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.
Adams A, Straseski JA, Lehman CM, Pearson LN. Peritoneal and Pleural Fluid Chemistry Measurements Performed on Three Chemistry Platforms. Laboratory Medicine 2019;50(2):145-149.
Adl SM, Mathison BA. Chapter 135: Taxonomy and Classification of Human Eukaryotic Parasites. Manual of Clinical Microbiology, Twelfth Edition 2019;2:2379-2388.
Agarwal AM. Ankyrin Mutations in Hereditary Spherocytosis. Acta Haematologica 2019;141(2):63-64.
Bahr TM, Christensen RD, Agarwal AM, George TI, Bhutani VK. The Neonatal Acute Bilirubin Encephalopathy Registry (NABER): Background, Aims, and Protocol. Neonatology 2019;115(3):242-246.
Bianchi P, Elisa Fermo E, Glader B, Kanno H, Agarwal A, Barcellini W, Eber S, Hoyer JD, Kuter DJ, Maia TM, Del Mar Mañu-Pereira M, Kalfa TA, Pissard S, Segovia JC, van Beers E, Gallagher PG, Rees DC, van Wijk R. Addressing the diagnostic gaps in pyruvate kinase (PK) deficiency: Consensus recommendations on the diagnosis of PK deficiency. American Journal of Hematology 2019;94(1):149-161.
Borga C, Park G, Foster C, Burroughs-Garcia J, Marchesin M, Shah R, Hasan A, Ahmed ST, Bresolin S, Batchelor L, Scordino T, Miles RR, Te Kronnie G, Regens JL, Frazer JK. Simultaneous B and T cell acute lymphoblastic leukemias in zebrafish driven by transgenic MYC: implications for oncogenesis and lymphopoiesis. Leukemia 2019;33(2):333-347.
Bornhorst J, McMillin G. Genetic polymorphisms of alcohol metabolizing enzymes associated with protection from or increased risk of alcohol abuse. Alcohol, Drugs, Genes and the Clinical Laboratory, 2nd Edition 2019;Ch4, 43-58.
Bowen R, Benavides R, Colón-Franco JM, Katzman BM, Muthukumar A, Sadrzadeh H, Straseski J, Klause U, Tran N. Best practices in mitigating the risk of biotin interference with laboratory testing. Clinical Biochemistry 2019;74:1-1.
Brown K, Fenn JP, Fong K, Freeman V, Genzen J, Goodyear N, Lunz Houston M, Taff T, Tanabe P. ASCP Board of Certification Survey of Medical Laboratory Science Education Programs. Laboratory Medicine 2019;50(4):e70-e74.
Brown K, Parker Fenn J, Fong K, Freeman V, Genzen J, Goodyear N, Lunz Houston M, Taff T, Tanabe P. ASCP Board of Certification Survey of Medical Laboratory Science Faculty. Laboratory Medicine 2019;50(4):e75-e81.
Brunelli L, Jenkins SM, Gudgeon JM, Bleyl SB, Miller CE, Tvrdik T, Dames SA, Ostrander B, Daboub JAF, Zielinski BA, Zinkhan EK, Underhill HR, Wilson T, Bonkowsky JL, Yost CC, Botto LD, Jenkins J, Pysher TJ, Bayrak-Toydemir P, Mao R. Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants. Molecular Genetics and Genomic Medicine 2019;7(7):e00796.
Bui MM, Riben MW, Allison KH, Chlipala E, Colasacco C, Kahn AG, Lacchetti C, Madabhushi A, Pantanowitz L, Salama ME, Stewart RL, Thomas NE, Tomaszewski JE, Hammond ME. Quantitative Image Analysis of Human Epidermal Growth Factor Receptor 2 Immunohistochemistry for Breast Cancer: Guideline From the College of American Pathologists. Archives of Pathology and Laboratory Medicine 2019;143(10):1180-1195.
Carlston CM, Bleyl SB, Andrews A, Meyers L, Brown S, Bayrak-Toydemir P, Bale JF, Botto LD. Expanding the genetic and clinical spectrum of the NONO-associated X-linked intellectual disability syndrome. American Journal of Medical Genetics. Part A 2019;179(5):792-796.
