Avdelningen för klinisk genetik
Organisation: avdelning
- 2020
-
Farewell message from the Editor-in-Chief of Genes, Chromosomes & Cancer
Felix Mitelman, 2020, I : Genes Chromosomes and Cancer. 59, 1, s. 3-4 2 s.Forskningsoutput: Tidskriftsbidrag › Debate/Note/Editorial
- 2019
-
ABCB1 single-nucleotide variants and survival in patients with glioblastoma treated with radiotherapy concomitant with temozolomide
Malmström, A., Łysiak, M., Åkesson, L., Jakobsen, I., Mudaisi, M., Milos, P., Hallbeck, M., Fomichov, V., Broholm, H., Grunnet, K., Poulsen, H. S., Bratthäll, C., Strandeus, M., Papagiannopoulou, A., Stenmark-Askmalm, M., Green, H. & Söderkvist, P., 2019 okt 17, I : Pharmacogenomics Journal.Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
-
CCL2 secreted from cancer-associated mesothelial cells promotes peritoneal metastasis of ovarian cancer cells through the P38-MAPK pathway
Hiroaki Yasui, Kajiyama, H., Tamauchi, S., Suzuki, S., Peng, Y., Yoshikawa, N., Sugiyama, M., Nakamura, K. & Kikkawa, F., 2019 sep 21, I : Clinical and Experimental Metastasis.Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
-
Most gene fusions in cancer are stochastic events
Bertil Johansson, Fredrik Mertens, Schyman, T., Jonas Björk, Nils Mandahl & Felix Mitelman, 2019 sep, I : Genes Chromosomes and Cancer. 58, 9, s. 607-611 5 s.Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
PAX5 is part of a functional transcription factor network targeted in lymphoid leukemia
Okuyama, K., Tobias Strid, Kuruvilla, J., Somasundaram, R., Cristobal, S., Emma Smith, Prasad, M., Thoas Fioretos, Henrik Lilljebjörn, Shamit Soneji, Stefan Lang, Jonas Ungerbäck & Mikael Sigvardsson, 2019 aug 1, I : PLoS Genetics. 15, 8, e1008280.Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2 gene
Monika Meinert, Elisabet Englund, Hedberg-Oldfors, C., Oldfors, A., Kornhall, B., Lundin, C. & Wittström, E., 2019 jul 2, I : Ophthalmic Genetics. 40, 3, s. 227–236 11 s.Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
-
Identification of two abundant Aerococcus urinae cell wall-anchored proteins
Erik Senneby, Torgny Sunnerhagen, Hallström, B., Rolf Lood, Johan Malmström, Christofer Karlsson & Magnus Rasmussen, 2019 jun 24, I : International Journal of Medical Microbiology.Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
-
Genetic profiling of a chondroblastoma-like osteosarcoma/malignant phosphaturic mesenchymal tumor of bone reveals a homozygous deletion of CDKN2A, intragenic deletion of DMD, and a targetable FN1-FGFR1 gene fusion
Karim H Saba, Louise Cornmark, Rissler, M., Thoas Fioretos, Åström, K., Haglund, F., Rosenberg, A. E., Brosjö, O. & Karolin H Nord, 2019 maj 8, I : Genes, Chromosomes and Cancer. s. 1-6Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
Proteogenomics and Hi-C reveal transcriptional dysregulation in high hyperdiploid childhood acute lymphoblastic leukemia
Minjun Yang, Vesterlund, M., Siavelis, I., Moura-Castro, L. H., Anders Castor, Thoas Fioretos, Jafari, R., Henrik Lilljebjörn, Odom, D. T., Linda Olsson, Naveen Ravi, Eleanor L. Woodward, Harewood, L., Lehtiö, J. & Kajsa Paulsson, 2019 apr 3, I : Nature Communications. 10, 1, 1519.Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
-
Outcome of Children With Hypodiploid Acute Lymphoblastic Leukemia: A Retrospective Multinational Study
Kajsa Paulsson & Ponte di Legno Childhood ALL Working Group, 2019 apr 1, I : Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 37, 10, s. 770-779 10 s.Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
A novel human in vitro papillomavirus type 16 positive tonsil cancer cell line with high sensitivity to radiation and cisplatin
Ola Forslund, Sugiyama, N., Chengjun Wu, Naveen Ravi, Jin, Y., Swoboda, S., Andersson, F., Bzhalava, D., Hultin, E., Kajsa Paulsson, Dillner, J., Stefan Schwartz, Johan Wennerberg & Lars Ekblad, 2019 mar 25, I : BMC Cancer. 19, 1, 265.Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
