Jan Dumanski – Molekylär onkologi

Beyond tumors: uninvolved breast tissue of breast cancer patients with adverse prognoses is enriched for pathogenic PIK3CA and TP53 post-zygotic variants

Andreou, Maria; Chojnowska, Katarzyna; Filipowicz, Natalia; Horbacz, Monika et al.

Part of BMC Cancer, 2026

• DOI for Beyond tumors: uninvolved breast tissue of breast cancer patients with adverse prognoses is enriched for pathogenic PIK3CA and TP53 post-zygotic variants
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The effect of cold ischemia time on hypoxia, EMT, and apoptosis pathways in normal colon mucosa

Duzowska, Katarzyna; Opielka, Mikolaj; Drezek-Chyla, Kinga; Kostecka, Anna et al.

Part of PLOS ONE, 2026

• DOI for The effect of cold ischemia time on hypoxia, EMT, and apoptosis pathways in normal colon mucosa
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A denaturation-free protocol for in situ visualization of short nuclear DNA sequences using padlock probes with rolling-circle amplification

Ikebuchi, Ryoyo; Lu, Xi; Bouri, Dimitra; Svintytska, Valeriia et al.

Part of PLOS ONE, 2025

• DOI for A denaturation-free protocol for in situ visualization of short nuclear DNA sequences using padlock probes with rolling-circle amplification
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Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations

Horbacz, Monika; Koczkowska, Magdalena; Roclawski, Marek; Ceynowa, Marcin et al.

Part of Frontiers in Medicine, 2025

• DOI for Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations
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DNA methylation patterns contribute to changes of cellular differentiation pathways in leukocytes with LOY from patients with Alzheimers disease

Jakalski, Marcin; Bruhn-Olszewska, Bożena; Rychlicka-Buniowska, Edyta; Davies, Hanna et al.

Part of Cellular and Molecular Life Sciences (CMLS), 2025

• DOI for DNA methylation patterns contribute to changes of cellular differentiation pathways in leukocytes with LOY from patients with Alzheimers disease
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Loss of Y chromosome in Alzheimer's patients co-occurs with somatic mutations beyond CHIP drivers

Rychlicka-Buniowska, Edyta; Sarkisyan, Daniil; Horbacz, Monika; Bruhn-Olszewska, Bożena et al.

Part of Life Science Alliance, 2025

• DOI for Loss of Y chromosome in Alzheimer's patients co-occurs with somatic mutations beyond CHIP drivers
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The effects of loss of Y chromosome on male health

Bruhn-Olszewska, Bożena; Markljung, Ellen; Rychlicka-Buniowska, Edyta; Sarkisyan, Daniil et al.

Part of Nature reviews genetics, p. 320-335, 2025

• DOI for The effects of loss of Y chromosome on male health

Loss of chromosome Y in regulatory T cells

Mattisson, Jonas; Halvardson, Jonatan; Davies, Hanna; Bruhn-Olszewska, Bozena et al.

Part of BMC Genomics, 2024

• DOI for Loss of chromosome Y in regulatory T cells
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Loss of Y in regulatory T lymphocytes in the tumor micro-environment of primary colorectal cancers and liver metastases

Wójcik, Magdalena; Juhas, Ulana; Mohammadi, Elyas; Mattisson, Jonas et al.

Part of Scientific Reports, 2024

• DOI for Loss of Y in regulatory T lymphocytes in the tumor micro-environment of primary colorectal cancers and liver metastases
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Mass Spectrometry Proteomics Characterization of Plasma Biomarkers for Colorectal Cancer Associated With Inflammation

Urbiola-Salvador, Victor; Jablonska, Agnieszka; Miroszewska, Dominika; Kamysz, Weronika et al.

Part of Biomarker Insights, 2024

• DOI for Mass Spectrometry Proteomics Characterization of Plasma Biomarkers for Colorectal Cancer Associated With Inflammation
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Prelude to malignancy: A gene expression signature in normal mammary gland from breast cancer patients suggests pre-tumorous alterations and is associated with adverse outcomes

Andreou, Maria; Jąkalski, Marcin; Duzowska, Katarzyna; Filipowicz, Natalia et al.