Carlston CM, Ferdinandusse S, Hobert JA, Mao R, Longo N. Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency. JIMD Reports 2019;43:103-109.
Cessna MH, Paulraj P, Hilton B, Sadre-Bazzaz K, Szankasi P, Cluff A, Patel JL, Hoda D, Toydemir RM. Chronic myelomonocytic leukemia with ETV6-ABL1 rearrangement and SMC1A mutation. Cancer Genetics 2019;238:31-36.
Chandler WL, Brown AF, Chen D, Moser K, Olson JD, Pham HP, Smock KJ, Volod O, Higgins RA. External Quality Assurance of Platelet Function Assays: Results of the College of American Pathologists Proficiency Testing Program. Archive of Pathology & Laboratory Medicine 2019;143(4):472-482.
Chapel DB, Stewart R, Furtado LV, Husain AN, Krausz T, Deftereos G. Tumor PD-L1 expression in malignant pleural and peritoneal mesothelioma by Dako PD-L1 22C3 pharmDx and Dako PD-L1 28-8 pharmDx assays. Human Pathology 2019;87:11-17.
Chisholm KM, Mohlman J, Liew M, Termuhlen A, Cairo MS, Gross TG, Perkins SL, Miles RR. IRF4 translocation status in pediatric follicular and diffuse large B-cell lymphoma patients enrolled in Children's Oncology Group trials. Pediatric Blood & Cancer 2019;66(8):e27770.
Clark JJ, Hawkes JE, Florell SR, Miles RR, Wada DA. Cutaneous T-Cell Acute Lymphoblastic Leukemia and the Expression Pattern of Terminal Deoxynucleotidyl Transferase Immunostaining in Mycosis Fungoides and Spongiotic Dermatitis. Dermatopathology (Basel) 2019;6(3):182-188.
Corean J, Furtado LV, Kadri S, Segal JP, Emerson LL. Cribriform-Morular Variant of Papillary Thyroid Carcinoma with Poorly Differentiated Features: A Case Report With Immunohistochemical and Molecular Genetic Analysis. International Journal of Surgical Pathology 2019;27(3):294-304.
Corean JLE, George TI, Patel JL, Li KD. Bone marrow findings in metastatic melanoma, including role of BRAF immunohistochemistry. International Journal of Laboratory Hematology 2019;41(4):550-560.
Couturier MR, Mathison BA. Parasite Diagnostics. AACC Learning Lab for Laboratory Medicine on NEJM Knowledge+ 2019;Online.
Davis RE, Mathison BA, Couturier MR. Raillietiniasis in a toddler from hawaii; a case of mistaken tapeworm identity. Clinical Infectious Diseases 2019;69(6):1053-1055.
De Biase I, Pasquali M, Asamoah A. Unusual Metabolites in Patient with Isovaleric Acidemia. Clinical Chemistry 2019;65(4):595-597.
Dinarvand P, Moser K. Protein C Deficiency. Archives of Pathology & Laboratory Medicine 2019;143(10):1281-1285.
Eide CA, Zabriskie MS, Savage Stevens SL, Antelope O, Vellore NA, Than H, Schultz AR, Clair P, Bowler AD, Pomicter AD, Yan D, Senina AV, Qiang W, Kelley TW, Szankasi P, Heinrich MC, Tyner JW, Rea D, Cayuela JM, Kim DW, Tognon CE, O'Hare T, Druker BJ, Deininger MW. Combining the Allosteric Inhibitor Asciminib with Ponatinib Suppresses Emergence of and Restores Efficacy against Highly Resistant BCR-ABL1 Mutants. Cancer Cell 2019;36(4):431-443.e5.
Eno C, Bayrak-Toydemir P, Bean L, Braxton A, Chao EC, El-Khechen D, Esplin ED, Friedman B, Hagman KDF, Hambuch T, Hernandez A, Juusola J, Londre G, Machado J, Mao R, Mighion L, Rehm HL, Ward P, Deignan JL. Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization. Genetics in Medicine 2019;21(4):861-866.
