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Somatic mutation

Massively Parallel Sequencing Reveals an Accumulation of De Novo Mutations and an Activating Mutation of LPAR1 in a Patient with Metastatic Neuroblastoma

Jun S. Wei, Peter Johansson, Li Chen, Young K. Song, Catherine Tolman, Samuel Li, Laura Hurd, Rajesh Patidar, Xinyu Wen, Thomas C. Badgett, Adam T. C. Cheuk, Jean-Claude Marshall, Patricia S. Steeg, José P. Vaqué Díez, Yanlin Yu, J. Silvio Gutkind, Javed Khan

published 16 Oct 2013

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Familial Occurrence of Systemic Mast Cell Activation Disease

Gerhard J. Molderings, Britta Haenisch, Manuela Bogdanow, Rolf Fimmers, Markus M. Nöthen

published 30 Sep 2013

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Colorectal Cancers from Distinct Ancestral Populations Show Variations in BRAF Mutation Frequency

Megan C. Hanna, Christina Go, Christine Roden, Robert T. Jones, Panisa Pochanard, Ahmed Yasir Javed, Awais Javed, Chandrani Mondal, Emanuele Palescandolo, Paul Van Hummelen, Charles Hatton, Adam J. Bass, Sung Min Chun, Deuk Chae Na, Tae-Im Kim, Se Jin Jang, Raymond U. Osarogiagbon, William C. Hahn, Matthew Meyerson, Levi A. Garraway, Laura E. MacConaill

published 16 Sep 2013

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Identification and Characterization of Cancer Mutations in Japanese Lung Adenocarcinoma without Sequencing of Normal Tissue Counterparts

Ayako Suzuki, Sachiyo Mimaki, Yuki Yamane, Akikazu Kawase, Koutatsu Matsushima, Makito Suzuki, Koichi Goto, Sumio Sugano, Hiroyasu Esumi, Yutaka Suzuki, Katsuya Tsuchihara

published 12 Sep 2013

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Genetic Aberrations in Imatinib-Resistant Dermatofibrosarcoma Protuberans Revealed by Whole Genome Sequencing

Jung Yong Hong, Xiao Liu, Mao Mao, Miao Li, Dong Il Choi, Shin Woo Kang, Jeeyun Lee, Yoon La Choi

published 29 Jul 2013

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Prediction of Disease Causing Non-Synonymous SNPs by the Artificial Neural Network Predictor NetDiseaseSNP

Morten Bo Johansen, Jose M. G. Izarzugaza, Søren Brunak, Thomas Nordahl Petersen, Ramneek Gupta

published 25 Jul 2013

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Can ALS-Associated C9orf72 Repeat Expansions Be Diagnosed on a Blood DNA Test Alone?

Roger Pamphlett, Pak Leng Cheong, Ronald J. Trent, Bing Yu

published 19 Jul 2013

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Heritable and Precise Zebrafish Genome Editing Using a CRISPR-Cas System

Woong Y. Hwang, Yanfang Fu, Deepak Reyon, Morgan L. Maeder, Prakriti Kaini, Jeffry D. Sander, J. Keith Joung, Randall T. Peterson, Jing-Ruey Joanna Yeh

published 09 Jul 2013

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Correlation of Gene Expression and Genome Mutation in Single B-Cells

Joshua A. Weinstein, Xun Zeng, Yueh-Hsiu Chien, Stephen R. Quake

published 28 Jun 2013

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Clinical Significance in Oral Cavity Squamous Cell Carcinoma of Pathogenic Somatic Mitochondrial Mutations

Chih-Hsiung Lai, Shiang-Fu Huang, Chun-Ta Liao, I-How Chen, Hung-Ming Wang, Ling-Ling Hsieh

published 14 Jun 2013

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Evolution of a Higher Intracellular Oxidizing Environment in Caenorhabditis elegans under Relaxed Selection

Joanna Joyner-Matos, Kiley A. Hicks, Dustin Cousins, Michelle Keller, Dee R. Denver, Charles F. Baer, Suzanne Estes

published 11 Jun 2013

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Sequencing of Candidate Chromosome Instability Genes in Endometrial Cancers Reveals Somatic Mutations in ESCO1, CHTF18, and MRE11A

Jessica C. Price, Lana M. Pollock, Meghan L. Rudd, Sarah K. Fogoros, Hassan Mohamed, Christin L. Hanigan, Matthieu Le Gallo, NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program, Suiyuan Zhang, Pedro Cruz, Praveen F. Cherukuri, Nancy F. Hansen, Kirk J. McManus, Andrew K. Godwin, Dennis C. Sgroi, James C. Mullikin, Maria J. Merino, Philip Hieter, Daphne W. Bell

published 03 Jun 2013

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The Novel Ubiquitin Ligase Complex, SCF^Fbxw4, Interacts with the COP9 Signalosome in an F-Box Dependent Manner, Is Mutated, Lost and Under-Expressed in Human Cancers

William W. Lockwood, Sahiba K. Chandel, Greg L. Stewart, Hediye Erdjument-Bromage, Levi J. Beverly

published 02 May 2013

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