Part of International Journal of Cancer, p. 1616-1628, 2024

• DOI for Prelude to malignancy: A gene expression signature in normal mammary gland from breast cancer patients suggests pre-tumorous alterations and is associated with adverse outcomes
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Tumor Predisposing Post-Zygotic Chromosomal Alterations in Bladder Cancer-Insights from Histologically Normal Urothelium

Stankowska, Wiktoria; Sarkisyan, Daniil; Bruhn-Olszewska, Bozena; Duzowska, Katarzyna et al.

Part of Cancers, 2024

• DOI for Tumor Predisposing Post-Zygotic Chromosomal Alterations in Bladder Cancer-Insights from Histologically Normal Urothelium
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Mosaic Loss of Chromosome Y Is Associated With Functional Outcome After Ischemic Stroke

Dorvall, Malin; Pedersen, Annie; Dumanski, Jan P.; Söderholm, Martin et al.

Part of Stroke, p. 2434-2437, 2023

• DOI for Mosaic Loss of Chromosome Y Is Associated With Functional Outcome After Ischemic Stroke
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Plasma protein changes reflect colorectal cancer development and associated inflammation

Urbiola-Salvador, Victor; Jablonska, Agnieszka; Miroszewska, Dominika; Huang, Qianru et al.

Part of Frontiers in Oncology, 2023

• DOI for Plasma protein changes reflect colorectal cancer development and associated inflammation
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Size matters: the impact of nucleus size on results from spatial transcriptomics

Mohammadi, Elyas; Chojnowska, Katarzyna; Bienkowski, Michal; Kostecka, Anna et al.

Part of Journal of Translational Medicine, 2023

• DOI for Size matters: the impact of nucleus size on results from spatial transcriptomics
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Comprehensive cancer-oriented biobanking resource of human samples for studies of post-zygotic genetic variation involved in cancer predisposition

Filipowicz, Natalia; Drezek, Kinga; Horbacz, Monika; Wojdak, Agata et al.

Part of PLOS ONE, 2022

• DOI for Comprehensive cancer-oriented biobanking resource of human samples for studies of post-zygotic genetic variation involved in cancer predisposition
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High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing

Kostecka, Anna; Nowikiewicz, Tomasz; Olszewski, Pawel; Koczkowska, Magdalena et al.

Part of npj Breast Cancer, 2022

• DOI for High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing
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Loss of Y and clonal hematopoiesis in blood: two sides of the same coin?

Ljungström, Viktor; Mattisson, Jonas; Halvardson, Jonatan; Pandzic, Tatjana et al.

Part of Leukemia, p. 889-891, 2022

• DOI for Loss of Y and clonal hematopoiesis in blood: two sides of the same coin?
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Loss of Y in leukocytes as a risk factor for critical COVID-19 in men

Bruhn-Olszewska, Bozena; Davies, Hanna; Sarkisyan, Daniil; Juhas, Ulana et al.

Part of Genome Medicine, 2022

• DOI for Loss of Y in leukocytes as a risk factor for critical COVID-19 in men
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Personalized health risk assessment based on single-cell RNA sequencing analysis of a male with 45, X/48, XYYY karyotype

Koczkowska, Magdalena; Jakalski, Marcin; Birkholz-Walerzak, Dorota; Kostecka, Anna et al.

Part of Scientific Reports, 2022

• DOI for Personalized health risk assessment based on single-cell RNA sequencing analysis of a male with 45, X/48, XYYY karyotype
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Immune cells lacking Y chromosome show dysregulation of autosomal gene expression

Dumanski, Jan P.; Halvardson, Jonatan; Davies, Hanna; Rychlicka-Buniowska, Edyta et al.

