Posters and Presentations
Each year, the ARUP Institute for Clinical and Experimental Pathology® presents at more than 200 conferences, workshops, annual meetings, and symposiums for several national and international organizations. Recent posters and presentations are listed below.
American Society for Microbiology (ASM) Clinical Virology Symposium
Savannah, GA, May 5-8, 2019
Shakir SM, Hillyard DR – Poster
Shakir SM, Mansfield CR, Hays ED, Hillyard DR. Evaluation of a multiplex tick-borne pathogen (TBP) panel for the detection of tick-borne pathogens from whole blood and synovial fluid.
International Society for Laboratory Hematology (ISLH)
Vancouver, Canada, May 9-11, 2019
Crist RA, Rodgers GM, Smock KJ, Moser KA – Poster
Crist RA, Rodgers GM, Smock KJ, Moser KA. Real world results from an ADAMTS13 reflexive panel performed in a reference laboratory.
Curating the Clinical Genome
Washington, DC, May 29-31, 2019
Andersen E – Presentation
Herriges J, Andersen E, Coe B, Conlin L, Goodenberger M, Hilton B, Jobanputra V, Kearney H, Levy B, Paulraj P, Riggs ER, Rowsey R, Speevak M, Pasion R, Runke C, Schleede J, Toner K, Thorland E, Martin CL, on behalf of the Clinical Genome Resource (ClinGen). Constructing a quantitative metric for evaluating the clinical significance of recurrent copy number variants.
Hong B, Lamb AN, Toydemir R, Xu X, Andersen EF – Presentation
Lewis ZK, Tidwell T, Clayton A, Cox JL, Hong B, Lamb AN, Quigley DI, Schiltz R, Toydemir R, Xu X, Andersen EF. Establishing an intralaboratory copy number variant conflict resolution process using ClinGen Dosage Sensitivity Map scores and internal classification discrepancies to improve retrospective data analyses and submissions to ClinVar.
Academy of Clinical Laboratory Physicians and Scientists (ACLPS)
Salt Lake City, UT, May 30 – June 1, 2019
Wyness SP, Genzen J, Johnson-Davis KL – Poster
Calvaresi EC, Wyness SP, Jackson A, Genzen J, Johnson-Davis KL. Assessing propylene glycol interference at concentrations relevant to serum levels with electronic cigarette use in an enzymatic ethylene glycol assay.
Johnson LM – Poster
Goold E, Johnson LM. Trends of fecal calprotectin and lactoferrin results for infants.
American Society for Clinical Pathology (ASCP) Webinar Series
Webinar, April 22, 2019
Mathison BA – Presentation
Mathison BA. Morphologic identification of plasmodium and babesia.
American College of Medical Genetics and Genomics (ACMG)
Seattle, WA, April 2 – 6, 2019
Lamb A, Hong B, Andersen E – Poster
Al-Sweel N, Openshaw A, Lamb A, Hong B, El-Hattab A, Andersen E. Typical and atypical duplications within the recurrent Xq28 int22h1/int22h2-flanked region to expand genotype-phenotype correlation.
Procter M, Briggs E, Mao R – Poster
Procter M, Briggs E, Mao R. A methylation-specific MLPA for Beckwith-Wiedemann and Russell-Silver syndromes.
Andersen E – Poster
Herriges J, Hilton B, Rowsey R, Andersen E. ClinGen recurrent copy number variant annotation file to aid clinical interpretation during genomic analysis.
Bayrak-Toydemir P – Poster
Dickson A, Zeyghami A, Bayrak-Toydemir P, Steinberg S. Clinical utility of inherited periodic fever testing for a diverse patient group.
Pham HT, Briggs E, Pont-Kingdon G, Ji Y – Poster
Pham HT, Briggs E, Pont-Kingdon G, Ji Y. Detection of pathogenic variants in SMN1 by Sanger sequencing allows maximum clinical sensitivity of SMA testing.
