Overview

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

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.
Human genetics
DOI: 10.1007/s00439-016-1655-9
PubMed: 27071622
05/2016

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
Tracy Tucker and Michelle Steinraths and Tracey Oh and Tanya N. Nelson and Margot I. Van Allen and Lindsay Brown and Kamilla Schlade-Bartusiak
DOI: 10.1097/mcd.0000000000000108
04/2016

MG-117 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

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

Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture
Journal of Pediatric Endocrinology and Metabolism
Shira Harel and Ana S.A. Cohen and Khalid Hussain and Sarah E. Flanagan and Kamilla Schlade-Bartusiak and Millan Patel and Jaques Courtade and Jenny B.W. Li and Clara Van Karnebeek and Harley Kurata and Sian Ellard and Jean-Pierre Chanoine and William T. Gibson
DOI: 10.1515/jpem-2014-0265
01/2015

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
Isabel Filges and Steven Sparagana and Michael Sargent and Kathryn Selby and Kamilla Schlade-Bartusiak and Gregg T. Lueder and Amy Robichaux-Viehoever and Bradley L. Schlaggar and Joshua S. Shimony and Marwan Shinawi
DOI: 10.1002/ajmg.a.36605
05/2014

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis
Brain
Gaurav V. Harlalka and Anna Lehman and Barry Chioza and Emma L. Baple and Reza Maroofian and Harold Cross and Ajith Sreekantan-Nair and David A. Priestman and Saeed Al-Turki and Meriel E. McEntagart and Christos Proukakis and Louise Royle and Radoslaw P. Kozak and Laila Bastaki and Michael Patton and Karin Wagner and Roselyn Coblentz and Joy Price and Michelle Mezei and Kamilla Schlade-Bartusiak and Frances M. Platt and Matthew E. Hurles and Andrew H. Crosby
DOI: 10.1093/brain/awt270
10/2013

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
Kamilla Schlade-Bartusiak and Tracy Tucker and Holly Safavi and Janet Livingston and Margot I. van Allen and Patrice Eydoux and Linlea Armstrong
DOI: 10.1016/j.ejmg.2013.01.013
05/2013

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
Kamilla Schlade-Bartusiak and Lindsay Brown and Brenda Lomax and Hélène Bruyère and Tanya Gillan and Sara Hamilton and Barbara McGillivray and Patrice Eydoux
DOI: 10.1002/ajmg.a.35516
08/2012

Uniparental disomy: can SNP array data be used for diagnosis?
Genetics in Medicine
Tracy Tucker and Kamilla Schlade-Bartusiak and Patrice Eydoux and Tanya N. Nelson and Lindsay Brown
DOI: 10.1038/gim.2012.35
04/2012

A co-occurrence of osteogenesis imperfecta type VI and cystinosis
American Journal of Medical Genetics Part A
Tracy Tucker and Tanya Nelson and Sandra Sirrs and Peter Roughley and Francis H. Glorieux and Pierre Moffatt and Kamilla Schlade-Bartusiak and Lindsay Brown and Frank Rauch
DOI: 10.1002/ajmg.a.35319
04/2012

Intra-familial variable expression of a recurrent 16p13.11 deletion: severe phenotype associated with a second genomic event
European Journal of Human Genetics
2011

Wilson disease: DNA and the diagnostic challenge
Hepatology
2010

A minigene approach for analysis of ATP7B splice variants in patients with Wilson disease¿
Biochimie
Anna M.E. Wilson and Kamilla Schlade-Bartusiak and Jean-Luc Tison and Georgina Macintyre and Diane W. Cox
DOI: 10.1016/j.biochi.2009.06.008
10/2009

A child with terminal 14q deletion syndrome: Consideration of genotype-phenotype correlations
American Journal of Medical Genetics Part A
Kamilla Schlade-Bartusiak and Holly Ardinger and Diane W. Cox
DOI: 10.1002/ajmg.a.32752
04/2009

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
2009

Paternal uniparental isodisomy for chromosome 14 in a child with normal karyotype, resulting from malsegregation of maternal Robertsonian translocation
European Journal of Human Genetics
2009

A child with deletion (14)(q24.3q32.13) and auditory neuropathy
American Journal of Medical Genetics Part A
Kamilla Schlade-Bartusiak and Georgina Macintyre and Janice Zunich and Diane W. Cox
DOI: 10.1002/ajmg.a.32064
2007

