Jirair Krikor Bedoyan MD PhD (He/Him)

PubMed

• Is an emerging pharmacotherapeutic era for rare mitochondrial diseases here?
  Jirair K Bedoyan, Jerry Vockley
  Cell Metabolism. 2026-06-02
• 2 citations
  First-in-human nuclease-free homologous recombination-dependent gene editing in pediatric patients with methylmalonic acidemia: results of a phase 1/2 study.
  Jirair K Bedoyan, Thomas Morgan, Angela Sun, Hong Li, Daniel Gruskin
  Gene Therapy. 2026-05-01
• 8 citations
  Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database.
  Kuntal Sen, Rima Izem, Yuelin Long, Jiji Jiang, Laura L Konczal
  Molecular Genetics & Genomic Medicine. 2024-04-01

Journal Articles

• Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genom...  
  Falk, M. J., et al., Bedoyan, J. K. included as MSeqDR Consortium participant, Mol. Genet. Metab., 1/1/2015
• Novel SMC1A frameshift mutations in children with developmental delay and epilepsy  
  Goldstein, J. H. R., Tim-Aroon, T., Shieh, J., Merrill, M., Deeb, K. K., Zhang, S., Bass, N. E., and Bedoyan, J. K., Eur. J. Med. Genetics, 1/1/2015
• Clinical and biochemical characterization of four patients with mutations in ECHS1  
  Ferdinandusse, S., Friederich, M. W., Burlina, A., Ruiter, J., Coughlin, C. R., Dishop, M. K., Gallagher, R. C., Bedoyan, J. K., Vaz, F. M., Waterham, H. R., Gowan, K...., Orphanet J. Rare Dis., 1/1/2015

Books/Book Chapters

• Pediatric Endocrinology and Inborn Errors of Metabolism 
  Chapter: Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle 
  Kerr, D. S. and Bedoyan, J. K.Editors: K. Sarafoglou.McGraw HillEdition 2nd,2017

Abstracts/Posters

• Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex deficiency
  Shin H., Grahame, G., McCandless, S. E., Kerr, D. S., and Bedoyan, J. K., Lepow Research Day/Society for Inherited Metabolic Disorders (SIMD) Annual Meeting, CWRU School of Medicine, Cleveland, OH, 2017; San Diego, CA, 2018, 1/1/2018
• Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) ...
  Bedoyan, J. K., Yang, S. P., Ferdinandusse, S., Jack, R. M., Miron, A., Grahame, G., DeBrosse, S. D., Hoppel, C., Kerr, D. S., and Wanders, R. J. A., UMDF Symposium: Mitochondrial Medicine/Society for Inherited Metabolic Disorders (SIMD) Annual Meeting, Alexandria, VA, 2017; San Diego, CA, 2018, 1/1/2018
• Succinyl-CoA synthetase deficiency in siblings with impaired pyruvate dehydrogenase complex and other mitochondrial oxidative enzymes in skeletal muscle without mtDNA ...
  Huang, X., Bedoyan, J. K., Demirbas Cakici, D., Harris, D., Miron, A., Edelheit, S., Grahame, G., Wong, L., DeBrosse, S. D., Hoppel, C., Kerr, D. S., Anselm, I., and B..., American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting, Phoenix, AZ, 1/1/2017

Lectures

• Lethal neonatal case resolved by whole exome sequencing (WES) with implications for the diagnosis and treatment of secondary pyruvate dehydrogenase complex (PDC) defic... 
  CWRU - 1/1/2017
• Advanced genetic study of pyruvate dehydrogenase complex (PDC) deficiencies: CIDEM Laboratory perspectives 
  CWRU - 1/1/2016
• Pyruvate Dehydrogenase Complex Deficiency: CIDEM Laboratory Perspectives 
  Case Western Reserve University, Cleveland, OH - 1/1/2015

Other

• Structural features of rat liver telomere oligonucleosomes 
  Bedoyan, J. K., Doctor of Philosophy Dissertation
  University of Michigan, Ann Arbor, MI - 1/1/1996
• Function, characteristics, tissue-site and synthesis of the non-bactericidal inducible glycoprotein M13 from Manduca sexta 
  Bedoyan, J. K., Master of Science Thesis
  Washington State University, Pullman, WA - 1/1/1989