Morrison MA, Briggs E, Procter M, Pont-Kingdon G, Mao R – Poster
Morrison MA, Briggs E, Procter M, Pont-Kingdon G, Mao R. Development of a GBA Sanger sequencing assay to diagnose Gaucher disease.Kushnir MM, Kushnir VA, Straseski JA. Association of free and total 25 hydroxy vitamin D with biomarkers of polycystic ovary syndrome.
Mao R, Bayrak-Toydemir P, Best DH, Lyon E, Ji Y – Presentation
Tvrdik T, Miller C, Mao R, Bayrak-Toydemir P, Best DH, Lyon E, Ji Y. Diagnostic yields of clinical testing for skeletal dysplasia disorders using different methods.
Mao R, Andersen E, Toydemir R, Lamb AN, Lyon E, Ji Y – Poster
Anderson HS, Openshaw A, LaGrave D, Bosworth M, Baldwin E, Hilton B, Xiong W, Kusukawa N, Mao R, Andersen E, Toydemir R, Lamb AN, Lyon E, Ji Y. Incidental findings of maternal Y chromosome material from non-invasive prenatal testing.
Bayrak Toydemir P, Ji Y – Poster
Dickson A, Zeyghami A, Bayrak Toydemir P, Ji Y. Molecular diagnosis of retinal dystrophies using a multi-gene NGS panel.
Andersen E – Poster
Riggs ER, Andersen E, Cherry AM, Kantarci S, Kearney S, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL. Standards for the classification and reporting of constitutional copy number variants: A ClinGen/ACMG joint consensus recommendation.
Mao R, Andersen E, Toydemir R, Lamb AN, Lyon E, Ji Y– Poster
Anderson HS, Openshaw A, LaGrave D, Bosworth M, Baldwin EE, Hilton B, Xiong W, Kusukawa N, Mao R, Andersen E, Toydemir R, Lamb AN, Lyon E, Ji Y. Presence of Y chromosome sequences in maternal DNA can cause incorrect fetal sex determination in non-invasive prenatal testing.
Ji Y – Presentation
Ji Y. Clinical laboratory-based career paths.
Pasquali M, Longo N – Poster
Ingoglia F, Chong J, Pasquali M, Longo N. Creatine metabolism in patients with urea cycle disorders.
Mass Spectrometry: Applications to the Clinical Laboratory (MSACL)
Palm Springs, CA, March 31 – April 4, 2019
Kushnir MM, Straseski JA – Presentation
Kushnir MM, Kushnir VA, Straseski JA. Association of free and total 25 hydroxy vitamin D with biomarkers of polycystic ovary syndrome.
Thomas R, Johnson-Davis K – Poster
Kroner GM, Thomas R, Johnson-Davis K. Development of LC-MS/MS assay for oxcarbazepine and retrospective analysis of pediatric vs. adult populations.
Johnson-Davis KL – Poster
Wiencek JR, Gehrie EA, Keiser AM, Szklarski PC, Johnson-Davis KL, Booth GS. Mass spectrometry: applications to the hospital blood bank.
Ray JA, Rule GS, Straseski JA – Poster
Ray JA, Rule GS, Straseski JA. Measuring low levels of non-derivatized estrogens by LC-MS/MS in negative ESI mode: what to watch for.
Thomas RL, Gravenstreter A – Poster
Thomas RL, Gravenstreter A, Shahrokh K. A comparison of phospholipid removal methods & plates.
HIV Dynamics and Evolution
Cascais, Portugal, March 24-27, 2019
Pyne MT, Hillyard DR – Poster
Hong SL, Pyne MT, Hillyard DR, Baele G, Lemey P. Identifying the drivers of spatial spread of HIV-1 subtype in the US.
First Coast ID/CM Symposium
Palm Coast, FL, February 1-2, 2019
Mathison BA – Presentation
Mathison BA. Case studies in parasitology.
American Federation for Medical Research, Western Regional Meeting (AFMR)
Carmel, CA, January 24-26, 2019
Martins TB, Hill HR—Poster
Martins TB, Craig RB, Atanackovic D, Hill HR. Cytokine profiling for the differentiation of multiple myeloma from patients with monoclonal gammopathy with unknown significance.
