PINAR BAYRAK-TOYDEMIR portrait
  • Adjunct Professor, Pediatrics
  • Professor, Pathology
801-419-4293

Research Statement

The effect of factor V gene G1691A, methylenetetrahydrofolate reductase gene C677T, and prothrombin gene G20210A mutations in the genesis of deep vein thrombosis in Behcet's disease patients.

Research Keywords

  • Molecular Genetics
  • Telangiectasia, Hereditary Hemorrhagic

Presentations

  • Exploring Next-Generation Sequencing Data: Targeted vs. Genomic Approaches. Cambridge Healthtech Institute/Next Generation Dx Summit. Washington, D.C. , , 2015.
  • Clinical and Molecular findings of RASA1-Related Disorders. 4th International RASopathies Symposium/Seattle, WA. , , 2015.
  • Next Generation Sequencing in Genetics, Exome and Gene Panels. Pinar Bayrak-Toydemir, University of Utah and ARUP Laboratories, Salt Lake City, UT. , , 2015.
  • Bayrak-Toydemir P. NGS in genetics, exome, and gene panels. Assocation of Clinical Scientists 2015 Annual Meeting, Salt Lake City, UT. , , 2015.
  • Bayrak-Toydemir P, Marchuk D. With the identification of numerous germ line and somatic mutations in vascular anomalies, should we be screening all or most patients, should we expect the relevant health system to bear the cost and who is the most appropriate person to discuss the findings with the families? If a mutation is found what is its implication? New York Academy of Sciences/Controversies in Vascular Anomalies, New York, NY. , , 2015.
  • Bayrak-Toydemir P. Genomic Testing in Clinical Setting. LabX Media Group/Scientific Research and Leadership Summit. , , 2014.
  • 1st Association for Utah Genetic Counselors Education Conference, Salt Lake City. Clinical Utility of an Aortopathy Gene Panel Using Next Generation Sequencing and Array CGH. , , 2014.
  • Kaiser Genetics, Clinical Utility of an Aortopathy Gene Panel Using Next Generation Sequencing and Array CGH. , , 2014.
  • American Society of Human Genetics (ASHG) Annual Meeting, San Diego, CA. Molecular Diagnostics & the Focused Exome, a Strategic NGS Panel for the Future. , , 2014.
  • Bayrak-Toydemir P, Exome Sequencing as a Diagnostic Tool. BioConference Live/LabRoots. , , 2013.
  • Bayrak-Toydemir P. Summaries of Clinical, Basic Science and Genetics areas. 10th Annual Hereditary Hemorrhagic Telangiectasia Scientific Conference, Cork, Ireland. , , 2013.
  • Bayrak-Toydemir P. Mutations on a new gene cause a new vascular malformation disorder similar to Hereditary Hemorrhagic Telangiectasia. 10th Annual Hereditary Hemorrhagic Telangiectasia Scientific Conference, Cork, Ireland. , , 2013.
  • Bayrak-Toydemir P. Epistaxis severity score in pediatric patients with Hereditary Hemorrhagic Telangiectasia. 10th Annual Hereditary Hemorrhagic Telangiectasia Scientific Conference, Cork, Ireland. , , 2013.
  • Bayrak-Toydemir P. Multiple deleterious mutations in angiogenesis-related genes generate symptoms indistinguishable from Hereditary Hemorrhagic Telangiectasia (HHT). 10th Annual Hereditary Hemorrhagic Telangiectasia Scientific Conference, Cork, Ireland. , , 2013.
  • Bayrak-Toydemir P. Clinical utility of a next generation sequencing panel in the diagnosis of Hereditary Hemorrhagic Telangiectasia (HHT) and other syndromes featuring vascular malformations. 10th Annual Hereditary Hemorrhagic Telangiectasia Scientific Conference, Cork, Ireland. , , 2013.
  • Lyon E, Bayrak-Toydemir P. Exploring Next Generation Sequencing Data: Targeted vs. Genomic Approaches, Bioconference live webinar. , , 2012.
