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Somatic mutation

Single-Cell Genetic Analysis Using Automated Microfluidics to Resolve Somatic Mosaicism

Keith E. Szulwach, Peilin Chen, Xiaohui Wang, Jing Wang, Lesley S. Weaver, Michael L. Gonzales, Gang Sun, Marc A. Unger, Ramesh Ramakrishnan

published 24 Aug 2015

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Creation of Mice Bearing a Partial Duplication of HPRT Gene Marked with a GFP Gene and Detection of Revertant Cells In Situ as GFP-Positive Somatic Cells

Asao Noda, Hirofumi Suemori, Yuko Hirai, Kanya Hamasaki, Yoshiaki Kodama, Hiroshi Mitani, Reid D. Landes, Nori Nakamura

published 21 Aug 2015

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ExScalibur: A High-Performance Cloud-Enabled Suite for Whole Exome Germline and Somatic Mutation Identification

Riyue Bao, Kyle Hernandez, Lei Huang, Wenjun Kang, Elizabeth Bartom, Kenan Onel, Samuel Volchenboum, Jorge Andrade

published 13 Aug 2015

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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

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 R. Kloss

published 11 Aug 2015

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A TALEN-Exon Skipping Design for a Bethlem Myopathy Model in Zebrafish

Zlatko Radev, Jean-Michel Hermel, Yannick Elipot, Sandrine Bretaud, Sylvain Arnould, Philippe Duchateau, Florence Ruggiero, Jean-Stéphane Joly, Frédéric Sohm

published 29 Jul 2015

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Precise Classification of Cervical Carcinomas Combined with Somatic Mutation Profiling Contributes to Predicting Disease Outcome

Vivian M. Spaans, Marjolijn D. Trietsch, Alexander A. W. Peters, Michelle Osse, Natalja ter Haar, Gert J. Fleuren, Ekaterina S. Jordanova

published 21 Jul 2015

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Genetic Variants Associated with Port-Wine Stains

Alice Frigerio, Karol Wright, Whitney Wooderchak-Donahue, Oon T. Tan, Rebecca Margraf, David A. Stevenson, J. Fredrik Grimmer, Pinar Bayrak-Toydemir

published 20 Jul 2015

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Mitochondrial Mutations in Subjects with Psychiatric Disorders

Adolfo Sequeira, Brandi Rollins, Christophe Magnan, Mannis van Oven, Pierre Baldi, Richard M. Myers, Jack D. Barchas, Alan F. Schatzberg, Stanley J. Watson, Huda Akil, William E. Bunney, Marquis P. Vawter

published 26 May 2015

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Revealing the Molecular Portrait of Triple Negative Breast Tumors in an Understudied Population through Omics Analysis of Formalin-Fixed and Paraffin-Embedded Tissues

Felipe Vaca-Paniagua, Rosa María Alvarez-Gomez, Hector Aquiles Maldonado-Martínez, Carlos Pérez-Plasencia, Veronica Fragoso-Ontiveros, Federico Lasa-Gonsebatt, Luis Alonso Herrera, David Cantú, Enrique Bargallo-Rocha, Alejandro Mohar, Geoffroy Durand, Nathalie Forey, Catherine Voegele, Maxime Vallée, Florence Le Calvez-Kelm, James McKay, Maude Ardin, Stéphanie Villar, Jiri Zavadil, Magali Olivier

published 11 May 2015

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Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors

Daria C. Loconte, Valentina Grossi, Cristina Bozzao, Giovanna Forte, Rosanna Bagnulo, Alessandro Stella, Patrizia Lastella, Mario Cutrone, Francesco Benedicenti, Francesco C. Susca, Margherita Patruno, Dora Varvara, Aldo Germani, Luciana Chessa, Nicola Laforgia, Romano Tenconi, Cristiano Simone, Nicoletta Resta

published 27 Apr 2015

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Impact of Somatic Mutations in the D-Loop of Mitochondrial DNA on the Survival of Oral Squamous Cell Carcinoma Patients

Jin-Ching Lin, Chen-Chi Wang, Rong-San Jiang, Wen-Yi Wang, Shih-An Liu

published 23 Apr 2015

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Flexible Lab-Tailored Cut-Offs for Suitability of Formalin-Fixed Tumor Samples for Diagnostic Mutational Analyses

Sara Mariani, Cristiana Di Bello, Lisa Bonello, Fabrizio Tondat, Donatella Pacchioni, Luca Molinaro, Antonella Barreca, Luigia Macrì, Luigi Chiusa, Paola Francia di Celle, Paola Cassoni, Anna Sapino

published 06 Apr 2015

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Use of Genome-Wide Association Studies for Cancer Research and Drug Repositioning

Jizhun Zhang, Kewei Jiang, Liang Lv, Hui Wang, Zhanlong Shen, Zhidong Gao, Bo Wang, Yang Yang, Yingjiang Ye, Shan Wang

published 24 Mar 2015

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