ARUP Journal Article Publications Archive—2013

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.

There are 151 total entries for the year 2013.

Grenache DG. Comparison of two multimarker serum tests for the prediction of ovarian cancer in women with a pelvic mass. Journal of Clinical Oncology 2013;31(suppl; abstract 5555).
Sederberg MC, Gu G, South ST. FISHing Efficiency: A Streamlined Approach to Reducing the Time and Reagents Required to Run Fluorescence in situ Hybridization Assays on Methanol-Acetic Acid Fixed Cells. Journal of the Association of Genetic Technologists 2013;39(1).
Straseski JA. Postdoctoral Professional Fellowships in Laboratory Medicine. Journal of the International Federation of Clinical Chemistry and Laboratory Medicine 2013;24(1).
Straseski JA. Sample Contamination. Advance for Administrators of the Laboratory 2013;22(3);24–26.
Lamb AN. Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes. European Journal of Human Genetics 2013;20(7):754–61.
Vaughn CP, Samowitz W. Recurrent and founder mutations in the PMS2 gene. Clinical Genetics 2013;83(3):238–43.
Jama MA, Paxton CN, Wilson AR, Gardiner AE, Lyon E, Geiersbach KB. Aneuploidy Detection in Paraffin Embedded Tissue from Products of Conception by Mini-STR Genotyping. Fetal and Pediatric Pathology 2013;32(2):133–50.
Coonrod EM, Durtschi JD, Margraf RL, Voelkerding KV. Developing genome and exome sequencing for candidate gene identification in inherited disorders: an integrated technical and bioinformatics approach. Archives of Pathology and Laboratory Medicine 2013;137(3):415–33.
Tripp SR, Layfield LJ. Atypical Intradermal Smooth Muscle Neoplasms (Formerly Cutaneous Leiomyosarcomas): Case Series, Immunohistochemical Profile and Review of the Literature. Applied Immunohistochemistry and Molecular Morphology 2013;21(2):135–141.
Bronner MP. MicroRNA expression patterns in indeterminate inflammatory bowel disease. Modern Pathology 2013;26(1):148–54.
Pasquali M,. Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia. Clinical Genetics 2013;83(5):422–31.
Longo N,. Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. Hepatology 2013;57(6):2171–9.
La'ulu SL, Roberts WL, Straseski JA. Performance characteristics of the ARCHITECT Galectin-3 assay. Clinical Biochemistry 2013;46(1–2):119–22.
Vaughn CP, Baker CL, Samowitz WS, Swensen JJ. The frequency of previously undetectable deletions involving 3’ exons of the PMS2 gene. Genes, Chromosomes and Cancer 2013;52(1):107–12.
Prchal JT. Decreased serum glucose and glycosylated hemoglobin levels in patients with Chuvash polycythemia: a role for HIF in glucose metabolism. Journal of Molecular Medicine 2013;91(1):59–67.
Layfield LJ. Rapid On-Site Evaluation Increases Endoscopic Ultrasound-Guided Fine-Needle Aspiration Adequacy for Pancreatic Lesions. Digestive Diseases and Sciences 2013;58(3):872–82.
Wallander ML, Layfield LJ, Tripp S. Gastrointestinal Stromal Tumors: Clinical Significance of p53 Expression, MDM2 Amplification, and KIT Mutation Status. Applied Immunohistochemistry and Molecular Morphology 2013;21(4):308–12.
Prchal JT. A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma. Journal of Molecular Medicine (Berlin) 2013;91(4):507–12.
Kushnir MM, Rockwood AL, Meikle AW. Age-Trends in Estradiol and Estrone Levels Measured Using Liquid Chromatography Tandem Mass Spectrometry in Community-Dwelling Men of the Framingham Heart Study. Journal of Endocrinology and Metabolism 2013;68(6):733–40.
Slechta ES, Barker A, Hanson KE. Large Scale Evaluation of the Immuno-Mycologics Inc. (IMMY) Lateral Flow and Enzyme-linked Immunoassays for the detection of Cryptococcal Antigen in Serum and Cerebrospinal Fluid. Clinical and Vaccine Immunology 2013;20(1):52–5.
Wyness SP, Williams WL, Straseski JA. Pediatric reference intervals for four serum bone markers using two automated immunoassays. Clinica Chimica Acta 2013;415:169–72.
