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Mutation databases

Common and Rare EGFR and KRAS Mutations in a Dutch Non-Small-Cell Lung Cancer Population and Their Clinical Outcome

Gerald S. M. A. Kerner, Ed Schuuring, Johanna Sietsma, Thijo J. N. Hiltermann, Remge M. Pieterman, Gerard P. J. de Leede, John W. G. van Putten, Jeroen Liesker, Tineke E. J. Renkema, Peter van Hengel, Inge Platteel, Wim Timens, Harry J. M. Groen, the CTMM Air Force Consortium

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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Whole Genome SNP Genotyping and Exome Sequencing Reveal Novel Genetic Variants and Putative Causative Genes in Congenital Hyperinsulinism

Maria Carla Proverbio, Eleonora Mangano, Alessandra Gessi, Roberta Bordoni, Roberta Spinelli, Rosanna Asselta, Paola Sogno Valin, Stefania Di Candia, Ilaria Zamproni, Cecilia Diceglie, Stefano Mora, Manuela Caruso-Nicoletti, Alessandro Salvatoni, Gianluca De Bellis, Cristina Battaglia

published 15 Jul 2013

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Structural Analysis of Mitochondrial Mutations Reveals a Role for Bigenomic Protein Interactions in Human Disease

Rhiannon E. Lloyd, John E. McGeehan

published 09 Jul 2013

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The Role of Balanced Training and Testing Data Sets for Binary Classifiers in Bioinformatics

Qiong Wei, Roland L. Dunbrack Jr

published 09 Jul 2013

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Autosomal Recessive Transmission of MYBPC3 Mutation Results in Malignant Phenotype of Hypertrophic Cardiomyopathy

Yilu Wang, Zhimin Wang, Qi Yang, Yubao Zou, Hongju Zhang, Chaowu Yan, Xinxing Feng, Yi Chen, Yin Zhang, Jizheng Wang, Xianliang Zhou, Ferhaan Ahmad, Rutai Hui, Lei Song

published 28 Jun 2013

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Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis

Marta Corton, Koji M. Nishiguchi, Almudena Avila-Fernández, Konstantinos Nikopoulos, Rosa Riveiro-Alvarez, Sorina D. Tatu, Carmen Ayuso, Carlo Rivolta

published 14 Jun 2013

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Novel SACS Mutations Identified by Whole Exome Sequencing in a Norwegian Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Charalampos Tzoulis, Stefan Johansson, Bjørn Ivar Haukanes, Helge Boman, Per Morten Knappskog, Laurence A. Bindoff

published 13 Jun 2013

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Fitness Costs of Mutations at the HIV-1 Capsid Hexamerization Interface

Siriphan Manocheewa, J. Victor Swain, Erinn Lanxon-Cookson, Morgane Rolland, James I. Mullins

published 13 Jun 2013

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Structural Modeling and In Silico Analysis of Human Superoxide Dismutase 2

Mariana Dias Castela de Carvalho, Joelma Freire De Mesquita

published 13 Jun 2013

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Credibility Analysis of Putative Disease-Causing Genes Using Bioinformatics

Olubunmi Abel, John F. Powell, Peter M. Andersen, Ammar Al-Chalabi

published 05 Jun 2013

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Effect of Single Amino Acid Substitution Observed in Cancer on Pim-1 Kinase Thermodynamic Stability and Structure

Clorinda Lori, Antonella Lantella, Alessandra Pasquo, Leila T. Alexander, Stefan Knapp, Roberta Chiaraluce, Valerio Consalvi

published 05 Jun 2013

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The Role of Recombination in the Origin and Evolution of Alu Subfamilies

Ana Teixeira-Silva, Raquel M. Silva, João Carneiro, António Amorim, Luísa Azevedo

published 04 Jun 2013

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