Part of Cellular and Molecular Life Sciences (CMLS), p. 4019-4033, 2021

• DOI for Immune cells lacking Y chromosome show dysregulation of autosomal gene expression
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Leukocytes with chromosome Y loss have reduced abundance of the cell surface immunoprotein CD99

Mattisson, Jonas; Danielsson, Marcus; Hammond, Maria; Davies, Hanna et al.

Part of Scientific Reports, 2021

• DOI for Leukocytes with chromosome Y loss have reduced abundance of the cell surface immunoprotein CD99
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Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins-Diagnostic implications

Rydzanicz, Malgorzata; Olszewski, Pawel; Kedra, Darek; Davies, Hanna et al.

Part of Molecular Genetics & Genomic Medicine, 2021

• DOI for Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins-Diagnostic implications
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Longitudinal changes in the frequency of mosaic chromosome Y loss in peripheral blood cells of aging men varies profoundly between individuals

Danielsson, Marcus; Halvardson, Jonatan; Davies, Hanna; Moghadam, Behrooz Torabi et al.

Part of European Journal of Human Genetics, p. 349-357, 2020

• DOI for Longitudinal changes in the frequency of mosaic chromosome Y loss in peripheral blood cells of aging men varies profoundly between individuals
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The Level Of Myeloid Derived-Suppressor Cells In Peripheral Blood Of Patients With Prostate Cancer After Various Types Of Therapy

Sieminska, Izabela; Rychlicka, Edyta; Jaszczynski, Janusz; Palaczynski, Mikolaj et al.

Part of Polish Journal of Pathology, p. 46-54, 2020

• DOI for The Level Of Myeloid Derived-Suppressor Cells In Peripheral Blood Of Patients With Prostate Cancer After Various Types Of Therapy
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Genetic predisposition to mosaic Y chromosome loss in blood

Thompson, Deborah J; Genovese, Giulio; Halvardson, Jonatan; Ulirsch, Jacob C et al.

Part of Nature, p. 652-657, 2019

• DOI for Genetic predisposition to mosaic Y chromosome loss in blood

Mosaic loss of chromosome Y in leukocytes matters

Forsberg, Lars A.; Halvardson, Jonatan; Rychlicka-Buniowska, Edyta; Danielsson, Marcus et al.

Part of Nature Genetics, p. 4-7, 2019

• DOI for Mosaic loss of chromosome Y in leukocytes matters

PRR14L mutations are associated with chromosome 22 acquired uniparental disomy, age-related clonal hematopoiesis and myeloid neoplasia

Chase, Andrew; Pellagatti, Andrea; Singh, Shalini; Score, Joannah et al.

Part of Leukemia, p. 1184-1194, 2019

• DOI for PRR14L mutations are associated with chromosome 22 acquired uniparental disomy, age-related clonal hematopoiesis and myeloid neoplasia

A MUTYH germline mutation is associated with small intestinal neuroendocrine tumors

Dumanski, Jan P.; Rasi, Chiara; Björklund, Peyman; Davies, Hanna et al.

Part of Endocrine-Related Cancer, p. 427-443, 2017

• DOI for A MUTYH germline mutation is associated with small intestinal neuroendocrine tumors
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Loss of Chromosome Y in Leukocytes and Major Cardiovascular Events

Dumanski, Jan P.; Sundström, Johan; Forsberg, Lars A.

Part of Circulation, 2017

• DOI for Loss of Chromosome Y in Leukocytes and Major Cardiovascular Events

Mosaicism in health and disease — clones picking up speed

Forsberg, Lars A.; Gisselsson, David; Dumanski, Jan P.

Part of Nature reviews genetics, p. 128-142, 2017

• DOI for Mosaicism in health and disease — clones picking up speed

Biobanking multifocal breast carcinomas: sample adequacy with regard to histology and DNA content

Pekar, Gyula; Davies, Hanna; Lukacs, Agnes P; Forsberg, Lars et al.

Part of Histopathology, p. 411-421, 2016

• DOI for Biobanking multifocal breast carcinomas: sample adequacy with regard to histology and DNA content

Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease

Dumanski, Jan P.; Lambert, Jean-Charles; Rasi, Chiara; Giedraitis, Vilmantas et al.