Gastrointestinal Cancers Symposium (ASCO)
San Francisco, CA, January 17-19, 2019
McMillin GA—Poster
Awan S, Patel GK, Maharjan AS, McMillin GA, Taylor W, Pai S, Frankel A, Cameron D, Smith C, Grimm L, Rider P, Hunter J, Liles S, Nelson C, Wang B, Hosein PJ, Singh A, Khushman M. Germline pharmacogenomics of thymidylate synthase gene (TYMS) in patients with gastrointestinal (GI) malignancies treated with fluoropyrimidines-based chemotherapy regimens.
McMillin GA—Poster
Maharjan AS, McMillin GA, Patel GK, Awan S, Taylor W, Pai S, Frankel A, Nelson C, Wang B, Hosein PJ, Singh A, Khushman M. The correlation between DPYD*9A (c.85T>C) genotype and dihydropyrimidine dehydrogenase deficiency phenotype in patients with gastrointestinal malignancies treated with fluoropyrimidines: updated analysis.
American Society of Hematology (ASH)
San Diego, CA, December 1-4, 2018
Agarwal AM, Patel JL, Reading NS—Poster
Agarwal AM, Clayton A, Patel JL, Reading NS. Use of next generation sequencing panel for routine diagnosis of hereditary hemolytic anemias.
International Congress of Endocrinology (ICE)
Cape Town, South Africa, December 1-4, 2018
Kushnir MM, Straseski JA—Poster
Kushnir MM, Straseski JA. Free 25 hydroxy vitamin D (25OHD) is lower than total 25OHD in pregnancy: clinical utility of a novel LC-MS/MS method for free 25OHD.
Society for Neuro-Oncology (SNO)
New Orleans, LA, November 15-18, 2018
Hellwig S, Bronner MP—Poster
Underhill HU, Hellwig S, Nix DA, Bhetariya PJ, Fuertes C, Marth GT, Colman H, Bronner MP, Jensen RL. The non-invasive detection of glioblastoma-derived cell-free DNA in plasma using next-generation sequencing and an untargeted variant search.
Association for Molecular Pathology (AMP)
San Antonio, TX, November 1-3, 2018
Paxton CN, Raney J, Bastien R, Close DW, Best H—Poster
Paxton CN, Rhodenizer D, Raney J, Bastien R, Close DW, Best H. Nucleic acid quantification and smear analysis for fully-automated NGS workflows.
Pringle DR, Lalonde MS, Erali M, Matynia AP—Poster
Pringle DR, Lalonde MS, Erali M, Matynia AP. Sanger sequencing method for the detection of extended RAS and BRAF with an LOD of 10%.
Zhou W, Witt B, Rowe L, Chadwick B, Deftereos G—Poster
Zhou W, Witt B, Rowe L, Stanchfield J, Chadwick B, Deftereos G. Validation of cobas® HR-HPV genotyping assay head and neck squamous cell carcinoma FFPE specimens.
Tardif KD, Kharidia P, Hillyard DR—Poster
Underhill HU, Hellwig S, Nix DA, Bhetariya PJ, Fuertes C, Marth GT, Colman H, Bronner MP, Jensen RL. The non-invasive detection of glioblastoma-derived cell-free DNA in plasma using next-generation sequencing and an untargeted variant search.
College of American Pathologists (CAP)
Chicago, IL, October 20-24, 2018
Smock KJ—Presentation
Olson JD, Smock KJ. Coagulation testing: how do we get the best results?
Smock KJ—Presentation
Smock KJ. Coagulation testing quality: how to recognize and minimize anticoagulant interferences.
American College of Rheumatology (ACR)/ Association of Rheumatology Health Professionals (ARHP)
Chicago, IL, October 19-24, 2018
Tebo AE—Poster
Wright JB, Lebiedz-Odrobina D, Scholand MB, Tebo AE, Frech TM. Clinical features and timing of studies in interstitial lung disease with autoimmune disease features: do autoantibody panels improve diagnostic yields and/or increase costs?
