• Schlade-Bartusiak, Kamilla

    Titles
    Investigator, BC Children's Hospital
    Clinical Associate Professor, Department of Pathology & Laboratory Medicine, Faculty of Medicine, University of British Columbia
    Degrees / Designations
    PhD, FCCMG
    Primary Area of Research
    Childhood Diseases
    Secondary Area(s) of Research
    Phone
    604-875-2000 ext. 7512
    Fax
    604-875-3601
    Lab Phone
    Mailing Address
    Affiliate Websites
    Research Areas
    • 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.
    Current Projects
    Selected Publications

    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. PMID: 19540904

    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. PMID: 19365838

    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. PMID: 18074379

    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. PMID: 17013597

    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. PMID: 17078101

    Pasinska M., Haus O., Skonieczna K., Slezak R., Midro AT., Stasiewicz-Jarocka B., Szczepaniak M., Adamczak R., Marcinkowska A., Bartusiak K.: The results of cytogenetic and molecular genetic examinations in 35 couples with primary sterility. Wiad. Lek. 2006, 59: 38-43. (Polish) PMID: 16646290

    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. PMID: 16364757

    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. PMID: 16278516

    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. PMID: 16152642

    Grants
    Honours & Awards
    Research Group Members