ARUP Journal Article Publications Archive—2020

The Institute for Clinical and Experimental Research® is focused on the development of new diagnostic assays in a wide range of disciplines. Researchers at the institute regularly publish in respected, peer-reviewed journals, give presentations at national and international organizations, author books and book chapters, and develop new tests.

Agarwal AM, Rets A.Laboratory Approach to Investigation of Anemia With a Focus on Pyruvate Kinase Deficiency.International Journal of Laboratory Hematology 2020;42 Suppl 1:107-112.

Anderson DR, Viau K, Botto LD, Pasquali M, Longo N. Clinical and biochemical outcomes of patients with medium-chain acyl-CoA dehydrogenase deficiency. Molecular Genetics and Metabolism 2020; 129(1):13-19.

Ardon O, Schmidt RL. Clinical Laboratory Employees' Attitudes Toward Artificial Intelligence. Laboratory Medicine 2020;51(6):649-654.

Babady E, Mathison BA. Parasites. AACC Learning Lab for Laboratory Medicine on NEJM Knowledge+ 2020;Online course.

Bahr TM, Lozano-Chinga M, Agarwal AM, Meznarich JA, Gerday E, Smoot JL, Taylor A, Christensen RD. Dizygotic Twins With Prolonged Jaundice and Microcytic, Hypochromic, Hemolytic Anemia With Pyropoikilocytosis. Blood Cells, Molecules and Diseases 2020;85:102462.

Bahr TM, Lozano-Chinga M, Agarwal AM, Meznarich JA, Yost CC, Li P, Reading NS, Prchal JT, Christensen RD. A Novel Variant in G6PD (c.1375C>G) Identified from a Hispanic Neonate with Extreme Hyperbilirubinemia and Low G6PD Enzymatic Activity. Neonatology 2020;117:532-535.

Bajaj A, Saraswat S, Freeke J, Barker A. Method of extraction and proteome profiling of mycobacteria using liquid chromatography‑high resolution mass spectrometry. SN Applied Sciences 2020;(2020) 2:1863.

Ballout RA, Dickerson C, Wick MJ, Al-Sweel N, Openshaw AS, Srivastava S, Swanson L, Bramswig NC, Kuechler A, Hong B, Fleming LR, Curry KT, Robertson SP, Andersen EF, El-Hattab AW. Int22h1/Int22h2-mediated Xq28 Duplication Syndrome: De Novo Duplications, Prenatal Diagnoses, and Additional Phenotypic Features. Human Mutation 2020;41(7):1238-1249.

Bennett JA, Ritterhouse LL, Furtado LV, Lastra RR, Pesci A, Newell JM, Burandt E, Kooreman L, Van de Vijver K, Krausz T, Felix A, Zannoni GF, Young RH, Oliva E. Female adnexal tumors of probable Wolffian origin: morphological, immunohistochemical, and molecular analysis of 15 cases. Modern Pathology 2020;33(4):734-747.

Bernabeu C, Bayrak-Toydemir P, McDonald J, Letarte M. Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia. Journal of Clinical Medicine 2020;9(11):E3571.

Burd EM, Babiker A, Fairley JK, Bhamidipati D, Woc-Colburn LE, Mathison BA. Closing the Brief Case: Loa loa in a Patient from Nigeria. Journal of Clinical Microbiology 2020;59(1):e01589-20.

Calvaresi EC, Genzen JR. Evaluating Percentage-Based Reporting of Glucose-6-Phosphate Dehydrogenase (G6PD) Enzymatic Activity. American Journal of Clinical Pathology 2020;154(2):248-254.

Coupal E, Hart K, Wong B, Rothwell E. Newborn Screening Knowledge and Attitudes Among Midwives and Out-of-Hospital-Birth Parents. The Journal of Perinatal and Neonatal Nursing 2020;34(4):357-364.

