, Saskia Biskup, Martina Kreiß, Sabine Endele, Tim M. Strom, Dagmar Wieczorek, Martin Zenker, Siddharth Gupta, Julie S. Cohen, Alexander M. Zink, Sakkubai Naidu

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  9. 9
    <i>WDR73</i>Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

    <i>WDR73</i>Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease by Julia Vodopiutz, Rainer Seidl, Daniela Prayer, Muhammad Imran Khan, Johannes A. Mayr, Berthold Streubel, Jens-Oliver Steiß, Andreas Hahn, Dagmar Csaicsich, Christel Castro, Mirna Assoum, Thomas Müller, Dagmar Wieczorek, Grazia M.S. Mancini, Carolin E. Sadowski, Nicolas Lévy, André Mégarbané, Koumudi Godbole, Denny Schanze, Friedhelm Hildebrandt, Valérie Delague, Andreas Janecke, Martin Zenker

    Published 2015
    Get full text
    Artigo
    Save to List
    Saved in:
  10. 10
    Defects in Nicotinamide-adenine Dinucleotide Phosphate Oxidase Genes NOX1 and DUOX2 in Very Early Onset Inflammatory Bowel Disease

    Defects in Nicotinamide-adenine Dinucleotide Phosphate Oxidase Genes NOX1 and DUOX2 in Very Early Onset Inflammatory Bowel Disease by Patti Hayes, Sandeep Dhillon, Kim O’Neill, Cornelia Thoeni, Ken Y. Hui, Abdul Elkadri, Conghui Guo, Lidija Kovačič, Gabriella Aviello, Luis Álvarez, Anne M. Griffiths, Scott B. Snapper, Steven R. Brant, James H. Doroshow, Mark S. Silverberg, Inga Peter, Dermot McGovern, Judy H. Cho, John H. Brumell, Holm H. Uhlig, Billy Bourke, Aleixo A Muise, Ulla G. Knaus

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  11. 11
    Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center’s Experience

    Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center’s Experience by C. Alexander Valencia, Ammar Husami, Jennifer Holle, Judith A. Johnson, Yaping Qian, Abhinav Mathur, Chao Wei, Subba Rao Indugula, Fanggeng Zou, Haiying Meng, Lijun Wang, Xia Li, Rachel S. Fisher, Tony Tan, Amber Begtrup, Kathleen Collins, Katie Wusik, Derek Neilson, Thomas Andrew Burrow, Elizabeth K. Schorry, Robert J. Hopkin, Mehdi Keddache, John B. Harley, Kenneth M. Kaufman, Kejian Zhang

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  12. 12
    Genetics of cleft lip and cleft palate

    Genetics of cleft lip and cleft palate by Elizabeth J. Leslie, Mary L. Marazita

    Published 2013
    Get full text
    Revisão
    Save to List
    Saved in:
  13. 13
    Mutations in human IFT140 cause non-syndromic retinal degeneration

    Mutations in human IFT140 cause non-syndromic retinal degeneration by Mingchu Xu, Lizhu Yang, Feng Wang, Huajin Li, Xia Wang, Weichen Wang, Zhongqi Ge, Keqing Wang, Li Zhao, Hui Li, Yumei Li, Ruifang Sui, Rui Chen

    Published 2015
    Get full text
    Artigo
    Save to List
    Saved in:
  14. 14
    Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families

    Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families by Hanan E. Shamseldin, Maha Tulbah, Wesam Kurdi, Maha Nemer, Nada Alsahan, Elham Al Mardawi, Ola Khalifa, Amal Hashem, Ahmed M Kurdi, Zainab Babay, Dalal Bubshait, Niema Ibrahim, Firdous Abdulwahab, Zuhair Rahbeeni, Mais Hashem, Fowzan S. Alkuraya

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  15. 15
    Mutations in gamma adducin are associated with inherited cerebral palsy

    Mutations in gamma adducin are associated with inherited cerebral palsy by Michael C. Kruer, Tyler Jepperson, Sudeshna Dutta, Robert D. Steiner, Ellen Cottenie, Lynn Sanford, Mark Merkens, Barry S. Russman, Peter A. Blasco, Guang Fan, Jeffrey M. Pollock, Sarah Green, Randall L. Woltjer, Catherine Mooney, Doris Kretzschmar, Coro Paisán‐Ruiz, Henry Houlden

    Published 2013
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  16. 16
    Brief Report: Cryopyrin‐Associated Periodic Syndrome Caused by a Myeloid‐Restricted Somatic <i>NLRP3</i> Mutation

    Brief Report: Cryopyrin‐Associated Periodic Syndrome Caused by a Myeloid‐Restricted Somatic <i>NLRP3</i> Mutation by Qing Zhou, Ivona Aksentijevich, Geryl Wood, Avram Walts, Patrycja Hoffmann, Elaine F. Remmers, Daniel L. Kastner, Amanda K. Ombrello

    Published 2015
    Get full text
    Artigo
    Save to List
    Saved in:
  17. 17
    Leveraging the Power of High Performance Computing for Next Generation Sequencing Data Analysis: Tricks and Twists from a High Throughput Exome Workflow

    Leveraging the Power of High Performance Computing for Next Generation Sequencing Data Analysis: Tricks and Twists from a High Throughput Exome Workflow by Amit Kawalia, Susanne Motameny, Stephan Wonczak, Hölger Thiele, Lech Nieroda, Kamel Jabbari, Stefan Borowski, Vishal Sinha, Wilfried Gunia, Ulrich Lang, Viktor Achter, Peter Nürnberg

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  18. 18
    Identification of driver genes in hepatocellular carcinoma by exome sequencing

    Identification of driver genes in hepatocellular carcinoma by exome sequencing by Sean P. Cleary, William R. Jeck, Xiaobei Zhao, Kui Chen, Sara R. Selitsky, Gleb L. Savich, Ting Xu Tan, Michael C. Wu, Gad Getz, Michael S. Lawrence, Joel S. Parker, Jinyu Li, Scott Powers, Hyeja Kim, Sandra E. Fischer, Maha Guindi, Anand Ghanekar, Derek Y. Chiang

    Published 2013
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  19. 19
    Mutational profiles in triple-negative breast cancer defined by ultradeep multigene sequencing show high rates of PI3K pathway alterations and clinically relevant entity subgroup specific differences

    Mutational profiles in triple-negative breast cancer defined by ultradeep multigene sequencing show high rates of PI3K pathway alterations and clinically relevant entity subgroup s... by Mark Kriegsmann, Volker Endris, Thomas Wolf, Nicole Pfarr, Albrecht Stenzinger, Sibylle Loibl, Carsten Denkert, Andreas Schneeweiß, Jan Budczies, Hans‐Peter Sinn, Wilko Weichert

    Published 2014
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  20. 20
    Mendel,MD: a user-friendly online program for clinical exome analysis

    Mendel,MD: a user-friendly online program for clinical exome analysis by Raony Guimarães Corrêa Do Carmo Lis Cardenas, Natália D. Linhares, Sérgio D.J. Pena

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:

Search Tools: