Pinar Bayrak-Toydemir
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Pinar Bayrak-Toydemir, MD, PhD

Languages spoken: English, Turkish

  • Dr. Bayrak-Toydemir has focused her research efforts on understanding the molecular genetic characteristics of inherited vascular diseases. She primarily studies Hereditary Hemorrhagic Telangiectasia (HHT) disease. In addition to HHT, her research aims to identify genes that cause various inherited vascular malformations.

    Dr. Bayrak-Toydemir is also interested in application of array technology and next generation sequencing to molecular diagnostics. Specifically, she has focused on detecting molecular genetic causes of mental retardation syndromes.

    Specialties

    • Clinical Scientist

    Board Certification

    American Board of Medical Genetics (Clinical Molecular Genetics)
    American Board of Medical Genetics and Genomics (Laboratory Genetics and Genomics)

  • Dr. Bayrak-Toydemir has focused her research efforts on understanding the molecular genetic characteristics of inherited vascular diseases. She primarily studies Hereditary Hemorrhagic Telangiectasia (HHT) disease. In addition to HHT, her research aims to identify genes that cause various inherited vascular malformations.

    Dr. Bayrak-Toydemir is also interested in application of array technology and next generation sequencing to molecular diagnostics. Specifically, she has focused on detecting molecular genetic causes of mental retardation syndromes.

    Board Certification and Academic Information

    Academic Departments Pathology -Primary
    Pediatrics -Adjunct
    Academic Divisions Medical Genetics
    Board Certification
    American Board of Medical Genetics (Clinical Molecular Genetics)
    American Board of Medical Genetics and Genomics (Laboratory Genetics and Genomics)

    Education history

    Fellowship Clinical Molecular Genetics - University of Utah School of Medicine Fellow
    Human Genetics Division - Ankara University School of Medicine, Medical Biology Department Ph.D.
    Professional Medical Medicine - Ankara University School of Medicine M.D.

    Selected Publications

    Journal Article

    1. Whitehead KJ, Toydemir D, Wooderchak-Donahue W, Oakley GM, McRae B, Putnam A, McDonald J, Bayrak-Toydemir P (2024). Investigation of the Genetic Determinants of Telangiectasia and Solid Organ Arteriovenous Malformation Formation in Hereditary Hemorrhagic Telangiectasia (HHT). Int J Mol Sci, 25(14). (Read full article)
    2. Schmidt RJ, Steeves M, Bayrak-Toydemir P, Benson KA, Coe BP, Conlin LK, Ganapathi M, Garcia J, Gollob MH, Jobanputra V, Luo M, Ma D, Maston G, McGoldrick K, Palculict TB, Pesaran T, Pollin TI, Qian E, Rehm HL, Riggs ER, Schilit SLP, Sergouniotis PI, Tvrdik T, Watkins N, Zec L, Zhang W, Lebo MS, ClinGen Low PenetranceRisk Allele Working Group (2023). Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group. Genet Med, 26(3), 101036. (Read full article)
    3. Bassani S, Chrast J, Ambrosini G, Voisin N, Schtz F, Brusco A, Sirchia F, Turban L, Schubert S, Jamra RA, Schlump JU, DeMille D, Bayrak-Toydemir P, Nelson GR, Wong KN, Duncan L, Mosera M, Gilissen C, Vissers LELM, Pfundt R, Kersseboom R, Yttervik H, Hansen GM, Falkenberg Smeland M, Butler KM, Lyons MJ, Carvalho CMB, Zhang C, Lupski JR, Potocki L, Flores-Gallegos L, Morales-Toquero R, Petit F, Yalcin B, Tuttle A, Elloumi HZ, Mccormick L, Kukolich M, Klaas O, Horvath J, Scala M, Iacomino M, Operto F, Zara F, Writzl K, Maver A, Haanp MK, Pohjola P, Arikka H, Iseli C, Guex N, Reymond A (2024). Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. (Read full article)
    4. Tidwell T, Deshotel M, Palumbos J, Miller C, Bayrak-Toydemir P, Carey JC (2020). Novel de novo ARCN1 intronic variant causes rhizomelic short stature with microretrognathia and developmental delay. Cold Spring Harb Mol Case Stud. (Read full article)
    5. Bernabeu C, Bayrak-Toydemir P, McDonald J, Letarte M (2020). Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia. J Clin Med, 9(11). (Read full article)
    6. Bean L, Bayrak-Toydemir P, ACMG Laboratory Quality Assurance Committee (2020). Addendum: American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease. Genet Med. (Read full article)
    7. 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 (2018). De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures. Brain, 142(11), 3351-3359. (Read full article)
    8. 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 (2019). Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants. Mol Genet Genomic Med, 7(7), e00796. (Read full article)

    Review

    1. SoRelle JA, Funke BH, Eno CC, Ji J, Santani A, Bayrak-Toydemir P, Wachsmann M, Wain KE, Mao R (2023). Slice Testing-Considerations from Ordering to Reporting: A Joint Report of the Association for Molecular Pathology, College of American Pathologists, and National Society of Genetic Counselors. [Review]. J Mol Diagn, 26(3), 159-167. (Read full article)