Cowman S, Fuja DG, Liu XD, Tidwell RSS, Kandula N, Sirohi D, Agarwal AM, Emerson LL, Tripp SR, Mohlman JS, Stonhill M, Garcia G, Conley CJ, Olalde AA, Sargis T, Ramirez-Torres A, Karam JA, Wood CG, Sircar K, Tamboli P, Boucher KM, Maughan BL, Spike BT, Ho TH, Agarwal N, Jonasch E, Koh MY. Macrophage HIF-1α Is an Independent Prognostic Indicator in Kidney Cancer. Clinical Cancer Research 2020;26(18):4970-4982.

Creager HM, Cabrera B, Schnaubelt A, Cox JL, Cushman-Vokoun AM, Shakir SM, Tardif KD, Huang ML, Jerome KR, Greninger AL, Drobysheva D, Spaulding U, Rogatcheva M, Bourzac KM, Hinrichs SH, Broadhurst MJ, Fey PD. Clinical Evaluation of the BioFire® Respiratory Panel 2.1 and Detection of SARS-CoV-2. Journal of Clinical Virology 2020;129:104538.

de Almeida M, Nascimento F, Mathison B, Bishop H, Bradbury RS, Cama VA, da Silva AJ. Duplex Real-Time PCR assay for clinical differentiation of Onchocerca lupi and Onchocerca volvulus. The American Society of Tropical Medicine and Hygiene 2020;103(4):1556-1562.

De Biase I, Gherasim C, La'ulu SL, Asamoah A, Longo N, Yuzyuk T. Laboratory Evaluation of Homocysteine Remethylation Disorders and Classic Homocystinuria: Long-Term Follow-Up Using a Cohort of 123 Patients. Clin Chim Acta 2020;509:126-134.

De Biase I, Tortorelli S, Kratz L, Steinberg S, Cusmano-Ozog K, Braverman N on behalf of the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee. Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine 2020;22(4):686-697.

Deftereos G, Sandoval A, Furtado LV, Bronner M, Matynia AP. Successful Lung Cancer EGFR Sequencing from DNA Extracted from TTF-1 Immunohistochemistry Slides: A New Means to Extend Insufficient Tissue. Human Pathology 2020;97:52-59.

Deftereos G, Schmechel SC, Waner EE, Itani M, Dighe MK, Tylee TS. Differential Outcomes of Patients With Thyroid FNA Diagnoses of AUS/FLUS With and Without Nuclear Atypia: The Potential Need for Separation in the Bethesda System. Diagnostic Cytopathology 2020;48(7):610-617.

Deignan JL, Chao E, Gannon JL, Greely HT, Hagman KDF, Mao R, Topper S; ACMG Laboratory Quality Assurance Committee. Points to consider when assessing relationships (or suspecting misattributed relationships) during family-based clinical genomic testing: a statement of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine 2020;22(8):1285-1287.

Dodson MW, Sumner K, Carlsen J, Cirulis MM, Wilson EL, Gadre A, Fernandes TM, Brown LM, Best DH, Elliott CG. The Factor V Leiden Variant and Risk of Chronic Thromboembolic Pulmonary Hypertension. The European Respiratory Journal 2020;56(4):2000774.

Enyenihi A, Kushnir MM, Straseski JA. Measurement of plasma renin activity by liquid chromatography tandem mass spectrometry. Inventions database www.ip.com 2020;IPCOM000262275D.

Erickson JA, Case K, Neider C, Johnson LM. Stool reducing sugars and stool pH are poor screening tests for intestinal disaccharidase deficiencies in children. The Journal of Applied Laboratory Medicine 2020;5(2):257-262.

Flores Daboub JA, Grimmer JF, Frigerio A, Wooderchak-Donahue W, Arnold R, Szymanski J, Longo N, Bayrak-Toydemir P. Parkes Weber syndrome associated with two somatic pathogenic variants in RASA1. Cold Spring Harbor Molecular Case Studies 2020;6(4):a005256.

