Clinical Education Center

Authors: Rosenthal SH, Gerasimova A, Ma C, Li HR, Grupe A, Chong H, Acab A, Smolgovsky A, Owen R, Elzinga C, Chen R, Sugganth D, Freitas T, Graham J, Champion K, Bhattacharya A, Racke F, Lacbawan F.

Analytical validation and performance characteristics of a 48-gene next-generation sequencing panel for detecting potentially actionable genomic alterations in myeloid neoplasms

Specialties: Oncology

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Authors: Wang JC, Radcliff J, Coe SJ, Mahon LW.

Effects of platforms, size filter cutoffs, and targeted regions of cytogenomic microarray on detection of copy number variants and uniparental disomy in prenatal diagnosis: Results from 5026 pregnancies.

Specialties: Genetics, Women's Health/OB/GYN

Authors: Hemmat M, Rumple MJ, Mahon LW, Morrow M, Zach T, Anguiano A, Elnaggar MM, Wang BT, Boyar FZ

CMA analysis identifies homozygous deletion of MCPH1 in 2 brothers with primary Microcephaly-1.

Specialties: Genetics, Neurology, Pediatrics

Authors: Wang JC, Mahon LW, Ross LP, Anguiano A, Owen R, Boyar FZ

Enrichment of small pathogenic deletions at chromosome 9p24.3 and 9q34.3 involving DOCK8, KANK1, EHMT1 genes identified by using high-resolution oligonucleotide-single nucleotide polymorphism array analysis

Specialties: Genetics

Quest Diagnostics Authors: Anguiano, A, Deming, A, Elnaggar, M, Hafezi, K, Hinman, L, Mahon, L, Ross, L, Sahoo, T, Wang, J
Authors: Sanchez-Lara P, Bruno Y, Bartley JA, Liehr T, Jones M

Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements.

Specialties: Genetics, Pathology, Laboratory Medicine

Quest Diagnostics Authors: Anguiano, A, Boyar, F, El, N, Haddadin, M, Hemmat, M, Kopita, A, Mahon, L, Owen, R, Ross, L, Sahoo, T, Strom, C, Wang, T, Wang, J
Authors: Randolph LM, Chase JM, Matas Aguilera MJ, Siles JL, Church JA, Hauser N, Shen JJ, Jones MC, Wierenga KJ, Jiang Z

Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility.

Specialties: Genetics, Pulmonology, Women's Health/OB/GYN

Authors: Van Der Pol B, Rao A, Nye MB, Chavoustie S, Ermel A, Kaplan C, Eisenberg D, Chan PA, Mena L, Pacheco S, Waites KB, Xiao L, Krishnamurthy S, Mohan R, Bertuzis R, McGowin CL, Arcenas R, Marlowe EM, Taylor SN.

Trichomonas vaginalis detection in urogenital specimens from symptomatic and asymptomatic men and women using the cobas TV/MG test

Specialties: Infectious Disease, Women's Health/OB/GYN

Authors: Pinto CN, Niles JK, Kaufman HW, Marlowe EM, Alagia D, Chi G, Van Der Pol B

Impact of the COVID-19 Pandemic on Chlamydia and Gonorrhea Screening in the US

Specialties: COVID-19, Infectious Disease, Women's Health/OB/GYN

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Authors: Cockerill FR, Wohlgemuth JG, Radcliff J, Sabol CE, Kapoor H, Dlott JS, Marlowe EM, Clarke NJ.

Evolution of Specimen Self-Collection in the COVID-19 Era: Implications for Population Health Management of Infectious Disease

Specialties: COVID-19, Infectious Disease

Authors: Kagan RM, Rogers AA, Borillo GA, Clarke NJ, Marlowe EM

Performance of unobserved self-collected nasal swabs for detection of SARS-CoV-2 by RT-PCR utilizing a remote specimen collection strategy.

Specialties: COVID-19, Infectious Disease

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Authors: Prince HE, Marlowe EM, Schwab DS.

Relationship between hepatitis C virus (HCV) IgG index values and quantitative HCV RNA results in HCV IgG-reactive serum samples

Specialties: Infectious Disease

Authors: Prince HE, Marlowe EM, Schwab DA.