Reading NS, Prchal JT. Unexplained extreme hyperbilirubinemia among neonates in a multihospital healthcare system. Blood Cells, Molecules and Diseases 2013;50(2):105–9.
Paxton CN, Brothman A, Geiersbach K. Rapid aneusomy detection in products of conception using the KaryoLite™ BACs-on-Beads™ assay. Prenatal Diagnostics 2013;33(1):25–31.
Wittwer CT. Monitoring Temperature with Fluorescence during Real-Time PCR and Melting Analysis. Analytical Biochemistry 2013;434(1):26–33.
McMillin GA. Evaluation of the NexScreen and DrugCheck Waive RT Urine Drug Detection Cups. Journal of Analytical Toxicology 2013;37(1):30–6.
Perkins SL. Outcome and pathologic classification of children and adolescents with mediastinal large B-cell lymphoma treated with FAB/LMB96 mature B-NHL therapy. Blood 2013;121(2):278–85.
Martins TB, Hill HR. Cell-based reporter gene assay for therapy-induced neutralizing antibodies to interferon-beta in multiple sclerosis. Journal of Interferon and Cytokine Research 2013;33(2):52–7.
Grenache DG. Limitations in qualitative point of care hCG tests for detecting early pregnancy. Clinica Chimica Acta 2013;415:317–21.
Szankasi P, Kelley TW. Detection of FLT3 internal tandem duplication in targeted, short-read-length, next-generation sequencing data. Journal of Molecular Diagnostics 2013;15(1):81–93.
Margraf RL, Coonrod EM, Durtschi JD, Augustine NH, Hill HR, Voelkerding KV, Kumánovics A. TACI mutation p.Lys154Ter identified in Good Syndrome. Clinical Immunology 2013;146(1):10–12.
Gu Y, Jensen PE. Immunodeficiency and autoimmunity in h2-o-deficient mice. Journal of Immunology 2013;190(1):126–37.
Damjanovich K, Lewis T, Bayrak-Toydemir P. Novel homozygous CYP1B1 deletion in siblings with primary congenital glaucoma. Journal of Ophthalmic Genetics 2013;34(3):180–1.
Smock KJ. Prolonged prothrombin time correlates with serum monoclonal protein concentration in patients with plasma cell dyscrasia. International Journal of Laboratory Hematology 2013;35(4):421–7.
Kelley TW, Szankasi P. BCR-ABL1 compound mutations in tyrosine kinase inhibitor resistant CML: frequency and clonal relationships. Blood 2013;121(3):489–98.
Bernard PS. Prognostic Significance of Progesterone Receptor-Positive Tumor Cells Within Immunohistochemically Defined Luminal A Breast Cancer. Journal of Clinical Oncology 2013;31(2):203–9.
Bernard PS. Prognostic Significance of Progesterone Receptor-Positive Tumor Cells Within Immunohistochemically Defined Luminal A Breast Cancer. Journal of Clinical Oncology 2013;31(2):203–9.
Bernard PS. A phase II study of UCN-01 in combination with irinotecan in patients with metastatic triple negative breast cancer. Breast Cancer Research and Treatment 2013;137(2):483–92.
Kushnir MM, Rockwood AL. LC-MS/MS in clinical laboratories. Bioanalysis 2013;5(1):5–6.
Longo N. A diversified approach for PKU treatment: routine screening yields high incidence of psychiatric distress in phenylketonuria clinics. Molecular Genetics and Metabolism 2013;108(1):8–12.
Prchal JT. Concomitant JAK2 V617F-positive polycythemia vera and B-cell chronic lymphocytic leukemia in three patients originating from two separate hematopoietic stem cells. American Journal of Hematology 2013;88(2):157–8.
Martins TB, Hill HR. Circulating pro-inflammatory cytokines are elevated and peak power output correlates with 25-hydroxyvitamin D in vitamin D insufficient adults. European Journal of Applied Physiolgy 2013;113(6):1523–34.
Szankasi P, Reading NS, Prchal JT, Bahler DW, Kelley TW. A quantitative allele-specific PCR test for the BRAF V600E mutation using a single heterozygous control plasmid for quantitation: A model for qPCR testing without standard curves. Journal of Molecular Diagnostics 2013;15(2):248–54.
