The Journal of Molecular Diagnostics: July 2017 (Volume 19, Issue 4)
Review--------------------------------------------------------------------------------
Overgrowth Syndromes Caused by Somatic Variants in the Phosphatidylinositol 3-
Kinase/AKT/Mammalian Target of Rapamycin Pathway
Gozde Akgumus, Fengqi Chang, Marilyn M. Li
Commentary
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NPM1 for MRD? Droplet Like It's Hot!
Gerald B.W. Wertheim, Adam Bagg
Regular Articles
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Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of
Multiple Inherited Cancer Predisposing Syndromes
Paula Paulo, Pedro Pinto, Ana Peixoto, Catarina Santos, Carla Pinto, Patrícia Rocha, Isabel
Veiga, Gabriela Soares, Catarina Machado, Fabiana Ramos, Manuel R. Teixeira
Study of Preanalytic and Analytic Variables for Clinical Next-Generation Sequencing of
Circulating Cell-Free Nucleic Acid
Meenakshi Mehrotra, Rajesh R. Singh, Wei Chen, Richard S.P. Huang, Alaa A. Almohammedsalim,
Bedia A. Barkoh, Crystal M. Simien, Marcos Hernandez, Carmen Behrens, Keyur P. Patel, Mark
J. Routbort, Russell R. Broaddus, L. Jeffrey Medeiros, Ignacio I. Wistuba, Scott Kopetz,
Rajyalakshmi Luthra
Technical Validation of a Next-Generation Sequencing Assay for Detecting Clinically
Relevant Levels of Breast Cancer–Related Single-Nucleotide Variants and Copy Number
Variants Using Simulated Cell-Free DNA
Xin Yang, Yuxing Chu, Rui Zhang, Yanxi Han, Lucheng Zhang, Yu Fu, Dan Li, Rongxue Peng,
Dongdong Li, Jiansheng Ding, Ziyang Li, Meiru Zhao, Kuo Zhang, Tian Lu, Lang Yi, Qisheng
Wu, Guigao Lin, Jiehong Xie, Tao Liu, Ling Yang, Xin Yi, Jinming Li
Minimal Residual Disease Monitoring of Acute Myeloid Leukemia by Massively Multiplex
Digital PCR in Patients with NPM1 Mutations
Nuria Mencia-Trinchant, Yang Hu, Maria Antonina Alas, Fatima Ali, Bas J. Wouters, Sangmin
Lee, Ellen K. Ritchie, Pinkal Desai, Monica L. Guzman, Gail J. Roboz, Duane C. Hassane
Highly Multiplex Real-Time PCR–Based Screening for Blood-Borne Pathogens on an OpenArray Platform
Elena Grigorenko, Carolyn Fisher, Sunali Patel, Valerie Winkelman, Phillip Williamson,
Caren Chancey, Germán Añez, Maria Rios, Victoria Majam, Sanjai Kumar, Robert Duncan
Concordance between Research Sequencing and Clinical Pharmacogenetic Genotyping in the
eMERGE-PGx Study
Laura J. Rasmussen-Torvik, Berta Almoguera, Kimberly F. Doheny, Robert R. Freimuth, Adam S.
Gordon, Hakon Hakonarson, Jared B. Hawkins, Ammar Husami, Lynn C. Ivacic, Iftikhar J.
Kullo, Michael D. Linderman, Teri A. Manolio, Aniwaa Owusu Obeng, Renata Pellegrino,
Cynthia A. Prows, Marylyn D. Ritchie, Maureen E. Smith, Sarah C. Stallings, Wendy A. Wolf,
Kejian Zhang, Stuart A. Scott
Simultaneous Genotyping of α-Thalassemia Deletional and Nondeletional Mutations by
Real-Time PCR–Based Multicolor Melting Curve Analysis
Qiuying Huang, Xudong Wang, Ning Tang, Tizhen Yan, Ping Chen, Qingge Li
Improving Mutation Screening in Patients with Colorectal Cancer Predisposition Using
Next-Generation Sequencing
Jean-Marc Rey, Vincent Ducros, Pascal Pujol, Qing Wang, Marie-Pierre Buisine, Hanaa
Aissaoui, Thierry Maudelonde, Sylviane Olschwang
Utility of NIST Whole-Genome Reference Materials for the Technical Validation of a
Multigene Next-Generation Sequencing Test
Bennett O.V. Shum, Ilya Henner, Daniele Belluoccio, Marcus J. Hinchcliffe
Molecular Diagnosis of Mosaic Overgrowth Syndromes Using a Custom-Designed Next-
Generation Sequencing Panel
Fengqi Chang, Liu Liu, Erica Fang, Guangcheng Zhang, Tiansheng Chen, Kajia Cao, Yanchun Li,
Marilyn M. Li
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