Relationship between DiaSorin Liaison Treponema pallidum antibody indices and confirmatory assay results in the reverse syphilis testing algorithm

Specialties: Infectious Disease

Authors: Borillo GA, Kagan RM, Baumann RE, Fainstein BM, Umaru L, Li H-R, Kaufman HW, Clarke NJ, Marlowe EM

Pooling of Upper Respiratory Specimens Using a SARS-CoV-2 Real Time RT-PCR Assay Authorized for Emergency Use in Low Prevalence Populations for High-Throughput Testing

Specialties: COVID-19, Infectious Disease

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Authors: Prince HE, Givens TS, Lapé-Nixon M, Clarke NJ, Schwab DA, Batterman HJ, Jones RS, Meyer WA, Kapoor H, Rowland CM, Haji-Sheikhi F, Marlowe EM

Detection of SARS-CoV-2 IgG Targeting Nucleocapsid or Spike Protein by Four High Throughput Immunoassays Authorized for Emergency Use

Specialties: COVID-19, Infectious Disease

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Authors: Scott L, David A, Govender L, Furrer J, Rakgokong M, Waja Z, Martinson N, Eisenberg G, Marlowe E, Stevens W.

Performance of the Roche Cobas MTB Assay for the Molecular Diagnosis of Pulmonary Tuberculosis in a High HIV Burden Setting.

Specialties: Infectious Disease

Authors: Rogers AA, Baumann RE, Borillo GA, Kagan RM, Batterman HJ, Galdzicka M, Marlowe EM

Evaluation of Transport Media and Specimen Transport Conditions for the Detection of SARS-CoV-2 Using Real Time Reverse Transcription PCR

Specialties: COVID-19, Infectious Disease

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Authors: Van Der Pol B, Waites KB, Xiao L, Taylor SN, Rao A, Nye M, Chavoustie S, Ermel A, Kaplan C, Eisenberg D, Chan PA, Mena L, Pacheco S, Krishnamurthy S, Mohan R, Bertuzis R, McGowin CL, Arcenas R, Marlowe EM.

Mycoplasma genitalium detection in urogenital specimens from symptomatic and asymptomatic men and women using the cobas TV/MG test.

Specialties: Infectious Disease

Authors: Bao JR, Master RN, Jones RS, Clark RB, Moore EC, Shier KL.

Recovery and Its Dynamics of Filamentous Fungi from Clinical Specimen Cultures: An Extensive Study

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

Authors: Bi C, Clark RB, Master R, Kapoor H, Kroll MH, Salm AE, Meyer WA 3rd.

Retrospective Performance Analyses of over Two Million U.S. QuantiFERON Blood Sample Results

Specialties: Infectious Disease

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Authors: Jones RS, Shier KL, Master RN, Bao JR, Clark RB.

Current significance of the Mycobacterium chelonae-abscessus group.

Specialties: Infectious Disease

Authors: Jones RS, Shier KL, Master RN, Bao JR, Clark RB

Current Significance of the Mycobacterium chelonae-abscessus complex

Specialties: Infectious Disease

Authors: Bao JR, Master RN, Azad KN, Schwab DA, Clark RB, Jones RS, Moore EC, Shier KL

Rapid, Accurate Identification of Candida auris by Using a Novel MALDI-TOF Database (Library).

Specialties: Infectious Disease

Quest Diagnostics Authors: Batterman, HJ, Matud, J, Prince, H, Seaton, B

Chikungunya virus RNA and antibody testing at a National Reference Laboratory since the emergence of Chikungunya virus in the Americas.

Specialties: Infectious Disease, Pathology, Laboratory Medicine

Authors: Gudin J, Mehta N, McClure FL, Niles JK, Kaufman HW

Shorter Drug Testing Intervals Are Associated With Improved Drug Misuse Rates

Specialties: Toxicology/Pain Management

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Authors: McClure FL, Niles JK, Kaufman HW, Gudin J.

Drug Misuse and Hepatitis C Virus Infection Profiles for Three Generations of Patients Being Monitored for Prescription Drug Adherence.

Specialties: Toxicology/Pain Management

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Authors: McClure FL, Niles JK, Kaufman HW, Gudin J.

Concurrent Use of Opioids and Benzodiazepines: Evaluation of Prescription Drug Monitoring by a United States Laboratory

Specialties: Toxicology/Pain Management

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Authors: Motorykin I, Li H, Clarke NJ, McPhaul MJ, Wu Z.

Isotopic Peak Index, Relative Retention Time, and Tandem MS for Automated High Throughput IGF-1 Variants Identification in a Clinical Laboratory

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

Authors: Shiffman D, Louie JZ, Meigs JB, Devlin JJ, McPhaul MJ, Melander O.