Forde BM, Roberts LW, Phan MD, Peters KM, Fleming BA, Russell CW, Lenherr SM, Myers JB, Barker AP, Fisher MA, Chong TM, Yin WF, Chan KG, Schembri MA, Mulvey MA, Beatson SA. Population dynamics of an Escherichia coli ST131 lineage during recurrent urinary tract infection. Nature Communications 2019;10(1):3643.
Frazer JK, Li KJ, Galardy PJ, Perkins SL, Auperin A, Anderson JR, Pinkerton R, Buxton A, Gross TG, Michon J, Leverger G, Weinstein HJ, Harrison L, Shiramizu B, Barth MJ, Goldman SC, Patte C, Cairo MS. Excellent outcomes in children and adolescents with CNS+ burkitt lymphoma or other mature B-NHL using only intrathecal and systemic chemoimmunotherapy: results from FAB/LMB96 and COG ANHL01P1. British Journal of Haematology 2019;185(2):374-377.
Gaedigk A, Turner A, Everts RE, Scott SA, Aggarwal P, Broeckel U, McMillin GA, Melis R, Boone EC, Pratt VM, Kalman LV. Characterization of Reference Materials for Genetic Testing of CYP2D6 Alleles: A GeT-RM Collaborative Project. The Journal of Molecular Diagnostics 2019;21(6):1034-1052.
Gage BF, Bass AR, Lin H, Woller SC, Stevens SM, Al-Hammadi N, Anderson JL, Li J, Rodriguez T Jr, Miller JP, McMillin GA, Pendleton RC, Jaffer AK, King CR, Whipple B, Porche-Sorbet R, Napoli L, Merritt K, Thompson AM, Hyun G, Hollomon W, Barrack RL, Nunley RM, Moskowitz G, Dávila-Román V, Eby CS. Effect of Low-Intensity vs Standard-Intensity Warfarin Prophylaxis on Venous Thromboembolism or Death Among Patients Undergoing Hip or Knee Arthroplasty: A Randomized Clinical Trial. JAMA 2019;322(9):834-842.
Galardy PJ, Bedekovics T, Macintyre E, Miles RR. Lymphoma diagnostics: getting more from less. British Journal of Haematology 2019;185(6):1136-1141.
Gasparini J, Yuzyuk T, Ortega A, De Biase I. Exploring the perceived self-efficacy of genetic counselors as teachers. Journal of Community Genetics 2019;10(2):313-319.
Genzen JR. Regulation of Laboratory-Developed Tests. American Journal of Clinical Pathology 2019;152(2):122-131.
Genzen JR, La'ulu SL, Wyness SP, Scholes KL, Signorelli HN, Greer RW. Identifying and Eliminating Laboratory Contamination by Topical Testosterone Therapeutics. Clinical Chemistry 2019;65(1):67-73.
Gorshkov K, Wang AQ, Sun W, Fisher E, Frigeni M, Singleton M, Thorne N, Class B, Huang W, Longo N, Do MT, Ottinger EA, Xu X, Zheng W. Phosphocyclocreatine is the dominant form of cyclocreatine in control and creatine transporter deficiency patient fibroblasts. Pharmacology Research and Perspectives 2019;7(6):e00525.
Gruzdys V, Merrigan SD, Johnson-Davis KL. Feasibility of Immunosuppressant Drug Monitoring by a Microsampling Device. Journal of Applied Laboratory Medicine 2019;4(2):241-246.
Hale AJ, Mathison B, Pritt BS, Collins K. Endemic Bot Fly Larvae Infection in Northern New York State. ID Cases 2019;16:e00531.
He L, Rockwood AL, Agarwal AM, Anderson LC, Weisbrod CR, Hendrickson CL, Marshall AG. Diagnosis of Hemoglobinopathy and β-Thalassemia by 21-Tesla Fourier Transform Ion Cyclotron Resonance Mass Spectrometry and Tandem Mass Spectrometry of Hemoglobin from Blood. Clinical Chemistry 2019;65(8):986-994.
