JirairKrikorBedoyanMD PhD(He/Him)

PubMed

• 7 citations
  A Novel Homozygous Missense Mutation in the YARS Gene: Expanding the Phenotype of YARS Multisystem Disease.
  Rawah K H M Zeiad, Edwin C Ferren, Denise D Young, Shanelle J De Lancy, Demitrios Dedousis
  Journal of the Endocrine Society. 2021-01-02
• 3 citations
  Novel presentations associated with a PDHA1 variant - Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote mother.
  Kuntal Sen, George Grahame, Jirair K. Bedoyan, Andrea L. Gropman
  European Journal of Paediatric Neurology. 2021-01-22
• 4 citations
  Solvent accessibility of E1α and E1β residues with known missense mutations causing pyruvate dehydrogenase complex (PDC) deficiency: Impact on PDC-E1 structure and fun...
  Nicole H Ducich, Jason A Mears, Jirair K Bedoyan
  Journal of Inherited Metabolic Disease. 2022-05-01

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
• Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency  
  Deeb, K. K., Bedoyan, J. K., Wang, R., Sremba, L., Schroeder, M. C., Grahame, G. J., Boyer, M., McCandless, S. E., Kerr, D. S., and Zhang, S., Mol. Genet. Metab. Reports, 1/1/2014
• A novel description of increased urinary orotic acid excretion in pediatric trauma  
  Tim-Aroon, T., Anderson, I. M. Shein, S., and Bedoyan, J. K., J. Endocrinol. Metab., 1/1/2014
• Novel DICER1 mutation as cause of multi-nodular goiter in children  
  Darrat, I., Bedoyan, J. K., Chen, M., Schuette, J. L., and Lesperance, M. M., Head and Neck, 1/1/2013
• The impact of serotonin transporter genotype on default network connectivity in children and adolescents with autism spectrum disorders  
  Wiggins, J. L., Peltier, S. J., Bedoyan, J. K., Carrasco, M., Welsh, R. C., Martin, D. M., Lord, C., and Monk, C. S., Neuroimage: Clinical, 1/1/2013
• Leigh syndrome in a girl with a novel pathogenic DLD mutation causing E3 deficiency  
  Quinonez, S., Leber, S., Martin, D. M., Thoene, J. G., and Bedoyan, J. K., Pediatric Neurology, 1/1/2013
• Disruption of RAB40AL function leads to Martin-Probst syndrome, a rare Xlinked multisystem neurodevelopmental human disorder  
  Bedoyan, J. K., Schaibley, V., Peng, W., Bai, Y., Mondal, K., Shetty, A.C., Durham, M., Micucci, J. A., Dhiraaj, A., Skidmore, J., Kaplan, J. B., Skinner, C., Schwartz..., J. Med. Genetics, 1/1/2012
• The impact of serotonin transporter (5-HTTLPR) genotype on the development of restingstate functional connectivity in children and adolescents: A preliminary report  
  Wiggins, J. L., Bedoyan, J. K., Peltier, S. J., Ashinoff, S., Weng, S. J., Carrasco, M., Welsh, R. C., Martin, D. M., and Monk, C. S., Neuroimage, 1/1/2012
• A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia  
  Bedoyan, J. K., Lesperance, M. M., Ackley, T., Iyer, R. K., Innis, J. W., and Misra, V. K., Am. J. Med. Genetics, 1/1/2011
• Microarray oligonucleotide probe designer: A Web service  
  Patel, V. C., Mondal, K., Shetty, A. C., Horner, V. L., Bedoyan, J. K., Martin, D. M. Caspary, T., Cutler, D. J., and Zwick, M. E., J. Open Access Bioinformatics, 1/1/2010
• Duplication 16p112 in a child with infantile seizure disorder  
  Bedoyan, J. K., Kumar, R. A., Sudi, J., Silverstein, F., Ackley, T., Iyer, R. K., Christian, S. L., and Martin, D. M., Am. J. Med. Genetics, 1/1/2010
• First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome  
  Bedoyan, J. K., Friez, M. J., DuPont, B. and Ahmad, A., Eur. J. Med. Genetics, 1/1/2009
• Branchiootorenal syndrome and oculoauriculovertebral spectrum features with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement  
  Ou, Z., Martin, D. M., Bedoyan, J. K., Cooper, M. L., Chinault, A. C., Stankiewicx, P. and Cheung, S. W., Am. J. Med. Genetics, 1/1/2008
• Cryptic duplication of 12q2433 qter in a child with Angelman syndrome – Simultaneous occurrence of two unrelated cytogenetic events  
  Sathanoori, M., Hu, J., Murthy, V., Byrnes, A., Vockley, J., Safier, R., Bedoyan, J., Jalal, S. M., Huber, H. and Surti, U., Am. J. Med. Genetics, 1/1/2007
• Transmission of ring chromosome 13 from a mother to daughter with both having a 46, XX, r(13)(p13q34) karyotype  
  Bedoyan, J. K., Flore, L. A., Alkatib, A., Ebrahim, S. and Bawle, E. V., Am. J. Med. Genetics, 1/1/2004
• Congenital diaphragmatic hernia: Associated anomalies and antenatal diagnosis: Outcome-related variables at two Detroit hospitals  
  Bedoyan, J. K., Blackwell, S. C., Treadwell, M. C., Johnson, A. and Klein, M. D., Ped. Surg. Intl., 1/1/2004
