This issue of Advances in Molecular Pathology will provide a comprehensive review of the most current practices, trends, and developments in the field of Molecular Pathology. Publishing on an annual basis, the volume will be divided into 7 sections: Genetics, Hematopathology, Infectious Disease, Pharmacogenomics, Informatics, Solid tumors, and Identity/HLA. Led by Dr. Gregory Tsongalis of Dartmouth University, a team of experienced pathologists from institutions across the country oversee annual topic and expert author selection.
1. Cover image - p. i 2. Title page - p. i 3. Table of Contents - p. i 4. Copyright - p. ii 5. Editorial Board - p. iii 6. Contributors - p. v 7. Preface - p. xv 8. The SARS-CoV-2 Pandemic - p. xvi 9. The 2020 Wild, Wild West of Diagnostics - p. 1 10. 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) - p. 5 11. Laboratory Testing of Severe Acute Respiratory Virus Coronavirus 2: A New York Institutional Experience - p. 13 12. Genetics - p. 19 13. Precision Therapies in Neurodevelopmental Disorders: Update on Gene Therapies - p. 21 14. EpiSigns: DNA Methylation Signatures in Mendelian Neurodevelopmental Disorders as a Diagnostic Link Between a Genotype and Phenotype - p. 29 15. Hematopathology - p. 39 16. Molecular Pathways and Potential for Targeted Therapies in the Treatment of Early T-cell Precursor Acute Lymphoblastic Leukemia - p. 41 17. Molecular Genomic Advances in Chronic Myelomonocytic Leukemia - p. 49 18. Erdheim-Chester Disease: A Review of Molecular Genetic and Clinical Features - p. 57 19. Utility of Fluorescence In Situ Hybridization in Clinical and Research Applications - p. 65 20. Germline Mutations with Predisposition to Myeloid Neoplasms - p. 77 21. Infectious Disease - p. 85 22. The Role of Human Immunodeficiency Virus Molecular Diagnostics in Ending the Epidemic - p. 97 23. Pharmacogenomics - p. 105 24. Pharmacogenomics of Drug-Induced Liver Injury - p. 107 25. Bringing Pharmacogenetics to Prescribers: Progress and Challenges - p. 117 26. Precision Medicine Using Pharmacogenomic Panel-Testing: Current Status and Future Perspectives - p. 131 27. Informatics - p. 142 28. Artificial Intelligence in the Genetic Diagnosis of Rare Disease - p. 143 29. Building Infrastructure and Workflows for Clinical Bioinformatics Pipelines - p. 157 30. Solid Tumors - p. 167 31. Microsatellite Instability Testing and Therapy Implications - p. 169 32. Identity/HLA - p. 198 33. HLA Typing by Next-Generation Sequencing: Lessons Learned and Future Applications - p. 199 34. HLA and Autoimmune Disease - p. 207
This issue of Advances in Molecular Pathology will provide a comprehensive review of the most current practices, trends, and developments in the field of Molecular Pathology. Publishing on an annual basis, the volume will be divided into 7 sections: Genetics, Hematopathology, Infectious Disease, Pharmacogenomics, Informatics, Solid tumors, and Identity/HLA. Led by Dr. Gregory Tsongalis of Dartmouth University, a team of experienced pathologists from institutions across the country oversee annual topic and expert author selection.
1. Cover image - p. i 2. Title page - p. i 3. Table of Contents - p. i 4. Copyright - p. ii 5. Editorial Board - p. iii 6. Contributors - p. v 7. Preface - p. xv 8. The SARS-CoV-2 Pandemic - p. xvi 9. The 2020 Wild, Wild West of Diagnostics - p. 1 10. 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) - p. 5 11. Laboratory Testing of Severe Acute Respiratory Virus Coronavirus 2: A New York Institutional Experience - p. 13 12. Genetics - p. 19 13. Precision Therapies in Neurodevelopmental Disorders: Update on Gene Therapies - p. 21 14. EpiSigns: DNA Methylation Signatures in Mendelian Neurodevelopmental Disorders as a Diagnostic Link Between a Genotype and Phenotype - p. 29 15. Hematopathology - p. 39 16. Molecular Pathways and Potential for Targeted Therapies in the Treatment of Early T-cell Precursor Acute Lymphoblastic Leukemia - p. 41 17. Molecular Genomic Advances in Chronic Myelomonocytic Leukemia - p. 49 18. Erdheim-Chester Disease: A Review of Molecular Genetic and Clinical Features - p. 57 19. Utility of Fluorescence In Situ Hybridization in Clinical and Research Applications - p. 65 20. Germline Mutations with Predisposition to Myeloid Neoplasms - p. 77 21. Infectious Disease - p. 85 22. The Role of Human Immunodeficiency Virus Molecular Diagnostics in Ending the Epidemic - p. 97 23. Pharmacogenomics - p. 105 24. Pharmacogenomics of Drug-Induced Liver Injury - p. 107 25. Bringing Pharmacogenetics to Prescribers: Progress and Challenges - p. 117 26. Precision Medicine Using Pharmacogenomic Panel-Testing: Current Status and Future Perspectives - p. 131 27. Informatics - p. 142 28. Artificial Intelligence in the Genetic Diagnosis of Rare Disease - p. 143 29. Building Infrastructure and Workflows for Clinical Bioinformatics Pipelines - p. 157 30. Solid Tumors - p. 167 31. Microsatellite Instability Testing and Therapy Implications - p. 169 32. Identity/HLA - p. 198 33. HLA Typing by Next-Generation Sequencing: Lessons Learned and Future Applications - p. 199 34. HLA and Autoimmune Disease - p. 207