Analytical Validation and Performance Characteristics of a 48 Gene Next-generation Sequencing Panel for Detecting Potentially Actionable Genomic Alterations in Myeloid Neoplasms
A Novel De Novo KIF21A Variant in a Patient With Congenital Fibrosis of the Extraocular Muscles With a Syndromic CFEOM Phenotype
Antibody Affinity Maturation and Plasma IgA Associate With Clinical Outcome in Hospitalized COVID-19 Patients
Antimicrobial Resistance Patterns of Urinary Escherichia coli Among Outpatients in Washington State 2013 2017 Associations with Age and Sex
Arginine to Ornithine Ratio as a Diagnostic Marker in Patients With Positive Newborn Screening for Hyperargininemia
Assessing Comfort Level With Pediatric Skin Specimens Among Dermatopathologists and Pediatric Pathologists: A National Cross-sectional Survey
Assessment of the Association of Vitamin D Level With SARS CoV 2 Seropositivity Among Working Age Adults
Association of CETP Gene Variants with Atherogenic Dyslipidemia Among Thai Patients Treated with Statin
Association of Circulating Sex Hormones With Inflammation and Disease Severity in Patients With COVID-19
Biochemical Diagnosis of Acute Hepatic Porphyria Updated Expert Recommendations for Primary Care Physicians
CDK19-Related Disorder Results From Both Loss-of-Function and Gain-of-Function De Novo Missense Variants
Changes in Test Volumes During Coronavirus Disease 2019 (COVID-19): A Laboratory Stewardship Opportunity
Diagnostic Performance of Artificial Intelligence for Histologic Melanoma Recognition Compared to 18 International Expert Pathologists
Evolution of Specimen Self-Collection in the COVID-19 Era: Implications for Population Health Management of Infectious Disease
Expanding the Genotypic and Phenotypic Spectrum in a Diverse Cohort of 104 Individuals With Wiedemann-Steiner Syndrome
Heterozygous ANKRD17 loss of function variants cause a syndrome with intellectual disability speech delay and dysmorphism
High-Resolution Targeted Bisulfite Sequencing Reveals Blood Cell Type-Specific DNA Methylation Patterns in IL13 and ORMDL3
Model for Mitigation of Workplace Transmission of COVID-19 Through Population-Based Testing and Surveillance
Multifocal Langerhans Cell Histiocytosis: A Unique Presentation of Eosinophilic Granuloma With Intracranial Extension, Massive Lymphadenopathy, and Epstein-Barr Viral Infection in an Adolescent Female
Performance of Unobserved Self-collected Nasal Swabs for Detection of SARS-CoV-2 by RT-PCR Utilizing a Remote Specimen Collection Strategy.
Pharmacological Treatment of Severe Breathing Abnormalities in a Case of HNRNPU Epileptic Encephalopathy
Prenatal Diagnosis of Diencephalic-Mesencephalic Junction Dysplasia: Fetal Magnetic Resonance Imaging Phenotypes, Genetic Diagnoses, and Outcomes
Prognostic Implications of the Immune Tumor Microenvironment in Patients With Pancreatic and Gastrointestinal Neuroendocrine Tumors
Progressive Myoclonus Epilepsies-Residual Unsolved Cases Have Marked Genetic Heterogeneity Including Dolichol-Dependent Protein Glycosylation Pathway Genes
Radiotherapy Before or During Androgen-Deprivation Therapy Does Not Blunt the Exercise-Induced Body Composition Protective Effects in Prostate Cancer Patients: A Secondary Analysis of Two Randomized Controlled Trials
Relationship Between Hepatitis C Virus (HCV) IgG Index Values and Quantitative HCV RNA Results in HCV IgG-Reactive Serum Samples
Response to Brentuximab Vedotin Versus Physician’s Choice by CD30 Expression and Large Cell Transformation Status in Patients With Mycosis Fungoides: An ALCANZA Sub-Analysis
The Complete Genome Sequence of Listeria monocytogenes Strain S2542 and Expression of Selected Genes Under High-pressure Processing
Workplace Mental Health: Application of a Population Health Approach of Proactive Screening to Identify Risk and Engage in Care
Changes in Newly Identified Cancer Among US Patients From Before COVID-19 Through the First Full Year of the Pandemic
Isotopic Peak Index, Relative Retention Time, and Tandem MS for Automated High Throughput IGF-1 Variants Identification in a Clinical Laboratory