• Surgical outcomes after breast cancer surgery: measuring acute lymphedema  
  Kosir, M. A., Rymal, C., Koppolu, P., Hryniuk, L., Darga, L., Du, W., Rice, V., Mood, D., Shakoor, S., Wang, W., Bedoyan, J., Aref, A., Biernat, L. and Northouse, L., J. Surg. Res., 1/1/2001
• Condensation of rat telomere-specific nucleosomal arrays containing unusually short DNA repeats and histone H1  
  Bedoyan, J. K., Lejnine, S., Makarov, V. L. and Langmore, J. P., J. Biol. Chem., 1/1/1996
• Hemocoel Distribution of Concanavalin A among the tissues of Manduca sexta following bacterial injection  
  Kyriakides, T. R., Bedoyan, J. K. and Spence, K. D., Comp. Biochem. Physiol., 1/1/1994
• Nucleosomal organization of telomere-specific chromatin  
  Makarov, V., Lejnine, S., Bedoyan, J. and Langmore, J. P., Cell, 1/1/1993
• In vivo distribution of immune protein scolexin in bacteria-injected Manduca sexta larvae  
  Kyriakides, T. R., Bedoyan, J. K., Patil, C. S. and Spence, K. D., Tissue and Cell, 1/1/1993
• Effect of excess dietary glucose on growth and immune response of Manduca sexta  
  Bedoyan, J. K., Patil, C. S., Kyriakides, T. R. and Spence, K. D., J. Insect Physiol., 1/1/1992
• Transcription, nucleosome stability and DNA repair in a yeast minichromosome  
  Bedoyan, J., Gupta, R., Thoma, F. and Smerdon, M. J., J. Biol. Chem., 1/1/1992
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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
• Diagnosis of genetically unresolved subjects with functional pyruvate dehydrogenase complex deficiencies using advanced genomic technologies with functional confirmation
  Bedoyan, J. K., Miron, A., Huang, X., Demirbas Cakici, D., Anselm, I., Friederich, M., Zhang, S., Drumm, M., Van Hove, J., Berry, G. T., DeBrosse, S. D., Hoppel, C., a..., Mol. Genet. Metab., 1/1/2016
• The M405V allele of the glutaryl-CoA dehydrogenase gene is common among many glutaric aciduria Type I (GA-I) low excretors
  Schillaci, L. P., Greene, C. L., Strovel, E., Rispoli-Jones, J., Spector, E., Wootner, M., Scharer, G., Enns, G. M., Gallagher, R., Zinn, A. B., McCandless, S. E., Hop..., Mol. Genet. Metab., Society for Inherited Metabolic Disorders (SIMD) Annual Meeting, Ponte Vedra Beach, FL, 1/1/2016
• Diagnosis of Genetically Unresolved Subjects With Functional Pyruvate Dehydrogenase Complex Deficiencies Using Advanced Genomic Technologies with Functional Confirmation
  Bedoyan, J. K., Society for Inherited Metabolic Disorders (SIMD) Annual Meeting, Ponte Vedra Beach, FL, 1/1/2016
• Diagnostic Approaches in Inborn Errors of Metabolism: Focus on Disorders of Pyruvate Metabolism
  Bedoyan, J. K., Department of Medical and Molecular Genetics, Indiana University, Indianapolis, IN, 1/1/2016
• Novel SMC1A frameshift mutation in a mild phenotype of Cornelia de Lange syndrome with refractory status epilepticus
  Bedoyan, J. K., Goldstein, J. H. R., Tim-aroon, T., Merrill, M., Deeb, K. K. Zhang, S. and Bass, N. E., American College of Medical Genetics and Genomics (ACMGG) Annual Clinical Genetics Meeting, Salt Lake city, UT, 1/1/2015
• Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency: Case report and literature review
  Deeb, K. K., Bedoyan, J. K., Wang, R., Sremba, L., Schroeder, M. C., Grahame, G. J., Boyer, M., McCandless, S. E., Kerr, D. S., and Zhang, S., Mol. Genet. Metab., 36th Annual Meeting of the Society for Inherited Metabolic Disorders/American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting/United Mitochondrial Disease Foundation (UMDF) Symposium: Mitochondrial Medi, Pacific Grove, CA, 2014; Nashville, TN, 2014; Pittsburgh, PA, 2014, 1/1/2014
• Multi-nodular goiter associated with DICER1 mutation
  Darrat, I., Bedoyan, J. K., Chen, M., Schuette, J. L., and Lesperance, M. M., Annual Meeting of the American Society of Pediatric Otolaryngology, San Diego, CA, 1/1/2012
• Genetics in Cancer: Breast Cancer and More
  Bedoyan, J, Contemporary Breast Care Navigation Conference, St. John Macomb-Oakland Hospital, Macomb Center, Warren, MI, 1/1/2012
• X-Linked Intellectual Disability: Unique Vulnerability of Males but Females are Not Exempt
  Bedoyan, J, Pediatric Grand Rounds, St. John Hospital and Medical Center, Detroit, MI, 1/1/2012
• RAB40AL is mutated in Martin-Probst syndrome, an X-linked disorder characterized by sensorineural hearing loss, cognitive impairment, short stature, and craniofacial d...