Polymorphism in nucleotide excision repair geneXPC correlates with bleomycin-induced chromosomal aberrations
Environmental and Molecular Mutagenesis
Izabela Laczmanska and Justyna Gil and Pawel Karpinski and Agnieszka Stembalska and Alicja Trusewicz and Karolina Pesz and David Ramsey and Kamilla Schlade-Bartusiak and Nikolaus Blin and Maria Malgorzata Sasiadek
DOI: 10.1002/em.20333
2007

Recombinant chromosome 4 resulting from a maternal pericentric inversion in two sisters presenting consistent dysmorphic features
European Journal of Pediatrics
Agnieszka Stembalska and Izabela Laczmanska and Kamila Schlade-Bartusiak and Halina Czemarmazowicz and Marek Murawski and Maria Sasiadek
DOI: 10.1007/s00431-006-0214-0
09/2006

Cytogenetic and molecular cytogenetic characterization of the stable ovarian carcinoma cell line (OvBH-1)
Cancer Genetics and Cytogenetics
Kamila Schlade-Bartusiak and Maria M. Sasiadek and Julia K. Bar and Steffi Urbschat and Nikolaus Blin and Mathias Montenarh and Antonina Harlozinska-Szmyrka
DOI: 10.1016/j.cancergencyto.2005.04.011
01/2006

Influence of polymorphisms in xenobiotic-metabolizing genes and DNA-repair genes on diepoxybutane-induced SCE frequency
Environmental and Molecular Mutagenesis
Izabela Laczmanska and Justyna Gil and Pawel Karpinski and Agnieszka Stembalska and Joanna Kozlowska and Halina Busza and Alicja Trusewicz and Karolina Pesz and David Ramsey and Kamila Schlade-Bartusiak and Nikolaus Blin and Maria Malgorzata Sasiadek
DOI: 10.1002/em.20253
2006

The results of cytogenetic and molecular genetic examinations in 35 couples with primary sterility
Wiadomosci Lekarskie
2006

FISH-mapping of telomeric 14q32 deletions: Search for the cause of seizures
American Journal of Medical Genetics Part A
Kamilla Schlade-Bartusiak and Teresa Costa and Anne M. Summers and Malgorzata J.M. Nowaczyk and Diane W. Cox
DOI: 10.1002/ajmg.a.30942
2005

Significant involvement of chromosome 13q deletions in progression of larynx cancer, detected by comparative genomic hybridization.
Journal of applied genetics
PubMed: 16278516
2005

Influence of GSTT1, mEH, CYP2E1 and RAD51 polymorphisms on diepoxybutane-induced SCE frequency in cultured human lymphocytes
Mutation Research/Genetic Toxicology and Environmental Mutagenesis
Kamila Schlade-Bartusiak and Katarzyna Rozik and Izabela Laczmanska and David Ramsey and Maria Sasiadek
DOI: 10.1016/j.mrgentox.2003.11.007
03/2004

[Individual sensitivity to the mutagenic agents in patients with larynx cancer].
Otolaryngologia polska = The Polish otolaryngology
PubMed: 15603383
2004

Microsatellite instability and loss of heterozygosity
Advances in Cell Biology
2003

Genetic instability in cancer. I. Chromosomal instability in cancer. Adv. Cell Biology
Advances in Cell Biology
2003

Analysis of adaptive response to bleomycin and mitomycin C
Mutation Research/Genetic Toxicology and Environmental Mutagenesis
Kamila Schlade-Bartusiak and Agnieszka Stembalska-Kozlowska and Monika Bernady and Marta Kudyba and Maria Sasiadek
DOI: 10.1016/s1383-5718(01)00288-1
01/2002

Opposite responses in two DNA repair capacity tests in lymphocytes of head and neck cancer patients.
Journal of applied genetics
PubMed: 12441637
2002

GSTT1 and GSTM1 polymorphism in patients with the carcinoma laryngis
Advances in Clinical and Experimental Medicine
2002

Bleomycin-induced chromosome aberrations in head and neck cancer patients analyzed by classical cytogenetics and FISH
Cancer Letters
Monika Zych and Kamila Schlade-Bartusiak and Anna Chorostkowska and Agnieszka Stembalska and Tomasz Krêcicki and Maria Sasiadek
DOI: 10.1016/s0304-3835(99)00411-5
05/2000

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
Kamilla Schlade-Bartusiak and Maria Sasiadek and Joanna Kozlowska
DOI: 10.1016/s1383-5718(99)00213-2
02/2000

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
2000

Glutathione S-transferase GSTM1 and GSTT1 genetic polymorphism in the population of Lower Silesia
Advances in Clinical and Experimental Medicine
2000

Trisomy 8 in a child with Down syndrome
Advances in Neonatology
2000

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
2000

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