Gandhi JS, Smith SC, Paner GP, McKenney JK, Sekhri R, Osunkoya AO, Baras AS, DeMarzo AM, Cheville JC, Rafael JE, Trpkov K, Colecchia M, Ro JY, Montironi R, Menon S, Hes O, Williamson SR, Hirsch MS, Netto GJ, Fine SW, Sirohi D, Kaushal S, Sangoi A, Robinson BD, Kweldam CF, Humphrey PA, Hansel DE, Schultz L, Magi-Galluzzi C, Przybycin CG, Shah RB, Mehra R, Kunju LP, Aron M, Kryvenko ON, Kench JG, Kuroda N, Tavora F, van der Kwast T, Grignon DJ, Epstein JI, Reuter VE, Amin MB. Reporting Practices and Resource Utilization in the Era of Intraductal Carcinoma of the Prostate: A Survey of Genitourinary Subspecialists. American Journal of Surgical Pathology 2020;44(5):673-680.

Genzen JR. Wiping the Slate Clean-Assessing Clinical Laboratory Contamination Risk. Clinical Chemistry 2020;66(9):1128-1130.

Goold E, Pearson L, Johnson LM. Can Fecal Calprotectin Serve as a Screen for Necrotizing Enterocolitis in Infants? Clinical Biochemistry 2020;84:51-54.

Gordeuk VR, Shah BN, Zhang X, Thuma PE, Zulu S, Moono R, Reading NS, Song J, Zhang Y, Nouraie M, Campbell A, Minniti CP, Rana SR, Darbari DS, Kato GJ, Niu M, Castro OL, Machado R, Gladwin MT, Prchal JT. The CYB5R3 c .350C>G and G6PD A Alleles Modify Severity of Anemia in Malaria and Sickle Cell Disease. American Journal of Hematology 2020;95(11):1269-1279.

Greene DN, Jackson ML, Hillyard DR, Delgado JC, Schmidt RL. Decreasing median age of COVID-19 cases in the United States-Changing epidemiology or changing surveillance? PLoS One 2020;15(10):e0240783.

Hanson KE, Barker AP, Hillyard DR, Gilmore N, Barrett JW, Orlandi RR, Shakir SM. Self-Collected Anterior Nasal and Saliva Specimens versus Healthcare Worker-Collected Nasopharyngeal Swabs for the Molecular Detection of SARS-CoV-2. Journal of Clinical Microbiology 2020;58(11):e01824-20.

Hanson KE, Gabriel N, Mchardy I, Hoffmann W, Cohen SH, Couturier MR, Thompson GR 3rd. Impact of IVIG therapy on serologic testing for infectious diseases. Diagnostic Microbiology and Infectious Disease 2020;96(2):114952.

Hartmann K, Gotlib J, Akin C, Hermine O, Awan FT, Hexner E, Mauro MJ, Menssen HD, Redhu S, Knoll S, Sotlar K, George TI, Horny HP, Valent P, Reiter A, Kluin-Nelemans HC. Midostaurin Improves Quality of Life and Mediator-Related Symptoms in Advanced Systemic Mastocytosis. The Journal of Allergy and Clinical Immunology 2020;146(2):356-366.e4.

Hayashi RJ, Winter SS, Dunsmore KP, Devidas M, Chen Z, Wood BL, Hermiston ML, Teachey DT, Perkins SL, Miles RR, Raetz EA, Loh ML, Winick NJ, Carroll WL, Hunger SP, Lim MS, Gross TG, Bollard CM. Successful Outcomes of Newly Diagnosed T Lymphoblastic Lymphoma: Results From Children's Oncology Group AALL0434. Journal of Clinical Oncology 2020;38(26):3062-3070.

Hayward CPM, George TI, Van Cott EM, Smock KJ. Patient Advocacy and Its Importance to Laboratory Medicine Practice. International Journal of Laboratory Hematology 2020;42 Suppl 1:21-22.

He L, Rockwood AL, Agarwal AM, Anderson LC, Weisbrod CR, Hendrickson CL, Marshall AG. Top-down Proteomics-A Near-Future Technique for Clinical Diagnosis? Annals of Translational Medicine 2020;8 (4), 136.

