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Mutation databases

The Influence of BRAF and KRAS Mutation Status on the Association between Aspirin Use and Survival after Colon Cancer Diagnosis

Martine A. Frouws, Marlies S. Reimers, [ ... ], Gerrit-Jan Liefers

A Novel Single Nucleotide T980C Polymorphism in the Human Carboxypeptidase E Gene Results in Loss of Neuroprotective Function

Lin Cong, Yong Cheng, [ ... ], Y. Peng Loh

Characterization of the Drug Resistance Profiles of Patients Infected with CRF07_BC Using Phenotypic Assay and Ultra-Deep Pyrosequencing

Szu-Wei Huang, Wei-You Li, [ ... ], Yi-Ming Arthur Chen

Polymorphisms and Mutational Covariation Associated with Death in a Prospective Cohort of HIV/AIDS Patients Receiving Long-Term ART in China

Pengtao Liu, Yi Feng, [ ... ], Yuhua Ruan

Rare Synaptogenesis-Impairing Mutations in SLITRK5 Are Associated with Obsessive Compulsive Disorder

Minseok Song, Carol A. Mathews, [ ... ], Charles E. Glatt

Genetic and Clinical Analyses of DOA and LHON in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy

Yadi Li, Jie Li, [ ... ], Xiangming Guo

Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies

Hyun-Seok Jin, Jeonhyun Kim, [ ... ], Cha Gon Lee

Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing

Marta de Castro-Miró, Raul Tonda, [ ... ], Roser Gonzàlez-Duarte

A Novel HRAS Mutation Independently Contributes to Left Ventricular Hypertrophy in a Family with a Known MYH7 Mutation

Maria Elena Sana, Lawrence A. Quilliam, [ ... ], Maria Iascone

A New Genetic Diagnostic for Enlarged Vestibular Aqueduct Based on Next-Generation Sequencing

Yalan Liu, Lili Wang, [ ... ], Lingyun Mei

Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss

Agnieszka Pollak, Urszula Lechowicz, [ ... ], Rafał Płoski

Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System

Moritoshi Kinoshita, Eiji Higashihara, [ ... ], Kikuo Nutahara

A Platform for Designing Genome-Based Personalized Immunotherapy or Vaccine against Cancer

Sudheer Gupta, Kumardeep Chaudhary, [ ... ], Gajendra P. S. Raghava

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