- Overview
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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.
- Publications
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Using long-read sequencing to detect and subtype a case with Temple syndrome
Journal of Medical Genetics
Dada, S. and Akbari, V. and Hejla, D. and Shen, Y. and Dixon, K. and Choufani, S. and Weksberg, R.A. and Boerkoel, C.F. and Stewart, L. and Schlade-Bartusiak, K. and Strong, E. and Fox, D. and Gamu, D. and Gibson, W.T. and Jones, S.J.M.
DOI: 10.1136/jmg-2024-110262
2025Long-read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia
American Journal of Medical Genetics, Part A
Boerkoel, P.K. and Dixon, K. and Fitzsimons, C. and Shen, Y. and Huynh, S. and Schlade-Bartusiak, K. and Culibrk, L. and Chan, S. and Boerkoel, C.F. and Jones, S.J.M. and Chin, H.-L.
DOI: 10.1002/ajmg.a.62676
2022Mosaic embryo transfer—first report of a live born with nonmosaic partial aneuploidy and uniparental disomy 15
F and S Reports
Schlade-Bartusiak, K. and Strong, E. and Zhu, O. and Mackie, J. and Salema, D. and Volodarsky, M. and Roberts, J. and Steinraths, M.
DOI: 10.1016/j.xfre.2022.05.003
2022An approach to rapid characterization of DMD copy number variants for prenatal risk assessment
American Journal of Medical Genetics, Part A
Chin, H.-L. and O'Neill, K. and Louie, K. and Brown, L. and Schlade-Bartusiak, K. and Eydoux, P. and Rupps, R. and Farahani, A. and Boerkoel, C.F. and Jones, S.J.M.
DOI: 10.1002/ajmg.a.62349
2021Clinical and molecular characterization of an almost complete ring chromosome 4 in two sisters, with recurrence due to gonadal mosaicism
Clinical Dysmorphology
Phillips, E.A. and Caluseriu, O. and Schlade-Bartusiak, K. and Chernos, J. and McLeod, D.R. and Thomas, M.A.
DOI: 10.1097/MCD.0000000000000382
2021Incidental finding of paternal UPD15 in a child with a deletion of 11q21-q22.3, presenting with developmental delay, coloboma and characteristic dysmorphic features
Clinical Dysmorphology
Tucker, T. and Steinraths, M. and Oh, T. and Nelson, T.N. and Van Allen, M.I. and Brown, L. and Schlade-Bartusiak, K.
DOI: 10.1097/MCD.0000000000000108
2016Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins
Human Genetics
Szafranski, P. and Gambin, T. and Dharmadhikari, A.V. and Akdemir, K.C. and Jhangiani, S.N. and Schuette, J. and Godiwala, N. and Yatsenko, S.A. and Sebastian, J. and Madan-Khetarpal, S. and Surti, U. and Abellar, R.G. and Bateman, D.A. and Wilson, A.L. and Markham, M.H. and Slamon, J. and Santos-Simarro, F. and Palomares, M. and Nevado, J. and Lapunzina, P. and Chung, B.H.-Y. and Wong, W.-L. and Chu, Y.W.Y. and Mok, G.T.K. and Kerem, E. and Reiter, J. and Ambalavanan, N. and Anderson, S.A. and Kelly, D.R. and Shieh, J. and Rosenthal, T.C. and Scheible, K. and Steiner, L. and Iqbal, M.A. and McKinnon, M.L. and Hamilton, S.J. and Schlade-Bartusiak, K. and English, D. and Hendson, G. and Roeder, E.R. and DeNapoli, T.S. and Littlejohn, R.O. and Wolff, D.J. and Wagner, C.L. and Yeung, A. and Francis, D. and Fiorino, E.K. and Edelman, M. and Fox, J. and Hayes, D.A. and Janssens, S. and De Baere, E. and Menten, B. and Loccufier, A. and Vanwalleghem, L. and Moerman, P. and Sznajer, Y. and Lay, A.S. and Kussmann, J.L. and Chawla, J. and Payton, D.J. and Phillips, G.E. and Brosens, E. and Tibboel, D. and de Klein, A. and Maystadt, I. and Fisher, R. and Sebire, N. and Male, A. and Chopra, M. and Pinner, J. and Malcolm, G. and Peters, G. and Arbuckle, S. and Lees, M. and Mead, Z. and Quarrell, O. and Sayers, R. and Owens, M. and Shaw-Smith, C. and Lioy, J. and McKay, E. and de Leeuw, N. and Feenstra, I. and Spruijt, L. and Elmslie, F. and Thiruchelvam, T. and Bacino, C.A. and Langston, C. and Lupski, J.R. and Sen, P. and Popek, E. and Stankiewicz, P.