Hong SL, Dellicour S, Vrancken B, Suchard MA, Pyne MT, Hillyard DR, Lemey P, Baele G. In search for covariates of HIV-1 subtype B spread in the United States - A cautionary tale of Large-scale Bayesian phylogeogrphy. Viruses 2020;12(2).

Hoshitsuki K, Crews KR, Yang W, Smith CA, Hankins JS, Turner AJ, Broeckel U, McMillin GA, Relling MV, Haidar CE. Challenges in clinical implementation of CYP2D6 genotyping: choice of variants to test affects phenotype determination. Genetics in Medicine 2020;22(1):232-233.

Jacobs JFM, Turner KA, Graziani MS, Frinack JL, Ettore MW, Tate JR, Booth RA, McCudden CR, Keren DF, Delgado JC, Zemtsovskaja G, Fullinfaw RO, Caldini A, de Malmanche T, Katakouzinos K, Burke M, Palladini G, Altinier S, Zaninotto M, Righetti G, Melki MT, Bell S, Willrich MAV. An international multi-center serum protein electrophoresis accuracy and M-protein isotyping study. Part II: limit of detection and follow-up of patients with small M-proteins. Clinical Chemistry and Laboratory Medicine 2020;58(4):547-559.

Jaffey JA, Reading NS, Abdulmalik O, Kreisler R, Bullock G, Wiest A, Villani NA, Mhlanga-Mutangadura T, Johnson GS, Cohn LA, Isaza N, Harvey JW, Gigerg U. Clinical, metabolic, and molecular genetic characterization of hereditary methemoglobinemia caused by cytochrome b5 reductase deficiency in 30 dogs. Scientific Reports 2020;10(1):21399.

Johnson LM, White SK, Greene DN, Schmidt RL. Bad Tests Die Slowly: The Myelin Basic Protein Example. Journal of Applied Laboratory Medicine 2020;5(1):136-141.

Johnson LM, White SK, Schmidt RL. Are Calprotectin and Lactoferrin Equivalent Screening Tests for Inflammatory Bowel Disease? Clinica Chimica Acta 2020;510:191-195.

Johnson-Davis KL, Doyle K. Therapeutic Drug Monitoring in Pregnant Patients. Therapeutic Drug Monitoring 2020;42(2):172-180.

Johnson-Davis KL, Farnsworth C, Law C, Parker R. Method validation for a multi-element panel in serum by inductively coupled plasma mass spectrometry (ICP-MS). Clinical Biochemistry 2020;82:90-98.

Joshi HR, Hill HR, Zhou Z, He X, Voelkerding KV, Kumánovics A. Frontline Science: Cxxc5 Expression Alters Cell Cycle and Myeloid Differentiation of Mouse Hematopoietic Stem and Progenitor Cells. Journal of Leukocyte Biology 2020;108(2):469-484.

Krasowski MD, McMillin GA, Melanson SEF, Dizon A, Magnani B, Snozek CLH. Interpretation and Utility of Drug of Abuse Screening Immunoassays: Insights From Laboratory Drug Testing Proficiency Surveys. Archives of Pathology and Laboratory Medicine 2020;144(2):177-184.

Kroner GM, Johnson-Davis KL, Doyle K, McMillin GA. Cannabinol (CBN) Cross-Reacts With Two Urine Immunoassays Designed to Detect Tetrahydrocannabinol (THC) Metabolite. Journal of Applied Laboratory Medicine 2020;5(3):569-574.

Kushnir MM, Peterson LK, Strathmann FG. Parathyroid Hormone Related Protein (PTHrP) in Cerebrospinal Fluid in Health and Disease. Clinical Laboratory International 2020;16-18.

Kushnir MM, Song B, Yang E, Frank EL. Development and Clinical Evaluation of a High-Throughput LC-MS/MS Assay for Vitamin B6 in Human Plasma and Serum. Journal of Applied Laboratory Medicine 2020;1-13.

Larkin T, Li P, Horn B. Parvovirus B19 infection masquerading as relapsed acute lymphoblastic leukaemia following haematopoietic stem cell transplantation. BMJ Case Reports 2020;13(8):e235837.