  • Bayrak-Toydemir P. Challenges in Interpretation of Sequence Variants Identified by Next Generation Sequencing: Algorithms and Bioinformatic Resources. American College of Medical Genetics (ACMG) Annual Meeting. Charlotte, NC. , , 2012.
  • Next Generation Sequencing (NGS) Technologies in Genetic Diagnosis. Acibadem University, Istanbul, Turkey. , , 2015.
  • McDonald J, Wooderchak-Donahue W, O'Fallon B, Upton P, Li W, Roman B, Young S, Plant P, Fülöp G, Langa C, Morrell N, Botella L, Bernabeu C, Stevenson D, Runo J, Bayrak-Toydemir P. BMP9 mutations cause a vascular anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia. American Society of Human Genetics (ASHG) 63rd Annual Meeting. Boston, MA. , , 2013.
  • Clinical Exome Sequencing. BioConference Live. , , 2013.
  • O'Fallon B, Wooderchak-Donahue W, Bayrak-Toydemir P. A general integrated variant prioritization method for rapid determination of disease causing mutations from next generation sequencing data. American Society of Human Genetics (ASHG) Annual Meeting. San Francisco, CA. , , 2012.
  • Bayrak-Toydemir P. Challenges in Interpretation of Sequence Variants Identified by Next Generation Sequencing: Algorithms and Bioinformatic Resources. Annual Meeting of the American College of Medical Genetics (ACMG), Charlotte, NC. , , 2012.
  • Bayrak-Toydemir P. Diagnostic Application of Next Generation Sequencing Using Aortopathies Panel as an Example Med-Tro Conference Series, San Francisco, CA. , , 2012.
  • Bayrak-Toydemir P. New home for Hereditary Hemorrhagic Telangiectasia (including SMAD4) Mutation Database. 9th Annual Hereditary Hemorrhagic Telangiectasia Meeting, Antalya, Turkey. , , 2011.
  • Bayrak-Toydemir P. Searching for new hereditary hemorrhagic telangiectasia genes by exome sequencing. Platform presentation. Annual Meeting of the American College of Medical Genetics, Vancouver, BC,CN. , , 2011.
  • Lyon E, Lewis T, Ridge P, Stevenson D, Robles R, Graham V, Bettinson M, Openshaw A, Mao R, Bayrak-Toydemir P, Krautscheid P, Miller C. Collecting and combining family history, clinical phenotype and analytical results to contribute evidence for variant classification in mutation databases: A systemic laboratory approach. UNESCO, Paris, France. , , 2010.
  • Bayrak-Toydemir P. X-Linked Mental Retardation. Third Annual Winter Update in Clinical and Laboratory Medicine: Clinical Chemistry, Immunology Microbiology and Molecular Medicine. University of Utah School of Medicine, Park City, Utah. , , 2010.
  • Bayrak-Toydemir P, Lewis T. X-Chromosome microarray. University of Utah, Department of Pediatrics, Salt Lake City, UT. , , 2010.
  • Bayrak-Toydemir P. Analyzing Full Genes for Genetic Diseases. First Annual Winter Update in Clinical and Laboratory Medicine: Clinical Chemistry, Immunology Microbiology and Molecular Medicine. University of Utah School of Medicine, Park City, Utah. , , 2008.
  • Bayrak-Toydemir P, Rope A. Rett Syndrome. University of Utah, Department of Pediatrics, Salt Lake City, Utah. , , 2008.
  • Miller C, Bayrak-Toydemir P. Molecular Genetics. McKay-Dee Hospital, Ogden, Utah. , , 2007.
  • Toydemir R, Krakowiak P, Bean A, Bayrak-Toydemir P, Brassington A, Whitby F, Jorde L, Longo N, Bamshad M. Camptodactyly and Hearing Loss Caused by a Loss-of-Function Mutation in FGFR3. Annual Bioscience Symposium, Salt Lake City, UT. , , 2003.
  • Bayrak-Toydemir P. Using CVS Washings as a Test System for the Immunohistochemical Identification of Fetal Cells. 13th Fetal Cell Workshop. , , 2002.