Identification of targetable lesions in anaplastic thyroid cancer by genome profiling
Naveen Ravi, Minjun Yang, Sigurdur Gretarsson, Jansson, C., Mylona, N., Sydow, S. R., Eleanor L. Woodward, Lars Ekblad, Johan Wennerberg & Kajsa Paulsson, 2019 mar 22, I : Cancers. 11, 3, 402.Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
Clinicians’ use of breast cancer risk assessment tools according to their perceived importance of breast cancer risk factors: an international survey
Brédart, A., Kop, J. L., Antoniou, A. C., Cunningham, A. P., de Pauw, A., Tischkowitz, M., Hans Ehrencrona, Schmidt, M. K., Dolbeault, S., Rhiem, K., Easton, D. F., Devilee, P., Stoppa-Lyonnet, D. & Schmutlzer, R., 2019 jan, I : Journal of Community Genetics. 10, 1, s. 61-71Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
Genetic predisposition to B-cell acute lymphoblastic leukemia at 14q11.2 is mediated by a CEBPE promoter polymorphism
Studd, J. B., Minjun Yang, Li, Z., Vijayakrishnan, J., Lu, Y., Yeoh, A. E. J., Kajsa Paulsson & Houlston, R. S., 2019 jan, I : Leukemia. 33, 1, s. 1-14Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
The Iroquois homeobox proteins IRX3 and IRX5 have distinct roles in Wilms tumour development and human nephrogenesis
Linda Holmquist Mengelbier, Lindell-Munther, S., Hiroaki Yasui, Jansson, C., Esfandyari, J., Jenny Karlsson, Lau, K., Hui, C. C., Daniel Bexell, Hopyan, S. & David Gisselsson, 2019 jan, I : Journal of Pathology. 247, 1Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
-
Aberrant receptor tyrosine kinase signaling in lipofibromatosis: a clinicopathological and molecular genetic study of 20 cases
Al-Ibraheemi, A., Folpe, A. L., Perez-Atayde, A. R., Perry, K., Jakob Hofvander, Elsa Arbajian, Magnusson, L., Nilsson, J. & Fredrik Mertens, 2019, I : Modern Pathology. 32, 3, s. 423-434Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
Arrayed molecular barcoding identifies TNFSF13 as a positive regulator of acute myeloid leukemia-initiating cells
Marion Chapellier, Pablo Peña-Martínez, Ramprasad Ramakrishnan, Eriksson, M., Mehrnaz Safaee-Talkhoncheh, Christina Orsmark-Pietras, Henrik Lilljebjörn, Högberg, C., Anna Hagström-Andersson, Thoas Fioretos, Jonas Larsson & Marcus Järås, 2019, I : Haematologica. 104, 10, s. 2006-2016Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
A urinary extracellular vesicle microRNA biomarker discovery pipeline; from automated extracellular vesicle enrichment by acoustic trapping to microRNA sequencing
Anson Ku, Naveen Ravi, Minjun Yang, Mikael Evander, Thomas Laurell, Lilja, H. & Yvonne Ceder, 2019, I : PLoS ONE. 14, 5, e0217507.Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
-
Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition
Olkinuora, A., Nieminen, T. T., Mårtensson, E., Rohlin, A., Ristimäki, A., Koskenvuo, L., Lepistö, A., Samuel Gebre-Medhin, Nordling, M., Peltomäki, P. & Swedish Extended Genetic Analysis of Colorectal Neoplasia (SWEN) Study Group, 2019, I : Genetics in Medicine. 21, 8, s. 1868-1873Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
Cancer chromosome breakpoints cluster in gene-rich genomic regions
Felix Mitelman, Bertil Johansson, Fredrik Mertens, Schyman, T. & Nils Mandahl, 2019, I : Genes Chromosomes and Cancer. 58, 3, s. 149-154Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
-
Changes in the Prevalence of Embryologic Remnants in Umbilical Cord With Gestational Age
Emma Grottling & David Gisselsson, 2019, I : Pediatric and Developmental Pathology. 22, 4, s. 288-291Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
-
Clonal evolution through genetic bottlenecks and telomere attrition: Potential threats to in vitro data reproducibility