American Society of Human Genetics (ASHG)
San Diego, CA, October 16-20, 2018
Jama M, Milson A, Sumner K, Pont-Kingdon G, Ji Y—Poster
Jama M, Milson A, Sumner K, Pont-Kingdon G, Ji Y. Application of noncontinuously binding (loop-out) oligonucleotide primers to avoid a polyT region in the untranslated region of SHOX gene exon 1.
Andersen E—Poster
Andersen E*, Burnside R*, Coe B, Conlin L, Herriges J, Higginbotham T, Hilton B, Goodenberger M, Jobanputra V, Kearney H, Ouyang K, Paulraj P, Riggs ER, Rowsey R, Runke C, Speevak M, Thorland E, Zhang L, Martin C, on behalf of the Clinical Genome Resource (ClinGen) (*Equal contribution). Constructing a framework for evaluating recurrent CNVs with reduced penetrance or variable expressivity: a guide for clinical interpretation.
Deshotel MJ, Pont-Kingdon G, Lyon E—Poster
Deshotel MJ, Pont-Kingdon G, Lyon E. Investigating PRSS1 copy number variants showing MLPA peak height ratio sensitivity.
Margraf RL, Mao R—Poster
Margraf RL, Mao R. Detection of stereocilin (STRC) gene deletions by multiplex digital droplet PCR.
Infectious Diseases Society of America (IDSA) - IDWeek2018
San Francisco, CA, October 3-7, 2018
Shakir SM, Couturier MR—Poster
Shakir SM, Otiso J, Keller G, Van Heule H, Kohner P, Cole N, Schuetz AN, Richter SS, Couturier MR. Multicenter evaluation of the Etest versus agar dilution for susceptibility testing of helicobacter pylori.
American Society for Histocompatibility and Immunogenetics (ASHI)
Baltimore, MD, October 1-5, 2018
Profaizer T, Stevenson J, Close DW, Slev P—Poster
Profaizer T, Stevenson J, Close DW, Slev P. A real-time triplex assay for quantifying t-cell receptor excision circles, kappa-deleting b-cell excision circles, and beta actin.
Profaizer T, Margraf RL, Delgado JC, Lazar-Molnar E, Kumanovics A—Poster
Profaizer T, Margraf RL, Delgado JC, Lazar-Molnar E, Kumanovics A. Developing an assay to detect and quantify donor-derived DNA in the blood and urine of solid organ transplant recipients.
Profaizer T, Kumanovics A, Delgado JC, Lazar-Molnar E—Poster
Profaizer T, Pole A, Monds C, Kumanovics A, Delgado JC, Lazar-Molnar E. HLA disease association testing by NGS: is it superior to other methods?
International Clinical Cytometry Society (ICCS)
Portland, OR, September 30—October 3, 2018
Ravkov E, Hill H, Lazar-Molnar E—Poster
Ravkov E, Jolly B, Hill H, Lazar-Molnar E. Lymphocyte proliferation in vitro in response to tetanus and candida antigens by flow cytometry: validation of major test parameters for the clinical laboratory.
Next Generation Diagnostics Summit
Washington, DC, August 21-24, 2018
Ardon O—Presentation
Ardon O. Development of computer assisted diagnostics based testing in the clinical laboratory.
Association of Medical Laboratory Immunologists (AMLI)
Scottsdale, AZ, August 17-20, 2018
Haven TR, Peterson LK—Poster
Haven TR, Peterson LK. A retrospective evaluation of aquaporin-4 antibody testing.
Jaskowski TD, Tebo AE—Poster
Jaskowski TD, Tebo AE. A revisit of the diagnostic performance of anti-ssDNA IgG antibodies and the significance of the ssDNA/dsDNA ratio.
Pavlov IY, Kumanovics A, Delgado JC—Poster
Pavlov IY, Kumanovics A, Delgado JC. Can we optimize "staircase" reference intervals?
Martins TB, Hill HR, Peterson LK—Poster
Martins TB, Hill HR, Peterson LK. Evaluation of an alternative haemophilus influenza type B antigen for measuring vaccine response in a multiplexed assay.
