Cornelius F. Boerkoel, MD, PhD

Associate Professor, Provincial Medical Genetics Program Department of Medical Genetics, University of British Columbia Clinician Scientist, Child & Family Research Institute Co-Founder & Co-Director, Rare Disease Foundation Children's and Women's Health Centre of BC Rm. C234 - 4500 Oak Street Vancouver, BC, V6H 3N1, Canada Tel: 604-875-2157 Fax: 604-875-2376 Email:

Research interests: Studying inherited human disorders to understand human development, behaviour, physiology and degeneration. Emphasis on neurological, neuromuscular, and psychiatric diseases. Objective is to improve care.

Selected Publications :

Boerkoel, C. F., M. Nowaczyk, S. Blaser, R. Weksberg. 1998. Schimke immunoosseous dysplasia complicated by moyamoya phenomenon. Am. J. Med. Genet. 78: 118-122.

Boerkoel, C.F., S. O'Neill, J.L. André, P.J. Benke, R. Bogdanovi´c, M. Bulla, A. Burguet, S. Cockfield, I. Cordeiro, J.H.H. Ehrich, S. Fründ, D.F. Geary, A. Ieshima, F. Illies, M.W. Joseph, I. Kaitila, G. Lama, B. Leheup, M.D. Ludman, D.R. McLeod, A. Medeira, D.V. Milford, T. Örmälä, Z. Rener-Primec, A. ˜Santavá, H.G. Santos, B. Schmidt, G.C. Smith, J. Spranger, N. Zupancic and R. Weksberg. 2000. Schimke immunoosseous dysplasia: manifestations and treatment. Eur. J. Pediatr. 159: 1-7.

Boerkoel, C.F., H. Takashima, J. John, J. Yan, P. Stankiewicz, L. Rosenbarker, J.-L. André, R. Bogdanovic, A. Burguet, S. Cockfield, I. Cordeiro, Stefan Frund, F. Illies, M. Joseph, I. Kaitila, G. Lama, C. Loriat, D.R. McLeod, D. Milford, E.M. Petty, F. Rodrigo, J.M. Saraiva, B. Schmidt, G. C. Smith, J. Spranger, A Stein, H. Thiele, R. Weksberg, J.R. Lupski and D.W. Stockton. 2002. Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nat. Genet. 30: 215-220.

Lou, S., P. Lamfers, N. McGuire, C.F. Boerkoel. 2002. Longevity in Schimke immuno-osseous dysplasia. J. Med. Genet. 39: 922-925.

Takashima*, H., C.F. Boerkoel*, J. John, G.M. Saifi, M.A.M. Salih,D. Armstrong, Y. Mao, F.A. Quiocho, B.B. Roa, M. Nakagawa, D.W. Stockton and J.R. Lupski. 2002. Mutation of Tdp1, a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nat. Genet. 32: 267-272. (*Authors contributed equally.)

Huang, C., E. Sloan and C.F. Boerkoel. 2003. Chromatin remodeling and human disease. Curr. Opin. Genet. Devel. 13: 246-252.

Cho, K.S, L. Elizondo and C.F. Boerkoel. 2004. Recent advances in chromatin remodeling and human disease. Curr. Opin. Genet. Devel. 14: 308-315.

Kilic, S. S., O. Donmez, E. A. Sloan, L. Elizondo, C. Huang, J.-L. André, S. Cockfield, I. Cordeiro, G. Deschenes, S. Fründ, I Hansmann, I. Kaitila, G. Lama, P. Lamfers, T. Lücke, D. V. Milford, L. Najera, F. Rodrigo, J. M. Saraiva, B. Schmidt, G. C. Smith, A. Stein, D. Taha, C. F. Boerkoel. 2005. Association of migraine headaches with Schimke immunoosseous dysplasia. Am. J. Med. Genet. 135A: 206-210.

Elizondo, L.I. C. Huang, J. L. Northrop, K. Deguchi, J. M. Clewing, D. L. Armstrong, C. F. Boerkoel. 2006. Schimke immuno-osseous dysplasia: a cell autonomous disorder? Am. J. Med. Genet. 40:340-8.

Clewing JM, Antalfy BC, Lucke T, Najafian B, Marwedel KM, Hori A, Powel Jr RM, Do AF, Najera L, Santacruz K, Hicks MJ, Armstrong DL, Boerkoel CF. 2006. Schimke immuno-osseous dysplasia: a clinicopathological correlation. J Med Genet. In press.