BCCHR Researchers Find a Researcher

Kamilla Schlade-Bartusiak

PhD, FCCMG

Investigator, BC Children's Hospital

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.

Academic Affiliations

Clinical Professor, Department of Pathology and Laboratory Medicine, Faculty of Medicine, University of British Columbia
Research Theme: Childhood Diseases
Research Group(s): Rare Diseases

Contact Information

(604) 875-2000 ext. 7512

ksbartusiak@cw.bc.ca

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

Long-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

Mosaic 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

An 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

Clinical 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

Incidental 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

Pathogenetics 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

Diagnostic 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 / 2015

Chromosome 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 / 2015

Alternating 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

Brain 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

Mutations 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

Independent 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

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)

American Journal of Medical Genetics, Part A

Schlade-Bartusiak, K. and Brown, L. and Lomax, B. and Bruyre, H. and Gillan, T. and Hamilton, S. and McGillivray, B. and Eydoux, P.

DOI: 10.1002/ajmg.a.35516

Uniparental 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

A 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

Intra-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.

Wilson 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.

A 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

Paternal 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

A 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

Array 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.

A 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

Polymorphism 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

Recombinant 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

Cytogenetic 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

The 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)

Influence 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

Significant involvement of chromosome 13q deletions in progression of larynx cancer, detected by comparative genomic hybridization.

Journal of applied genetics

PubMed: 16278516

Significant 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.

FISH-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

[Individual sensitivity to the mutagenic agents in patients with larynx cancer].

Otolaryngologia polska = The Polish otolaryngology

PubMed: 15603383

Individual sensitivity to the mutagenic agents in patients with larynx cancer,Ocena wrazliwosci pacjentw 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.

Influence 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

Microsatellite 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)

Genetic 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)

Opposite responses in two DNA repair capacity tests in lymphocytes of head and neck cancer patients.

Journal of applied genetics

PubMed: 12441637

GSTT1 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.

Opposite 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.

Analysis 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

Bleomycin-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 Krcicki, T. and Sasiadek, M.

DOI: 10.1016/S0304-3835(99)00411-5

Trisomy 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)

Glutathione 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)

8q22-qter duplication in a child with multiple congenital malformations: case report.

Medical science monitor : international medical journal of experimental and clinical research

PubMed: 11208302

The 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

8q22-->qter duplication in a child with multiple congenital malformations: case report.

Medical science monitor : international medical journal of experimental and clinical research

PubMed: 11208302

Classical 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 / 1998

Chromosome 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

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At BC Children’s, we are making discoveries that save lives and transform health care for children in our province and around the world. Our research portfolio includes basic, clinical, population, and public health research.

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Kamilla Schlade-Bartusiak

PhD, FCCMG

Investigator, BC Children's Hospital

Academic Affiliations

Contact Information

Publications

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Using long-read sequencing to detect and subtype a case with Temple syndrome

Long-read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia

Mosaic embryo transfer"first report of a live born with nonmosaic partial aneuploidy and uniparental disomy 15

An approach to rapid characterization of DMD copy number variants for prenatal risk assessment

Clinical and molecular characterization of an almost complete ring chromosome 4 in two sisters, with recurrence due to gonadal mosaicism

Incidental finding of paternal UPD15 in a child with a deletion of 11q21-q22.3, presenting with developmental delay, coloboma and characteristic dysmorphic features

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Diagnostic accuracy of chromosome microarray in children with epilepsy and neurological abnormalities of unknown aetiology

Chromosome microarray and non-coding DNA copy number variants " a case of alveolar capillary dysplasia at FOXF1 locus

Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: An unusual clinical picture

Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.

Independent post-zygotic breaks of a dicentric chromosome result in mosaicism for an inverted duplication deletion 9p and terminal deletion 9p

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)

Uniparental disomy: Can SNP array data be used for diagnosis?

A co-occurrence of osteogenesis imperfecta type VI and cystinosis

Intra-familial variable expression of a recurrent 16p13.11 deletion: severe phenotype associated with a second genomic event

Wilson disease: DNA and the diagnostic challenge

A minigene approach for analysis of ATP7B splice variants in patients with Wilson disease

Paternal uniparental isodisomy for chromosome 14 in a child with normal karyotype, resulting from malsegregation of maternal Robertsonian translocation

A child with terminal 14q deletion syndrome: Consideration of genotype-phenotype correlations

Array CGH analysis of 4q terminal deletion diagnosed in a girl with mild dysmorphic features, developmental delay and no major congenital anomalies

A child with deletion (14)(q24.3q32.13) and auditory neuropathy

Polymorphism in nucleotide excision repair gene XPC correlates with bleomycin-induced chromosomal aberrations

Recombinant chromosome 4 resulting from a maternal pericentric inversion in two sisters presenting consistent dysmorphic features

Cytogenetic and molecular cytogenetic characterization of the stable ovarian carcinoma cell line (OvBH-1)

The results of cytogenetic and molecular genetic examinations in 35 couples with primary sterility

Influence of polymorphisms in xenobiotic-metabolizing genes and DNA-repair genes on diepoxybutane-induced SCE frequency

Significant involvement of chromosome 13q deletions in progression of larynx cancer, detected by comparative genomic hybridization.

Significant involvement of chromosome 13q deletions in progression of larynx cancer, detected by comparative genomic hybridization

FISH-mapping of telomeric 14q32 deletions: Search for the cause of seizures

[Individual sensitivity to the mutagenic agents in patients with larynx cancer].

Individual sensitivity to the mutagenic agents in patients with larynx cancer,Ocena wrazliwosci pacjentw z rakiem krtani na czynniki mutagenne.

Influence of GSTT1, mEH, CYP2E1 and RAD51 polymorphisms on diepoxybutane-induced SCE frequency in cultured human lymphocytes

Microsatellite instability and loss of heterozygosity

Genetic instability in cancer. I. Chromosomal instability in cancer. Adv. Cell Biology

Opposite responses in two DNA repair capacity tests in lymphocytes of head and neck cancer patients.

GSTT1 and GSTM1 polymorphism in patients with the carcinoma laryngis

Opposite responses in two DNA repair capacity tests in lymphocytes of head and neck cancer patients

Analysis of adaptive response to bleomycin and mitomycin C

Bleomycin-induced chromosome aberrations in head and neck cancer patients analyzed by classical cytogenetics and FISH

Trisomy 8 in a child with Down syndrome

Glutathione S-transferase GSTM1 and GSTT1 genetic polymorphism in the population of Lower Silesia

8q22-qter duplication in a child with multiple congenital malformations: case report.

The influence of GSTM1 and GSTT1 genotypes on the induction of sister chromatid exchanges and chromosome aberrations by 1,2:3,4-diepoxybutane

8q22-->qter duplication in a child with multiple congenital malformations: case report.

Classical and molecular cytogenetics in analysis of diepoxybutane-induced chromosome aberrations

Chromosome instability in head and neck cancer patients

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