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Dennis E. Bulman, PhD, FCCMG, FACMG photo of Dennis Bulman
Director, Molecular Biomedicine Program, CHEO Research Institute
Senior Scientist, CHEO Research Institute & Newborn Screening Ontario
Affiliate Member, Regenerative Medicine Program, OHRI
Full Professor, Department of Pediatrics, Faculty of Medicine,
University of Ottawa
613-737-7600 Ext. 3876
Research Practice Areas:
Current Research:
Dr. Bulman’s research interests involve the identification of genes for rare genetic disorders, the translation of these discoveries to the clinic and the implementation of new molecular testing paradigms into Newborn screening. The lab uses a variety of genetic technologies from genetic mapping, candidate Sanger sequencing, CGH, exome and whole genome sequencing.
  • Our focus is to identify new genes causing Parkinson's Disease and to identify those genes responsible for PD in Eastern Ontario/Western Quebec.
  • Our focus is to identify new genes causing Brachydactyly A-1.
  • Our focus is to identify new genes causing Myoclonus Dystonia and to determine how mutations in the known disease-causing gene, epsilon sarcoglycan, lead to this disorder.

Research Team:
After completing a B.Sc. in Genetics and a M.Sc. in Microbiology and Immunology at the University of Western Ontario, Dr. Bulman graduated with a Ph.D. in Molecular and Medical Genetics at the University of Toronto 1993. He then went on to a faculty position at the University of Western Ontario in the Department of Clinical Neurological Sciences. In 1997 he moved to Ottawa where he joined the Ottawa Hospital Research Institute. He is certified by the Canadian College of Medical Geneticists and the American College of Medical Genetics in Clinical Molecular Genetics and is also a Diplomat of the American Board of Medical Genetics. In 2012, he joined Newborn Screening Ontario and the Children’s Hospital of Eastern Ontario Research Institute.
Sample Publications:
Armour CM, Smith A, Hartley T, Chardon JW, Sawyer S, Schwartzentruber J, Hennekam R, Majewski J, Bulman DE, Suri M, Boycott KM. Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events. Am J Med Genet A 2016; 170(7):1820-1825. 
Lines, MA., Huang, L., Schwartzentruber , J., Douglas, SL., Lynch, DC., Beaulieu, C., Guion-Almeida, ML., Zechi-Ceide, RM., Gener, B., Gillessen-Kaesbach, G., Nava, C., Baujat, G., Horn, D., Kini, U., Caliebe, A., Alanay, Y., Utine, GE., Lev, D., Kohlhase, J., Grix, AW., Lohmann, DR., Hehr, U., Böhm, D., Majewski, J., Bulman, DE., Wieczorek, D., Boycott, KM. (2012) Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly Am J Hum Genet. 90, 369-377. PMID: 22305528

Rivière JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL; Finding of Rare Disease Genes (FORGE) Canada Consortium, Majewski J, Bulman DE, O'Driscoll M, Shendure J, Graham JM Jr, Boycott KM, Dobyns WB. (2012) De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet. 44, 934-940. PMID: 22729224

Allanson J, Smith A, Hare H, Albrecht B, Bijlsma E, Dallapiccola B, Donti E, Fitzpatrick D, Isidor B, Lachlan K, Le Caignec C, Prontera P, Raas-Rothschild A, Rogaia D, van Bon B, Aradhya S, Crocker SF, Jarinova O, McGowan-Jordan J, Boycott K, Bulman D, Fagerberg CR. (2012) Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype. Am J Med Genet A. 158 A, 2091-2099. PMID: 22821852
McMillan HJ, Worthylake T, Schwartzentruber J, Gottlieb CC, Lawrence SE, Mackenzie A, Beaulieu CL, Mooyer PA, Forge Canada Consortium, Wanders RJ, Majewski J, Bulman DE, Geraghty MT, Ferdinandusse S, Boycott KM. (2012) Specific combination of compound heterozygous mutations in 17beta-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency. Orphanet J Rare Dis. 7(1):90. PMID: 23181892