Heikal N, Martins TB, White S, Willis R, Branch DW, Schmidt RL, Tebo AE. Laboratory Evaluation of Antiphospholipid Syndrome. American Journal of Clinical Pathology 2019;152(5):638-646.
Herriges JC, Arch EM, Burgio PA, Baldwin EE, LaGrave D, Lamb AN, Toydemir RM. Delineating the Clinical Spectrum Associated With Xq25q26.2 Duplications: Report of 2 Families and Review of the Literature. Journal of Child Neurology 2019;34(2):86-93.
Herriges JC, Brown S, Longhurst M, Ozmore J, Moeschler JB, Janze A, Meck J, South ST, Andersen EF. Identification of two 14q32 deletions involving DICER1 associated with the development of DICER1-related tumors. European Journal of Medical Genetics 2019;62(1):9-14.
Horn S, Au M, Basel-Salmon L, Bayrak-Toydemir P, Chapin A, Cohen L, Elting MW, Graham JM, Gonzaga-Jauregui C, Konen O, Holzer M, Lemke J, Miller CE, Rey LK, Wolf NI, Weiss MM, Waisfisz Q, Mirzaa GM, Wieczorek D, Sticht H, Abou Jamra R. De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures. Brain 2019;142(11):3351-3359.
Hunsaker JJH, Wyness SP, Needham LL, Genzen JR. Evaluation of L-index interference limits on Roche cobas c502 and c702 immunoturbidimetric assays using endogenously lipemic specimens and intralipid spiking. Clinical Biochemistry 2019;70:18-23.
Jafek JL, Shakya A, Tai PY, Ibarra A, Kim H, Maddox J, Chumley J, Spangrude GJ, Miles RR, Kelley TW, Tantin D. Transcription factor Oct1 protects against hematopoietic stress and promotes acute myeloid leukemia. Experimental Hematology 2019;76:38-48.e2.
Jedrzkiewicz J, Quencer K, Matynia AP, Morrow E, Pletneva M, Barraza G. Peutz-Jeghers Type Polyp of the Appendix with Review of Literature. Case Reports in Pathology 2019;2019:7584070.
Karner K, George TI, Patel JL. Current Aspects of Clonal Hematopoiesis: Implications for Clinical Diagnosis. Annals of Laboratory Medicine 2019;39(6):509-514.
Karner KH, Kohan JL, Tripp SR, Salama ME. Characterization of myeloid malignancies with TP53 mutations and comparison to P53 expression by immunohistochemical staining methods. International Journal of Laboratory Hematology 2019.
Khan J, Schmidt RL, Spittal MJ, Smock KJ, Greene DN. Venous thrombotic risk in transgender women undergoing estrogen therapy: A systematic review and meta-analysis. Clinical Chemistry 2019;65(1):57-66.
Kim K, McMillin GA, Bernard PS, Tantravahi S, Walker BS, Schmidt RL. Cost effectiveness of therapeutic drug monitoring for imatinib administration in chronic myeloid leukemia. PLoS One 2019;14(12):e0226552.
Kushnir MM, Michno W, Rockwood AL, Blennow K, Strathmann FG, Hanrieder J. Association of PTHrP Levels in CSF with Alzheimer's Disease Biomarkers. Clinical Mass Spectrometry 2019;14(Part B):124-129.
Lau AF, Walchak RC, Miller HB, Slechta ES, KAMBOJ K, Riebe K, Robertson AE, Gilbreath JJ, Mitchell KF, Wallace MA, Bryson AL, Balada-Llasat J, Bulman A, Buchan BW, Burnham CD, Butler-Wu S, Desai U, Doern CD, Hanson KE, Henderson CM, Kostrzewa M, Ledeboer NA, Maier T, Pancholi P, Schuetz AN, Shi G, Wengenack NL, Zhang SX, Zelazny AM, Frank KM. Multicenter Study Demonstrates Standardization Requirements for Mold Identification by MALDI-TOF MS. Frontiers in Microbiology 2019;10:2098.
Layfield LJ, Hammer RD, White SK, Furtado LV, Schmidt RL. Molecular Testing Strategies for Pulmonary Adenocarcinoma: An Optimal Approach With Cost Analysis. Archives of Pathology and Laboratory Medicine 2019;143(5):628-633.
