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

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Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory 由 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

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Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies 由 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

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

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<i>WDR73</i>Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease 由 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

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

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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... 由 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

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

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

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

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

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

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Mutations in human IFT140 cause non-syndromic retinal degeneration 由 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

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

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

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

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

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Presence of c.3956delC mutation in familial adenomatous polyposis patients from Brazil 由 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

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

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

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