Part of American Journal of Human Genetics, p. 1208-1219, 2016

• DOI for Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease
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Concurrent DNA Copy-Number Alterations and Mutations in Genes Related to Maintenance of Genome Stability in Uninvolved Mammary Glandular Tissue from Breast Cancer Patients

Ronowicz, Anna; Janaszak-Jasiecka, Anna; Skokowski, Jaroslaw; Madanecki, Piotr et al.

Part of Human Mutation, p. 1088-1099, 2015

• DOI for Concurrent DNA Copy-Number Alterations and Mutations in Genes Related to Maintenance of Genome Stability in Uninvolved Mammary Glandular Tissue from Breast Cancer Patients

Detection of leukemia-associated mutations in peripheral blood DNA of hematologically normal elderly individuals

Score, J.; Chase, A.; Forsberg, Lars; Feng, L. et al.

Part of Leukemia, p. 1600-1602, 2015

• DOI for Detection of leukemia-associated mutations in peripheral blood DNA of hematologically normal elderly individuals

Mutagenesis: smoking is associated with mosaic loss of chromosome Y

Dumanski, Jan P.; Rasi, Chiara; Lönn, Mikael; Davies, Hanna et al.

Part of Science, p. 81-83, 2015

• DOI for Mutagenesis: smoking is associated with mosaic loss of chromosome Y

Profound parental bias associated with chromosome 14 acquired uniparental disomy indicates targeting of an imprinted locus

Chase, A.; Leung, W.; Tapper, W.; Jones, A. V. et al.

Part of Leukemia, p. 2069-2074, 2015

• DOI for Profound parental bias associated with chromosome 14 acquired uniparental disomy indicates targeting of an imprinted locus

Signatures of post-zygotic structural genetic aberrations in the cells of histologically normal breast tissue that can predispose to sporadic breast cancer

Forsberg, Lars A.; Rasi, Chiara; Pekar, Gyula; Davies, Hanna et al.

Part of Genome Research, p. 1521-1535, 2015

• DOI for Signatures of post-zygotic structural genetic aberrations in the cells of histologically normal breast tissue that can predispose to sporadic breast cancer
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Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer

Forsberg, Lars A.; Rasi, Chiara; Malmqvist, Niklas; Davies, Hanna et al.

Part of Nature Genetics, p. 624-628, 2014

• DOI for Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer

Age dependence of tumor genetics in unfavorable neuroblastoma: arrayCGH profiles of 34 consecutive cases, using a Swedish 25-year neuroblastoma cohort for validation

Cetinkaya, Cihan; Martinsson, Tommy; Sandgren, Johanna; Trager, Catarina et al.

Part of BMC Cancer, p. 231, 2013

• DOI for Age dependence of tumor genetics in unfavorable neuroblastoma: arrayCGH profiles of 34 consecutive cases, using a Swedish 25-year neuroblastoma cohort for validation
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Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime

Forsberg, Lars A.; Absher, Devin; Dumanski, Jan Piotr

Part of Journal of Medical Genetics, p. 1-10, 2013

• DOI for Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime

Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime (Reprinted from vol 50, pg 1-10, 2013)

Forsberg, Lars A.; Absher, Devin; Dumanski, Jan Piotr

Part of Postgraduate medical journal, p. 417-426, 2013

• DOI for Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime (Reprinted from vol 50, pg 1-10, 2013)
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Post-Zygotic and Inter-Individual Structural Genetic Variation in a Presumptive Enhancer Element of the Locus between the IL10Rβ and IFNAR1 Genes

Razzaghian, Hamid Reza; Forsberg, Lars Anders; Prakash, Kancherla Reddy; Przerada, Szymon et al.

Part of PLOS ONE, 2013

• DOI for Post-Zygotic and Inter-Individual Structural Genetic Variation in a Presumptive Enhancer Element of the Locus between the IL10Rβ and IFNAR1 Genes
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Age-related somatic structural changes in the nuclear genome of human blood cells

Forsberg, Lars A.; Rasi, Chiara; Razzaghian, Hamid R; Pakalapati, Geeta et al.