An Insulin Resistance Score Improved Diabetes Risk Assessment in the Malmö Prevention Project-A Longitudinal Population-Based Study of Older Europeans

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

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Authors: Bril F, McPhaul MJ, Kalavalapalli S, Lomonaco R, Barb D, Gray ME, Shiffman D, Rowland CM, Cusi K.

Intact Fasting Insulin Identifies Nonalcoholic Fatty Liver Disease in Patients Without Diabetes

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

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Authors: Dhindsa S, Zhang N, McPhaul MJ, Wu Z, Ghoshal AK, Erlich EC, Mani K, Randolph GJ, Edwards JR, Mudd PA, Diwan A.

Association of Circulating Sex Hormones With Inflammation and Disease Severity in Patients With COVID-19

Specialties: Cardiology, COVID-19, Endocrinology, Diabetes & Metabolism, Infectious Disease

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Authors: Quynh N Nguyen K, Langevin RH, McPhaul MJ, Hashim IA.

Circulating macroprolactin exhibits molecular heterogeneity and is not exclusively an antibody complex

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

Authors: Colletti JD, Redor-Goldman MM, Pomperada AE, Ghoshal AK, Wu WW, McPhaul MJ, Clarke NJ.

Sample Multiplexing: Increased Throughput for Quantification of Total Testosterone in Serum by Liquid Chromatography-Tandem Mass Spectrometry

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

Authors: Fragala MS, Kaufman HW, Meigs JB, Niles JK, McPhaul MJ

Consequences of the COVID-19 Pandemic: Reduced Hemoglobin A1c Diabetes Monitoring

Specialties: COVID-19, Endocrinology, Diabetes & Metabolism, Infectious Disease

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Authors: Meigs JB, Porneala B, Leong A, Shiffman D, Devlin JJ, McPhaul MJ.

Simultaneous Consideration of HbA 1c and Insulin Resistance Improves Risk Assessment in White Individuals at Increased Risk for Future Type 2 Diabetes

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

Authors: Shiffman D, Louie JZ, Devlin JJ, Knowles JW, McPhaul MJ

Gaps in Dyslipidemia Care Among Working-Aged Individuals With Employer-Sponsored Health Care.

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

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Authors: Refetoff S, Scherberg N, Yuan C, Wu W, Wu Z, McPhaul MJ.

Free thyroxine concentrations in sera of individuals with Familial Dysalbuminemic Hyperthyroxinemia: a comparison of three methods of measurement.

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

Authors: Bril F, McPhaul MJ, Caulfield MP, Clark VC, Soldevilla-Pico C, Firpi-Morell RJ, Lai J, Shiffman D, Rowland CM, Cusi K.

Performance of Plasma Biomarkers and Diagnostic Panels for Nonalcoholic Steatohepatitis and Advanced Fibrosis in Patients With Type 2 Diabetes.

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism, Gastroenterology, Internal Medicine

Authors: Wu Z, Sanders H, Motorykin I, Caulfield MP, McPhaul MJ

Detection of Insulin-Like Growth Factor 1 Variants by Mass Spectrometry: Results from a Clinical Reference Laboratory.

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

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Authors: Dichtel LE, Schorr M, Loures de Assis C, Rao EM, Sims JK, Corey KE, Kohli P, Sluss PM, McPhaul MJ, Miller KK.

Plasma Free Cortisol in States of Normal and Altered Binding Globulins: Implications for Adrenal Insufficiency Diagnosis.

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism, Gastroenterology

Authors: Tang A, Rosenfeld CR, Mikhael M, McPhaul MJ, Koch JD.

Adrenal insufficiency in neonates undergoing cardiopulmonary bypass and postoperative hypothalamic-pituitary-adrenal function after prophylactic glucocorticoids.

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism, Pediatrics, Women's Health/OB/GYN

Authors: Bril F, McPhaul MJ, Caulfield MP, Castille JM, Poynard T, Soldevila-Pico C, Clark VC, Firpi-Morell RJ, Lai J, Cusi K.

Performance of the SteatoTest, ActiTest, NashTest and FibroTest in a multiethnic cohort of patients with type 2 diabetes mellitus.

Specialties: Endocrinology, Diabetes & Metabolism

Authors: Abbasi F, Shiffman D, Tong CH, Devlin JJ, McPhaul MJ.

Insulin Resistance Probability Scores for Apparently Healthy Individuals.

