Academic Rank:
Clinical Associate Professor, UBC
Cytogenetic Laboratory, BCCH
Affiliation(s):
BCCH/BCCHRI

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

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.
Primary Research Area
• Genetics, genomics proteomics and related approaches

Research Interest

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

Summary

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.