Reha M. Toydemir, MD, PhD, FACMG

 

Medical Director: Cytogenetics and Genomics

Associate Professor, University of Utah School of Medicine

Specialties

• Hematologic neoplasms
• Constitutional chromosome abnormalities
• Chromosome analysis
• FISH
• Genomic microarray
• NIPT

Education

• Medical Degree—University of Ankara School of Medicine
• Doctorate Degree—Human Genetics, University of Utah
• Fellowship, Clinical Cytogenetics and Genomics—University of Utah School of Medicine

Certification/Affiliations

• American Board of Medical Genetics and Genomics (Clinical Cytogenetics and Genomics)

Research Interests

• Hematologic malignancies
• Congenital malformations

Awards

• James W. Prahl Award (for Outstanding Contributions by a Graduate Student at the University of Utah in Biological or Biomedical Sciences)

Recent Publications

• Cessna MH, et al. Chronic myelomonocytic leukemia with ETV6-ABL1 rearrangement and SMC1A mutation. Cancer Genet. 2019 Oct;238:31–6.
• Paulraj P, et al. Pediatric acute myeloid leukemia with t(7;21)(p22;q22).Genes Chromosomes Cancer. 2019 Aug;58(8):551–7.
• Herriges JC, et al. Delineating the clinical spectrum associated with Xq25q26.2 Duplications: report of 2 families and review of the literature.J Child Neurol. 2019 Feb;34(2):86–93.
• Dugan SL, et al. Delineation of the 9q31 deletion syndrome: genomic microarray characterization of two patients with overlapping deletions.Am J Med Genet A. 2018 Dec;176(12):2901–6.
• Toydemir RM, et al. Immunophenotypic and cytogenetic evolution patterns of the neoplastic plasma cells in multiple myeloma relapsed after stem cell transplant.Journal of Hematopathology. 2018 Sep;11(3):75–80.
• Liew M, Rowe LR, Szankasi P, Paxton CN, Kelley T, Toydemir RM, Salama ME (2018). Characterizing atypical BCL6 signal patterns detected by digital fluorescence in situ hybridization (FISH) analysis. Ann Lab Med. 2018 Nov;38(6):619–22.
• Shen W, et al. Detection of genome-wide copy number variants in myeloid malignancies using next-generation sequencing.J Clin Pathol. 2018 Apr;71(4):372–8.
• Zabriskie MS, et al. A novel AGGF1-PDGFRb fusion in pediatric T-cell acute lymphoblastic leukemia.Haematologica. 2018 Feb;103(2):e87–91.
• Paulraj P, Palumbos JC, Openshaw A, Carey JC,Toydemir RM (2018). Multiple congenital anomalies and global developmental delay in a patient with interstitial 6q25.2q26 deletion: a diagnostic odyssey. Cytogenet Genome Res. 2018;156(4):191–6.
• Samadder NJ, Burt RW,Toydemir RM. Developmental delay and colon polyposis. Gastroenterology. 2017 Oct;153(4):908–9.
• Hong B, Zunich J, Openshaw A,Toydemir RM. Clinical features of trisomy 12mosaicism-Report and review. Am J Med Genet A. 2017 Jun;173(6):1681–6.
• Carroll KL, Schiffern AN, Murray KA, Stevenson DA, Viskochil DH, Toydemir R, MacWilliams BA, Roach JW (2016). The occurrence of occult acetabular dysplasia in relatives of individuals with developmental dysplasia of the hip. J Pediatr Orthop. 2016 Jan;36(1):96–100.
• Salama ME, et al. Neoplastic plasma cell aberrant antigen expression patterns and their association with genetic abnormalities.Leuk Lymphoma. 2015 Feb;56(2):426–33.
• Chidsey BA, et al. L1CAM whole gene deletion in a child with L1 syndrome. Am J Med Genet A. 2014 Jun;164A(6):1555–8.