Document Actions
Pinar Bayrak-Toydemir, M.D., Ph.D.
Assistant Professor of Pathology, University of Utah School of Medicine
Scholarly Emphasis:
Understanding the molecular genetic characteristics of inherited vascular diseases and applications of new technologies to clinical molecular genetics testing.
Pinar Bayrak-Toydemir, M.D., Ph.D.
Titles:
- Medical Director, Molecular Genetics, ARUP Laboratories
- Assistant Professor of Pathology, University of Utah School of Medicine
About Pinar Bayrak-Toydemir, M.D., Ph.D.
She 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.
She 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.
Selected Publications
- Peer Reviewed Publications
- Best DH, Vaughn C, McDonald J, Damjanovich K, Runo JR, Chibuk JM, Bayrak-Toydemir P. (2011). Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients. J Med Genet. 2011 May;48(5):358-60. Epub 2011 Mar 4.
- Wooderchak-Donahue W, Vaughn C, Chou LS, Lewis T, Sumner K, Procter M, Gedge F, Bayrak-Toydemir P, Lyon E, Pont-Kingdon G. (2011). Verification of multiplex ligation-dependent probe amplification probes in the absence of positive samples. Genet Test Mol Biomarkers. 2011 Nov;15(11):793-9. Epub 2011 Jun 20.
- Furtado LV, Wooderchak-Donahue W, Rope AF, Yetman AT, Lewis T, Plant P, Bayrak-Toydemir P. (2011). Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification. BMC Med Genet. 2011 Sep 21;12:119.
- Wooderchak-Donahue W, Stevenson DA, McDonald J, Grimmer JF, Gedge F, Bayrak-Toydemir P. (2011). RASA1 analysis: Clinical and molecular findings in a series of consecutive cases. Eur J Med Genet. 2011 Dec 8. [Epub ahead of print]
- Damjanovich K, Langa C, Blanco FJ, McDonald J, Botella LM, Bernabeu C, Wooderchak-Donahue W, Stevenson DA, Bayrak-Toydemir P. (2011). 5'UTR mutations of ENG cause Hereditary Hemorrhagic Telangiectasia. Orphanet J Rare Dis, 6(1), 85.
- Bharatha A, Faughnan ME, Kim H, Pourmohamad T, Krings T, Bayrak-Toydemir P, Pawlikowska L, McCulloch CE, Lawton MT, Dowd CF, Young WL, Terbrugge KG. (2011 Oct 27). Brain arteriovenous malformation multiplicity predicts the diagnosis of hereditary hemorrhagic telangiectasia: Quantitative assessment. Stroke.
- All Publications: Click Here
Honors and Awards
- 2006 Dr. Robert I. White Jr. Young Clinician's Award - International HHT Foundation.
Professional Education
- 2005 Clinical Molecular Genetics Fellowship, University of Utah, Salt Lake City, Utah.
- 1999 Ph.D. University of Ankara (Human Genetics) Ankara, Turkey
- 1991 M.D. University of Ankara, Ankara, Turkey