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Specialties
- Clinical Scientist
Board Certification
American Board of Medical Genetics (Clinical Molecular Genetics)American Board of Medical Genetics and Genomics (Laboratory Genetics and Genomics) -
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
- 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)
- 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)
- 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)
- 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)
- 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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