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Mutation detection

Analysis of RAD51D in Ovarian Cancer Patients and Families with a History of Ovarian or Breast Cancer

Ella R. Thompson, Simone M. Rowley, [ ... ], Ian G. Campbell

Mutational Spectrum of Semaphorin 3A and Semaphorin 3D Genes in Spanish Hirschsprung patients

Berta Luzón-Toro, Raquel M. Fernández, [ ... ], Salud Borrego

Detection of Low-Abundance KRAS Mutations in Colorectal Cancer Using Microfluidic Capillary Electrophoresis-Based Restriction Fragment Length Polymorphism Method with Optimized Assay Conditions

Huidan Zhang, Jin Song, [ ... ], Jin Fang

Allelic Expression Imbalance of JAK2 V617F Mutation in BCR-ABL Negative Myeloproliferative Neoplasms

Hye-Ran Kim, Hyun-Jung Choi, [ ... ], Myung-Geun Shin

Mutations in the Hedgehog Pathway Genes SMO and PTCH1 in Human Gastric Tumors

Xi-De Wang, Hector Inzunza, [ ... ], John Cogswell

Description of the L76V Resistance Protease Mutation in HIV-1 B and “Non-B” Subtypes

Charlotte Charpentier, Sidonie Lambert-Niclot, [ ... ], Diane Descamps

HeurAA: Accurate and Fast Detection of Genetic Variations with a Novel Heuristic Amplicon Aligner Program for Next Generation Sequencing

Lőrinc S. Pongor, Ferenc Pintér, István Peták

Comprehensive Mutation Analysis for Congenital Muscular Dystrophy: A Clinical PCR-Based Enrichment and Next-Generation Sequencing Panel

C. Alexander Valencia, Arunkanth Ankala, [ ... ], Madhuri Hegde

Comparison of Testing Methods for the Detection of BRAF V600E Mutations in Malignant Melanoma: Pre-Approval Validation Study of the Companion Diagnostic Test for Vemurafenib

Fernando Lopez-Rios, Barbara Angulo, [ ... ], David Gonzalez de Castro

A Novel Missense Mutation, I890T, in the Pore Region of Cardiac Sodium Channel Causes Brugada Syndrome

Anna Tarradas, Elisabet Selga, [ ... ], Ramon Brugada

Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype

Isabelle Perrault, Alejandro Estrada-Cuzcano, [ ... ], Jean-Michel Rozet

Claudin-19 Mutations and Clinical Phenotype in Spanish Patients with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis

Félix Claverie-Martín, Víctor García-Nieto, [ ... ], RenalTube Group

Investigation of Prolific Sheep from UK and Ireland for Evidence on Origin of the Mutations in BMP15 (FecXG, FecXB) and GDF9 (FecGH) in Belclare and Cambridge Sheep

Michael P. Mullen, James P. Hanrahan, Dawn J. Howard, Richard Powell

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