November 2020

Advances in Molecular Pathology
• Gregory J. Tsongalis
Published in issue: November 2020
i

Copyright
Published in issue: November 2020
ii

Editorial Board
Published in issue: November 2020
iii

Contributors
Published in issue: November 2020
v-viii

Contents
Published in issue: November 2020
ix-xiv

Molecular Pathology: The Laboratory-Developed Test
• Gregory J. Tsongalis
Published online: September 16, 2020
xv-xvi

The SARS-CoV-2 Pandemic

The 2020 Wild, Wild West of Diagnostics
• Gregory J. Tsongalis,
• Karen Kaul
Published online: August 14, 2020
p1-3

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)
• Wendy A. Wells,
• Michael T. Harhen,
• Michael S. Calderwood,
• ...
• Jonathan T. Huntington,
• Edward J. Merrens,
• Gregory J. Tsongalis
Published online: July 19, 2020
p5-11

Laboratory Testing of Severe Acute Respiratory Virus Coronavirus 2
A New York Institutional Experience
• Marie C. Smithgall,
• Susan Whittier,
• Helen Fernandes
Published online: July 19, 2020
p13-19

Genetics

Precision Therapies in Neurodevelopmental Disorders
Update on Gene Therapies
• Mohammed Uddin,
• Ahmad N. Abou Tayoun,
• Reem Kais Jan,
• Hosneara Akter,
• Danielle M. Andrade,
• Cyrus Boelman
Published online: September 09, 2020
p21-27

EpiSigns
DNA Methylation Signatures in Mendelian Neurodevelopmental Disorders as a Diagnostic Link Between a Genotype and Phenotype
• Jack Reilly,
• Jennifer Kerkhof,
• Bekim Sadikovic
Published online: September 16, 2020
p29-39

Hematopathology

Molecular Pathways and Potential for Targeted Therapies in the Treatment of Early T-cell Precursor Acute Lymphoblastic Leukemia
• Liam Donnelly,
• Juli-Anne Gardner,
• Joanna L. Conant,
• Katherine A. Devitt
Published online: September 16, 2020
p41-48

Molecular Genomic Advances in Chronic Myelomonocytic Leukemia
• Feras Ally,
• Michelle Afkhami
Published in issue: November 2020
p49-55

Erdheim-Chester Disease
A Review of Molecular Genetic and Clinical Features
• Ekrem Maloku,
• Eric Y. Loo
Published online: September 16, 2020
p57-64

Utility of Fluorescence In Situ Hybridization in Clinical and Research Applications
• Gail H. Vance,
• Wahab A. Khan
Published online: September 16, 2020
p65-75
Germline Mutations with Predisposition to Myeloid Neoplasms
• Yan Liu,
• Sheeja Pullarkat
Published online: September 16, 2020
p77-85

Infectious Disease

Molecular Diagnosis of Drug Resistance in Mycobacterium tuberculosis
Perspectives from a Tuberculosis-Endemic Developing Country
• Priti Kambli,
• Camilla Rodrigues
Published online: September 16, 2020
p87-95
The Role of Human Immunodeficiency Virus Molecular Diagnostics in Ending the Epidemic
• Justin Laracy,
• Jason Zucker
Published online: September 16, 2020
p97-105

Pharmacogenomics

Pharmacogenomics of Drug-Induced Liver Injury
• Ann K. Daly
Published online: September 16, 2020
p107-115

Bringing Pharmacogenetics to Prescribers
Progress and Challenges
• David L. Thacker,
• Jessica Savieo,
• Houda Hachad
Published online: September 16, 2020
p117-129

Precision Medicine Using Pharmacogenomic Panel-Testing
Current Status and Future Perspectives
• Cathelijne H. van der Wouden,
• Henk-Jan Guchelaar,
• Jesse J. Swen
Published online: September 16, 2020
p131-142
Open Access

Informatics

Artificial Intelligence in the Genetic Diagnosis of Rare Disease
• Kiely N. James,
• Sujal Phadke,
• Terence C. Wong,
• Shimul Chowdhury
Published online: September 16, 2020
p143-155

Building Infrastructure and Workflows for Clinical Bioinformatics Pipelines
• Sabah Kadri
Published online: September 16, 2020
p157-167

Solid Tumors

Microsatellite Instability Testing and Therapy Implications
• David B. Chapel,
• Lauren L. Ritterhouse
Published in issue: November 2020
p169-188

PIK3CA and Breast Cancer
New Insights and Therapeutic Strategies
• Andrea Ferreira-Gonzalez
Published in issue: November 2020
p189-198

Identity/HLA

HLA Typing by Next-Generation Sequencing
Lessons Learned and Future Applications
• Caleb Cornaby,
• Eric T. Weimer
Published in issue: November 2020
p199-205

HLA and Autoimmune Disease
• Samuel E. Weinberg,
• Lawrence J. Jennings
Published in issue: November 2020
p207-219