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

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Authors: Shiffman D, Tong CH, Rowland CM, Devlin JJ, Meigs JB, McPhaul MJ

Elevated Hemoglobin A1c Is Associated With Incident Diabetes Within 4 Years Among Normoglycemic, Working-age Individuals in an Employee Wellness Program

Specialties: Endocrinology, Diabetes & Metabolism

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Authors: Bril F, Millán L, Kalavalpalli S, McPhaul MJ, Caulfield MP, Martinez-Arranz I, Alonso C, Ortiz Betes P, Mato JM, Cusi K.

Use of a Metabolomic Approach to Non-invasively Diagnose Nonalcoholic Fatty Liver Disease in Patients with Type 2 Diabetes Mellitus.

Specialties: Endocrinology, Diabetes & Metabolism

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Authors: Hawkes CP, Grimberg A, Kenny LC, Kiely M, Hourihane JOB, Irvine AD, McPhaul MJ, Caulfield MP, Zemel BS, Murray DM.

The relationship between IGF-I and -II concentrations and body composition at birth and over the first 2 months.

Specialties: Cardiology, Pediatrics

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Authors: Hawkes CP, Murray DM, Kenny LC, Kiely M, O'B Hourihane J, Irvine AD, Wu Z, Argon Y, Reitz RE, McPhaul MJ, Grimberg A.

Correlation of Insulin-Like Growth Factor-I and -II Concentrations at Birth Measured by Mass Spectrometry and Growth from Birth to Two Months.

Specialties: Endocrinology, Diabetes & Metabolism

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Authors: Bonert V, Carmichael J, Wu Z, Mirocha J, Perez DA, Clarke NJ, Reitz RE, McPhaul MJ, Mamelak A

Discordance between mass spectrometry and immunometric IGF-1 assay in pituitary disease: a prospective study.

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

Authors: Leong A, Daya N, Porneala B, Devlin JJ, Shiffman D, McPhaul MJ, Selvin E, Meigs JB

Prediction of Type 2 Diabetes by Hemoglobin A1c in Two Community-Based Cohorts.

Specialties: Endocrinology, Diabetes & Metabolism

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Authors: Peechakara S, Bena J, Clarke NJ, McPhaul MJ, Reitz RE, Weil RJ, Recinos P, Kennedy L, Hamrahian AH

Total and free cortisol levels during 1 μg, 25 μg, and 250 μg cosyntropin stimulation tests compared to insulin tolerance test: results of a randomized, prospective, pilot study.

Specialties: Endocrinology, Diabetes & Metabolism

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Authors: Ahmad Z, Xing C, Panach K, Kittler R, McPhaul MJ, Wilson JD

Identification of the Underlying Androgen Receptor Defect in the Dallas Reifenstein Family

Specialties: Endocrinology, Diabetes & Metabolism

Authors: Nikita ME, Jiang W, Cheng SM, Hantash FM, McPhaul MJ, Newbury RO, Phillips SA, Reitz RE, Waldman FM, Newfield RS

Mutational Analysis in Pediatric Thyroid Cancer and Correlations with Age, Ethnicity, and Clinical Presentation.

Specialties: Oncology, Pediatrics

Quest Diagnostics Authors: Chen, Z, Kaufman, HW, McPhaul, MJ
Authors: Fonseca VA

Surge in newly identified diabetes among medicaid patients in 2014 within medicaid expansion States under the affordable care act.

Specialties: Endocrinology, Diabetes & Metabolism, Health Information Technology, Oncology

Quest Diagnostics Authors: Caulfield, MP, Clarke, NJ, McPhaul, MJ, Reitz, R
Authors: Goldman, Mildred M. BS, CLS; Viec, Khanh V. BS;

The Measurement of 3-Epimer 25-Hydroxyvitamin D by Mass Spectrometry in Clinical Specimens Detects Inconsequential Levels in Adult Subjects

Specialties: Endocrinology, Diabetes & Metabolism, Endocrinology, Diabetes & Metabolism, General Health and Wellness, Internal Medicine, Pathology, Laboratory Medicine, Pediatrics

Authors: Meng H and Xu W

Clinical Molecular Genetic Laboratory Practice, Where We Stand in 2018

Specialties: Clinical and Lab healthcare professionals, Genetics

Authors: Rabinowitz NZ, Yokoyama JS, Bright AR, Lee SE, Fong JC, Karydas A, Bonham LW, Karbassi ID, Pribadi M, Meservey MA, Gallen M, Ramos EM, Liaquat K, Hoffman C, Krasner M, Dodge W, Rosen HJ, Boxer AL, Geschwind MD, Rankin KP, Coppola G, Miller BL, Higgins JJ

Frequency of frontotemporal dementia gene variants in C9ORF72, MAPT, and GRN in academic versus commercial laboratory cohorts

Specialties: Genetics, Geriatrics/Age Management, Neurology

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Quest Diagnostics Authors: Fischer, M, Kosoy, O, Laven, J, Lindsey, N, Messenger, S, Prince, H, Staples, J

Chikungunya virus infections among travelers-United States, 2010-2013.

