The Journal of Molecular Diagnostics: April 2020 (Volume 22, Issue 4)

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Technical Advance
         
Use of Spiked Normalizers to More Precisely Quantify Tumor Markers and Viral Genomes by Massive Parallel Sequencing of Plasma DNA
Margaret L. Gulley, Sandra Elmore, Gaorav P. Gupta, Sunil Kumar, Matthew Egleston, Ian J. Hoskins, Aaron Garnett

       
Regular Articles

       
Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins
Justyna A. Karolak, Qian Liu, Nina G. Xie, Lucia R. Wu, Gustavo Rocha, Susana Fernandes, Luk Ho-Ming, Ivan F. Lo, David Mowat, Elizabeth K. Fiorino, Morris Edelman, Joyce Fox, Denise A. Hayes, David Witte, Ashley Parrott, Edwina Popek, Przemyslaw Szafranski, David Y. Zhang, Pawel Stankiewicz

       
Differential Diagnosis of Malignant Pleural Mesothelioma on Cytology: A Gene Expression Panel versus BRCA1-Associated Protein 1 and p16 Tests
Rossella Bruno, Greta Alì, Anello M. Poma, Agnese Proietti, Roberta Libener, Narciso Mariani, Cristina Niccoli, Antonio Chella, Alessandro Ribechini, Federica Grosso, Gabriella Fontanini

       
Assessing the Diagnostic Yield of Targeted Next-Generation Sequencing for Melanoma and Gastrointestinal Tumors
Swati Garg, Sylvie Grenier, Maksym Misyura, Mahadeo A. Sukhai, Mariam Thomas, Suzanne Kamel-Reid, Tracy Stockley

       
ViroPanel: Hybrid Capture and Massively Parallel Sequencing for Simultaneous Detection and Profiling of Oncogenic Virus Infection and Tumor Genome
Michael K. Slevin, Bruce M. Wollison, Winslow Powers, Robert T. Burns, Neil Patel, Matthew D. Ducar, Gabriel J. Starrett, Elizabeth P. Garcia, Danielle K. Manning, Jingwei Cheng, Glenn J. Hanna, Kenneth M. Kaye, Paul Van Hummelen, Anwesha Nag, Aaron R. Thorner, James A. DeCaprio, Laura E. MacConaill

       
Setup and Validation of a Targeted Next-Generation Sequencing Approach for the Diagnosis of Lysosomal Storage Disorders
Alessandra Zanetti, Francesca D'Avanzo, Loris Bertoldi, Guido Zampieri, Erika Feltrin, Fabio De Pascale, Angelica Rampazzo, Monica Forzan, Giorgio Valle, Rosella Tomanin
Open Access

       
Optimized PCR-Based Enrichment Improves Coverage Uniformity and Mutation Detection in Mitochondrial DNA Next-Generation Sequencing
Yang Liu, Shanshan Guo, Chun Yin, Xu Guo, Manling Liu, Zhidong Yuan, Zheng Zhao, Yongfeng Jia, Jinliang Xing

       
Molecular Profiling for Supernatants and Matched Cell Pellets of Pleural Effusions in Non–Small-Cell Lung Cancer
Chan Xiang, Mingfei Huo, Shengji Ma, Lianying Guo, Ruiying Zhao, Haohua Teng, Jie Zhang, Yuchen Han

       
Clinical Utility of a High-Resolution Melting Test for Screening Numerical Chromosomal Abnormalities in Recurrent Pregnancy Loss
Yulin Zhou, Wenyan Xu, Yancheng Jiang, Zhongmin Xia, Haixia Zhang, Xiaolu Chen, Zengge Wang, Yunsheng Ge, Qiwei Guo

       
Expanding the Clinical and Molecular Heterogeneity of Nonsyndromic Inherited Retinal Dystrophies
Ana Rodríguez-Muñoz, Elena Aller, Teresa Jaijo, Emilio González-García, Ana Cabrera-Peset, Roberto Gallego-Pinazo, Patricia Udaondo, David Salom, Gema García-García, José M. Millán

       
Germline Mutation in 1338 BRCA-Negative Chinese Hereditary Breast and/or Ovarian Cancer Patients: Clinical Testing with a Multigene Test Panel
Ava Kwong, Vivian Y. Shin, Jiawei Chen, Isabella W.Y. Cheuk, Cecilia Y.S. Ho, Chun H. Au, Karen K.L. Chan, Hextan Y.S. Ngan, Tsun L. Chan, James M. Ford, Edmond S.K. Ma

       
Analytical Performance of an Immunoprofiling Assay Based on RNA Models
Ian Schillebeeckx, Jon R. Armstrong, Jason T. Forys, Jeffrey Hiken, Jon Earls, Kevin C. Flanagan, Tiange Cui, Jarret I. Glasscock, David N. Messina, Eric J. Duncavage
Open Access

       
Ultrasensitive Detection of NOTCH1 c.7544_7545delCT Mutations in Chronic Lymphocytic Leukemia by Droplet Digital PCR Reveals High Frequency of Subclonal Mutations and Predicts Clinical Outcome in Cases with Trisomy 12
Catherine Hoofd, Steven J. Huang, Samuel Gusscott, Sonya Lam, Rachel Wong, Alexa Johnston, Susana Ben-Neriah, Christian Steidl, David W. Scott, Helene Bruyere, Tanya L. Gillan, Cynthia L. Toze, Alina S. Gerrie, Andrew P. Weng

       
Next-Generation Sequencing–Based Diagnosis of Unexplained Inherited Hemolytic Anemias Reveals Wide Genetic and Phenotypic Heterogeneity
Manu Jamwal, Anu Aggarwal, Arindam Palodhi, Prashant Sharma, Deepak Bansal, Amita Trehan, Pankaj Malhotra, Arindam Maitra, Reena Das

       
Feasibility of Combined Detection of Gene Mutations and Fusion Transcripts in Bone Marrow Trephines from Leukemic Neoplasms
Stephan Bartels, Britta Hasemeier, Julia Vogtmann, Elisa Schipper, Guntram Büsche, Jerome Schlue, Hans Kreipe, Ulrich Lehmann