  Bedoyan, J. K., Schaibley, V., Peng, W., Bai, Y., Mondal, K., Shetty, A.C., Durham, M., Dhiraaj, A., Skidmore, J., Kaplan, J. B., Skinner, C., Stevenson, R. E., Schwar..., 61st Annual Meeting of the American Society of Human Genetics, Montreal, Canada, 1/1/2011
• RAB40AL mutation causes Martin-Probst syndrome, an X-linked disorder characterized by sensorineural hearing loss, cognitive impairment, short stature, and craniofacial...
  Bedoyan, J. K., Schaibley, V., Peng, W., Bai, Y., Mondal, K., Shetty, A.C., Durham, M., Dhiraaj, A., Skidmore, J., Kaplan, J. B., Skinner, C., Stevenson, R. E., Schwar..., Child Health Research Centers (CHRC) Annual Retreat/NICHD, Durham, NC, 1/1/2011
• Altered intrinsic functional connectivity relates to 5-HTTLPR genotype in autism spectrum disorders
  Wiggins, J. L., Peltier, S. J., Bedoyan, J. K., Ashinoff, S., Weng, S. J., Carrasco, M., Lord, C., Martin, D. M., and Monk, C. S., 16th Annual Human Brain Mapping Conference, Barcelona, Spain, 1/1/2010
• Altered functional connectivity during rest is related to 5-HTTLPR genotype in autism spectrum disorders
  Wiggins, J. L., Peltier, S. J., Bedoyan, J. K., Ashinoff, S., Weng, S. J., Carrasco, M., Lord, C., Martin, D. M., and Monk, C. S., International Meeting for Autism Research (IMFAR), Philadelphia, PA, 1/1/2010
• Candidate Gene Identification for Distinct Mendelian Disorders Using Exome Resequencing
  Schaibley, V., Bedoyan, J. K., Peng, W., Bai, Y., Xu, J., Mondal, K., Shetty, A.C., Zwick, M. E., Cavalcoli, J. D., Keegan, C. Martin, D. M., and Li, J, 60th Annual Meeting of the American Society of Human Genetics, Washington, DC, 1/1/2010
• A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia
  Bedoyan, J. K., Lesperance, M. M., Ackley, T., Iyer, R. K., Innis, J. W., and Misra, V. K., 51st Annual Short Course on Medical and Experimental Mammalian Genetics, The Jackson Laboratory/Johns Hopkins University, Bar Harbor, ME, 1/1/2010
• 5-HTTLPR genotype moderates functional connectivity during rest in autism spectrum disorders
  Wiggins, J. L., Bedoyan, J. K., Orr, M., Ashinoff, S., Weng, S. J., Carrasco, M., Welsh, R. C., Peltier, S. J., Lord, C., Martin, D. M., and Monk, C. S., Pediatric Research Symposium, University of Michigan, Ann Arbor, MI, 1/1/2010
• Potential epigenetic role for CHD7 in POU3F4 and MLLT3 regulation
  Bedoyan, J. K., Hurd, E. A., Thompson, R. C., Bochar, D. A., and Martin, D. M., Pediatric Research Symposium, University of Michigan, Ann Arbor, MI, 1/1/2010
• Whole genome and exome sequencing identifies RAB40AL mutations as the cause of Martin-Probst syndrome
  Bedoyan, J. K., Schaibley, V., Peng, W., Bai, Y., Mondal, K., Shetty, A. C., Stowell, J., Skidmore, J. M., Kaplan, J. B., Skinner, C. Stevenson, R. E., Schwartz, C. E...., Pediatric Research Symposium, University of Michigan, Ann Arbor, MI, 1/1/2010
• A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia
  Bedoyan, J. K., Lesperance, M. M., Ackley, T., Iyer, R. K., Innis, J. W., and Misra, V. K., Pediatric Research Symposium, University of Michigan, Ann Arbor, MI, 1/1/2010
• Abnormal functional connectivity during rest is moderated by 5-HTTLPR genotype in autism spectrum disorders
  Wiggins, J. L., Peltier, S. J., Bedoyan, J. K., Weng, S. J., Carrasco, M., Ashinoff, S., Risi, S., Lord, C. E., Martin, D. M., and Monk, C. S., Pediatric Research Symposium, University of Michigan, Ann Arbor, MI, 1/1/2009
• Candidate gene analysis for Martin-Probst syndrome