  • Wooderchak-Donahue WL, McDonald J, VanSant-Webb C, Lewis T, Stevenson DA, Bayrak-Toydemir P. Molecular diagnostics in the new era: clinical utility of a next generation sequencing panel in the diagnosis of HHT. Poster session presented at Hereditary Hemorrhagic Telangiectasia (HHT), Captiva, FL. Poster, Presented, 2015.
  • Sumner K, Damjanovich K, Smith B, Nakayama I, Ha Y, Paul E, Morris A, Brown L, Bayrak-Toydemir P, Elliott CG, Best DH. EIF2AK4 gene mutations in patients with a clinical diagnosis of pulmonary arterial hypertension. Poster session presented at American College of Medical Genetics (ACMG), Salt Lake City, UT. Poster, Presented, 2015.
  • Wooderchak-Donahue W, Stevenson DA, McDonald J, Blei F, Berenstein A, Sorscher M, Tvrdik T, LaGrave D, Grimmer JF, Bayrak-Toydemir P. Expanding the Clinical and Molecular Findings in Cases with a RASA1 Mutation. Poster session presented at American College of Medical Genetics (ACMG), Salt Lake City, UT. Poster, Presented, 2015.
  • Sumner K, Damjanovich K, Smith B, Nakayama I, Ha Y, Paul E, Morris A, Brown LM, Bayrak-Toydemir P, Elliott CG, Best DH. Prevalence of EIF2AK4 gene mutations in patients with a clinical diagnosis of pulmonary arterial hypertension. Poster session presented at American Society of Human Genetics (ASHG) 2014 Annual Meeting, San Diego, CA. Poster, Presented, 2014.
  • Wooderchak-Donahue W, Durtschi J, Singleton M, Bayrak-Toydemir P. A direct comparison of next generation sequencing enrichment methods using an Aortapathies gene panel - clinical diagnostics perspective. Poster session presented at Next-Gen Sequencing Europe, Hamburg, Germany. Poster, Presented, 2011.
  • Wooderchak-Donahue W, Crockett D, Spencer Z, McDonald J, Bayrak-Toydemir P. New home for Hereditary Hemorrhagic Telangiectasia (including SMAD4) Database. Poster session presented at The International Hereditary Hemorrhagic Telangiectasia Meeting, Kemer, Turkey. Poster, Presented, 2011.
  • Damjanovich K, Best H, Vaughn C, McDonald J, Runo J, Chibuk M, Bayrak-Toydemir P. ACVRL1 and ENG mosaicism in hereditary hemorrhagic telangiectasia. Poster session presented at The International Hereditary Hemorrhagic Telangiectasia Meeting, Kemer, Turkey. Poster, Presented, 2011.
  • Stevenson DA, Langa C, Damjanovich K, Bernabeu C, Blanco FJ, McDonald J, Bayrak-Toydemir P. Mutations in the 5'UTR of ENG gene cause hereditary hemorrhagic telangiectasia (HHT). Poster session presented at The International Hereditary Hemorrhagic Telangiectasia Meeting, Kemer, Turkey. Poster, Presented, 2011.
  • Wooderchak-Donahue W, Lewis T, Gedge F, McDonald J, Grimmer J, Stevenson D, Bayrak-Toydemir P. Clinical assessment of individuals evaluated for RASA1 mutations. Poster session presented at Annual Meeting of the American College of Medical Genetics, Vancouver, BC, CN. Poster, Presented, 2011.
  • Kalman L, Swaroop A, Bale S, Bayrak-Toydemir P, Buller-Burckle A, Das S, Friedman K, Iyer R, Vo T, Zvereff V, Percy A, Toji L. Quality assurance for Rett syndrome genetic testing: Development of a genomic DNA reference material panel. Poster session presented at Annual Meeting of the American College of Medical Genetics, Vancouver, BC, CN. Poster, Presented, 2011.
  • Best DH, Vaughn C, McDonald J, Damjanovich K, Runo JR, Bayrak-Toydemir P. Pulmonary arterial hypertension and hereditary hemorrhagic telangiectasia in a patient with mosaicism for an ACVRL1 mutation. Poster session presented at Annual Meeting of the American College of Medical Genetics, Vancouver, BC, CN. Poster, Presented, 2011.