David Gisselsson, Lichtenzstejn, D., Kachko, P., Jenny Karlsson, Manor, E. & Mai, S., 2019, I : Genes Chromosomes and Cancer. 58, 7, s. 452-461Forskningsoutput: Tidskriftsbidrag › Översiktsartikel
FLT3 N676K drives acute myeloid leukemia in a xenograft model of KMT2A-MLLT3 leukemogenesis
Axel Hyrenius-Wittsten, Mattias Pilheden, Falqués-Costa, A., Eriksson, M., Sturesson, H., Schneider, P., Wander, P., Garcia-Ruiz, C., Liu, J., Helena Ågerstam, Anne Hultquist, Henrik Lilljebjörn, Stam, R. W., Marcus Järås & Anna K. Hagström-Andersson, 2019, I : Leukemia.Forskningsoutput: Tidskriftsbidrag › Letter
-
Gene fusion involving the insulin-like growth factor 1 receptor in an ALK-negative inflammatory myofibroblastic tumour
Piarulli, G., Puls, F., Wängberg, B., Fagman, H., Hansson, M., Nilsson, J., Elsa Arbajian & Fredrik Mertens, 2019, I : Histopathology. 74, 7, s. 1098-1102Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
Generation of an induced pluripotent stem cell line (CSC-46) from a patient with Parkinson's disease carrying a novel p.R301C mutation in the GBA gene
Nadja Gustavsson, Marote, A., Yuriy Pomeshchik, Kaspar Russ, Carla Azevedo, Margarita Chumarina, Goldwurm, S., Collin, A., Pinto, L., Salgado, A. J., Oxana Klementieva, Laurent Roybon & Ekaterina Savchenko, 2019, I : Stem Cell Research. 34, 101373.Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
Genetic Characterization and Identification of Novel Treatment Targets in Anaplastic Thyroid Carcinoma
Naveen Ravi, 2019, Lund: Lund University: Faculty of Medicine. 68 s.Forskningsoutput: Avhandling › Doktorsavhandling (sammanläggning)
-
Genetic testing and surveillance guidelines in hereditary pheochromocytoma and paraganglioma
Muth, A., Crona, J., Gimm, O., Elmgren, A., K. Filipsson, Stenmark Askmalm, M., Sandstedt, J., Tengvar, M. & Tham, E., 2019, I : Journal of Internal Medicine. 285, 2, s. 187-204Forskningsoutput: Tidskriftsbidrag › Översiktsartikel
Hereditary colorectal cancer diagnostics in southern Sweden: retrospective evaluation and future considerations with emphasis on Lynch syndrome
Henriksson, I., Henriksson, K., Hans Ehrencrona & Samuel Gebre-Medhin, 2019, I : Journal of Community Genetics. 10, 2, s. 259-266Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
-
Idiopathic ventricular fibrillation – Long term prognosis in relation to clinical findings and ECG patterns in a Swedish cohort
U. Chaudhry, P. G. Platonov, Rubulis, A., Bergfeldt, L., Jensen, S. M., Lundin, C. & R. Borgquist, 2019, I : Journal of Electrocardiology. 56, s. 46-51 6 s.Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
-
Immune effector monocyte–neutrophil cooperation induced by the primary tumor prevents metastatic progression of breast cancer
Catharina Hagerling, Gonzalez, H., Salari, K., Wang, C. Y., Lin, C., Robles, I., van Gogh, M., Dejmek, A., Karin Jirström & Werb, Z., 2019, I : Proceedings of the National Academy of Sciences of the United States of America. 116, 43, s. 21704-21714 11 s.Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
Parsons, M. T., Tudini, E., Li, H., Hahnen, E., Wappenschmidt, B., Feliubadaló, L., Aalfs, C. M., Agata, S., Aittomäki, K., Alducci, E., Alonso-Cerezo, M. C., Arnold, N., Auber, B., Austin, R., Azzollini, J., Balmaña, J., Barbieri, E., Bartram, C. R., Blanco, A., Blümcke, B. & 31 andra, , 2019, I : Human Mutation. s. 1557-1578Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
Massively Parallel Sequencing of Gene Fusion-Associated Sarcomas
Jakob Hofvander, 2019, Lund: Lund University: Faculty of Medicine. 49 s.Forskningsoutput: Avhandling › Doktorsavhandling (sammanläggning)
-
PRDM10 -rearranged Soft Tissue Tumor: A Clinicopathologic Study of 9 Cases
