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Pinar Bayrak-Toydemir

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 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. 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)
    2. 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)
    3. 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)
    4. 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)
    5. 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)
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