Salama ME. NEK2 Induces Drug Resistance Mainly through Activation of Efflux Drug Pumps and Is Associated with Poor Prognosis in Myeloma and Other Cancers. Cancer Cell 2013;14;23(1):48–62.
Escobar H, Rockwood AL, Delgado JC. Regulation of HLA-DR peptide occupancy by histone deacetylase inhibitors. Human Vaccine Immunotherapy 2013;9(4).
Straseski JA, Strathmann FG. Patient Data Algorithms. Clinics in Laboratory Medicine 2013;33(1):147–160.
Bronner MP. Distinguishing Barrett gastric foveolar dysplasia from reactive cardiac mucosa in gastroesophageal reflux disease. Human Pathology 2013;44(6):1146–53.
Longo N. Psychiatric symptoms in adults with phenylketonuria. Molecular Genetics and Metabolism 2013;108(3):155–60.
Ridge PG, Bayrak-Toydemir P, Best DH, Mao R, Swensen JJ, Lyon E, Voelkerding KV. Cystic fibrosis testing in a referral laboratory: results and lessons from a six-year period. Journal of Clinical Bioinformatics 2013;3(1):3.
Lamb AN. 8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients. American Journal of Medical Genetics A 2013;161A(3):487–500.
Welch RJ, Couturier MR. Seropositivity Rates for Measles, Mumps, and Rubella IgG and Associated Cost with Testing and Revaccination. Clinical and Vaccine Immunology 2013;20(3):443–5.
Rockwood AL. Peak sweeping and gating using thermal gradient gas chromatography. Journal of Chromatography 2013;1278:160–5.
Straseski JA, Grenache DG. Facilitating the laboratory diagnosis of a1-antitrypsin deficiency. American Journal of Clinical Pathology 2013;139(2):184–91.
Prchal JT. Novel HIF2A mutations disrupt oxygen sensing, leading to polycythemia, paragangliomas, and somatostatinomas. Blood 2013;121(13):2563–6.
Tardif KD, Simmon KE, Pyne MT, Schlaberg R. Sequencing-Based Genotyping of Mixed Human Papillomavirus Infections Using RipSeq Software. Journal of Clinical Microbiology 2013;51(4):1278–80.
Tebo AE. Testing for Anti-reticulin Antibodies in Celiac Disease is Obsolete: A Review of Recommendations for Serologic Screening and the Literature. Clinical and Vaccine Immunology 2013;20(4):447–51.
Pasquali M. Diagnosing mucopolysaccharidosis IVA. Journal of Inherited Metabolic Disease 2013;36(2):293–307.
Bronner M. Molecular analysis of precursor lesions in familial pancreatic cancer. PLoS One 2013;8(1):e54830.
Bronner MP. Molecular analysis of precursor lesions in familial pancreatic cancer. PLoS One 2013;8(1):e54830.
Rodgers GM. How I manage patients with acquired haemophilia A. British Journal of Haematology 2013;161(2):157–65.
Bahler DW. Recurrent reciprocal RNA chimera involving YPEL5 and PPP1CB in chronic lymphocytic leukemia. Proceedings of the National Academy of Sciences of the United States of America 2013;110(8):3035–40.
Lamb AN. Neurogenetics. 2013 May;14(2):99-111. doi: 10.1007/s10048-013-0356-y. Epub 2013 Feb 7. MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways. Neurogenetics 2013;14(2):99–111.
Kelley TW, Prchal JT. Could hypoxia increase the prevalence of thrombotic complications in polycythemia vera? Blood Coagulation & Fibrinolysis 2013;24(3):311–316.
Kushnir MM, Rockwood AL, Roberts WL, Meikle AW. Measurement of Thyroglobulin by Liquid Chromatography/Tandem Mass Spectrometry in Serum and Plasma in the Presence of Anti-thyroglobulin Autoantibodies. Clinical Chemistry 2013;59(6):982–90.
Prchal JT. The phenotype of polycythemia due to Croatian homozygous VHL (571C>G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C>T:R200W). Haematologica 2013;98(4):560–7.
Bernard PS. PAM50 proliferation score as a predictor of weekly paclitaxel benefit in breast cancer. Breast Cancer Research and Treatment 2013;138(2):457–66.
Couturier MR, Hymas WC, Stevenson JB, Hillyard D. Evaluation of the FilmArray® Respiratory Panel for Clinical Use in a Large Children's Hospital. Journal of Clinical Laboratory Analysis 2013;27(2):148–54.
