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Frameshift mutation

Loss of function JAK1 mutations occur at high frequency in cancers with microsatellite instability and are suggestive of immune evasion

Lee A. Albacker, Jeremy Wu, [ ... ], Juliann Chmielecki

Prevalence and spectrum of AKT1, PIK3CA, PTEN and TP53 somatic mutations in Chinese breast cancer patients

Guoli Li, Xinwu Guo, [ ... ], Jun Wang

The Genomic Landscape of TP53 and p53 Annotated High Grade Ovarian Serous Carcinomas from a Defined Founder Population Associated with Patient Outcome

Paulina M. Wojnarowicz, Kathleen Klein Oros, [ ... ], Patricia N. Tonin

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

Rhiannon E. Lloyd, John E. McGeehan

Genetic Background Analysis of Protein C Deficiency Demonstrates a Recurrent Mutation Associated with Venous Thrombosis in Chinese Population

Liang Tang, Tao Guo, [ ... ], Yu Hu

Surveillance of Helicobacter pylori Antibiotic Susceptibility in Indonesia: Different Resistance Types among Regions and with Novel Genetic Mutations

Muhammad Miftahussurur, Ari Fahrial Syam, [ ... ], Yoshio Yamaoka

Nonsense Mediated Decay Resistant Mutations Are a Source of Expressed Mutant Proteins in Colon Cancer Cell Lines with Microsatellite Instability

David S. Williams, Matthew J. Bird, [ ... ], Antony W. Burgess

Understanding the Pathogenicity of Burkholderia contaminans, an Emerging Pathogen in Cystic Fibrosis

Jaroslav Nunvar, Lucie Kalferstova, [ ... ], Pavel Drevinek

In Vivo Evolution of Bacterial Resistance in Two Cases of Enterobacter aerogenes Infections during Treatment with Imipenem

Nadège Philippe, Laure Maigre, [ ... ], Muriel Masi

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

Genetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families

Sobia Shafique, Saima Siddiqi, [ ... ], Raheel Qamar

Ubiquitin Ligases of the N-End Rule Pathway: Assessment of Mutations in UBR1 That Cause the Johanson-Blizzard Syndrome

Cheol-Sang Hwang, Maja Sukalo, [ ... ], Martin Zenker

Single Nucleotide Polymorphism Array Lesions, TET2, DNMT3A, ASXL1 and CBL Mutations Are Present in Systemic Mastocytosis

Fabiola Traina, Valeria Visconte, [ ... ], Ramon V. Tiu

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