Lázár-Molnár E, Delgado JC. Implications of Monoclonal Antibody Therapeutics Use for Clinical Laboratory Testing. Clinical Chemistry 2019;65(3):393-405.
Liederman Z, Van Cott EM, Smock K, Meijer P, Selby R. Heparin-induced thrombocytopenia: An international assessment of the quality of laboratory testing. Journal of Thrombosis and Haemostasis 2019;17(12):2123-2130.
Lind T, Lejonklou MH, Dunder L, Kushnir MM, Öhman-Mägi C, Larsson S, Melhus H, Lind PM. Developmental low-dose exposure to bisphenol A induces chronic inflammation, bone marrow fibrosis and reduces bone stiffness in female rat offspring only. Environmental Research 2019;177:108584.
Maharjan AS, McMillin GA, Patel GK, Awan S, Taylor WR, Pai S, Frankel AE, Nelson C, Wang B, Hosein PJ, Singh AP, Khushman M. The Prevalence of DPYD*9A(c.85T>C) Genotype and the Genotype-Phenotype Correlation in Patients with Gastrointestinal Malignancies Treated With Fluoropyrimidines: Updated Analysis. Clinical Colorectal Cancer 2019;18(3):e280-e286.
Maharjan AS, Wyness SP, Ray JA, Willcox TL, Seiter JD, Genzen JR. Detection and characterization of estradiol (E2) and unconjugated estriol (uE3) immunoassay interference due to anti-bovine alkaline phosphatase (ALP) antibodies. Practical Laboratory Medicine 2019;17:e00131.
Margraf RL, VanSant-Webb C, Mao R, Viskochil DH, Carey J, Hanson H, D'Astous J, Grossmann A, Stevenson DA. NF1 somatic mutation in dystrophic scoliosis. Journal of Molecular Neuroscience 2019;68(1):11-18.
Mathison BA. [author/coauthor for: Anisakiasis, Ascariasis, Balantiosis, Capillariasis, Cryptosporidiosis, Cyclosporiasis, Echinococcosis, Enterobiasis, Fascioliasis, Fasciolopsiasis, Filariasis, Giardiasis, Liver Fluke Disease, Loiasis, Onchocerciasis, Pediculosis and Pthiriasis, Scabies, Tapeworm, Trichuriasis]. Control of Communicable Diseases: Laboratory Practice 2019.
Mathison BA. Loiasis. Pathology Outlines 2019;Online.
Mathison BA, Barnhill RL. Chapter 24: Helminth Infections. Barnhill's Dermatopathology, 4th ed 2019;686-698.
Mathison BA, Couturier MR, Pritt BS. Diagnostic Identification and Differentiation of Microfilariae. Journal of Clinical Microbiology 2019;57:e00706-19.
Mathison BA, Pritt BS. Medical Parasitology Taxonomy Update: 2016-2017. Journal of Clinical Microbiology 2019;57(2):e01067-18.
Matynia AP, Li KD, Szankasi P, Schumacher J, Liew M, Salama ME, Kelley TW. Molecular Fingerprinting of Anatomically and Temporally Distinct B-Cell Lymphoma Samples by Next-Generation Sequencing to Establish Clonal Relatedness. Archives of Pathology and Laboratory Medicine 2019;143(1):105-111.
McMillin G, Johnson-Davis K. Issues of interferences in therapeutic drug monitoring. Accurate Results in the Clinical Laboratory, 2nd Edition 2019;Ch13, 195-211.
McMillin G, Wadelius M, Pratt V. Pharmacogenetics. Tietz Fundamentals of Clinical Chemistry and Molecular Diagnostics, 8th Edition 2019;Ch46, 898-913.
Melis R, Mohamed J, Ha Y, Lyon E, McMillin G. Postmortem CYP2D6 Genotyping and Copy Number Determinations Using DNA Extracted from Archived FTA Bloodstains. Journal of Analytical Toxicology 2019;43(5):411-414.