Kushnir MM. Perceived stress at work is associated with attenuated DHEA-S response during acute psychosocial stress. Psychoneuroendocrinology 2013;38(9):1650–7.
Layfield LJ. The influence of rapid onsite evaluation on the adequacy rate of fine-needle aspiration cytology: a systematic review and meta-analysis. American Journal of Clinical Pathology 2013;139(3):300–8.
Layfield LJ. Risk-benefit analysis of sampling methods for fine-needle aspiration cytology: a mathematical modeling approach. American Journal of Clinical Pathology 2013;139(3):336–44.
South ST. Familial KANK1 deletion that does not follow expected imprinting pattern. European Journal of Medical Genetics 2013;56(5):256–9.
Suh-Lailam BB, Haven TR, Jaskowski TD, Tebo AE. Anti-NMDA-Receptor Antibody Encephalitis: Performance Evaluation and Laboratory Experience with the Anti-NMDA-Receptor IgG Assay. Clinica Chimica Acta 2013;421:1–6.
Tripp SR. The Small GTPase ARF6 Stimulates ß-Catenin Transcriptional Activity During WNT5A-Mediated Melanoma Invasion and Metastasis. Science Signaling 2013;6(265):ra14.
Kelley TW. Nicotinic receptor alpha7 expression identifies a novel hematopoietic progenitor lineage. PLoS One 2013;8(3):e57481.
Lu J, Grenache, DG. An automated method for the measurement of total protein in homogenates of intestinal mucosa. Clinica Chimica Acta 2013;.
Grenache DG. Analytical and clinical validation of the Immulite 1000 hCG assay for quantitative analysis in urine. Clinica Chimica Acta 2013;421:104–8.
Rule GS, Clark ZD, Rockwood AL. Correction for isotopic interferences between analyte and internal standard in quantitative mass spectrometry by a nonlinear calibration function. Analytical Chemistry 2013;85(8):3879–85.
Straseski J. Thyroglobulin measurements in fine-needle aspiration cytology of lymph nodes for the detection of metastatic papillary thyroid carcinoma. Cancer Cytopathology 2013;121(8):440–8.
Pavlov IY, Delgado JC. Resampling model of the complement component functional assay: are we measuring what we think we are measuring? Clinica Chimica Acta 2013;421C:87–90.
Wittwer CT. Symmetric Snapback Primers for Scanning and Genotyping of the Cystic Fibrosis Transmembrane Conductance Regulator Gene. Clinical Chemistry 2013;59(7):1052–61.
Prchal JT. New Syndrome of Paraganglioma and Somatostatinoma Associated With Polycythemia. Journal of Clinical Oncology 2013;31(13):1690–8.
Pasquali M, Longo N. Response to Chen et Al.: carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation. Human Mutation 2013;34(4):656.
Prchal JT. Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer. Blood 2013;121(19):3918–24.
McMillin GA. Commentary. Clinical Chemistry 2013;59(4):616.
Couturier BA, Couturier MR, Kalp KJ, Fisher MA.. Detection of non-jejuni and -coli Campylobacter Species from Stool Specimens with an Immunochromatographic Antigen Detection Assay. Journal of Clinical Microbiology 2013;51(6):1935–7.
Grenache DG. Inappropriate use of qualitative, point-of-care urine human chorionic gonadotropin test. American Journal of Emergency Medicine 2013;31(6):992–3.
Jarboe EA. Characterization and Evaluation of Pre-clinical Suitability of a Syngeneic Orthotopic Mouse Ovarian Cancer Model. Anticancer Research 2013;33(4):1317–24.
Wittwer CT. The digital MIQE guidelines: Minimum Information for Publication of Quantitative Digital PCR Experiments. Clinical Chemistry 2013;59(6):892–902.
Travis J, Strathmann F, Booth G. Primary prevention of pediatric lead exposure requires new approaches to transfusion screening. Journal of Pediatrics 2013;163(3):855–9.
Ebbert MTW, Mallory MA, Wilson AR, Hillyard DR, Mallory MA, Wilson AR, Hillyard DR. Application of a new informatics tool for contamination screening in the HIV sequencing laboratory. Journal of Clinical Virology 2013;57(3):249–53.