American Association for Clinical Chemistry (AACC)
Chicago, IL, July 29–August 2, 2018
Kushnir MM, Straseski JA—Poster
Kushnir MM, Straseski JA. A novel method for free 25 hydroxy (25OHD) vitamin D measurement by LC-MS/MS: free 25OHD associated with PTH and calcium better than total 25OHD.
La'ulu SL, Genzen JR—Poster
La'ulu SL, Warner K, Fisher KC, Genzen JR. Comparison of results from paired specimens collected in BD Vacutainer barricor plasma collection tubes and BD Vacutainer PST tubes.
Lu J, Genzen JR—Poster
Lu J, Genzen JR, Grenache DG. Development of an enzymatic assay to measure lactate in perchloric acid-precipitated cerebrospinal fluid.
Hunsaker JJH, Wyness SP, Genzen JR—Poster
Hunsaker JJH, Wyness SP, Genzen JR. Evaluation of L-Index interference limits on Roche cobas c502 and c702 Immunoturbidimetric assays using endogenously lipemic specimens.
Kushnir MM, La'ulu SL, Straseski JA—Poster
Kushnir MM, La'ulu SL, Straseski JA. Free 25 hydroxy vitamin D by LC-MS/MS: reference intervals in healthy adults and observations in pre-/post-menopausal women.
Erickson JA—Poster
Erickson JA, Jung TI, Choi MA, Grenache DG. Lipoprotein particle stability in serum for nuclear magnetic resonance analysis.
Taylor L, Johnson-Davis KL—Poster
Maharjan AS, Taylor L, Johnson-Davis KL. Multiple drug classes and metabolites: qualitative analysis in serum/plasma by LC-MS/MS.
Lozier B, Yuzyuk T, Pasquali M, De Biase I—Poster
Lozier B, Yuzyuk T, Chong J, Pasquali M, De Biase I. Quantitative analysis of organic acids in plasma using acidified methanol extraction and detection by gas chromatography-mass spectrometry.
McMillin G—Poster
Smy L, McMillin G. Urine buprenorphine and metabolite patterns in a large cohort of patients.
Melis R, Donahue WL, McMillin GA—Poster
Gherasim C, Melis R, Donahue WL, McMillin GA. Genotyping of selected alleles involved in tramadol metabolism provide evidence for additional factors beyond CYP2D6-inffered phonotype that may contribute to observed metabolite patterns.
International Society on Thrombosis and Haemostasis (ISTH)
Dublin, Ireland, July 18–21, 2018
Smock K—Poster
Liederman Z, Van Cott EM, Smock K, Meijer P, Selby R. Heparin-induced thrombocytopenia: an international assessment of the quality of laboratory testing.
American Society for Mass Spectrometry (ASMS)
San Diego, CA, June 3–7, 2018
Merrigan SD, Johnson-Davis KL—Poster
Merrigan SD, Johnson-Davis KL. A 6-second analytical method for quantitation of tacrolimus in whole blood using laser diode thermal desorption tandem mass spectrometry.
ASM Microbe
Atlanta, GA, June 7–11, 2018
Fisher MA—Poster
Prasidthrathsint K, Fisher MA. Comparison of methods for broth microdilution antimicrobial susceptibility testing of lipophilic corynebacterium spp.
Rossi A, Fisher MA—Poster
Rossi A, Fisher MA. Characterization of clinical isolates representing a novel genus within the Yersiniaceae family.
American Cytogenetics Conference (ACC)
Snowbird, UT, June 10–13, 2018
Toydemir, Andersen E—Presentation
Zockle J, Chandler B, Delgado K, Quigley D, Toydemir, Andersen E. An evidence-based approach to guide IGH-based reflex testing for plasma cell neoplasms.
Andersen E—Presentation
Andersen E, Burnside R, Coe B, Conlin L, Herriges J, Higginbotham T, Hilton B, Jobanputra V, Kearney H, Ouyang K, Paulraj P, Riggs ER, Rowsey R, Speevak M, Thorland E, Zhang L, Martin CL, on behalf of the Clinical Genome Resource (ClinGen). Dosage sensitivity curation of recurrent copy number variant regions.