Specialties: Infectious Disease, Internal Medicine

Authors: Havens PL, Stephensen CB, Van Loan MD, Schuster GU, Woodhouse LR, Flynn PM, Gordon CM, Pan CG, Rutledge B, Harris DR, Price G, Baker A, Meyer WA 3rd, Wilson CM, Hazra R, Kapogiannis BG, Mulligan K;

Vitamin D3 Supplementation Increases Spine Bone Mineral Density in Adolescents and Young Adults With Human Immunodeficiency Virus Infection Being Treated With Tenofovir Disoproxil Fumarate: A Randomized, Placebo-Controlled Trial.

Specialties: Infectious Disease, Pediatrics, Rheumatology/Immunology/Allergy

Authors: Levin MJ, Huang S, Moscicki AB, Song LY, Read JS, Meyer WA, Saah AJ, Richardson K, Weinberg A; IMPAACT P1085 Protocol Team.

Four-year persistence of type-specific immunity after quadrivalent human papillomavirus vaccination in HIV-infected children: Effect of a fourth dose of vaccine.

Specialties: Infectious Disease, Pediatrics, Rheumatology/Immunology/Allergy

Authors: Tassiopoulos K, Huo Y, Braun J, Williams PL, Smith R, Aschengrau A, Nichols S, Hazra R, Meyer WA, Knapp K, Deygoo NS, Seage Iii GR.

Blood lead levels and neurodevelopmental function in perinatally HIV-exposed, uninfected children in a US-based longitudinal cohort study.

Specialties: Infectious Disease, Neurology, Pediatrics, Toxicology/Pain Management

Authors: Levin MJ, Huang S, Moscicki AB, Song LY, Read JS, Meyer WA, Saah AJ, Richardson K, Weinberg A

Four-Year Persistence of Type-Specific Immunity After Administration of Quadrivalent Human Papillomavirus Vaccine to HIV-infected Children: Effect of a Fourth Dose of Vaccine

Specialties: Infectious Disease, Pediatrics

Authors: Melvin AJ, Montepiedra G, Aaron L, Meyer WA 3rd, Spiegel HM, Borkowsky W, Abzug MJ, Best BM, Crain MJ, Borum PR, Graham B, Anthony P, Shin K, Siberry GK; P1063 Study Team.

Safety and efficacy of atorvastatin in HIV-infected children and youth with hyperlipidemia.

Specialties: Cardiology, Infectious Disease, Pediatrics

Authors: Kaufman HW, Bull-Otterson L, Meyer III WA, Huang X, Doshani M, Thompson WW, Osinubi A, Khan MA, Harris A, Gupta N, Van Handel M, Wester C, Mermin J, Nelson N

Decreases in Hepatitis C Testing and Treatment During the COVID-19 Pandemic

Specialties: COVID-19, Infectious Disease

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Authors: Harvey RA, Rassen JA, Kabelac CA, Turenne W, Leonard S, Klesh R, Meyer III WA, Kaufman HW, Anderson S, Cohen O, Petkov VI, Cronin KA, VanDyke AL, Lowy DR, Sharpless NE, Penberthy LT

Association of SARS-CoV-2 Seropositive Antibody Test With Risk of Future Infection

Specialties: COVID-19, Infectious Disease

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Authors: Harvey RA, Rassen JA, Kabelac CA, Turenne W, Leonard S, Klesh R, Meyer WA 3rd, Kaufman HW, Anderson S, Cohen O, Petkov VI, Cronin KA, Van Dyke AL, Lowy DR, Sharpless NE, Penberthy LT.

Association of SARS-CoV-2 Seropositive Antibody Test With Risk of Future Infection

Specialties: COVID-19, Infectious Disease

Authors: Bajema KL, Wiegand RE, Cuffe K, Patel SV, Iachan R, Lim T, Lee A, Moyse D, Havers FP, Harding L, Fry AM, Hall AJ, Martin K, Biel M, Deng Y, Meyer WA 3rd, Mathur M, Kyle T, Gundlapalli AV, Thornburg NJ, Petersen LR, Edens C.

