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Mutation databases

Whole Exome Analysis Identifies Frequent CNGA1 Mutations in Japanese Population with Autosomal Recessive Retinitis Pigmentosa

Satoshi Katagiri, Masakazu Akahori, Yuri Sergeev, Kazutoshi Yoshitake, Kazuho Ikeo, Masaaki Furuno, Takaaki Hayashi, Mineo Kondo, Shinji Ueno, Kazushige Tsunoda, Kei Shinoda, Kazuki Kuniyoshi, Yohinori Tsurusaki, Naomichi Matsumoto, Hiroshi Tsuneoka, Takeshi Iwata

published 30 Sep 2014

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Combining Structural Modeling with Ensemble Machine Learning to Accurately Predict Protein Fold Stability and Binding Affinity Effects upon Mutation

Niklas Berliner, Joan Teyra, Recep Çolak, Sebastian Garcia Lopez, Philip M. Kim

published 22 Sep 2014

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Two Novel Tyrosinase (TYR) Gene Mutations with Pathogenic Impact on Oculocutaneous Albinism Type 1 (OCA1)

Vadieh Ghodsinejad Kalahroudi, Behnam Kamalidehghan, Ahoura Arasteh Kani, Omid Aryani, Mahdi Tondar, Fatemeh Ahmadipour, Lip Yong Chung, Massoud Houshmand

published 12 Sep 2014

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Molecular Genetics of the Usher Syndrome in Lebanon: Identification of 11 Novel Protein Truncating Mutations by Whole Exome Sequencing

Ramesh Reddy, Somayyeh Fahiminiya, Elie El Zir, Ahmad Mansour, Andre Megarbane, Jacek Majewski, Rima Slim

published 11 Sep 2014

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Whole Genome Sequencing Reveals Novel Non-Synonymous Mutation in Ectodysplasin A (EDA) Associated with Non-Syndromic X-Linked Dominant Congenital Tooth Agenesis

Tanmoy Sarkar, Rajesh Bansal, Parimal Das

published 09 Sep 2014

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Genomic Characterisation of Small Cell Lung Cancer Patient-Derived Xenografts Generated from Endobronchial Ultrasound-Guided Transbronchial Needle Aspiration Specimens

Tracy L. Leong, Kieren D. Marini, Fernando J. Rossello, Samantha N. Jayasekara, Prudence A. Russell, Zdenka Prodanovic, Beena Kumar, Vinod Ganju, Muhammad Alamgeer, Louis B. Irving, Daniel P. Steinfort, Craig D. Peacock, Jason E. Cain, Anette Szczepny, D. Neil Watkins

published 05 Sep 2014

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Unambiguous Detection of Multiple TP53 Gene Mutations in AAN-Associated Urothelial Cancer in Belgium Using Laser Capture Microdissection

Selda Aydin, Anne-France Dekairelle, Jérôme Ambroise, Jean-François Durant, Michel Heusterspreute, Yves Guiot, Jean-Pierre Cosyns, Jean-Luc Gala

published 03 Sep 2014

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In Silico Identification of New Putative Pathogenic Variants in the Neu1 Sialidase Gene Affecting Enzyme Function and Subcellular Localization

Dario Bonardi, Viola Ravasio, Giuseppe Borsani, Alessandra d'Azzo, Roberto Bresciani, Eugenio Monti, Edoardo Giacopuzzi

published 25 Aug 2014

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Gene-Specific Function Prediction for Non-Synonymous Mutations in Monogenic Diabetes Genes

Quan Li, Xiaoming Liu, Richard A. Gibbs, Eric Boerwinkle, Constantin Polychronakos, Hui-Qi Qu

published 19 Aug 2014

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Mutation Screening of Retinal Dystrophy Patients by Targeted Capture from Tagged Pooled DNAs and Next Generation Sequencing

Christopher M. Watson, Mohammed El-Asrag, David A. Parry, Joanne E. Morgan, Clare V. Logan, Ian M. Carr, Eamonn Sheridan, Ruth Charlton, Colin A. Johnson, Graham Taylor, Carmel Toomes, Martin McKibbin, Chris F. Inglehearn, Manir Ali

published 18 Aug 2014

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PMCA4 (ATP2B4) Mutation in Familial Spastic Paraplegia

Miaoxin Li, Philip Wing-Lok Ho, Shirley Yin-Yu Pang, Zero Ho-Man Tse, Michelle Hiu-Wai Kung, Pak-Chung Sham, Shu-Leong Ho

published 13 Aug 2014

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Computational Screening and Molecular Dynamic Simulation of Breast Cancer Associated Deleterious Non-Synonymous Single Nucleotide Polymorphisms in TP53 Gene

Kumaraswamy Naidu Chitrala, Suneetha Yeguvapalli

published 08 Aug 2014

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IthaGenes: An Interactive Database for Haemoglobin Variations and Epidemiology

Petros Kountouris, Carsten W. Lederer, Pavlos Fanis, Xenia Feleki, John Old, Marina Kleanthous

published 24 Jul 2014

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