Lawrence R, Prill H, Vachali P, Adintor EG, Wan RY, Burto BK, Pasquali M, Crawford BE. Characterization of disease-specific chondroitin sulfate non-reducing end accumulation in mucopolysaccharidosis IVA. GLYCOBIOLOGY 2020;30(7):433-445.

Layfield LJ, Crim JR, Oserowsky A, Schmidt RL. Pathology Assessment of Femoral Head Resection Specimens: An Important Quality Assurance Procedure. Archives of Pathology and Laboratory Medicine 2020;144(5):580-585.

Layfield LJ, Wang G, Yang ZJ, Gomez-Fernandez C, Esebua M, Schmidt RL. Interobserver Agreement for the International Academy of Cytology Yokohama System for Reporting Breast Fine-Needle Aspiration Biopsy Cytopathology. Acta Cytologica 2020;64(5):413-419.

Liu BM, Hill HR. Role of Host Immune and Inflammatory Responses in COVID-19 Cases with Underlying Primary Immunodeficiency: A Review. Journal of Interferon & Cytokine Research 2020;40(12):549-554.

Lozier BK, Kim RN, Zuromski LM, Kish-Trier E, De Biase I, Yuzyuk T. Effect of fasting status and other pre-analytical variables on quantitation of long-chain fatty acids in red blood cells. Prostaglandins, Leukotrienes, and Essential Fatty Acids 2020;163:102211.

Lu J, Grenache DJ. Development of an Automated Enzymatic Method to Quantify Pyruvate Kinase in Red Blood Cells. The Journal of Applied Laboratory Medicine 2020;5(1):54-61.

Luetkens T, Metcalf R, Planelles V, Zheng Y, Larragoite ET, Spivak ES, Spivak AM, Steinbach M, Blaylock RC, Avila SV, Hankey KG, Martins TB, Slev PR, Mannuel HD, Sajadi M, Rapoport AP, Atanackovic D. Successful transfer of anti-SARS-CoV-2 immunity using convalescent plasma in an MM patient with hypogammaglobulinemia and COVID-19. Blood Advances 2020;4(19):4864-4868.

Martin KA, Samango-Sprouse CA, Kantor V, Dhamankar R, Valenti E, Trefogli MT, Balosbalos I, Lagrave D, Lyons D, Kao C, Hakonarson H, Billings PR. Detection of maternal X chromosome abnormalities using single nucleotide polymorphism-based noninvasive prenatal testing. American Journal of Obstetrics and Gynecology MFM 2020;2(3):100152.

Martin RM, Burke K, Verma D, Xie H, Langer J, Schlaberg R, Swaminathan S, Hanson KE. Contact Transmission of Vaccinia to an Infant Diagnosed by Viral Culture and Metagenomic Sequencing. Open Forum Infectious Diseases 2020;7(4):ofaa111.

Mathison BA, Kohan JL, Walker JF, Smith RB, Ardon O, Couturier MR. Detection of Intestinal Protozoa in Trichrome-stained Stool Specimens by use of Deep Convolutional Neural Network. Journal of Clinical Microbiology 2020;58(6):e02053-19.

Mathison BA, Pritt BS. Sleeping with the Enemy: Everything You Need to Know about the Biology, Clinical Significance, and Laboratory Identification of Bed Bugs. Clinical Microbiology Newsletter 2020;43(1):1-7.

McDonald J, Bayrak-Toydemir P, DeMille D, Wooderchak-Donahue W, Whitehead K. Curaçao Diagnostic Criteria for Hereditary Hemorrhagic Telangiectasia Is Highly Predictive of a Pathogenic Variant in ENG or ACVRL1 (HHT1 and HHT2). Genetics in Medicine 2020;22(7):1201-1205.

Mohlman JS, Leventhal SD, Hansen T, Kohan J, Pascucci V, Salama ME. Improving Augmented Human Intelligence to Distinguish Burkitt Lymphoma From Diffuse Large B-Cell Lymphoma Cases. American Journal of Clinical Pathology 2020;153(6):743-759.