Estimated SARS-CoV-2 Seroprevalence in the US as of September 2020

Specialties: COVID-19, Infectious Disease

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Authors: Kaufman HW, Chen Z, Meyer WA 3rd, Wohlgemuth JG.

Insights from Patterns of SARS-CoV-2 Immunoglobulin G Serology Test Results from a National Clinical Laboratory, United States, March-July 2020

Specialties: COVID-19, Infectious Disease, Rheumatology/Immunology/Allergy

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Authors: Miron PM, Fang M.

The Evolving Clinical Testing Landscape of Genomic Aberrations in Solid Tumors and Hematological Malignancies - Insights From Evidence-Based Reviews for B-ALL and Breast, Brain, and Renal Cell Neoplasia

Specialties: Genetics, Oncology

Authors: Saini NY, Cerny J, Furtado VF, Desmond A, Zhou Z, Raffel G, Puthawala I, Bednarik J, Shanahan L, Miron PM, Woda B, Ramanathan M, Nath R.

Elderly do benefit from induction chemotherapy: High dose mitoxantrone-based ("5 + 1") induction chemotherapy regimen in newly diagnosed acute myeloid leukemia.

Specialties: Geriatrics/Age Management, Oncology

Authors: Mora S, Caulfield MP, Wohlgemuth J, Chen Z, Superko HR, Rowland CM, Glynn RJ, Ridker PM, Krauss RM

Atherogenic Lipoprotein Subfractions Determined by Ion Mobility and First Cardiovascular Events After Random Allocation to High-Intensity Statin or Placebo: The Justification for the Use of Statins in Prevention: An Intervention Trial Evaluating Rosuvastatin (JUPITER) Trial.

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

Quest Diagnostics Authors: Moore, A
Authors: Ekins S, Litterman NK, Arnold RJ, Burgess RW, Freundlich JS, Gray SJ, Langley B, Willis DE, Notterpek L, Pleasure D, Sereda MW

A brief review of recent Charcot-Marie-Tooth research and priorities.

Specialties: Infectious Disease, Neurology, Pathology, Laboratory Medicine

Authors: Shiffman D, Louie JZ, Devlin JJ, Rowland CM, Mora S

Concordance of Cardiovascular Risk Factors and Behaviors in a Multiethnic US Nationwide Cohort of Married Couples and Domestic Partners

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

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Authors: Shmukler BE, Rivera A, Bhargava P, Nishimura K, Kim EH, Hsu A, Wohlgemuth JG, Morton J, Snyder LM, De Franceschi L, Rust MB, Hubner CA, Brugnara C, Alper SL.

Genetic disruption of KCC cotransporters in a mouse model of thalassemia intermedia.

Specialties: Oncology

Authors: Rivera A, Vandorpe DH, Shmukler BE, Andolfo I, Iolascon A, Archer NM, Shabani E, Auerbach M, Hamerschlak N, Morton J, Wohlgemuth JG, Brugnara C, Snyder LM, Alper SL.

Erythrocyte ion content and dehydration modulate maximal Gardos channel activity in KCNN4 V282M/+ Hereditary Xerocytosis (HX) red cells.

Specialties: General Health and Wellness, Genetics

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Authors: Maron JL, Kingsmore SF, Wigby K, Chowdhury S, Dimmock D, Poindexter B, Suhrie K, Vockley J, Diacovo T, Gelb BD, Stroustrup A, Powell CM, Trembath A, Gallen M, Mullen TE, Tanpaiboon P, Reed D, Kurfiss A, Davis JM.

Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study

Specialties: Genetics, Neurology

Authors: Prior TW, Bayrak-Toydemir P, Lynnes TC, Mao R, Metcalf JD, Muralidharan K, Iwata-Otsubo A, Pham HT, Pratt VM, Qureshi S, Requesens D, Shen J, Vetrini F, Kalman L.

Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A Genetic Testing Reference Materials Coordination Program Collaborative Project

Specialties: Neurology

Authors: Reyhan I, Zhokov OS, Lagier R, Bridforth RF, Williams GJ, Popov JM, Naides SJ, Reiff A.

Prevalence and significance of serum 14-3-3η in juvenile idiopathic arthritis

Specialties: Rheumatology/Immunology/Allergy

Authors: Dalrymple A, Tuttle P, Feller L, Zhukov O, Lagier R, Popov J, Naides S, Moore T.

