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  1. 1
    Validation of Next-Generation Sequencing of Entire Mitochondrial Genomes and the Diversity of Mitochondrial DNA Mutations in Oral Squamous Cell Carcinoma

    Validation of Next-Generation Sequencing of Entire Mitochondrial Genomes and the Diversity of Mitochondrial DNA Mutations in Oral Squamous Cell Carcinoma by Anita Kloss‐Brandstätter, Hansi Weißensteiner, Gertraud Erhart, Georg Schäfer, Lukas Forer, Sebastian Schönherr, Dominic Pacher, Christof Seifarth, Andrea Stöckl, Liane Fendt, Irma Sottsas, Helmut Klocker, Christian W. Huck, Michael Rasse, Florian Kronenberg, Frank Kloss

    Published 2015
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  2. 2
    Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory

    Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory by Charles M. Strom, Steven Rivera, Christopher Elzinga, Taraneh Angeloni, Sun Hee Rosenthal, Dana M. Goos-Root, Martin Siaw, Jamie L. Platt, Cory Braastadt, Linda Cheng, David A. Ross, Weimin Sun

    Published 2015
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  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
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  4. 4
    Improving the Limit of Detection for Sanger Sequencing: A Comparison of Methodologies for <i>KRAS</i> Variant Detection

    Improving the Limit of Detection for Sanger Sequencing: A Comparison of Methodologies for <i>KRAS</i> Variant Detection by C. Davidson, Emily Zeringer, Kristen J. Champion, Marie‐Pierre L. Gauthier, Fawn Wang, Jerry Boonyaratanakornkit, Julie R. Jones, Edgar Schreiber

    Published 2012
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  5. 5
    <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
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  6. 6
    Diagnostic Testing for IDH1 and IDH2 Variants in Acute Myeloid Leukemia

    Diagnostic Testing for IDH1 and IDH2 Variants in Acute Myeloid Leukemia by Keyur P. Patel, Bedia A. Barkoh, Chen Zhao, Deqin Ma, Neelima Reddy, L. Jeffrey Medeiros, Rajyalakshmi Luthra

    Published 2011
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  7. 7
    Pleuropulmonary blastoma: A report on 350 central pathology–confirmed pleuropulmonary blastoma cases by the <scp>I</scp>nternational <scp>P</scp>leuropulmonary <scp>B</scp>lastoma <scp>R</scp>egistry

    Pleuropulmonary blastoma: A report on 350 central pathology–confirmed pleuropulmonary blastoma cases by the <scp>I</scp>nternational <scp>P</scp>leuropulmonary <scp>B</scp>lastoma... by Yoav H. Messinger, Douglas R. Stewart, John R. Priest, Gretchen M. Williams, Anne K. Harris, Kris Ann P. Schultz, Jiandong Yang, Leslie Doros, Philip S. Rosenberg, D. Ashley Hill, Louis P. Dehner

    Published 2014
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  8. 8
    454 sequencing put to the test using the complex genome of barley

    454 sequencing put to the test using the complex genome of barley by Thomas Wicker, Edith Schlagenhauf, Andreas Graner, Timothy J. Close, Beat Keller, Nils Stein

    Published 2006
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  9. 9
    Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger Sequencing

    Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger Sequencing by Linnea M. Baudhuin, Susan A. Lagerstedt, Eric W. Klee, Numrah Fadra, Devin Oglesbee, Matthew J. Ferber

    Published 2015
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  10. 10
    Mitochondrial Sequence Analysis for Forensic Identification Using Pyrosequencing Technology

    Mitochondrial Sequence Analysis for Forensic Identification Using Pyrosequencing Technology by H. Andréasson, A. Asp, Anders Alderborn, U. Gyllensten, Maxine Allen

    Published 2002
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  11. 11
    Febrile infection‐related epilepsy syndrome (FIRES) is not caused by <i>SCN1A, POLG, PCDH19</i> mutations or rare copy number variations

    Febrile infection‐related epilepsy syndrome (FIRES) is not caused by <i>SCN1A, POLG, PCDH19</i> mutations or rare copy number variations by Silke Appenzeller, Ingo Helbig, Ulrich Stephani, Martin Häusler, Gerhard Kluger, May Bungeroth, Stefanie H. Müller, Gregor Kuhlenbäumer, Andreas van Baalen

    Published 2012
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  12. 12
    Transactivating mutation of the<i>MYOD1</i>gene is a frequent event in adult spindle cell rhabdomyosarcoma

    Transactivating mutation of the<i>MYOD1</i>gene is a frequent event in adult spindle cell rhabdomyosarcoma by Károly Szuhai, Daniëlle de Jong, Wai Yi Leung, Christopher D.�M. Fletcher, Pancras C.W. Hogendoorn

    Published 2013
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  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
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  14. 14
    The amino-acid sequence in the phenylalanyl chain of insulin. 2. The investigation of peptides from enzymic hydrolysates

    The amino-acid sequence in the phenylalanyl chain of insulin. 2. The investigation of peptides from enzymic hydrolysates by Frederick Sanger, H. Tuppy

    Published 1951
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  15. 15
    Poly peak parser: Method and software for identification of unknown indels using sanger sequencing of polymerase chain reaction products

    Poly peak parser: Method and software for identification of unknown indels using sanger sequencing of polymerase chain reaction products by Jonathon T. Hill, Bradley L. Demarest, Brent W. Bisgrove, Yi‐Chu Su, Megan Smith, H. Joseph Yost

    Published 2014
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  16. 16
    Underlying Data for Sequencing the Mitochondrial Genome with the Massively Parallel Sequencing Platform Ion Torrent™ PGM™

    Underlying Data for Sequencing the Mitochondrial Genome with the Massively Parallel Sequencing Platform Ion Torrent™ PGM™ by Seung Bum Seo, Xiangpei Zeng, Jonathan L. King, Bobby LaRue, Mourad Assidi, Mohamed H. Alqahtani, Antti Sajantila, Bruce Budowle

    Published 2015
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  17. 17
    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
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  18. 18
    Presence of c.3956delC mutation in familial adenomatous polyposis patients from Brazil

    Presence of c.3956delC mutation in familial adenomatous polyposis patients from Brazil by Caroline Aquino Moreira-Nunes, Diego Di Felipe Ávila Alcântara, Sérgio Figueiredo Lima-Júnior, Sandro Roberto de Araújo Cavalléro, Juan A. Rey, Giovanny R. Pinto, Paulo Pimentel de Assumpção, Rommel Mário Rodríguez Burbano

    Published 2015
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  19. 19
    High frequency of <scp>BRAF</scp><scp>V600E</scp> mutations in ameloblastoma

    High frequency of <scp>BRAF</scp><scp>V600E</scp> mutations in ameloblastoma by Kari J. Kurppa, Javier Catón, Peter R. Morgan, Ari Ristimäki, Blandine Ruhin, Jari Kellokoski, Klaus Elenius, Kristiina Heikinheimo

    Published 2013
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  20. 20
    Molecular Diagnostic Profiling of Lung Cancer Specimens with a Semiconductor-Based Massive Parallel Sequencing Approach

    Molecular Diagnostic Profiling of Lung Cancer Specimens with a Semiconductor-Based Massive Parallel Sequencing Approach by Volker Endris, Roland Penzel, Arne Warth, Alexander Muckenhuber, Peter Schirmacher, Albrecht Stenzinger, Wilko Weichert

    Published 2013
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