The Journal of Molecular Diagnostics: Sep-2016
The Journal of Molecular Diagnostics: Sep-2016 (Volume 18, Issue 5)Special Article
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The Spectrum of Clinical Utilities in Molecular Pathology Testing Procedures for Inherited Conditions and Cancer
Loren Joseph, Milena Cankovic, Samuel Caughron, Pranil Chandra, Rajyasree Emmadi, Jill Hagenkord, Stephanie Hallam, Kay E. Jewell, Roger D. Klein, Victoria M. Pratt, Paul G. Rothberg, Robyn L. Temple-Smolkin, Elaine Lyon
Review
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Recent Advances on the Molecular Pathology of Glial Neoplasms in Children and Adults
Fausto J. Rodriguez, M. Adelita Vizcaino, Ming-Tseh Lin
Commentary
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Clinical Validity and Utility
Daniel H. Farkas
Technical Advances
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Challenges in Determining Genotypes for Pharmacogenetics in Allogeneic Hematopoietic Cell Transplant Recipients
Loralie J. Langman, Lior Nesher, Dimpy P. Shah, Jacques M. Azzi, Elizabeth J. Shpall, Katy Rezvani, John L. Black III, Roy F. Chemaly
Development and Validation of a Template-Independent Next-Generation Sequencing Assay for Detecting Low-Level Resistance-Associated Variants of Hepatitis C Virus
Bo Wei, John Kang, Miho Kibukawa, Lei Chen, Ping Qiu, Fred Lahser, Matthew Marton, Diane Levitan
Open Access
Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis
Laila C. Schenkel, Jennifer Kerkhof, Alan Stuart, Jack Reilly, Barry Eng, Crystal Woodside, Alexander Levstik, Christopher J. Howlett, Anthony C. Rupar, Joan H.M. Knoll, Peter Ainsworth, John S. Waye, Bekim Sadikovic
Regular Articles
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Performance Characteristics and Validation of Next-Generation Sequencing for Human Leucocyte Antigen Typing
Eric T. Weimer, Maureen Montgomery, Rosanne Petraroia, John Crawford, John L. Schmitz
Comprehensive Screening of Gene Copy Number Aberrations in Formalin-Fixed, Paraffin-Embedded Solid Tumors Using Molecular Inversion Probe–Based Single-Nucleotide Polymorphism Array
Rajesh R. Singh, Meenakshi Mehrotra, Hui Chen, Alaa A. Almohammedsalim, Ayesagul Sahin, Alex Bosamra, Keyur P. Patel, Mark J. Routbort, Xinyan Lu, Abraham Ronald, Bal Mukund Mishra, Shumaila Virani, L. Jeffrey Medeiros, Rajyalakshmi Luthra
Reality of Single Circulating Tumor Cell Sequencing for Molecular Diagnostics in Pancreatic Cancer
Colin M. Court, Jacob S. Ankeny, Shonan Sho, Shuang Hou, Qingyu Li, Carolyn Hsieh, Min Song, Xinfang Liao, Matthew M. Rochefort, Zev A. Wainberg, Thomas G. Graeber, Hsian-Rong Tseng, James S. Tomlinson
Health Care Infrastructure for Financially Sustainable Clinical Genomics
Jochen K. Lennerz, Heather M. McLaughlin, Jason M. Baron, David Rasmussen, Meini Sumbada Shin, Nancy Berners-Lee, Julie Miller Batten, Kathryn J. Swoboda, Manish K. Gala, Harland S. Winter, Jeremy D. Schmahmann, David A. Sweetser, Marianne Boswell, Maciej Pacula, Albrecht Stenzinger, Long P. Le, William Hynes, Heidi L. Rehm, Anne Klibanski, Stephen W. Black-Schaffer, Jeffrey A. Golden, David N. Louis, Scott T. Weiss, A. John Iafrate
Rapid Molecular Profiling of Myeloproliferative Neoplasms Using Targeted Exon Resequencing of 86 Genes Involved in JAK-STAT Signaling and Epigenetic Regulation
Graham W. Magor, Michael R. Tallack, Nathan M. Klose, Debra Taylor, Darren Korbie, Peter Mollee, Matt Trau, Andrew C. Perkins
Defining the Performance Parameters of a Rapid Screening Tool for FMR1 CGG-Repeat Expansions Based on Direct Triplet-Primed PCR and Melt Curve Analysis
Indhu-Shree Rajan-Babu, Mulias Lian, Anh H. Tran, Truong T. Dang, Huong T.-M. Le, Minh N. Thanh, Caroline G. Lee, Samuel S. Chong
Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies
Melissa Alame, Delphine Lacourt, Reda Zenagui, Déborah Mechin, Fabienne Danton, Michel Koenig, Mireille Claustres, Mireille Cossée
Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy
Yu-jin Qu, Jin-li Bai, Yan-yan Cao, Hong Wang, Yu-wei Jin, Juan Du, Xiu-shan Ge, Wen-hui Zhang, Yan Li, Sheng-xi He, Fang Song
Certified DNA Reference Materials to Compare HER2 Gene Amplification Measurements Using Next-Generation Sequencing Methods
Chih-Jian Lih, Han Si, Biswajit Das, Robin D. Harrington, Kneshay N. Harper, David J. Sims, Paul M. McGregor, Corinne E. Camalier, Andrew Y. Kayserian, P. Mickey Williams, Hua-Jun He, Jamie L. Almeida, Steve P. Lund, Steve Choquette, Kenneth D. Cole
Open Access
A Set of Assays for the Comprehensive Analysis of FMR1 Alleles in the Fragile X–Related Disorders
Bruce E. Hayward, Yifan Zhou, Daman Kumari, Karen Usdin
Diagnostic Detection of Allelic Losses and Imbalances by Next-Generation Sequencing
Hendrikus J. Dubbink, Peggy N. Atmodimedjo, Ronald van Marion, Niels M.G. Krol, Peter H.J. Riegman, Johan M. Kros, Martin J. van den Bent, Winand N.M. Dinjens
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