DOI: 10.1007/s00439-016-1655-9
2016Diagnostic accuracy of chromosome microarray in children with epilepsy and neurological abnormalities of unknown aetiology
Journal of Medical Genetics
Sarah E Buerki and Erin Slade and Kamilla Schlade-Bartusiak and Lindsay Brown and Evica Rajcan-Separovic and Patrice Eydoux and Mary B Connolly and Michelle K Demos
DOI: 10.1136/jmedgenet-2015-103577.18
11/2015Chromosome microarray and non-coding DNA copy number variants – a case of alveolar capillary dysplasia at FOXF1 locus
Journal of Medical Genetics
Kamilla Schlade-Bartusiak and Eric Gagne and Glenda Hendson and Margaret McKinnon
DOI: 10.1136/jmedgenet-2015-103577.10
11/2015Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: An unusual clinical picture
Journal of Pediatric Endocrinology and Metabolism
Harel, S. and Cohen, A.S.A. and Hussain, K. and Flanagan, S.E. and Schlade-Bartusiak, K. and Patel, M. and Courtade, J. and Li, J.B.W. and Van Karnebeek, C. and Kurata, H. and Ellard, S. and Chanoine, J.-P. and Gibson, W.T.
DOI: 10.1515/jpem-2014-0265
2015Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication
American Journal of Medical Genetics, Part A
Filges, I. and Sparagana, S. and Sargent, M. and Selby, K. and Schlade-Bartusiak, K. and Lueder, G.T. and Robichaux-Viehoever, A. and Schlaggar, B.L. and Shimony, J.S. and Shinawi, M.
DOI: 10.1002/ajmg.a.36605
2014Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.
Brain : a journal of neurology
Harlalka, G.V. and Lehman, A. and Chioza, B. and Baple, E.L. and Maroofian, R. and Cross, H. and Sreekantan-Nair, A. and Priestman, D.A. and Al-Turki, S. and McEntagart, M.E. and Proukakis, C. and Royle, L. and Kozak, R.P. and Bastaki, L. and Patton, M. and Wagner, K. and Coblentz, R. and Price, J. and Mezei, M. and Schlade-Bartusiak, K. and Platt, F.M. and Hurles, M.E. and Crosby, A.H.
DOI: 10.1093/brain/awt270
2013Independent post-zygotic breaks of a dicentric chromosome result in mosaicism for an inverted duplication deletion 9p and terminal deletion 9p
European Journal of Medical Genetics
Schlade-Bartusiak, K. and Tucker, T. and Safavi, H. and Livingston, J. and van Allen, M.I. and Eydoux, P. and Armstrong, L.
DOI: 10.1016/j.ejmg.2013.01.013
2013BPES 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)
American Journal of Medical Genetics, Part A
Schlade-Bartusiak, K. and Brown, L. and Lomax, B. and Bruyère, H. and Gillan, T. and Hamilton, S. and McGillivray, B. and Eydoux, P.
DOI: 10.1002/ajmg.a.35516
2012Uniparental disomy: Can SNP array data be used for diagnosis?
Genetics in Medicine
Tucker, T. and Schlade-Bartusiak, K. and Eydoux, P. and Nelson, T.N. and Brown, L.
DOI: 10.1038/gim.2012.35
2012A co-occurrence of osteogenesis imperfecta type VI and cystinosis
American Journal of Medical Genetics, Part A
Tucker, T. and Nelson, T. and Sirrs, S. and Roughley, P. and Glorieux, F.H. and Moffatt, P. and Schlade-Bartusiak, K. and Brown, L. and Rauch, F.
DOI: 10.1002/ajmg.a.35319
2012Intra-familial variable expression of a recurrent 16p13.11 deletion: severe phenotype associated with a second genomic event
European Journal of Human Genetics
Schlade-Bartusiak K., Van Allen M., Brown L., Eydoux P.: Intra-familial variable expression of a recurrent 16p13.11 deletion: severe phenotype associated with a second genomic event. Eur J Hum Genet 2011; 19 Suppl. 2: 130.
2011Wilson disease: DNA and the diagnostic challenge
Hepatology
DW Cox, A Wilson, G Macintyre, K Schlade-Bartusiak. Wilson disease: DNA and the diagnostic challenge. Hepatology 2010;52 Suppl S1: 320A.
2010A minigene approach for analysis of ATP7B splice variants in patients with Wilson disease
Biochimie
Wilson, A.M.E. and Schlade-Bartusiak, K. and Tison, J.-L. and Macintyre, G. and Cox, D.W.