  Kaplan, J. B., Bedoyan, J. K., Skidmore, J. M., Billi, A. C., Bai, Y., Cavalcoli, J. D., Li, J., and Martin, D. M., Pediatric Research Symposium and Biomedical Research Forum, University of Michigan, Ann Arbor, MI, 1/1/2009
• Genetics for the Practicing Pediatrician
  Bedoyan, J, Pediatrics Grand Rounds, William Beaumont Hospital, Royal Oak, MI, 1/1/2008
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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
• X-Linked Intellectual Disability: Diagnostic Approaches, and Implications 
  Case Western Reserve University, Cleveland, OH - 1/1/2014
• Zebrafish model for human multiple acyl-CoA dehydrogenase def 
  Center for Inherited Disorders of Energy Metabolism (CIDEM) Laboratory - 1/1/2014
• Practical Metabolism 
  Department of Pediatrics, Rainbow Babies and Children’s Hospital, Cleveland, OH - 1/1/2014
• Disruption of Na+, K+ ATPase activity as possible mechanism for brain injury in glutaric aciduria type I (GA-I) 
  Center for Inherited Disorders of Energy Metabolism (CIDEM) Laboratory - 1/1/2014
• Preliminary Analysis of Genetically Unresolved Pyruvate Dehydrogenase Complex-Deficient Patients by Whole Exome Sequencing 
  University Hospitals Cleveland Medical Center, Cleveland, OH - 1/1/2014
• Glutaric Aciduria Type I: Cases and Lessons Learned 
  University Hospitals Cleveland Medical Center, Cleveland, OH - 1/1/2014
• Preliminary analysis of genetically unresolved pyruvate dehydrogenase (PDC)-deficient patients by whole exome sequencing (WES) 
  CWRU - 1/1/2014
• A nuclear pyruvate dehydrogenase complex (PDC) is important for the generation of acetyl-CoA and histone acetylation 
  Center for Inherited Disorders of Energy Metabolism (CIDEM) Laboratory - 1/1/2014
• Diagnostic Approaches to Birth Defects and Genetic Disorders: Cases, Implications, and Lessons 
  Rainbow Babies and Children’s Hospital, Cleveland, OH - 1/1/2013
• Genomics and Personalized Medicine: Utility in Clinical Testing – Inherited Disorders 
  University Hospitals Cleveland Medical Center, Cleveland, OH - 1/1/2013
• Functional and Next Generation Approaches to Disorders of Pyruvate Metabolism: Research Update 
  University Hospitals Cleveland Medical Center, Cleveland, OH - 1/1/2013
• X-Linked Intellectual Disability: Unique Vulnerability of Males Cases, Diagnostic Approaches, and Implications 
  Case Western Reserve University, Cleveland, OH - 1/1/2013
• Urea Cycle Disorders: OTC case 
  Department of Pediatrics, University of Michigan - 1/1/2012
• X-Linked Intellectual Disability Review 
  University of Michigan - 1/1/2012
• Another Face to MSUD 
  University of Michigan, Ann Arbor, MI - 1/1/2012
• Investigations into a Rare Syndromic X-Linked Human Disorder 
  University of Michigan, Ann Arbor, MI - 1/1/2011
• RAB40AL mutation causes Martin-Probst syndrome, an X-linked disorder characterized by sensorineural hearing loss, cognitive impairment, short stature, and craniofacial... 
  Durham, NC - 1/1/2011
• Noonan syndrome 
  Department of Pediatrics, University of Michigan - 1/1/2011
• Noonan syndrome and Williams syndrome 
  Department of Pediatrics, University of Michigan - 1/1/2011
• Tuberous sclerosis: Neural, renal, and pulmonary manifestations 
  University of Michigan - 1/1/2011
• Turner syndrome and Y chromosome 
  University of Michigan - 1/1/2011
• Familial Mediterranean Fever 
  University of Michigan - 1/1/2011
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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