JirairKrikorBedoyanMD PhD(He/Him)

Medical Genetics • Pittsburgh, PA

Clinical Biochemical Genetics, Clinical Genetics, Medical Biochemical Genetics

Associate Professor, Pediatrics

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Office
4401 Penn Ave
Pittsburgh, PA 15224
Phone+1 412-692-5070

Fax+1 412-692-6472

Summary

I am a trained clinical and biochemical geneticist with significant clinical management and clinical and translational research experiences in medical genetics. I have applied high-throughput sequencing (NGS, WES and/or WGS) and chromosomal microarray technologies as well as enzymatic tests in my research of rare neurodevelopmental disorders and disorders of pyruvate metabolism (DPM) such as pyruvate dehydrogenase complex deficiencies (PDCDs) as well as in the clinical arena for diagnosing rare and complex genetic disorders and other inborn errors of metabolism (IEM). My short-term goals include (1) application of high-throughput sequencing as a “hypothesis free” approach to identify the genetic etiology of complex metabolic conditions, such as primary- and secondary-PDCDs, urea cycle disorders (UCDs) and other mitochondrial disorders (MtDs), in order to improve diagnosis, management and design of future clinical trials of therapeutic interventions including small molecule and/or gene therapy for such disorders; (2) identification of biomarkers for implementation in newborn screening (NBS) for disorders associate with congenital lactic acidosis; (3) piloting a NBS protocol for early diagnosis of primary-specific PDCD newborns/infants for early intervention with ketogenic diet or other novel therapies; (4) use of high-throughput sequencing tools or molecular testing as 2nd tier test to optimize NBS for PDCD, glutaric acidemia type I and other metabolic disorders; (5) understanding the toxicity mechanism(s) of certain accumulating acyl-CoAs and other metabolites in the pathophysiology of specific organic acidemias (OAs) such as propionic and methylmalonic acidemias; and (6) understand specific disease-causing missense variants of PDHA1 and PDHB causing PDCD in the context of 3D E1 crystal structure, impacting structure and function, clinical phenotype, and novel therapies for PDCD.

Education & Training

Case Western Reserve University/University Hospitals Cleveland Medical CenterFellowship, Medical Biochemical Genetics, 2012 - 2014
University of MichiganResidency, Medical Genetics and Genomics, 2007 - 2010
UPMC Medical EducationResidency, Pediatrics, 2004 - 2007
Wayne State University School of MedicineClass of 2004
University of MichiganPhD, Cellular and Molecular Biology, 1992 - 1996
Washington State UniversityM.Sc., Microbiology, 1987 - 1989
Washington State UniversityB.Sc., Chemistry, Cum Laude, 1982 - 1987

Certifications & Licensure

MI State Medical License 2007 - 2026
OH State Medical License 2012 - 2025
PA State Medical License 2007 - 2024
American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
American Board of Medical Genetics and Genomics Clinical Genetics and Genomics

Awards, Honors, & Recognition

Fellow American College of Medical Genetics and Genomics
Above and Beyond Honors Wood County Department of Job and Family Services, 2013
Recognized on National Doctor’s Day on Mott Facebook, MI for excellence of care 2012
Faculty Award for Basic Science Research University of Michigan, 2011
Mark A. Sperling Pediatric Resident Scholarly Project Research Award University of Pittsburgh, 2007
Honorable Mention Poster Award MI Chapter ACP-ASIM, Wayne State University, 2002
Board of Governors (BOG) Medical Scholarship Wayne State University, 2000
Predoctoral Training Award University of Michigan, 1992
Phi Beta Kappa 1985
Calouste Gulbenkian Foundation Scholarship Washington State University, 1983
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Clinical Trials

Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies Start of enrollment: 2015 Sep 01
Recruiting

Publications & Presentations

PubMed

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
A novelAla469Val variant resulting in glycerol kinase deficiency with concurrent hepatoblastoma: A case report.
Domenic Filingeri, Sarah Mackey, Haley Soller, Alissa Guarneri-Tragone, James Cooper
Molecular Genetics and Metabolism Reports. 2024-03-01
1 citations
Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism.
Anisha Verma, April N Lehman, Hatice Gokcan, Lorna Cropcho, Danielle Black
Molecular Genetics & Genomic Medicine. 2024-01-01

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

Professional Memberships

American Medical Association - AMA
Member
American College of Medical Genetics and Genomics
Fellow
American College of Medical Genetics and Genomics
Member
Society for Inherited Metabolic Disorders
Member

Other Languages

Armenian, Arabic, French