Longhurst M, Hong B—Presentation
Hilton B, Scharnhorst D, Longhurst M, O'Brien K, Xu S, Hong B. Identification of a cryptic PAX7-FOXO1 rearrangement and characterization of subsequent amplification using genomic microarray in a case of alveolar rhabdomyosarcoma.
Longhurst MC, Andersen EF, Prchal J, Toydemir RM, Hong B—Poster
Paulraj P, Tantravahi S, Reddy A, Longhurst MC, Andersen EF, Prchal J, Toydemir RM, Hong B. Ring chromosome 7 in patients with dysplastic features in bone marrow.
American Society for Cytotechnology (ASCT)
Salt Lake City, UT, May 4–6, 2018
Ardon O—Presentation
Ardon O. The history of the microscope and the evolution of digital imaging.
Clinical Virology Symposium (CVS)
West Palm Beach, FL, May 6–9, 2018
Tardif KD, Hillyard DR—Poster
Tardif KD, Hillyard DR. Comparison of the Hologic Aptima HBV Quant and Roche COBAS AmpliPrep/COBAS Taqman HBV assays.
Mallory MA, Hymas WC, Lunt T, Nguyen K, Hillyard DR, Hanson KE, Barker AP—Poster
Mallory MA, Hymas WC, Simmon KE, Manivannan M, Tom W, Lunt T, Nguyen K, Hillyard DR, Hanson KE, Barker AP. Detection of CMV resistance-associated mutations in UL27, UL54, UL56 and UL97 by next-generation sequencing (NGS).
Pyne MT, Mallory M, Hymas W, Nguyen K, Lunt T, Barker A, Hillyard DR—Poster
Pyne MT, Lin L, Simmon KE, Mallory M, Hymas W, Nguyen K, Lunt T, Barker A, Hillyard DR. Development of a drug resistance sequencing test for HIV-1 using Ampliseq and Ion Torrent technology.
Mallory MA, Hymas WC, Hillyard DR—Poster
Mallory MA, Hymas WC, Ebbert MTW, Hillyard DR. Frequency of rare and recombinant HCV strains in a large unselected us population.
Welch RJ, Slev P, Couturier MR—Poster
Welch RJ, Ping R, Loeffelholz M, Slev P, Couturier MR. Prospective detection of anti-Zika IgM antibodies in the United States using two commercially manufactured emergency use authorization classified assays.
Schlaberg R—Poster
Ferguson S, Langer J, Barnes N, Schlaberg R. Comparison of two kits for the detection of herpes simplex virus by direct specimen testing and culture confirmation.
Cold Spring Harbor Meeting: The Biology of Genomes
Cold Spring Harbor, NY, May 8–12, 2018
Hellwig S, Bronner MP—Poster
Bhetariya P, Nix DA, Hellwig S, Marth G, Bronner MP, Underhill HR. Somatic variant calling pipeline for detection of tumor-derived very low frequency variants in cell-free DNA: SomaticTriCaller..
International Congress on Autoimmunity
Lisbon, Portugal, May 16–20, 2018.
Jaskowski TD, Peterson LK, Tebo AE—Poster
Jaskowski TD, Knapp DD, Stromberg B, Peterson LK, Tebo AE. Assessment of an automated indirect immunofluorescence reader for the detection and reporting of antinuclear antibodies.
Tebo AE—Poster
Tebo AE, Schmidt RL, Frech TM. Presence of anti-topoisomerase I antibody alone is not sufficient for the diagnosis of systemic sclerosis.
European Immunogenetics and Histocompatibility Conference
Venice Lido, Italy, May 9–12, 2018
Lazar-Molnar E, Andersen E, Profaizer T, Delgado JC—Poster
Lazar-Molnar E, Ellinger L, Williams K, Pole A, Andersen E, Profaizer T, Duke JL, Ferriola D, Delgado JC, Monos D. Loss of heterozygosity in the HLA region and sensitivity of HLA typing methods for detecting under-represented alleles.
