The Journal of Molecular Diagnostics: Sep-2015

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Special Article
         
Fragile X Syndrome
Justine I. Lyons, Gregory R. Kerr, Patricia W. Mueller

       
Review

       
Targeted Next-Generation Sequencing for Hereditary Cancer Syndromes
Laura J. Tafe
         
Commentary
         
A Proof-of-Concept Case Study for Personalized Noninvasive Prenatal Diagnosis
Heather G. LaBreche, Siby Sebastian
         
Regular Articles
         
Mutations in the Kinase Domain of the HER2/ERBB2 Gene Identified in a Wide Variety of Human Cancers
Wenhsiang Wen, Wangjuh (Sting) Chen, Nick Xiao, Ryan Bender, Anatole Ghazalpour, Zheng Tan, Jeffrey Swensen, Sherri Z. Millis, Gargi Basu, Zoran Gatalica, Michael F. Press

       
Oligonucleotide PIK3CA/Chromosome 3 Dual in Situ Hybridization Automated Assay with Improved Signals, One-Hour Hybridization, and No Use of Blocking DNA
Wenjun Zhang, Antony Hubbard, Leslie Baca-Parkinson, Stacey Stanislaw, Frank Vladich, Mark D. Robida, James G. Grille, Daniel Maxwell, Tsu-Shuen Tsao, William Carroll, Tracie Gardner, June Clements, Shalini Singh, Lei Tang

       
Risk of Misdiagnosis Due to Allele Dropout and False-Positive PCR Artifacts in Molecular Diagnostics
Jonatan Blais, Sébastien B. Lavoie, Sylvie Giroux, Johanne Bussières, Carmen Lindsay, Jacqueline Dionne, Mélissa Laroche, Yves Giguère, François Rousseau

       
Droplet Digital PCR for Absolute Quantification of EML4-ALK Gene Rearrangement in Lung Adenocarcinoma
Qiushi Wang, Xin Yang, Yong He, Qiang Ma, Li Lin, Ping Fu, Hualiang Xiao

       
Somatic Mutation Screening Using Archival Formalin-Fixed, Paraffin-Embedded Tissues by Fluidigm Multiplex PCR and Illumina Sequencing
Ming Wang, Leire Escudero-Ibarz, Sarah Moody, Naiyan Zeng, Alexandra Clipson, Yuanxue Huang, Xuemin Xue, Nicholas F. Grigoropoulos, Sharon Barrans, Lisa Worrillow, Tim Forshew, Jing Su, Andrew Firth, Howard Martin, Andrew Jack, Kim Brugger, Ming-Qing Du

       
A Systematic Comparison of Traditional and Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Genes in More Than 1000 Patients
Stephen E. Lincoln, Yuya Kobayashi, Michael J. Anderson, Shan Yang, Andrea J. Desmond, Meredith A. Mills, Geoffrey B. Nilsen, Kevin B. Jacobs, Federico A. Monzon, Allison W. Kurian, James M. Ford, Leif W. Ellisen

       
A Comprehensive Strategy for Accurate Mutation Detection of the Highly Homologous PMS2
Jianli Li, Hongzheng Dai, Yanming Feng, Jia Tang, Stella Chen, Xia Tian, Elizabeth Gorman, Eric S. Schmitt, Terah A.A. Hansen, Jing Wang, Sharon E. Plon, Victor Wei Zhang, Lee-Jun C. Wong

       
Cancer Driver Log (CanDL)
Senthilkumar Damodaran, Jharna Miya, Esko Kautto, Eliot Zhu, Eric Samorodnitsky, Jharna Datta, Julie W. Reeser, Sameek Roychowdhury

       
Evaluation of Severe Combined Immunodeficiency and Combined Immunodeficiency Pediatric Patients on the Basis of Cellular Radiosensitivity
Pavel Lobachevsky, Lisa Woodbine, Kuang-Chih Hsiao, Sharon Choo, Chris Fraser, Paul Gray, Jai Smith, Nickala Best, Laura Munforte, Elena Korneeva, Roger F. Martin, Penny A. Jeggo, Olga A. Martin

       
Processed Pseudogene Confounding Deletion/Duplication Assays for SMAD4
Alison Millson, Tracey Lewis, Tina Pesaran, David Salvador, Katrina Gillespie, Chia-Ling Gau, Genevieve Pont-Kingdon, Elaine Lyon, Pinar Bayrak-Toydemir

       
Interferon λ 3 and 4 Genotyping Using High-Resolution Melt Curve Analysis Suitable for Multiple Clinical Sample Types
François M.J. Lamoury, Sofia Bartlett, Brendan Jacka, Behzad Hajarizadeh, Jason Grebely, Gail V. Matthews, Gregory J. Dore, Tanya L. Applegate

       
A Novel Targeted Approach for Noninvasive Detection of Paternally Inherited Mutations in Maternal Plasma
Jessica M.E. van den Oever, Ivonne J.H.M. van Minderhout, Cornelis L. Harteveld, Nicolette S. den Hollander, Egbert Bakker, Nienke van der Stoep, Elles M.J. Boon

       
Clinical Usefulness of PCR for Differential Diagnosis of Tuberculosis and Nontuberculous Mycobacterial Infection in Paraffin-Embedded Lung Tissues
Yo Na Kim, Kyoung Min Kim, Ha Na Choi, Ju Hyung Lee, Ho Sung Park, Kyu Yun Jang, Woo Sung Moon, Myoung Jae Kang, Dong Geun Lee, Myoung Ja Chung

       
Analytical Validation of Quantitative Real-Time PCR Methods for Quantification of Trypanosoma cruzi DNA in Blood Samples from Chagas Disease Patients
Juan Carlos Ramírez, Carolina Inés Cura, Otacilio da Cruz Moreira, Eliane Lages-Silva, Natalia Juiz, Elsa Velázquez, Juan David Ramírez, Anahí Alberti, Paula Pavia, María Delmans Flores-Chávez, Arturo Muñoz-Calderón, Deyanira Pérez-Morales, José Santalla, Paulo Marcos da Matta Guedes, Julie Peneau, Paula Marcet, Carlos Padilla, David Cruz-Robles, Edward Valencia, Gladys Elena Crisante, Gonzalo Greif, Inés Zulantay, Jaime Alfredo Costales, Miriam Alvarez-Martínez, Norma Edith Martínez, Rodrigo Villarroel, Sandro Villarroel, Zunilda Sánchez, Margarita Bisio, Rudy Parrado, Lúcia Maria da Cunha Galvão, Antonia Cláudia Jácome da Câmara, Bertha Espinoza, Belkisyole Alarcón de Noya, Concepción Puerta, Adelina Riarte, Patricio Diosque, Sergio Sosa-Estani, Felipe Guhl, Isabela Ribeiro, Christine Aznar, Constança Britto, Zaida Estela Yadón, Alejandro G. Schijman

       
Duplex Ratio Tests as Diagnostic Biomarkers in Malignant Melanoma
David A. Moore, Gerald Saldanha, Abdlrzag Ehdode, Mohamed Z. Mughal, Linda Potter, Lovesh Dyall, James H. Pringle