Part of American Journal of Human Genetics, p. 217-228, 2012

• DOI for Age-related somatic structural changes in the nuclear genome of human blood cells

Procoagulant activity in patients with sickle cell trait

Lawrie, Andrew S.; Pizzey, Arnold; Trompeter, Sara; Meiselman, Herbert et al.

Part of Blood Coagulation and Fibrinolysis, p. 268-270, 2012

• DOI for Procoagulant activity in patients with sickle cell trait

Common pathogenetic mechanism involving human chromosome 18 in familial and sporadic ileal carcinoid tumors

Cunningham, Janet L.; Díaz de Ståhl, Teresita; Sjöblom, Tobias; Westin, Gunnar et al.

Part of Genes, Chromosomes and Cancer, p. 82-94, 2011

• DOI for Common pathogenetic mechanism involving human chromosome 18 in familial and sporadic ileal carcinoid tumors

Focal amplifications are associated with high grade and recurrences in stage Ta bladder carcinoma

Nord, Helena; Segersten, Ulrika; Sandgren, Johanna; Wester, Kenneth et al.

Part of International Journal of Cancer, p. 1390-1402, 2010

• DOI for Focal amplifications are associated with high grade and recurrences in stage Ta bladder carcinoma

Frequent genetic differences between matched primary and metastatic breast cancer provide an approach to identification of biomarkers for disease progression

Poplawski, Andrzej B.; Jankowski, Michal; Erickson, Stephen W.; de Ståhl, Teresita Díaz et al.

Part of European Journal of Human Genetics, p. 560-568, 2010

• DOI for Frequent genetic differences between matched primary and metastatic breast cancer provide an approach to identification of biomarkers for disease progression

Integrative epigenomic and genomic analysis of malignant pheochromocytoma.

Sandgren, Johanna; Andersson, A; Rada-Iglesias, A; Enroth, S et al.

Part of Experimental and Molecular Medicine, p. 484-502, 2010

Integrative epigenomic and genomic analysis of malignant pheochromocytoma

Sandgren, Johanna; Andersson, Robin; Rada-Iglesias, Alvaro; Enroth, Stefan et al.

Part of Experimental and Molecular Medicine, p. 484-502, 2010

• DOI for Integrative epigenomic and genomic analysis of malignant pheochromocytoma

Recurrent genomic alterations in benign and malignant pheochromocytomas and paragangliomas revealed by whole-genome array comparative genomic hybridization analysis

Sandgren, Johanna; Diaz de Ståhl, Teresita; Andersson, Robin; Menzel, Uwe et al.

Part of Endocrine-Related Cancer, p. 561-579, 2010

• DOI for Recurrent genomic alterations in benign and malignant pheochromocytomas and paragangliomas revealed by whole-genome array comparative genomic hybridization analysis

Recurrent genomic alterations in benign and malignant pheochromocytomas and paragangliomas revealed by whole-genome array-CGH analysis.

Sandgren, Johanna; Diaz de Ståhl, T; Andersson, R; Menzel, U et al.

Part of Endocrine-Related Cancer, p. 561-579, 2010

Somatic Mosaicism for Chromosome X and Y Aneuploidies in Monozygotic Twins Heterozygous for Sickle Cell Disease Mutation

Razzaghian, Hamid Reza; Shahi, Mehdi Hayat; Forsberg, Lars A.; Diaz de Ståhl, Teresita et al.

Part of American Journal of Medical Genetics. Part A, p. 2595-2598, 2010

• DOI for Somatic Mosaicism for Chromosome X and Y Aneuploidies in Monozygotic Twins Heterozygous for Sickle Cell Disease Mutation

Characterization of novel and complex genomic aberrations in glioblastoma using a 32K BAC array

Nord, Helena; Hartmann, Christian; Andersson, Robin; Menzel, Uwe et al.