DOI: 10.1016/j.biochi.2009.06.008
2009Paternal uniparental isodisomy for chromosome 14 in a child with normal karyotype, resulting from malsegregation of maternal Robertsonian translocation
European Journal of Human Genetics
Potok O., Schlade-Bartusiak K., Perrier R., Chernos J., Parboosingh J., Shetty S., Lauzon J. Paternal uniparental isodisomy for chromosome 14 in a child with normal karyotype, resulting from malsegregation of maternal Robertsonian translocation. Eur J Hum Genet 2009; 17 Suppl. 2: 133
2009A child with terminal 14q deletion syndrome: Consideration of genotype-phenotype correlations
American Journal of Medical Genetics, Part A
Schlade-Bartusiak, K. and Ardinger, H. and Cox, D.W.
DOI: 10.1002/ajmg.a.32752
2009Array CGH analysis of 4q terminal deletion diagnosed in a girl with mild dysmorphic features, developmental delay and no major congenital anomalies
European Journal of Human Genetics
Schlade-Bartusiak K., Innes AM., Chan M., Anderson M., Chernos J. Array CGH analysis of 4q terminal deletion diagnosed in a girl with mild dysmorphic features, developmental delay and no major congenital anomalies. Eur J Hum Genet 2009; 17 Suppl. 2: 137.
2009A child with deletion (14)(q24.3q32.13) and auditory neuropathy
American Journal of Medical Genetics, Part A
Schlade-Bartusiak, K. and Macintyre, G. and Zunich, J. and Cox, D.W.
DOI: 10.1002/ajmg.a.32064
2008Polymorphism in nucleotide excision repair gene XPC correlates with bleomycin-induced chromosomal aberrations
Environmental and Molecular Mutagenesis
Laczmanska, I. and Gil, J. and Karpinski, P. and Stembalska, A. and Trusewicz, A. and Pesz, K. and Ramsey, D. and Schlade-Bartusiak, K. and Blin, N. and Sasiadek, M.M.
DOI: 10.1002/em.20333
2007Recombinant chromosome 4 resulting from a maternal pericentric inversion in two sisters presenting consistent dysmorphic features
European Journal of Pediatrics
Stembalska, A. and Laczmanska, I. and Schlade-Bartusiak, K. and Czemarmazowicz, H. and Murawski, M. and Sasiadek, M.
DOI: 10.1007/s00431-006-0214-0
2007Cytogenetic and molecular cytogenetic characterization of the stable ovarian carcinoma cell line (OvBH-1)
Cancer Genetics and Cytogenetics
Schlade-Bartusiak, K. and Sasiadek, M.M. and Bar, J.K. and Urbschat, S. and Blin, N. and Montenarh, M. and Har?ozi?ska-Szmyrka, A.
DOI: 10.1016/j.cancergencyto.2005.04.011
2006The results of cytogenetic and molecular genetic examinations in 35 couples with primary sterility
Wiadomosci Lekarskie
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)
2006Influence of polymorphisms in xenobiotic-metabolizing genes and DNA-repair genes on diepoxybutane-induced SCE frequency
Environmental and Molecular Mutagenesis
Laczmanska, I. and Gil, J. and Karpinski, P. and Stembalska, A. and Kozlowska, J. and Busza, H. and Trusewicz, A. and Pesz, K. and Ramsey, D. and Schlade-Bartusiak, K. and Blin, N. and Sasiadek, M.M.
DOI: 10.1002/em.20253
2006Significant involvement of chromosome 13q deletions in progression of larynx cancer, detected by comparative genomic hybridization.
Journal of applied genetics
PubMed: 16278516
2005Significant involvement of chromosome 13q deletions in progression of larynx cancer, detected by comparative genomic hybridization
Journal of Applied Genetics
Schlade-Bartusiak, K. and Stembalska, A. and Ramsey, D.
2005FISH-mapping of telomeric 14q32 deletions: Search for the cause of seizures
American Journal of Medical Genetics
Schlade-Bartusiak, K. and Costa, T. and Summers, A.M. and Nowaczyk, M.J.M. and Cox, D.W.
DOI: 10.1002/ajmg.a.30942
2005[Individual sensitivity to the mutagenic agents in patients with larynx cancer].
Otolaryngologia polska = The Polish otolaryngology
PubMed: 15603383
2004Individual sensitivity to the mutagenic agents in patients with larynx cancer,Ocena wrazliwosci pacjentów z rakiem krtani na czynniki mutagenne.
Otolaryngologia polska. The Polish otolaryngology
Zych, M. and Stembalska-Koz?owska, A. and Schlade-Bartusiak, K. and Krecicki, T. and Sasiadek, M.
2004Influence of GSTT1, mEH, CYP2E1 and RAD51 polymorphisms on diepoxybutane-induced SCE frequency in cultured human lymphocytes
Mutation Research - Genetic Toxicology and Environmental Mutagenesis
Schlade-Bartusiak, K. and Rozik, K. and Laczmanska, I. and Ramsey, D. and Sasiadek, M.