  • Furtado L, Donahue W, Lewis T, Rope A, Yetman A, Bayrak-Toydemir P. Characterization of large genomic deletions in connective tissue diseases featuring aortopathies using multiplex ligation-dependent probe amplification. Poster session presented at Annual Meeting of the Association for Molecular Pathology, San Jose, CA. Poster, Presented, 2010.
  • McDonald J, Mao R, Bayrak-Toydemir P.. Potential effects of silent variants in hereditary hemorrhagic telangiectasia. Poster session presented at Hereditary Hemorrhagic Telangiectasia International Scientific Conference. Poster, Presented, 2007.
  • Chou L-S, Bayrak-Toydemir P, Mao R, Lyon E.. Detection of genomic rearrangement using multiplex ligation-dependent probe amplication (MLPA). Poster session presented at Abstract Book of Association of Molecular Pathology Meeting. Poster, Presented, 2005.
  • Cowley BC, Stevenson Da, Carey JC, Bayrak-Toydemir P, Mao R, Brothman AR.. Genomic microarray facilitated identification of a der(4)t(4;11)(pl16.3;p15.5)in a patient with a modified Wolf-Hirschhorn syndrome phenotype. Poster session presented at Abstract Book of the 54th Annual Meeting of the American Society of Human Genetics. Poster, Presented, 2004.
  • Tukun A, Bayrak P, Beker T, Aydemir F, Bokesoy I.. Cell kinetics in down syndrome. Proceedings of the international symposium on recent advances in molecular genetics of the maghreb & middle east populations. Poster session presented at International Symposium on Recent Advances in Molecular Genetics of the Maghreb & Middle East Populations. Poster, Presented, 1997.
  • Toydemir R, Bayrak P, Tukun A, Ilgin H, Karabulut H, Sayar C, Tuncali T, Tuncman G, Bokesoy I.. Karyotypic spectrum of patients with suspected sex chromosomal abnormalities. Poster session presented at 9th International Congress of Human Genetics. Poster, Presented, 1996.
  • Bayrak P, Tukun A, Ilgin H, Elhan A, Coskun V Bokesoy I.. Spontaneous and induced frequencies of micronuclei and chromosomal aberrations in Down's syndrome in relation to aging. Poster session presented at 9th International Congress of Human Genetics. Poster, Presented, 1996.
  • Toydemir R, Bayrak P, Bokesoy I.. Down's Syndrome; Spontaneous abortion and maternal age. A retrospective study. Poster session presented at International Down's Syndrome Meeting. Poster, Presented, 1995.
  • Turkun A, Coskun V, Bayrak P, Sayar C, Elhan A, Bokesoy I.. Age related difference of spontaneous and induced micronucleus formation with/without centrometers. Poster session presented at International Down's Syndrome Meeting. Poster, Presented, 1995.

Languages

  • English, Fluent.
  • Turkish, Fluent.

Publications

  • Bernabeu C, Bayrak-Toydemir P, McDonald J, Letarte M (date unknown). Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia. Vol. 9. Accepted, .
  • Tidwell T, Deshotel M, Palumbos J, Miller C, Bayrak-Toydemir P, Carey JC (date unknown). Novel de novo ARCN1 intronic variant causes rhizomelic short stature with microretrognathia and developmental delay. Accepted, .
  • 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 (date unknown). De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures. Vol. 142, 3351-3359. Accepted, .
  • Bean L, Bayrak-Toydemir P, ACMG Laboratory Quality Assurance Committee. (date unknown). Addendum: American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease. Accepted, .
  • 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 (date unknown). Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants. Vol. 7, e00796. Accepted, .