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Mutation databases

High-Throughput Genotyping in Metastatic Esophageal Squamous Cell Carcinoma Identifies Phosphoinositide-3-Kinase and BRAF Mutations

Chi Hoon Maeng, Jeeyun Lee, Paul van Hummelen, Se Hoon Park, Emanuele Palescandolo, Jiryeon Jang, Ha Young Park, So Young Kang, Laura MacConaill, Kyoung-Mee Kim, Young-Mog Shim

published 03 Aug 2012

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SIMPLEX: Cloud-Enabled Pipeline for the Comprehensive Analysis of Exome Sequencing Data

Maria Fischer, Rene Snajder, Stephan Pabinger, Andreas Dander, Anna Schossig, Johannes Zschocke, Zlatko Trajanoski, Gernot Stocker

published 01 Aug 2012

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PRRT2 Mutations in Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions in a Taiwanese Cohort

Yi-Chung Lee, Ming-Jen Lee, Hsiang-Yu Yu, Chien Chen, Chang-Hung Hsu, Kon-Ping Lin, Kwong-Kum Liao, Ming-Hong Chang, Yi-Chu Liao, Bing-Wen Soong

published 01 Aug 2012

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Unique Alterations of an Ultraconserved Non-Coding Element in the 3′UTR of ZIC2 in Holoprosencephaly

Erich Roessler, Ping Hu, Sung-Kook Hong, Kshitij Srivastava, Blake Carrington, Raman Sood, Hanna Petrykowska, Laura Elnitski, Lucilene A. Ribeiro, Antonio Richieri-Costa, Benjamin Feldman, Ward F. Odenwald, Maximilian Muenke

published 31 Jul 2012

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Comprehensive Mutation Analysis in Colorectal Flat Adenomas

Quirinus J. M. Voorham, Beatriz Carvalho, Angela J. Spiertz, Bart Claes, Sandra Mongera, Nicole C. T. van Grieken, Heike Grabsch, Martin Kliment, Bjorn Rembacken, Mark A. van de Wiel, Philip Quirke, Chris J. J. Mulder, Diether Lambrechts, Manon van Engeland, Gerrit A. Meijer

published 27 Jul 2012

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Genes Associated with Retinitis Pigmentosa and Allied Diseases Are Frequently Mutated in the General Population

Koji M. Nishiguchi, Carlo Rivolta

published 27 Jul 2012

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Mapping the Mutual Information Network of Enzymatic Families in the Protein Structure to Unveil Functional Features

Daniel Aguilar, Baldo Oliva, Cristina Marino Buslje

published 25 Jul 2012

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Image Correlation Method for DNA Sequence Alignment

Millaray Curilem Saldías, Felipe Villarroel Sassarini, Carlos Muñoz Poblete, Asticio Vargas Vásquez, Iván Maureira Butler

published 27 Jun 2012

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Identification of Novel Mutations in HEXA Gene in Children Affected with Tay Sachs Disease from India

Mehul Mistri, Parag M. Tamhankar, Frenny Sheth, Daksha Sanghavi, Pratima Kondurkar, Swapnil Patil, Susan Idicula-Thomas, Sarita Gupta, Jayesh Sheth

published 18 Jun 2012

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Leukemia Gene Atlas – A Public Platform for Integrative Exploration of Genome-Wide Molecular Data

Katja Hebestreit, Sören Gröttrup, Daniel Emden, Jannis Veerkamp, Christian Ruckert, Hans-Ulrich Klein, Carsten Müller-Tidow, Martin Dugas

published 14 Jun 2012

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New Mutations in Chronic Lymphocytic Leukemia Identified by Target Enrichment and Deep Sequencing

Elena Doménech, Gonzalo Gómez-López, Daniel Gzlez-Peña, Mar López, Beatriz Herreros, Juliane Menezes, Natalia Gómez-Lozano, Angel Carro, Osvaldo Graña, David G. Pisano, Orlando Domínguez, José A. García-Marco, Miguel A. Piris, Margarita Sánchez-Beato

published 01 Jun 2012

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KRASness and PIK3CAness in Patients with Advanced Colorectal Cancer: Outcome after Treatment with Early-Phase Trials with Targeted Pathway Inhibitors

Ignacio Garrido-Laguna, David S. Hong, Filip Janku, Ly M. Nguyen, Gerald S. Falchook, Siqing Fu, Jenifer J. Wheler, Rajyalakshmi Luthra, Aung Naing, Xuemei Wang, Razelle Kurzrock

published 31 May 2012

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Functional Analysis of Alleged NOGGIN Mutation G92E Disproves Its Pathogenic Relevance

Julia Zimmer, Sandra C. Doelken, Denise Horn, Jay C. Groppe, Eileen M. Shore, Frederick S. Kaplan, Petra Seemann

published 18 Apr 2012

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