Moser KA, Pearson LN, Pelt CE, Olson JD, Goodwin AJ, Isom JA, Harris NS, Pham HP, Smock KJ, Unold D, VanSandt AM, Volod O, Chen D. Letter to the Editor on "The 2018 Definition of Periprosthetic Hip and Knee Infection: An Evidence-Based and Validated Criteria". Journal of Arthroplasty 2020;35(9):2682-2683.

Moyer AM, McMillin GA, Long T, Gandhi M, Mao R, Smock KJ, Halley J, Weck KE. Genotype and Phenotype Concordance for Pharmacogenetic Tests Through Proficiency Survey Testing. Archives of Pathology and Laboratory Medicine 2020;144(9):1057-1066.

Naides SJ, Genzen JR, Abel G, Bashleben C, Ansari MQ. Antinuclear Antibodies (ANA) Testing Method Variability: A Survey of Participants in the College of American Pathologists' (CAP) Proficiency Testing Program. The Journal of Rheumatology 2020;47(12):1768-1773.

Ng DP, Herman DS. How to Implement Patient-Based Quality Control: Trial and Error. Journal of Applied Laboratory Medicine 2020;5(6):1153-1155.

Nix DA, Hellwig S, Conley C, Alun T, Fuertes C, Hamil C, Bhetariya P, Garrido-Laguno I, Marth G, Bronner MP, Underhill HR. The stochastic nature of errors in next-generation sequencing of circulating cell-free DNA. PLoS One 2020;15 (2), e0229063.

Patel AB, Pomicter AD, Yan D, Eiring AM, Antelope O, Schumacher JA, Kelley TW, Tantravahi SK, Kovacsovics TJ, Shami PJ, O'Hare T, Deininger MW. Dasatinib overcomes stroma-based resistance to the FLT3 inhibitor quizartinib using multiple mechanisms. Leukemia 2020;34(11):2981-2991.

Peacock WF, Christenson R, Diercks DB, Fromm C, Headden GF, Hogan CJ, Kulstad EB, LoVecchio F, Nowak RM, Schrock JW, Singer AJ, Storrow AB, Straseski J, Wu AHB, Zelinski DP. Myocardial Infarction Can Be Safely Excluded by High-sensitivity Troponin I Testing 3 Hours After Emergency Department Presentation. Academic Emergency Medicine 2020;27(8):671-680.

Peterson LK, Tebo AE, Wener MH, Copple SS, Fritzler MJ. Assessment of Antinuclear Antibodies by Indirect Immunofluorescence Assay: Report From a Survey by the American Association of Medical Laboratory Immunologists. Clinical Chemistry and Laboratory Medicine 2020;58(9):1489-1497.

Pratt VM, Cavallari LH, Del Tredici AL, Hachad H, Ji Y, Kalman LV, Ly RC, Moyer AM, Scott SA, Whirl-Carrillo M, Weck KE. Recommendations for Clinical Warfarin Sensitivity Genotyping Allele Selection: A Report of the Association for Molecular Pathology and College of American Pathologists. Journal of Molecular Diagnostics 2020;22(7):847-859.

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 LV. Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A Genetic Testing Reference Materials Coordination Program Collaborative Project. The Journal of Molecular Diagnostics 2020;S1525-1578(20)30534-1.

Profaizer T, Lazár-Molnár E. Cell-Free DNA and its Applications in Laboratory Medicine. ASHI Quarterly 2020;44(2):22-26.

Profaizer T, Pole A, Monds C, Delgado J, Lázár-Molnár E. Clinical utility of next generation sequencing based HLA typing for disease association and pharmacogenetic testing. Human Immunology 2020;81(7):354-360.

Profaizer T, Slev P. A multiplex, digital droplet PCR assay for the detection of T-cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC). Clinical Chemistry 2020;66:1 229-238.

Radhakrishnan SV, Luetkens T, Scherer SD, Davis P, Vander Mause ER, Olson ML, Yousef S, Panse J, Abdiche Y, Li KD, Miles RR, Matsui W, Welm AL, Atanackovic D. CD229 CAR T Cells Eliminate Multiple Myeloma and Tumor Propagating Cells Without Fratricide. Nature Communications 2020;11 (1), 798.