Part of Neuro-Oncology, p. 803-818, 2009

• DOI for Characterization of novel and complex genomic aberrations in glioblastoma using a 32K BAC array

Genome-wide high-resolution analysis of DNA copy number alterations in NF1-associated malignant peripheral nerve sheath tumors using 32K BAC array

Mantripragada, Kiran K; Diaz de Ståhl, Teresita; Patridge, Chris; Menzel, Uwe et al.

Part of Genes, Chromosomes and Cancer, p. 897-907, 2009

• DOI for Genome-wide high-resolution analysis of DNA copy number alterations in NF1-associated malignant peripheral nerve sheath tumors using 32K BAC array

Genome-wide microarray-based comparative genomic hybridization analysis of lymphoplasmacytic lymphomas reveals heterogeneous aberrations

Buckley, Patrick G.; Walsh, Sarah H.; Laurell, Anna; Sundström, Christer et al.

Part of Leukemia and Lymphoma, p. 1528-34, 2009

• DOI for Genome-wide microarray-based comparative genomic hybridization analysis of lymphoplasmacytic lymphomas reveals heterogeneous aberrations

Tissue-specific variation in DNA methylation levels along human chromosome 1

De Bustos, Cecilia; Ramos, Edward; Young, Janet M.; Tran, Robert K. et al.

Part of Epigenetics & Chromatin, p. 7, 2009

• DOI for Tissue-specific variation in DNA methylation levels along human chromosome 1

Autoantibodies to Glutathione S-transferase theta 1 in patients with primary sclerosing cholangitis and other autoimmune diseases

Ardesjö, Brita; Hansson, Caisa M.; Bruder, Carl E.G.; Rorsman, Fredrik et al.

Part of Journal of Autoimmunity, p. 273-282, 2008

• DOI for Autoantibodies to Glutathione S-transferase theta 1 in patients with primary sclerosing cholangitis and other autoimmune diseases

Distal 22q11.2 microduplication encompassing the BCR gene

Descartes, Maria; Franklin, Judy; de Ståhl, Teresita Diaz; Piotrowski, Arkadiusz et al.

Part of American journal of medical genetics. Part A, p. 3075-3081, 2008

• DOI for Distal 22q11.2 microduplication encompassing the BCR gene

Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles

Bruder, Carl E G; Piotrowski, Arkadiusz; Gijsbers, Antoinet A C J; Andersson, Robin et al.

Part of American Journal of Human Genetics, p. 763-71, 2008

• DOI for Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles

Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array

de Ståhl, Teresita Díaz; Sandgren, Johanna; Piotrowski, Arkadiusz; Nord, Helena et al.

Part of Human Mutation, p. 398-408, 2008

• DOI for Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array

Somatic mosaicism for copy number variation in differentiated human tissues

Piotrowski, Arkadiusz; Bruder, Carl E G; Andersson, Robin; de Ståhl, Teresita Diaz et al.

Part of Human Mutation, p. 1118-24, 2008

• DOI for Somatic mosaicism for copy number variation in differentiated human tissues

A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patients

Erickson, Robert P; de Ståhl, Teresita Díaz; Bruder, Carl E G; Dumanski, Jan P

Part of American Journal of Medical Genetics Part A, p. 3302-3308, 2007

• DOI for A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patients

A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene

Mikhail, Fady M.; Descartes, Maria; Piotrowski, Arkadiusz; Andersson, Robin et al.

Part of American journal of medical genetics. Part A, p. 2178-2184, 2007

• DOI for A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene

Comprehensive genetic and epigenetic analysis of sporadic meningioma for macro-mutations on 22q and micro-mutations within the NF2 locus

Hansson, Caisa M.; Buckley, Patrick; Grigelioniene, Giedre; Piotrowski, Arkadiusz et al.