Prchal JT. Treatment target in polycythemia vera. [Comment]. New England Journal of Medicine 2013;368(16):1555–6.
Martins TB, Hill HR. Higher serum 25-hydroxyvitamin d concentrations associate with a faster recovery of skeletal muscle strength after muscular injury. Nutrients 2013;5(4):1253–75.
Juenke JM, Johnson-Davis KL, McMillin GA. Simultaneous UPLC-MS/MS assay for the detection of the traditional antipsychotics haloperidol, fluphenazine, perphenazine, and thiothixene in serum and plasma. Clinica Chimica Acta 2013;423C:32–34.
Agarwal A. A neonate with Coombs-negative hemolytic jaundice with spherocytes but normal erythrocyte indices: a rare case of autosomal-recessive hereditary spherocytosis due to alpha-spectrin deficiency. Journal of Perinatology 2013;33(5):404–6.
Grenache DG. a1-Antitrypsin phenotypes and associated serum protein concentrations in a large clinical population. Chest 2013;143(4):1000–8.
Straseski J. Utility of a panel of sera for the alignment of test results in the worldwide multicenter study on reference values. Clinical Chemistry and Laboratory Medicine 2013;51(5):1007–25.
Longo N. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. American Journal of Medical Genetics 2013;50(7):463–72.
Samowitz W, Tripp S, Bronner MP. BRAF V600E mutation detection by immunohistochemistry in colorectal carcinoma. Genes, Chromosomes and Cancer 2013;52(8):748–52.
Wilson AR, Rodgers GM. Performance of a clinical prediction score for thrombotic thrombocytopenic purpura in an independent cohort. Vox Sanguinis 2013;105(4):313–8.
Dames S, Mao R. The Development of Next-Generation Sequencing Assays for the Mitochondrial Genome and 108 Nuclear Genes Associated with Mitochondrial Disorders. Journal of Molecular Diagnostics 2013;15(4):526–34.
Rowe LR, South ST. Molecular inversion probe array for the genetic evaluation of stillbirth using formalin-fixed, paraffin-embedded tissue. Journal of Molecular Diagnostics 2013;15(4):466–72.
Fisher M. Population Pharmacokinetics of Sirolimus in Pediatric Patients With Neurofibromatosis Type 1. Therapeutic Drug Monitoring 2013;35(3):332–337.
Rockwood AL. Isotopic distributions. Methods in Molecular Biology 2013;1007:65–99.
Couturier B, Schlaberg R. tcdA As a Diagnostic Target in a Loop-Mediated Amplification Assay for Detecting Toxigenic Clostridium difficile. Journal of Clinical Laboratory Analysis 2013;27(3):171–6.
Kushnir MM, Rockwood AL, Meikle AW. Circulating estrone levels are associated prospectively with diabetes risk in men of the Framingham Heart Study. Diabetes Care 2013;36(9):2591–6.
Wittwer CT. High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria. Molecular Genetics and Metabolism 2013;110(1–2):86–9.
Best H, Vaughn CP, Swensen JJ. Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies. Pediatric Blood and Cancer 2013;60(11):E135–6.
Heikal NM, Smock KJ. Laboratory testing for platelet antibodies. American Journal of Hematology 2013;88(9):818–21.
Pyne MT, Hillyard DR. Large-scale analysis of the prevalence and geographic distribution of HIV-1 non-B variants in the United States. Journal of Clinical Microbiology 2013;51(8):2662–9.
Prchal JT. Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia. British Journal of Haematology 2013;162(6):851–3.
Grenache DG. Multi-wavelength spectrophotometric analysis for detection of xanthochromia in cerebrospinal fluid and accuracy for the diagnosis of subarachnoid hemorrhage. Clinica Chimica Acta 2013;424C:231–236.
Perkins S. Rituximab pharmacokinetics in children and adolescents with de novo intermediate and advanced mature B-cell lymphoma/leukaemia: a Children's Oncology Group report. British Journal of Haematology 2013;162(5):678–8.
Pyne MT, Hillyard DR. Evaluation of the Roche COBAS AmpliPrep/COBAS TaqMan HCV Test. Diagnostic Microbiology and Infectious Disease 2013;77(1):25–30.
Agarwal AM. Emerging molecularly targeted therapies in castration refractory prostate cancer. Prostate Cancer 2013;2013:981684.