Merrigan S, Johnson-Davis KL. Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS) Method to Quantify Gabapentin and Pregabalin in Urine. Methods in Molecular Biology. LC-MS in Drug Analysis, Methods and Protocols, Second Edition 2019;1872:119-127.
Merrigan SD, Johnson-Davis KL. A 6 Second Analytical Method for Quantitation of Tacrolimus in Whole Blood by Use of Laser Diode Thermal Desorption Tandem Mass Spectrometry. The Journal of Applied Laboratory Medicine 2019;3(6):965-973.
Metz TD, Silver RM, McMillin GA, Allshouse AA, Jensen TL, Mansfield C, Heard K, Kinney GL, Wymore E, Binswanger IA. Prenatal Marijuana Use by Self-Report and Umbilical Cord Sampling in a State with Legalization. Obstetrics & Gynecology 2019;133(1):98-104.
Milko LV, Funke BH, Hershberger RE, Azzariti DR, Lee K, Riggs ER, Rivera-Munoz EA, Weaver MA, Niehaus A, Currey EL, Craigen WJ, Mao R, Offit K, Steiner RD, Martin CL, Rehm HL, Watson MS, Ramos EM, Plon SE, Berg JS. Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future. Genetics in Medicine 2019;21(4):987-993.
Mohlman JS, Genzen JR, Weiss RL, Schmidt RL. Reliability and Validity of Proposed Risk Stratification Methods for Laboratory Developed Tests. Laboratory Medicine 2019;50(2):194-201.
Needham LL, Smy L, Lee MA, Kunzler TM, Genzen JR. Phlebotomy Tube Interference with Nuclear Magnetic Resonance (NMR) Lipoprotein Subclass Analysis. Clinica Chimica Acta 2019;488:235-24.
Panea RI, Love CL, Shingleton JR, Reddy A, Bailey JA, Moormann AM, Otieno JA, Ong'echa JM, Oduor CI, Schroeder KMS, Masalu N, Chao NJ, Agajanian M, Major MB, Fedoriw Y, Richards KL, Rymkiewicz G, Miles RR, Alobeid B, Bhagat G, Flowers CR, Ondrejka SL, Hsi ED, Choi WWL, Au-Yeung RKH, Hartmann W, Lenz G, Meyerson H, Lin YY, Zhuang Y, Luftig MA, Waldrop A, Dave T, Thakkar D, Sahay H, Li G, Palus BC, Seshadri V, Kim SY, Gascoyne RD, Levy S, Mukhopadyay M, Dunson DB, Dave SS. The whole-genome landscape of Burkitt lymphoma subtypes. Blood 2019;134(19):1598-1607.
Patel AB, Miles RR, Deininger MW. Lysozyme nephropathy in chronic myelomonocytic leukemia. Clinical Case Reports 2019;7(6):1263-1264.
Paulraj P, Diamond S, Razzaqi F, Ozeran D, Longhurst M, Andersen EF, Toydemir RM, Hong B. Pediatric acute myeloid leukemia with t(7;21)(p22;q22). Genes, Chromosomes & Caner 2019;58(8):551-557.
Pavlov IY, Parker RL, Lázár-Molnár E, Strathmann FG, Delgado JC. Inductively coupled plasma mass spectrometry assay for quantification of free infliximab in serum. Journal of Immunological Methods 2019;470:33-39.
Pearson ADJ, Scobie N, Norga K, Ligas F, Chiodin D, Burke A, Minard-Colin V, Adamson P, Marshall LV, Balakumaran A, Benettaib B, Bhargava P, Bollard CM, Bolotin E, Bomken S, Buechner J, Burkhardt B, Caron H, Copland C, Demolis P, Egorov A, Farhan M, Zugmaier G, Gross T, Horton-Taylor D, Klapper W, Lesa G, Marcus R, Miles RR, Nottage K, Pacaud L, Ricafort R, Schrappe M, Sterba J, Vezan R, Weiner S, Kim SY, Reaman G, Vassal G. ACCELERATE and European Medicine Agency Paediatric Strategy Forum for medicinal product development for mature B-cell malignancies in children. European Journal of Cancer 2019;110:74-85.
