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

Languages spoken: Turkish, English

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 -Professor
Pediatrics -Adjunct Professor
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

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

Selected Publications

Journal Article

  1. 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 (2019). De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures. Brain, 142(11), 3351-3359.
  2. 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. Genetics in medicine,
  3. 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 (2019). Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants. Molecular genetics & genomic medicine, 7(7), e00796.
  4. Bernabeu C, Bayrak-Toydemir P, McDonald J, Letarte (2020). Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia. Journal of clinical medicine, 9(11),
  5. Tidwell T, Deshotel M, Palumbos J, Miller C, Bayrak-Toydemir P, Carey J (2020). Novel de novo ARCN1 intronic variant causes rhizomelic short stature with microretrognathia and developmental delay. Cold Spring Harbor molecular case studies,
  6. Whitehead KJ, Toydemir D, Wooderchak-Donahue W, Oakley GM, McRae B, Putnam A, McDonald J, Bayrak-Toydemir (2024). Investigation of the Genetic Determinants of Telangiectasia and Solid Organ Arteriovenous Malformation Formation in Hereditary Hemorrhagic Telangiectasia (HHT). International journal of molecular sciences, 25(14),
  7. Bassani S, Chrast J, Ambrosini G, Voisin N, Schütz 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 GÅM, 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, Haanpää MK, Pohjola P, Arikka H, Iseli C, Guex N, Reymond (2024). Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
  8. 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 Penetrance/Risk Allele Working Grou (2024). Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group. Genetics in medicine, 26(3), 101036.

Review

  1. SoRelle JA, Funke BH, Eno CC, Ji J, Santani A, Bayrak-Toydemir P, Wachsmann M, Wain KE, Mao (2024). 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. The Journal of molecular diagnostics, 26(3), 159-167.