Strathmann FG. Elevated Urine Zinc Concentration Reduces the Detection of Methamphetamine, Cocaine, THC and Opiates in Urine by EMIT. Journal of Analytical Toxicology 2013;37(9):665–9.
Marin SJ, McMillin GA. Detection of in utero Marijuana Exposure by GC-MS, Ultra-sensitive ELISA, and LC-TOF/MS using Umbilical Cord Tissue. Journal of Analytical Toxicology 2013;37(7):391–4.
Rockwood AL. Dynamic thermal gradient gas chromatography. Journal of Chromatography 2013;1302:143–51.
Kelley TW, Reading S, Prhcal JT. Establishing optimal Quantitative-Polymerase chain reaction assays for routine diagnosis and tracking of minimal residual disease in JAK2-V617F associated myeloproliferative neoplasms: a joint european Leukemianet/ MPN&MPNr-EuroNet (COST Action BM0902)…. Leukemia 2013;27(10):2032–2039.
Escobar H, Rockwood AL, Delgado JC. ERAAP and Tapasin independiently edit the amino and carboxyl termini of MHC class I peptides. Immunity 2013;191(4):1547–55.
Frank EL. Thiamine pharmacokinetics in Cambodian mothers and their breastfed infants. American Journal of Clinical Nutrition 2013;98(3):839–44.
Liu A, Ardon O, Pasquali M, Longo N. The effect of valinomycin in fibroblasts from patients with fatty acid oxidation disorders. Biochemical and Biophysical Research Communications 2013;437(4):637–41.
Wittwer C. Stopped-Flow DNA Polymerase Assay by Continuous Monitoring of dNTP Incorporation by Fluorescence. Analytical Biochemistry 2013;441(2):133–9.
Nussenzveig RH, Reading NS, Agarwal AM, Prchal JT. Acute Kernicterus in a Neonate With O/B Blood Group Incompatibility and a Mutation in SLC4A1. Pediatrics 2013;132(2):e531–4.
Prchal JT. ß-thalassemia due to intronic LINE-1 insertion in the ß-globin gene (HBB): molecular mechanisms underlying reduced transcript levels of the ß-globin L1 allele. Human Mutation 2013;34(10):1361–5.
Perkins SL. Disseminated lymphoblastic lymphoma in children and adolescents: results of the COG A5971 trial: a report from the Children's Oncology Group. British Journal of Haematology 2013;162(6):792–801.
Coonrod EM, Margraf RL, Voelkerding KV. Clinical analysis of whole genome NGS data using the Omicia platform. Expert Review of Molecular Diagnostics 2013;13(6):529–40.
Wittwer CT, Herrmann MG. Continuous fluorescence monitoring of rapid cycle DNA amplification. 1997. Biotechniques 2013;54(6):314–20.
Prchal JT. Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopenia. Journal of Clinical Immunology 2013;33(7):1150–5.
Kushnir MM. Are samples in your freezer still good for biomarker discovery? American Journal of Clinical Pathology 2013;140(3):287–8.
Agarwal AM, Nussenzveig RH. Identification of One or Two a-Globin Gene Deletions by Isoelectric Focusing Electrophoresis. Journal of Clinical Pathology 2013;140(3):301–5.
Wooderchak-Donahue WL, Bayrak-Toydemir P. BMP9 Mutations Cause a Vascular-Anomaly Syndrome with Phenotypic Overlap with Hereditary Hemorrhagic Telangiectasia. American Journal of Human Genetics 2013;93(3):530–7.
Khot PD, Fisher MA. Novel approach for differentiating Shigella species and Escherichia coli by MALDI-TOF mass spectrometry. Journal of Clinical Microbiology 2013;51(11):3711–6.
Ravkov E. Identification and validation of shrimp-tropomyosin specific CD4 T cell epitopes. Human Immunology 2013;74(12):1542–9.
Kushnir MM. The impact of nandrolone decanoate and growth hormone on biosynthesis of steroids in rats. Steroids 2013;78(12–13):1192–1199.
Rockwood AL, Kushnir MM. Perceived stress at work is associated with lower levels of DHEA-S. Psychoneuroendocrinology 2013;8(8):e72460.
Perkins SL. Rasburicase in the prevention of laboratory/clinical tumour lysis syndrome in children with advanced mature B-NHL: a Children's Oncology Group Report. British Journal of Haematology 2013;163(3):365–72.