14-3-3 η Protein as a Potential Biomarker in Juvenile Idiopathic Arthritis

Specialties: Infectious Disease

Authors: C, Wong E, Dlott J, Racke F.

The Rapid Bethesda Assay Is Equivalent to the Standard Bethesda Assay for Detection of Factor IX Inhibitors in Patients With Severe Haemophilia B

Specialties: Hematology/Hemostasis/Thrombosis

Authors: Amatuni GS, Sciortino S, Currier RJ, Naides SJ, Church JA, Puck JM.

Reference Intervals for Lymphocyte Subsets in Preterm and Term Neonates Without Immune Defects.

Specialties: Pediatrics, Rheumatology/Immunology/Allergy

Authors: Amatuni GS, Currier RJ, Church JA, Bishop T, Grimbacher E, Nguyen AA, Agarwal-Hashmi R, Aznar CP, Butte MJ, Cowan MJ, Dorsey MJ, Dvorak CC, Kapoor N, Kohn DB, Markert ML, Moore TB, Naides SJ, Sciortino S, Feuchtbaum L, Koupaei RA, Puck JM.

Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017.

Specialties: Infectious Disease, Oncology, Pediatrics

Authors: Puttaraksa K, Pirttinen H, Karvonen K, Nykky J, Naides SJ, Gilbert L.

Parvovirus B19V Non-structural Protein NS1 Induces dsDNA Autoantibodies and End Organ Damage in Non-autoimmune Mice.

Specialties: Infectious Disease, Rheumatology/Immunology/Allergy

Authors: Naides SJ.

The role of the laboratory in the expanding field of neuroimmunology: Autoantibodies to neural targets.

Specialties: Neurology

Authors: Karlon WJ, Naides SJ, Crosson JT, Ansari MQ

Variability in Testing for Antineutrophil Cytoplasmic Antibodies: A Survey of Participants in the College of American Pathologists Proficiency Testing Program.

Specialties: Pathology, Laboratory Medicine, Rheumatology/Immunology/Allergy

Authors: Regelmann MO, Kamboj MK, Miller BS, Nakamoto JM, Sarafoglou K, Shah S, Stanley TL, Marino R

Adrenoleukodystrophy: Guidance for Adrenal Surveillance in Males Identified by Newborn Screen.

Specialties: Endocrinology, Diabetes & Metabolism, Neurology, Pediatrics

Authors: Adgent MA, Umbach DM, Zemel BS, Kelly A, Schall JI, Ford EG, James K, Darge K, Botelho JC, Vesper HW, Chandler DW, Nakamoto JM, Rogan WJ, Stallings VA.

A longitudinal study of estrogen-responsive tissues and hormone concentrations in infants fed soy formula.

Specialties: Endocrinology, Diabetes & Metabolism, Pediatrics

Quest Diagnostics Authors: Nakamoto, JM
Authors: Blatt AJ, Kaufman HW.

Gaps in diabetes screening during pregnancy and postpartum.

Specialties: Endocrinology, Diabetes & Metabolism, Hematology/Hemostasis/Thrombosis, OB/GYNs, Oncology, PCPs

Authors: Rosenthal SH, Sun W, Zhang K, Liu Y, Nguyen Q, Gerasimova A, Nery C, Cheng L, Castonguay C, Hiller E, Li J, Elzinga C, Wolfson D, Smolgovsky A, Chen R, Buller-Burckle A, Catanese J, Grupe A, Lacbawan F,Owen R

Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing

Specialties: Oncology

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Authors: Kaufman HW, Chen Z, Niles JK, Fesko YA.

Changes in Newly Identified Cancer Among US Patients From Before COVID-19 Through the First Full Year of the Pandemic

Specialties: COVID-19, Infectious Disease, Oncology

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Authors: Niles JK, Kaufman HW, Peterman TA, Tao G, Gift TL, Alagia DP.

Chlamydia trachomatis and Neisseria gonorrhoeae in Pregnancy: Trends in United States, 2010-2018

Specialties: Infectious Disease, Women's Health/OB/GYN

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Authors: Niles JK, Karnes HE, Dlott JS, Kaufman HW.