Part of BMC Genomics, p. 16, 2007

• DOI for Comprehensive genetic and epigenetic analysis of sporadic meningioma for macro-mutations on 22q and micro-mutations within the NF2 locus

Detection of copy number changes at the NF1 locus with improved high-resolution array CGH

Shen, M. H.; Mantripragada, K.; Dumanski, Jan P.; Frayling, I. et al.

Part of Clinical Genetics, p. 238-244, 2007

• DOI for Detection of copy number changes at the NF1 locus with improved high-resolution array CGH

Overlapping phenotype of wolf-hirschhorn and beckwith-wiedemann syndromes in a girl with der(4)t(4; 1 1)(pter;pter)

Mikhail, Fady M.; Sathienkijkanchai, Achara; Robin, Nathaniel H.; Prucka, Sandra et al.

Part of American Journal of Medical Genetics, Part A, p. 1760-1766, 2007

• DOI for Overlapping phenotype of wolf-hirschhorn and beckwith-wiedemann syndromes in a girl with der(4)t(4; 1 1)(pter;pter)

Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation

Thuresson, Ann-Charlotte; Bondeson, Marie-Louise; Edeby, Christina; Ellis, P. et al.

Part of Cytogenetic and Genome Research, p. 1-7, 2007

• DOI for Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation

Analysis of copy number variation in normal human population within a region containing complex segmental duplications on 22q11 using high resolution array-CGH

De Bustos, Cecilia; de Stahl, Teresita Diaz; Piotrowski, Arkadiusz; Mantripragada, Kiran K et al.

Part of Genomics, p. 152-162, 2006

• DOI for Analysis of copy number variation in normal human population within a region containing complex segmental duplications on 22q11 using high resolution array-CGH

Array-CGH and multipoint FISH to decode complex chromosomal rearrangements

Darai-Ramqvist, Eva; Díaz de Ståhl, Teresita; Sandlund, Agneta; Mantripragada, Kiran et al.

Part of BMC Genomics, p. 330, 2006

• DOI for Array-CGH and multipoint FISH to decode complex chromosomal rearrangements

Chromosome 22 array-CGH profiling of breast cancer delimited minimal common regions of genomic imbalances and revealed frequent intra-tumoral genetic heterogeneity

Benetkiewicz, Magdalena; Piotrowski, Arkadiusz; Díaz de Ståhl, Teresita; Jankowski, Michal et al.

Part of International Journal of Oncology, p. 935-945, 2006

Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH

Mantripragada, Kiran K; Thuresson, Ann-Charlotte; Piotrowski, Arek; Diaz De Ståhl, Teresita et al.

Part of Journal of Medical Genetics, p. 28-38, 2006

• DOI for Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH

Comprehensive DNA copy number profiling of meningioma using a chromosome 1 tiling path microarray identifies novel candidate tumor suppressor loci

Buckley, Patrick; Jarbo, Caroline; Menzel, Uwe; Mathiesen, Tiit et al.

Part of Cancer Research, p. 2653-2661, 2005

• DOI for Comprehensive DNA copy number profiling of meningioma using a chromosome 1 tiling path microarray identifies novel candidate tumor suppressor loci

High-resolution gene copy number and expression profiling of human chromosome 22 in ovarian carcinomas

Benetkiewicz, Magdalena; Wang, Yun; Schaner, Marci; Wang, Pei et al.

Part of Genes, Chromosomes and Cancer, p. 228-237, 2005

• DOI for High-resolution gene copy number and expression profiling of human chromosome 22 in ovarian carcinomas

Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2

Buckley, Patrick G.; Mantripragada, Kiran K.; Di­az de Ståhl, Teresita; Piotrowski, Arkadiusz et al.

Part of Human Mutation, p. 540-9, 2005

• DOI for Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2

A full-coverage, high-resolution human chromosome 22 genomic microarrayfor clinical and research applications

Buckley, Patrick G; Mantripragada, Kiran K; Benetkiewicz, Magdalena; Tapia-Paez, Isabel et al.

Part of Human Molecular Genetics, p. 3221-3229, 2002

• DOI for A full-coverage, high-resolution human chromosome 22 genomic microarrayfor clinical and research applications