Pasquali M, Longo N. Evidence-Based Treatment of Guanidinoacetate Methyltransferase (GAMT) Deficiency. Molecular Genetics and Metabolism 2013;110(3):255–62.
Prchal JT, Agarwal AM, Nussenzveig RH. Novel exon 2 a spectrin mutation and intragenic crossover: three morphological phenotypes associated with four distinct a spectrin defects. Haematologica 2013;98(12):1972–9.
Bronner MP. Clonal expansions and short telomeres are associated with neoplasia in early-onset, but not late-onset, ulcerative colitis. Inflammable Bowel Disease 2013;19(12):2593–602.
Layfield LJ.. Fine-needle aspiration cytology for the diagnosis of metastatic melanoma: systematic review and meta-analysis. American Journal of Clinical Pathology 2013;140(5):635–42.
Heikal N, Murphy KK, Crist RA, Wilson AR, Rodgers GM, Smock KJ. Elevated factor IX activity is associated with an increased odds ratio for both arterial and venous thrombotic events. American Journal of Clinical Pathology 2013;140(5):680–5.
Coonrod EM, Kumanovics A, Durtschi JD, Margraf RL, Heikal NM, Augustine NH, Hill HR, Voelkerding KV. Germline Mutations in NFKB2 Implicate the Noncanonical NF-?B Pathway in the Pathogenesis of Common Variable Immunodeficiency. American Journal of Human Genetics 2013;93(5):812–24.
Mokhtarani M. Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio. Molecular Genetics and Metabolism 2013;110(4):446–53.
McMillin GA, Slawson MH, Marin SJ, Johnson-Davis KL. Demystifying Analytical Approaches for Urine Drug Testing to Evaluate Medication Adherence in Chronic Pain Management. Journal of Pain and Palliative Care Pharmacotherapy 2013;27(4): 322–339.
Jarboe EA. Mucoadhesive hybrid gel improves intraperitoneal platinum delivery. International Journal of Pharmaceutics 2013;458(1):148–55.
Genzen JR. Analysis of vitamin D status at two academic medical centers and a national reference laboratory: result patterns vary by age, gender, season, and patient location. BMC Endocrine Disorders 2013;13(1):52.
Geiersbach K. A mill based instrument and software system for dissecting slide-mounted tissue that provides digital guidance and documentation. BMC Clinical Pathology 2013;13(1):2.
Grenache DG. Authors' Response to "Alpha1-antitrypsin level and pheno/genotypes" [Letter to the editor]. Chest 2013;144(5):1733–4.
Reading NS, Prchal JT. Neonatal death suspected to be from sepsis was found to be kernicterus with G6PD deficiency. Pediatrics 2013;132(6).
Durtshi J, Margraf RL, Coonrod EM, Mallempati KC, Voelkerding KV. VarBin, a novel method for classifying true and false positive variants in NGS data. BMC Bioinformatics 2013;14 Suppl 13:S2.
Perkins SL, Tripp S. Rb1 loss modifies but does not initiate alveolar rhabdomyosarcoma. Skeletal Muscle 2013;3(1):2.
Prchal JT. Interim analysis of safety and efficacy of ruxolitinib in patients with myelofibrosis and low platelet counts. Journal of Hematology and Onoclogy 2013;6(1):81.
Rodgers GM. Developmental hemostasis: age-specific differences in the levels of hemostatic proteins: a rebuttal. Journal of Thrombosis and Haemostasis 2013;.
Perkins SJ. Developing and mature human granulocytes express ELP 6 in the cytoplasm. Human Antibodies 2013;22(1–2):21–9.
Coonrod EM. Homotypic vacuole fusion in yeast requires organelle acidification and not the V-ATPase membrane domain. Developmental Cell 2013;27(4):462–8.
Wittwer CT. Fluorescence-Based Temperature Control for PCR. Analytical Biochemistry 2013;448C:75–81.
Frank EL. Comparison of plasma free metanephrines between healthy dogs and 3 dogs with pheochromocytoma. Veterinary Clinical Pathology 2013;42(4):499–503.
Mao R. Novel molecular aberrations and pathologic findings in a tubulocystic variant of renal cell carcinoma. Indian Journal of Pathology and Microbiology 2013;56(4):428–433.