Association of ABO/Rh with SARS-CoV-2 positivity: The role of race and ethnicity in a female cohort

Specialties: COVID-19, Hematology/Hemostasis/Thrombosis, Infectious Disease, Oncology

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Authors: Niles JK, Gudin J, Radcliff J, Kaufman HW

The Opioid Epidemic Within the COVID-19 Pandemic: Drug Testing in 2020

Specialties: COVID-19, Infectious Disease, Toxicology/Pain Management

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Authors: Kaufman HW, Niles JK, Nash DB

Disparities in SARS-CoV-2 Positivity Rates: Associations with Race and Ethnicity

Specialties: COVID-19, Infectious Disease

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Authors: Kaufman HW, Niles JK, Kroll MH, Bi C, Holick MF

SARS-CoV-2 positivity rates associated with circulating 25-hydroxyvitamin D levels

Specialties: COVID-19, Endocrinology, Diabetes & Metabolism, Infectious Disease

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Authors: Kaufman HW, Gift TL, Kreisel K, Niles JK, Alagia DP.

Chlamydia and Gonorrhea: Shifting Age-Based Positivity Among Young Females, 2010-2017

Specialties: Infectious Disease, Women's Health/OB/GYN

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Authors: Kaufman HW, Chen Z, Niles J, Fesko Y

Changes in the Number of US Patients With Newly Identified Cancer Before and During the Coronavirus Disease 2019 (COVID-19) Pandemic

Specialties: COVID-19, Infectious Disease, Oncology

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Authors: Robert J. Wong, Tram Tran, Harvey Kaufman, Justin Niles, Robert Gish

Geographic regions with high prevalence of nonalcoholic steatohepatitis-related hepatic fibrosis are also observed to demonstrate high prevalence of metabolic disease risk factors and low consumption of fruits and vegetables

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

Authors: Wong RJ, Tran T, Kaufman H, Niles J, Gish R.

Increasing metabolic co-morbidities are associated with higher risk of advanced fibrosis in nonalcoholic steatohepatitis.

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

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Authors: Guy C, Haji-Sheikhi F, Rowland CM, Anderson B, Owen R, Lacbawan FL, Alagia DP

Prenatal cell-free DNA screening for fetal aneuploidy in pregnant women at average or high risk: Results from a large US clinical laboratory.

Specialties: Genetics, Women's Health/OB/GYN

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Authors: Assi R, Mahfouz R, Owen R, Gunthorpe M, Chehab FF, Bazarbachi A.

PAX5, NOTCH3, CBFB, and ACD drive an activated RAS pathway and monosomy 7 to B-ALL and AML in donor cell leukemia.

Specialties: Genetics, Oncology

Authors: Marlise R. Luskin, Marie N. Discenza, Sarah Rae Easter, Paola Dal Cin, Renius Owen, Bernard Ilagan, Meredith Masiello, Andrew A. Lane

Maternal iAMP21 acute lymphoblastic leukemia detected on prenatal cell-free DNA genetic screening

Specialties: Hematology/Hemostasis/Thrombosis, Oncology, Women's Health/OB/GYN

Authors: Luskin MR. Discenza MN, Easter SR, Dal Cin P, Owen R, Ilagan B, Masiello M, Lane AA

Maternal iAMP21 Acute Lymphoblastic Leukemia Detected on Prenatal Cell-Free DNA Genetic Screening

Specialties: Women's Health/OB/GYN

Authors: Ilagan BJ, Maxwell MD, Fisher BM, Milanovich J, Owen R, Anderson B, Zhang K, Strom CM

Maternal Chromosome Xp Deletion Identified by Prenatal Cell-free DNA Screening.

Specialties: Genetics, Women's Health/OB/GYN

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Authors: Strom CM, Anderson B, Tsao D1, Zhang K, Liu Y, Livingston K, Elzinga C2, Evans M, Nguyen Q, Wolfson D, Rowland C, Kolacki P, Maxwell M, Wang JC, Rabin D, Catanese J, Owen R, Braastad C, Sun W.

Improving the Positive Predictive Value of Non-Invasive Prenatal Screening (NIPS).

Specialties: Genetics, Women's Health/OB/GYN

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Authors: Strom CM, Maxwell MD, Owen R

Improving the Accuracy of Prenatal Screening with DNA Copy-Number Analysis

Specialties: Genetics, Women's Health/OB/GYN

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Authors: Vasale J, Boyar F, Jocson M, Sulcova V, Chan P, Liaquat K, Hoffman C, Meservey M, Chang I, Tsao D, Hensley K, Liu Y, Owen R, Braastad C, Sun W, Walrafen P, Komatsu J, Wang JC, Bensimon A, Anguiano A, Jaremko M, Wang Z, Batish S, Strom C, Higgins J

Molecular combing compared to Southern blot for measuring D4Z4 contractions in FSHD

Specialties: Neurology