Schlade-Bartusiak, Kamilla

Portrait photo of Kamilla Schlade-Bartusiak

Dr.

Schlade-Bartusiak, Kamilla

PhD FCCMG

Academic Ranks(s):

Clinical Professor, UBC, Cytogenetic Laboratory, BCCH

Affiliations(s):

BCCH/BCCHRI

ksbartusiak@cw.bc.ca

Short Bio
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Academic
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Academic Background

  • MSc (Molecular Genetics) University of Wroclaw, Poland, 1993-1995
  • PhD (Cytogenetics) Wroclaw Medical University, Poland, 1995-2000
  • Postdoctoral Fellow (Cytogenetics) Wroclaw Medical University, 2000-2003
  • Postdoctoral Fellow (Medical Genetics) University of Alberta, Edmonton, 2003-2008
  • CCMG Fellowship (Clinical Cytogenetics), Calgary/Vancouver, 2008-2009
  • FCCMG (Clinical Cytogenetics), 2010

Awards and Recognition

Publications

  • Schlade-Bartusiak K, Tucker T, Safavi H, Livingston J, van Allen MI, Eydoux P, Armstrong L. Independent post-zygotic breaks of a dicentric chromosome result in mosaicism for an inverted duplication deletion 9p and terminal deletion 9p. Eur J Med Genet. 2013 May;56(5):229-35.
  • Schlade-Bartusiak K, Brown L, Lomax B, Bruyère H, Gillan T, Hamilton S, McGillivray B, Eydoux P. BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1). Am J Med Genet A. 2012 Sep;158A(9):2322-7.
  • Tucker T, Schlade-Bartusiak K, Eydoux P, Nelson TN, Brown L. Uniparental disomy: can SNP array data be used for diagnosis? Genet Med. 2012 Apr 26.
  • Tucker T, Nelson T, Sirrs S, Roughley P, Glorieux FH, Moffatt P, Schlade-Bartusiak K, Brown L, Rauch F. A co-occurrence of osteogenesis imperfecta type VI and cystinosis. Am J Med Genet A. 2012 Jun;158A(6):1422-6. 
  • Wilson AME., Schlade-Bartusiak K., Tison JL., Macintyre G., Cox DW.: A minigene approach to analyzing ATP7B splicing variants identified in patients with Wilson disease. Biochimie 2009, 91:1342-5.
  • Schlade-Bartusiak K., Ardinger H., Cox DW.: A child with terminal 14q deletion syndrome: consideration of genotype-phenotype correlations. Am. J. Med. Genet. 2009; 149A:1012-1018.
  • Schlade-Bartusiak K., Macintyre G., Zunich J., Cox DW.: A child with deletion (14)(q24.3q32.2) and auditory neuropathy. Am. J. Med. Genet. 2008, 146A:117-23.
  • Stembalska A., Laczmanska I., Schlade-Bartusiak K., Czemarmazowicz H., Murawski M., Sasiadek M.: Recombinant chromosome 4 resulting from a maternal pericentric inversion in two sisters presenting consistent dysmorphic features. Eur. J. Pediatr. 2007, 166: 67-71.
  • Laczmanska I., Gil J., Karpinski P., Stembalska A., Kozlowska J., Busza H., Trusewicz A., Pesz K., Ramsey D., Schlade-Bartusiak K., Blin N., Sasiadek MM.: Influence of polymorphisms in xenobiotic-metabolizing genes and DNA-repair genes on diepoxybutane-induced SCE frequency. Environ. Mol. Mutagen. 2006, 47: 666-673.
  • Schlade-Bartusiak K., Sasiadek MM., Bar J., Urbschat S., Blin N., Montenarh M., HarlozinskaA.: Cytogenetic and molecular cytogenetic characterisation of the stable ovarian carcinoma cell line (OvBH-1). Cancer Genet. Cytogenet. 2006, 164: 10-15.
  • Schlade-Bartusiak K., Stembalska A., Ramsey D.: Significant involvement of chromosome 13q deletions in progression of larynx cancer detected by CGH. J. Appl. Genet. 2005, 46: 407-413.
  • Schlade-Bartusiak K., Costa T., Summers A., Cox DW.: FISH-mapping of telomeric 14q32 deletions: search for the cause of seizures. Am. J. Med. Genet. 2005, 138A: 218-224.
Research
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Research Interest

  • Array applications in clinical cytogenetics
  • Mechanisms of formation of chromosome aberrations
  • Genotype-phenotype correlations

Chromosomal Microarry (CMA) is a technique enabling high-resolution, genome-wide screening of chromosomal imbalances. It has become and essential and routine diagnostic tool gradually replacing the lower resolution karyotype analysis. It allows for delineation of novel recurrent microdeletion/microduplication syndromes. SNP-based CMA technology allows also for detection of copy number neutral phenomena, like uniparental disomy and regions of homozygosity. As a cytogeneticist, I am interested in clinical and research applications of array technology. That includes better characterization of known and novel syndromes caused by chromosomal aberrations, as well as disease gene discovery.

Current Projects In My Lab Include

Teaching
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Teaching Interest