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Advances in molecular pathology. V.3, 2020 / edited by Gregory J. Tsongalis. -- Philadelphia, PA : Elsevier, 2020. – (63.1 /A244z /v.3)

Contents

Editorial Board, iii

Contributors, v

Preface: Molecular Pathology: The

Laboratory-Developed Test, xv

The SARS-CoV-2 Pandemic

The 2020 Wild, Wild West of Diagnostics, 1

Maintaining Laboratory Services in a Rural Academic Medical Center During the Severe Acute Respiratory Syndrome Coronavirus 2 Pandemic: What Worked and What Did Not (February 29-May 1, 2020), 5

Laboratory Testing of Severe Acute

Respiratory Virus Coronavirus 2: A New York Institutional Experience, 13

Genetics

Precision Therapies in Neurodevelopmental Disorders: Update on Gene Therapies, 21

EpiSigns: DNA Methylation Signatures in Mendelian Neurodevelopmental Disorders as a Diagnostic Link Between a Genotype and Phenotype, 29

Hematopathology

Molecular Pathways and Potential for Targeted Therapies in the Treatment of Early T-cell Precursor Acute Lymphoblastic Leukemia, 41

Molecular Genomic Advances in Chronic Myelomonocytic Leukemia, 49

Erdheim-Chester Disease: A Review of Molecular Genetic and Clinical Features, 57

Utility of Fluorescence In Situ Hybridization in Clinical and Research Applications, 65

Germline Mutations with Predisposition to Myeloid Neoplasms, 77

Infectious Disease

Molecular Diagnosis of Drug Resistance in Mycobacterium tuberculosis: Perspectives from a Tuberculosis-Endemic Developing Country, 87

The Role of Human Immunodeficiency Virus Molecular Diagnostics in Ending the Epidemic, 97

Pharmacogenomics

Pharmacogenomics of Drug-Induced Liver Injury, 107

Bringing Pharmacogenetics to Prescribers: Progress and Challenges, 117

Precision Medicine Using Pharmacogenomic Panel-Testing: Current Status and Future Perspectives, 131

Informatics

Artificial Intelligence in the Genetic Diagnosis of Rare Disease, 143

Building Infrastructure and Workflows for Clinical Bioinformatics Pipelines, 157

Solid Tumors

Microsatellite Instability Testing and Therapy Implications, 169

PIK3CA and Breast Cancer:. New Insights and Therapeutic Strategies, 189

Identity/HLA

HLA Typing by Next-Generation Sequencing: Lessons Learned and Future Applications,

HLA and Autoimmune Disease, 207