Reiter A, George TI, Gotlib J. New developments in diagnosis, prognostication, and treatment of advanced systemic mastocytosis. Blood 2020;135(16):1365-1376.

Reyes-Vargas E, Barker AP, Zhou Z, He X, Jensen PE. HLA-DM catalytically enhances peptide dissociation by sensing peptide-MHC class II interactions throughout the peptide-binding cleft. The Journal of Biological Chemistry 2020;295(10):2959-2973.

Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL, ACMG. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genetics in Medicine 2020;22 (2), 245-257.

Riggs ER, Andersen EF, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL; American College of Medical Genetics and Genomics. Response to Maya Et Al. Genetics in Medicine 2020;22(7):1278-1279.

Ritter A, Werner P, Latney B, Krock BL, Santani A, Bedoukian E, Skraban CM, Deardorff MA, Goldmuntz E. NKX2-6 Related Congenital Heart Disease: Biallelic Homeodomain-Disrupting Variants and Truncus Arteriosus. American Journal of Medical Genetics. Part A 2020;182(6):1454-1459.

Rossi A, Fisher MA. Characterization of Six Clinical Isolates of Chimaeribacter Gen. Nov., a Novel Genus Related to the Yersiniaceae Family and the Three Species Chimaeribacter arupi Sp. Nov., Chimaeribacter coloradensis Sp. Nov , and Chimaeribacter californicus Sp. Nov. International Journal of Systemic and Evolutionary Microbiology 2020;70(4):2703-2712.

Roundy CS, Lin DC, Klopping PJ, Ence AT, Krezel AC, Genzen JR. Specimen Temperature Detection on a Clinical Laboratory Pre-Analytic Automation Track: Implications for Direct-from-Track Total Laboratory Automation (TLA) Systems. SLAS Technology 2020;25(3):293-299.

Rychert J, Delgado JC, Genzen JR. Modification of In Vitro Diagnostic Devices: Leveling the Playing Field. Clinical Chemistry 2020;66(6):760-762.

Samha L, Sirdah MM, Reading NS, Karmi B, Agarwal AM. Molecular Understanding of Severe Cases of β-Thalassemia in the Nablus Region, West Bank, Palestine. Hemoglobin 2020;44(2):128-130.

Schlaberg R. Microbiome Diagnostics. Clinical Chemistry 2020;66(1):68-76.

Schmidt R, Layfield LJ. Authors Response: The Milan System for Reporting Salivary Gland Cytopathology: A Study of Inter-Observer Reproducibility. Diagnostic Cytopathology 2020;48(3):287.

Schumacher JA, Holgard V, Sial F, Pearson L, Patel JL, Karner KH. Detection and Quantification of FLT3 Internal Tandem Duplication Mutations Do Not Vary Significantly Between Whole Blood and Blast-Enriched Samples. American Journal of Clinical Pathology 2020;153(2):251-257.

Shakir SM, Barker AP, Hillyard DR, Gilmore N, Barrett JW, Orlandi RR, Hanson KE. Combined Self-collected Anterior Nasal and Oropharyngeal Specimens versus Provider-collected Nasopharyngeal Swabs for the Detection of SARS-CoV-2. Journal of Clinical Microbiology 2020;59(1):e02291-20.

Shakir SM, Mansfield CR, Hays ED, Couturier MR, Hillyard DR. Evaluation of a Novel High-Definition PCR Multiplex Assay for the Simultaneous Detection of Tick-Borne Pathogens in Human Clinical Specimens. Journal of Clinical Microbiology 2020;58(3):e01655-19.

Shen W, Flores-Daboub J, Viskochil D, Dugan SL, Best HD, Mao R. Detecting Mosaic Variants in Patients With Somatic Overgrowth Syndromes Using Cell-Free Circulating DNA and Deep Sequencing. Journal of Medical Genetics 2020;57(11):794-796.

