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
Board Certification and Academic Information
| Academic Departments | Pathology
-
Professor Pediatrics - Adjunct Professor |
| Academic Divisions | Clinical Pathology Pediatric Genetics |
| Board Certification | American Board of Medical Genetics (Clinical Molecular Genetics) |
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.
Academic Locations
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.
Board Certification and Academic Information
| Academic Departments | Pathology
-
Professor Pediatrics - Adjunct Professor |
| Academic Divisions | Clinical Pathology Pediatric Genetics |
| Board Certification | American Board of Medical Genetics (Clinical Molecular Genetics) |
Research Interests
- Molecular Genetics
- Telangiectasia, Hereditary Hemorrhagic
Education History
| Fellowship | University of Utah School of Medicine Clinical Molecular Genetics Fellow, 2005 |
| Doctoral Training | Ankara University School of Medicine, Medical Biology Department Human Genetics Division Ph.D., 1999 |
| Professional Medical | Ankara University School of Medicine Medicine M.D., 1991 |
Selected Publications - Journal Articles
Journal Article
- 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.
- Bernabeu C, Bayrak-Toydemir P, McDonald J, Letarte M (2020). Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia. J Clin Med, 9(11).
- 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.
- 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.
- 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.
Global Impact
Education History
| Doctoral Training | Ankara University School of Medicine, Medical Biology Department Human Genetics Division Ph.D. |
| Professional Medical | Ankara University School of Medicine Medicine M.D. |