Curating the Clinical Genome
Hinxton, UK, May 23–25, 2018
Pont-Kingdon G, Mao R, Anderson E, Lyon E—Poster
Tidwell T, Brown S, Lewis Z, Pont-Kingdon G, Mao R, Anderson E, Lyon E. Leveraging existing clinical information systems for semi-automated preparation of ClinVar submissions.
Congress of the International Society for the Study of Fatty Acids and Lipids (ISSFAL)
Las Vegas, NV, May 27–30, 2018
De Biase I, Lozier B, Schwarz E, Rindler M, Yuzyuk T—Poster
De Biase I, Lozier B, Schwarz E, Rindler M, Yuzyuk T. Intra-individual variability of 22 long-chain fatty acids (C12-C24) in plasma and red blood cells.
International Society for the Study of Vascular Anomalies (ISSVA)
Amsterdam, Netherlands, May 29–June 1, 2018
Wooderchak-Donahue W, Bayrak-Toydemir P—Poster
Wooderchak-Donahue W, Akay Tayfun G, Johnson P, McDonald J, Grimmer JF, Richter GT, Steeves MA, Lin AE, Stevenson DA, Bayrak-Toydemir P. Clinical utility of a NGS panel in the diagnosis of vascular malformations syndromes.
Wooderchak-Donahue W, Bayrak-Toydemir P—Poster
Wooderchak-Donahue W, Akay Tayfun G, McDonald J, Whitehead K, Grimmer JF, Stevenson DA, Bayrak-Toydemir P. Expanding the phenotypic spectrum of cases with an EPHB4 mutation.
Wooderchak-Donahue W, Bayrak-Toydemir P—Poster
Wooderchak-Donahue W, Farrell A, Akay Tayfun G, Velinder M, McDonald J, Whitehead K, Johnson P, Marth G, Bayrak-Toydemir P. Mutations in non-coding regions cause hereditary hemorrhagic telangiectasia.
American Association for Cancer Research (AACR)
Chicago, IL, April 14–18, 2018
Hellwig S, Bronner MP—Poster
Hellwig S, Bronner MP. Larger family sizes improve stochastic error correction during untargeted searches of very low frequency variant alleles in circulating cell-free DNA (ccfDNA).
American College of Medical Genetics and Genomics (ACMG)
Charlotte, NC, April 10–14, 2018
Toydemir R—Poster
Paulraj P, Tvrdik T, Serrano M, Toydemir R. Copy number variations involving RAF1 gene at 3p25.2: Is there a specific phenotype?
Toydemir RM—Poster
Hilton BA, Palumbos JC, Viskochil DH, Toydemir RM. Interstitial 7q duplication of 15.5 Mb associated with mild dysmorphic features, speech delay and developmental delay.
Andersen E, Lamb A—Presentation
Riggs ER, Nelson T, Ackley T, Andersen E, Bunke B, Collins C, Collinson M, Fan Y, Glassford M, Haglund-Hazy L, Lamb A, Li G, Liu Y, Meck J, Neufeld-Kaiser W, Su M, Tayeh M, Martin CL. Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.
The Endocrine Society (ENDO)
Chicago, IL, March 17–20, 2018
Kushnir MM, Straseski JA—Poster
Kushnir MM, Straseski JA. Free 25 hydroxy vitamin D (25OHD) measured by LC-MS/MS: Better association with PTH and calcium than with total 25OHD.
Thrombosis and Hemostasis Summit of North America (THSNA)
San Diego, CA, March 8–10, 2018
Smock KJ—Presentation
Smock KJ. Evaluation of complex coagulation cases: case-based illustrations of important issues.
Smock KJ—Presentation
Smock KJ. Laboratory evaluation and interpretation of heparin-induced thrombocytopenia (HIT) assays.
Crist RA, Smock KJ, Rodgers GM, Heikal NM—Poster
Crist RA, Smock KJ, Rodgers GM, Heikal NM. A correlation study of ADAMTS13 neutralizing and non-neutralizing antibodies.