DOI: 10.1016/j.mrgentox.2003.11.007
2004Microsatellite instability and loss of heterozygosity
Advances in Cell Biology
Stembalska-Kozlowska A., Smigiel R., Schlade-Bartusiak K., Dus D., Sasiadek M.: Genetic instability in cancer. II. Microsatellite instability and loss of heterozygosity. Adv. Cell Biology 2003, 30:635-646. (review, Polish)
2003Genetic instability in cancer. I. Chromosomal instability in cancer. Adv. Cell Biology
Advances in Cell Biology
Sasiadek M., Schlade-Bartusiak K., Stembalska-Kozlowska A., Bielawska-Pohl A., Smigiel R., Dus D.: Genetic instability in cancer. I. Chromosomal instability in cancer. Adv. Cell Biology. 2003, 30:259-272. (review, Polish)
2003Opposite responses in two DNA repair capacity tests in lymphocytes of head and neck cancer patients.
Journal of applied genetics
PubMed: 12441637
2002GSTT1 and GSTM1 polymorphism in patients with the carcinoma laryngis
Advances in Clinical and Experimental Medicine
Schlade-Bartusiak, K. and Zych, M. and Kr?cicki, T. and Sa?siadek, M.
2002Opposite responses in two DNA repair capacity tests in lymphocytes of head and neck cancer patients
Journal of Applied Genetics
Sa?siadek, M. and Schlade-Bartusiak, K. and Zych, M. and Noga, L. and Czemarmazowicz, H.
2002Analysis of adaptive response to bleomycin and mitomycin C
Mutation Research - Genetic Toxicology and Environmental Mutagenesis
Schlade-Bartusiak, K. and Stembalska-Kozlowska, A. and Bernady, M. and Kudyba, M. and Sasiadek, M.
DOI: 10.1016/S1383-5718(01)00288-1
2001Bleomycin-induced chromosome aberrations in head and neck cancer patients analyzed by classical cytogenetics and FISH
Cancer Letters
Zych, M. and Schlade-Bartusiak, K. and Chorostkowska, A. and Stembalska, A. and Krêcicki, T. and Sasiadek, M.
DOI: 10.1016/S0304-3835(99)00411-5
2000Trisomy 8 in a child with Down syndrome
Advances in Neonatology
Stembalska-Kozlowska A., Schlade-Bartusiak K., Sasiadek M.: Trisomy 8 in a child with Down syndrome. Adv. Neonatology. 2000, 1:344-346. (Polish)
2000Glutathione S-transferase GSTM1 and GSTT1 genetic polymorphism in the population of Lower Silesia
Advances in Clinical and Experimental Medicine
Schlade-Bartusiak fK., Bloch T., Sasiadek M., Dobosz T., Morawski A.: Glutathione S-transferase GSTM1 and GSTT1 genetic polymorphism in the population of Lower Silesia. Adv. Clin. Exp. Med. 2000, 30, 635-646. (Polish)
20008q22-qter duplication in a child with multiple congenital malformations: case report.
Medical science monitor : international medical journal of experimental and clinical research
PubMed: 11208302
2000The influence of GSTM1 and GSTT1 genotypes on the induction of sister chromatid exchanges and chromosome aberrations by 1,2:3,4-diepoxybutane
Mutation Research - Genetic Toxicology and Environmental Mutagenesis
Schlade-Bartusiak, K. and Sasiadek, M. and Kozlowska, J.
DOI: 10.1016/S1383-5718(99)00213-2
20008q22-->qter duplication in a child with multiple congenital malformations: case report.
Medical science monitor : international medical journal of experimental and clinical research
PubMed: 11208302
2000Classical and molecular cytogenetics in analysis of diepoxybutane-induced chromosome aberrations
Mutation Research/Genetic Toxicology and Environmental Mutagenesis
Maria Sasiadek and Kamilla Schlade and Halina Busza and Halina Czemarmazowicz and Agnieszka Stembalska
DOI: 10.1016/s1383-5718(98)00131-4
11/1998Chromosome instability in head and neck cancer patients
Oncology Reports
T Krecicki and K Schlade and N Blin and M Sasiadek
DOI: 10.3892/or.4.6.1383
11/1997
Congratulations to the winners of the Nobel Prize in Physiology or Medicine 2025
The Nobel Prize in Physiology or Medicine 2025 was awarded to Dr. Mary E. Brunkow, Dr. Fred Ramsdell, and Dr. Shimon Sakaguchi for their discoveries concerning peripheral immune tolerance. BCCHR's Dr. Megan Levings reflects on the significance of this area of research and how these immune cells could develop treatments for numerous diseases such as type 1 diabetes, multiple sclerosis, organ rejection, and more.