Pratt VM, Cavallari LH, Del Tredici AL, Hachad H, Ji Y, Moyer AM, Scott SA, Whirl-Carrillo M, Weck KE. Recommendations for Clinical CYP2C9 Genotyping Allele Selection: A Joint Recommendation of the Association for Molecular Pathology and College of American Pathologists. The Journal of Molecular Diagnostics 2019;21(5):746-755.
Purswani P, Meehan CA, Kuehn HS, Chang Y, Dasso JF, Meyer AK, Ujhazi B, Csomos K, Lindsay D, Alberdi T, Joychan S, Trotter J, Duff C, Ellison M, Bleesing J, Kumanovics A, Comeau AM, Hale JE, Notarangelo LD, Torgersen TR, Ochs HD, Sriaroon P, Oshrine B, Petrovic A, Rosenzweig SD, Leiding JW, Walter JE. Two Unique Cases of X-linked SCID: A Diagnostic Challenge in the Era of Newborn Screening. Frontiers in Pediatrics 2019;7:55.
Pyne MT, Tardif KD, Allen A, Sexsmith C, Lesher L, Adelman M, Janát-Amsbury MM, Schlaberg R. Clinical Performance of SurePath™ Preservative Compared to PreservCyt® with Cobas® and Hybrid Capture® 2 HPV Tests in a Colposcopy Population. Clinical Laboratory 2019;65(3):273-282.
Ravkov EV, Charlton CM, Barker AP, Hill H, Peterson LK, Slev P, Tebo A, Voelkerding KV, Wittwer CT, Heikal N, Delgado J, Lázár-Molnár E, Kumánovics A. Evaluation of Mass Cytometry in the Clinical Laboratory. Clinical Cytometry. Part B 2019;96(4):266-274.
Rets A, Clayton AL, Christensen RD, Agarwal AM. Molecular diagnostic update in hereditary hemolytic anemia and neonatal hyperbilirubinemia. International Journal of Laboratory Hematology 2019;41 Suppl 1:95-101.
Rovelli V, Manzoni F, Viau K, Pasquali M, Longo N. Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency. Molecular Genetics and Metabolism 2019;127(1):64-73.
Ruiz-Llorente L, Chiapparino E, Plumitallo S, Danesino C, Bayrak-Toydemir P, Pagella F, Manfredi G, Bernabeu C, Jovine L, Olivieri C. Characterization of a mutation in the zona pellucida module of Endoglin that causes hereditary hemorrhagic telangiectasia. Gene 2019;696:33-39.
Ruiz-Llorente L, McDonald J, Wooderchak-Donahue W, Briggs E, Chesnutt M, Bayrak-Toydemir P, Bernabeu C. Characterization of a family mutation in the 5' untranslated region of the endoglin gene causative of Hereditary Hemorrhagic Telangiectasia. Journal of Human Genetics 2019;64(4):333-339.
Rule GS, Rockwood AL, Johnson-Davis KL. LC-MS/MS Method for the Quantification of the Leflunomide Metabolite, Teriflunomide, in Human Serum/Plasma. Methods in Molecular Biology 2019;1872:75-83.
Santani A, Simen BB, Briggs M, Lebo M, Merker JD, Nikiforova M, Vasalos P, Voelkerding K, Pfeifer J, Funke B. Designing and Implementing NGS Tests for Inherited Disorders - a Practical Framework with Step-by-Step Guidance for Clinical Laboratories. The Journal of Molecular Diagnostics 2019;21(3):369-374.
Schwartz IS, Wiederhold NP, Hanson KE, Patterson TF, Sigler L. Blastomyces helicus, a New Dimorphic Fungus Causing Fatal Pulmonary and Systemic Disease in Humans and Animals in Western Canada and United States. Clinical Infectious Diseases 2019;68(2):188-195.
Shen W, Krautscheid P, Rutz AM, Bayrak-Toydemir P, Dugan SL. De novo loss-of-function variants of ASH1L are associated with an emergent neurodevelopmental disorder. European Journal of Medical Genetics 2019;62(1):55-60.