Sirdah MM, Reading NS. Genetic Predisposition in Type 2 Diabetes: A Promising Approach Toward a Personalized Management of Diabetes. Clinical Genetics 2020;98(6):525-547.

Sireci AN, Patel JL, Joseph L, Hiemenz MC, Rosca OC, Caughron SK, Thibault-Sennett SA, Burke TL, Aisner DL. Molecular Pathology Economics 101: An Overview of Molecular Diagnostics Coding, Coverage and Reimbursement. Journal of Molecular Diagnostics 2020;22(8):975-993.

Sirohi D, Schmidt RL, Aisner DL, Behdad A, Betz BL, Brown N, Coleman JF, Corless CL, Deftereos G, Ewalt MD, Fernandes H, Hsiao SJ, Mansukhani MM, Murray SS, Niu N, Ritterhouse LL, Suarez CJ, Tafe LJ, Thorson JA, Segal JP, Furtado LV. Multi-Institutional Evaluation of Inter-rater Agreement of Variant Classification Based on the 2017 AMP, ASCO and CAP Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer. Journal of Molecular Diagnostics 2020;22(2):284-293.

Smith KP, Wang H, Durant T, Mathison BA, Sharp S, Kirby J, Long SW, Rhoads DD. Applications of Artificial Intelligence in Clinical Microbiology Diagnostic Testing. Clinical Microbiology Newsletter 2020;42(8):61-70.

Smy L, Sadler AJ, McMillin GA. Evaluation of Imatinib Concentrations in Samples Submitted for BCR-ABL1 or Imatinib Testing - Evidence to Support Therapeutic Drug Monitoring for Dose Optimization? Therapeutic Drug Monitoring 2020;42(4):559-564.

Soderholm HE, Chapin AB, Bayrak-Toydemir P, Bonkowsky JL. Elevated Leukodystrophy Incidence Predicted From Genomics Databases. Pediatric Neurology 2020;111:66-69.

Stewart RL, Matynia AP, Factor RE, Varley KE. Spatially-resolved Quantification of Proteins in Triple Negative Breast Cancers Reveals Differences in the Immune Microenvironment Associated With Prognosis. Scientific Reports 2020;10(1):6598.

Tang Y, Li P, Cua D, Lai J. Laryngeal Diffuse Large B-Cell Lymphoma Presenting as Laryngeal Stenosis. In Vivo 2020;34(1):255-260.

Theel ES, Couturier MR, Filkins L, Palavecino E, Mitchell S, Campbell S, Pentella M, Butler-Wu S, Jerke K, Dharmarha V, McNult P, Schuetz AN; American Society for Microbiology Clinical and Public Health Microbiology Committee, Subcommittee on Laboratory Practices. Application, Verification and Implementation of SARS-CoV-2 Serologic Assays with Emergency Use Authorization. Journal of Clinical Microbiology 2020;59(1):e02148-20.

Theel ES, Slev P, Wheeler S, Couturier MR, Wong SJ, Kadkhoda K. The Role of Antibody Testing for SARS-CoV-2: Is There One? Journal of Clinical Microbiology 2020;58(8):e00797-20.

Tidwell T, Deshotel M, Palumbos J, Miller C, Bayrak-Toydemir P, Carey JC. Novel de novo ARCN1 intronic variant causes rhizomelic short stature with microretrognathia and developmental delay. Cold Spring Harbor Molecular Case Studies 2020;6(6):a005728.

Turner KA, Frinack JL, Ettore MW, Tate JR, Graziani MS, Jacobs JFM, Booth RA, McCudden CR, Keren DF, Delgado JC, Zemtsovskaja G, Fullinfaw RO, Caldini A, de Malmanche T, Katakouzinos K, Burke M, Palladini G, Altinier S, Zaninotto M, Righetti G, Melki MT, Bell S, Willrich MAV. An international multi-center serum protein electrophoresis accuracy and M-protein isotyping study. Part I: factors impacting limit of quantitation of serum protein electrophoresis. Clinical Chemistry and Laboratory Medicine 2020;58(4):533-546.

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