United States and Canadian Academy of Pathology (USCAP)
Vancouver, Canada, March 17–23, 2018
Deftereos G, Zhou W, Rowe L, Tripp S, Salama M, Matynia A, Witt B—Poster
Deftereos G, Zhou W, Rowe L, Tripp S, Salama M, Matynia A, Witt B. Expression of PD-L1 22C3 in head and neck squamous cell carcinomas, in relation to p16 and HR-HPV DNA status.
Zhou W, Rowe L, Deftereos G—Poster
Zhou W, Rowe L, Deftereos G. Validation of Cobas® HR-HPV genotyping assay head and neck squamous cell carcinoma FFPE specimens.
Luem N, Szankasi P, Kelley TW, Patel JL—Presentation
Szankasi P, Kelley TW, Patel JL . IDH2 R172 mutated myeloid malignancies show distinct mutational profiles compared to cases with IDH1 and IDH2 R140 mutations.
Society for Maternal-Fetal Medicine (SMFM)
Dallas, TX, January 29–February 3, 2018
McMillin GA—Poster
Metz TD, Sliver RM, McMillin GA, Allshouse AA, Mansfield C, Heard K, Kinney GL, Wymore E, Binswanger IA. Maternal marijuana exposure by self-report and umbilical cord sampling in a state with legalization.
American Federation for Medical Research, Western Regional Meeting (AFMR)
Carmel, CA, January 25–27, 2018
Martins TB, Peterson LK, Hill HR—Poster
Martins TB, Pasi BM, Peterson LK, Hill HR. Establishment of normal cytokine reference intervals in cerebral spinal fluid for potential biomarker discovery in neuroinflammatory disorders.
Mass Spectrometry: Applications to the Clinical Laboratory (MSACL)
Palm Springs, CA, January 21–25, 2018
Wabuyele SL, McMillin GA—Presentation
Marin SJ, Wabuyele SL, McMillin GA. Method development case history: the continuous need for improvements in laboratory developed tests (LDTs) with a broad drug panel for neonatal drug testing as a case example.
Scroggin T, McMillin GA—Presentation
Scroggin T, Wu F, Metz TD, Allshouse AA, Binswanger I, McMillin GA. Detection of in utero exposure to cannabis, what are we missing?
Hughs M, Frank EL—Poster
Hughs M, Thaitumu M, Frank EL. Enhancing LC-MS/MS sensitivity for catecholamines via a reductive alkylation derivatization strategy.
Kushnir MM—Poster
Bankhead C, Kushnir MM. High throughput method for measurement of 25-hydroxy vitamin D by LC‐MS/MS.
Ray JA, Straseski JA—Poster
Ray JA, Gherasim C, Straseski JA. Measurement of serum free cortisol using equilibrium dialysis-liquid chromatography-tandem mass spectrometry; revisiting the use of free cortisol measurement for adrenal insufficiency in critically ill patients.
Clark ZD—Presentation
Clark ZD. Taking aim at interference (without shooting yourself in the foot).
Rule G, Straseski J—Presentation
Rule G, Gherasim C, Straseski J. Matrix and instrument effects on analyte fragmentation and ion ratios.
Rule G, Straseski J—Poster
Gherasim C, Rule G, Straseski J. Effect of blood collection tubes on serum/plasma estrogen quantitation by liquid chromatography- tandem mass spectrometry.
Society of Forensic Toxicologists (SOFT)/The International Association of Forensic Toxicologists (TIAFT)
Boca Raton, FL, January 7–11, 2018
Scroggin T, McMillin GA—Poster
Scroggin T, Wu F, McMillin GA. Extraction optimization for LC-MS/MS quantitation of cannabinoids and metabolites in umbilical cord tissue and meconium.
Wabuyele SL, McMillin GA—Poster
Wabuyele SL, Marin SJ, McMillin GA. Evaluation of solid phase extraction (SPE) compared to supported liquid extraction (SLE+) as sample preparation techniques for LC-MS/MS detection of 49 drugs and metabolites in umbilical cord tissue.
Taylor LL, Johnson-Davis KL—Poster
Taylor LL, Johnson-Davis KL. Qualitative analysis for multiple drug classes and metabolites in serum/plasma by LC-MS/MS.