Shen W, Szankasi P, Durtschi J, Kelley TW, Xu X. Genome-Wide Copy Number Variation Detection Using NGS: Data Analysis and Interpretation. Methods in Molecular Biology 2019;1908:113-124.
Shi J, Dhaliwal P, Zi Zheng Y, Wong T, Straseski JA, Cervinski MA, Shajani-Yi Z, DeMarco ML. An Intact ACTH LC-MS/MS Assay as an Arbiter of Clinically Discordant Immunoassay Results. Clinical Chemistry 2019;65(11):1397-1404.
Smock KJ, Moser KA. What have we learned from coagulation laboratory participation in external quality programs? International Journal of Laboratory Hematology 2019;41 Suppl 1:49-55.
Snozek CLH, Corey RL, Buras MR, Johnson-Davis KL. False-positive serum cocaine screening results in patients undergoing evaluation for renal transplant. Journal of Analytical Toxicology 2019;43(7):587-590.
Sriaroon P, Chang Y, Ujhazi B, Csomos K, Joshi HR, Zhou Q, Close DW, Walter JE, Kumánovics A. Familial Immune Thrombocytopenia Associated With a Novel Variant in IKZF1. Frontiers in Pediatrics 2019;7:139.
Stenehjem DD, Hahn AW, Gill DM, Albertson D, Gowrishankar B, Merriman J, Agarwal AM, Thodima V, Harrington EB, Au TH, Maughan BL, Houldsworth J, Pal SK, Agarwal N. Predictive genomic markers of response to VEGF targeted therapy in metastatic renal cell carcinoma. PLoS One 2019;14(1):e0210415.
Talford III SR, Mathison BA. Chapter 151: Arthropods of Medical Importance. Manual of Clinical Microbiology, Twelfth Edition 2019;2:2620-2641.
Tebo AE. Laboratory Evaluation of Antiphospholipid Syndrome: An Update on Autoantibody Testing. Clinics in Laboratory Medicine 2019;39(4):553-565.
Tebo AE, Schmidt RL, Frech TM. Presence of Antitopoisomerase I Antibody Alone May Not Be Sufficient for the Diagnosis of Systemic Sclerosis. The Journal of Rheumatology 2019;46(4):440-442.
Van Cott EM, Smock KJ, Lippi G. Innovations in Thrombosis and Hemostasis: A Glimpse Towards the Future of Diagnostic Analyzers. Seminars in Thrombosis and Hemostasis 2019;45(3):225-227.
Wabuyele SL, McMillin GA. Quantitation of Ethyl beta-D-glucuronide in Human Umbilical Cord Tissue by Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS). The Second Edition of Methods in Molecular Biology - LC-MS in Drug Analysis 2019;1872:223-236.
Walker BS, Schmidt RL, Tantravahi S, Kim K, Hanson KE. Cost-effectiveness of antifungal prophylaxis, preemptive therapy, or empiric treatment following allogeneic hematopoietic stem cell transplant. Transplant Infectious Disease 2019;21(5):e13148.
Wang J, Xue J, Gong P, Wu M, Yang W, Jiang S, Wu Y, Jiang Y, Zhang Y, Yuzyuk T, Li H, Yang Z. The Effects of a Single Oral Dose of Pyridoxine on Alpha-Aminoadipic Semialdehyde, Piperideine-6-Carboxylate, Pipecolic Acid, and Alpha-Aminoadipic Acid Levels in Pyridoxine-Dependent Epilepsy. Frontiers in Pediatrics 2019;7:337.
Wiencek JR, Gehrie EA, Keiser A, Szklarski PC, Johnson-Davis KL, Booth GS. Detection of nicotine and metabolites in units of banked blood. American Journal of Clinical Pathology 2019;151(5):516-521.
Wiencek JR, McCartney CR, Chang AY, Straseski JA, Auchus RJ, Woodworth A. Challenges in the Assessment and Diagnosis of Polycystic Ovary Syndrome. Clinical Chemistry 2019;65(3):370-377.
Williams M, Lidke DS, Hartmann K, George TI. PD-L1 Expression in Mastocytosis. International Journal of Molecular Sciences 2019;20(9).
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