McDonell LM, Mirzaa GM, Alcantara D, Schwartzentruber J, Carter MT, Lee LJ, Clericuzio CL, Graham JM Jr, Morris-Rosendahl DJ, Polster T, Acsadi G, Townshend S, Williams S, Halbert A, Isidor B, David A, Smyser CD, Paciorkowski AR, Willing M, Woulfe J, Das S, Beaulieu CL, Marcadier J; FORGE Canada Consortium, Geraghty MT, Frey BJ, Majewski J, Bulman DE, Dobyns WB, O'Driscoll M, Boycott KM. (2013) Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. Nat Genet. 45:556-62. PMID:23542699

Nikkel SM, Dauber A, de Munnik S, Connolly M, Hood RL, Caluseriu O, Hurst J, Kini U, Nowaczyk MJ, Afenjar A, Albrecht B, Allanson JE, Balestri P, Ben-Omran T, Brancati F, Cordeiro I, da Cunha BS, Delaney LA, Destrée A, Fitzpatrick D, Forzano F, Ghali N, Gillies G, Harwood K, Hendriks YM, Héron D, Hoischen A, Honey EM, Hoefsloot LH, Ibrahim J, Jacob CM, Kant SG, Kim CA, Kirk EP, Knoers NV, Lacombe D, Lee C, Lo IF, Lucas LS, Mari F, Mericq V, Moilanen JS, Møller ST, Moortgat S, Pilz DT, Pope K, Price S, Renieri A, Sá J, Schoots J, Silveira EL, Simon ME, Slavotinek A, Temple IK, van der Burgt I, de Vries BB, Weisfeld-Adams JD, Whiteford ML, Wierczorek D, Wit JM, Yee CF, Beaulieu CL, White SM, Bulman DE, Bongers E, Brunner H, Feingold M, Boycott KM. (2013) The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. Orphanet J Rare Dis.;8(1):63. [Epub ahead of print] PMID:23621943.

Beaulieu CL, Huang L, Innes AM, Akimenko MA, Puffenberger EG, Schwartz C, Jerry P, Ober C, Hegele RA, McLeod DR, Schwartzentruber J, Majewski J, Bulman DE, Parboosingh JS, Boycott KM. (2013) Intellectual disability associated with a homozygous missense mutation in THOC6. Orphanet J Rare Dis. 8(1):62. [Epub ahead of print] PMID:23621916.
Klionsky DJ, Bulman DE et al., (2012) Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy 8, 445-544. PMID: 22966490 
Copeland E, Renault N, Renault M, Dyack S, Bulman DE, Bedard K, Otley A, Magee F, Acott P, Greer WL. (2012) A Novel Splice-Site Mutation in ATP8B1 Results in Atypical Progressive Familial Intrahepatic Cholestasis Type 1. J Gastroenterol Hepatol. 28:560-4. PMID: 23033845

Huang L, Chardon JW, Carter MT, Friend KL, Dudding TE, Schwartzentruber J, Zou R, Schofield PW, Douglas S, Bulman DE, Boycott KM. (2012) Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia. Orphanet J Rare Dis. 7(1):67. PMID: 22986007
Gibson WT, Hood RL, Zhan SH, Bulman DE, Fejes AP, Moore R, Mungall AJ, Eydoux P, Babul-Hirji R, An J, Marra MA; FORGE Canada Consortium, Chitayat D, Boycott KM, Weaver DD, Jones SJ. (2012) Mutations in EZH2 Cause Weaver Syndrome. Am J Hum Genet 90, 110-8. PMID: 22177091

Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, Allanson J, Kim CA, Wieczorek D, Moilanen JS, Lacombe D, Gillessen-Kaesbach G, Whiteford ML, Quaio CR, Gomy I, Bertola DR, Albrecht B, Platzer K, McGillivray G, Zou R, McLeod DR, Chudley AE, Chodirker BN, Marcadier J; FORGE Canada Consortium, Majewski J, Bulman DE, White SM, Boycott KM. (2012) Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome. Am J Hum Genet. 90, 308-313. PMID: 22265015 

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