An Insulin Resistance Score Improved Diabetes Risk Assessment in the Malmö Prevention Project-A Longitudinal Population-Based Study of Older European
A Grammastola spatulata mechanotoxin-4 (GsMTx4)-sensitive cation channel mediates increased cation permeability in human hereditary spherocytosis of multiple genetic etiologies
Variant Re-interpretation in Survivors of Cardiac Arrest with Preserved Ejection Fraction (CASPER Registry) by Clinicians and Clinical Commercial Laboratories
A multi-center retrospective cohort study defines the spectrum of kidney pathology in Coronavirus 2019 Disease (COVID-19)
HMGA2-WIF1 Rearrangements Characterize a Distinctive Subset of Salivary Pleomorphic Adenomas With Prominent Trabecular (Canalicular Adenoma-like) Morphology
Trichomonas vaginalis detection in urogenital specimens from symptomatic and asymptomatic men and women using the cobas TV/MG test
Viral dynamics of acute SARS-CoV-2 infection and applications to diagnostic and public health strategies
Anti PF4 and Serotonin Release Assay SRA for Diagnosing Heparin induced Thrombocytopenia Thrombosis HIT HITT
Laboratory Testing in the Diagnosis and Management of Rheumatoid Arthritis (RA) and Psoriatic Arthritis (PsA)
Is it an Environmental Allergy? The Role of Serum IgE Testing in the Primary Care and Pediatric Setting
Sex Discordance, Chimerism, and Disorders of Sexual Development in Monochorionic Twins Conceived with Assisted Reproductive Technology
A Web-Based Educational Program to Support the Updated ACMG/ClinGen Technical Standards for Constitutional Copy Number Variant Classification
Comparison of Validated Neurological Outcome Instruments to Assess Myasthenia Gravis in Outpatients Receiving Long-Term Therapeutic Plasma Exchange: A Multicenter Quality Assessment Project
Customization of the ACMG/AMP Framework for Rett and Angelman-like Disorders Presents Unique Challenges
Developing a Streamlined and Sustainable Variant Curation Process: Experience From ClinGen’s Cardiomyopathy Variant Curation Expert Panel
Diagnostic Yield and Clinical Utility of Genetic Testing in Children with Seizure Onset After 2 Years of Age: An Update
Frequency of Pathogenic and Likely Pathogenic Variants in Breast and Ovarian Cancer Genes Identified in a 34-Gene Hereditary Multi-Cancer Panel at a Diagnostic Reference Laboratory
HTT CAG Repeat Length Variation in Huntington Disease (HD) Patients: Experience from a US Reference Laboratory
Next-Generation Sequencing Panels for Hereditary Hearing Loss Testing With Approaches for Difficult-to-Sequence Regions
Prenatal Theoretical Diagnostic Yield of a Rapid, Targeted Genetic Panel Designed for Critically Ill Pediatric Patients
Stimulated Copeptin Response to Arginine-Insulin Tolerance Test: A Novel Method to Assess Posterior Pituitary Function?
The First Report of the American Society for Apheresis Thrombotic Thrombocytopenic Purpura Multi-institutional Registry: 2019-2020
Cerebrospinal Fluid Aβ42, Total Tau, and Phosphorylated Tau in the Evaluation of Alzheimer’s Dementia: Experience From a Commercial Reference Laboratory
Evaluation of Heparin-induced Thrombocytopenia Before and during the COVID-19 Pandemic at a US National Reference Laboratory
Next-generation sequencing panels for hereditary hearing loss testing with approaches for difficult-to-sequence regions
Cerebrospinal Fluid Aβ42, Total Tau, and Phosphorylated Tau in the Evaluation of Alzheimer’s Dementia: Experience From a Commercial Reference Laboratory
Evaluation of Heparin-induced Thrombocytopenia Before and during the COVID-19 Pandemic at a US National Reference Laboratory
Highly atherogeneic lipid particles are associated with preeclampsia (Pre-E) in obese women with unexplained infertility who conceived during ovarian stimulation with intrauterine insemination (OS-IUI)
Measurement of Intact Insulin by Mass Spectrometry Identifies Nonalcoholic Fatty Liver Disease (NAFLD)
Comparison of Two EIA (Antigen) Methods and Culture in Detecting Campylobacter Species from Fecal Specimens
JRMC Medical Center and Quest Diagnostics team up to provide testing for Newark School System teachers and staff