Puls, F., Pillay, N., Fagman, H., Palin-Masreliez, A., Amary, F., Hansson, M., Kindblom, L. G., McCulloch, T. A., Meligonis, G., Muc, R., Rissler, P., Sumathi, V. P., Tirabosco, R., Jakob Hofvander, Magnusson, L., Nilsson, J., Flanagan, A. M. & Fredrik Mertens, 2019, I : American Journal of Surgical Pathology. 43, 4, s. 504-513Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
-
Recombinant dermatan sulfate is a potent activator of heparin cofactor II-dependent inhibition of thrombin
Emil Tykesson, Maccarana, M., Thorsson, H., Liu, J., Anders Malmström, Ulf Ellervik & Gunilla Westergren-Thorsson, 2019, I : Glycobiology. 29, 6, s. 446-451Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
-
The WNT5A Agonist Foxy5 Reduces the Number of Colonic Cancer Stem Cells in a Xenograft Mouse Model of Human Colonic Cancer
Janina Osman, Bellamkonda, K., Liu, Q., Tommy Andersson & Anita Sjölander, 2019, I : Anticancer research. 39, 4, s. 1719-1728 10 s.Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
-
Undifferentiated pleomorphic sarcomas with PRDM10 fusions have a distinct gene expression profile
Jakob Hofvander, Puls, F., Pillay, N., Steele, C. D., Flanagan, A. M., Magnusson, L., Nilsson, J. & Fredrik Mertens, 2019, I : Journal of Pathology.Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
-
Whole-genome sequencing of triple-negative breast cancers in a population-based clinical study
Staaf, J., Glodzik, D., Bosch, A., Vallon-Christersson, J., Reuterswärd, C., Häkkinen, J., Degasperi, A., Amarante, T. D., Saal, L. H., Hegardt, C., Stobart, H., Ehinger, A., Larsson, C., Rydén, L., Loman, N., Malmberg, M., Kvist, A., Ehrencrona, H., Davies, H. R., Borg, Å. & 1 andra, , 2019, I : Nature Medicine. 25, s. 1526–1533Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
- 2018
De novo activating mutations drive clonal evolution and enhance clonal fitness in KMT2A-rearranged leukemia
Hyrenius-Wittsten, A., Pilheden, M., Sturesson, H., Hansson, J., Walsh, M. P., Song, G., Kazi, J. U., Liu, J., Ramakrishan, R., Garcia-Ruiz, C., Nance, S., Gupta, P., Zhang, J., Rönnstrand, L., Hultquist, A., Downing, J. R., Lindkvist-Petersson, K., Paulsson, K., Järås, M., Gruber, T. A. & 2 andra, , 2018 dec 1, I : Nature Communications. 9, 1, 1770.Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
Different patterns of clonal evolution among different sarcoma subtypes followed for up to 25 years
Jakob Hofvander, Viklund, B., Isaksson, A., Brosjö, O., Fredrik Vult von Steyern, Rissler, P., Nils Mandahl & Fredrik Mertens, 2018 dec 1, I : Nature Communications. 9, 1, 3662.Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
-
Montelukast, a CysLT1 receptor antagonist, reduces colon cancer stemness and tumor burden in a mouse xenograft model of human colon cancer
Bellamkonda, K., Shakti Ranjan Satapathy, Douglas, D., Chandrashekar, N., Selvanesan, B. C., Liu, M., Savari, S., Jonsson, G. & Anita Sjölander, 2018 nov 28, I : Cancer Letters. 437, s. 13-24 12 s.Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
-
Convergent evolution of 11p allelic loss in multifocal Wilms tumors arising in WT1 mutation carriers
Anders Valind, Wessman, S., Pal, N., Jenny Karlsson, Tord Jonson, Sandstedt, B. & David Gisselsson, 2018 nov 1, I : Pediatric Blood and Cancer. 65, 11, e27301.Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
-
Inferior survival for patients with malignant peripheral nerve sheath tumors defined by aberrant TP53
Høland, M., Kolberg, M., Danielsen, S. A., Bjerkehagen, B., Eilertsen, I. A., Hektoen, M., Nils Mandahl, van Den Berg, E., Smeland, S., Fredrik Mertens, Sundby Hall, K., Picci, P., Sveen, A. & Lothe, R. A., 2018 nov, I : Modern Pathology. 31, 11, s. 1694-1707Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
Whole-exome sequencing exploration of acquired uniparental disomies in B-cell precursor acute lymphoblastic leukemia
Kristina B. Lundin-Ström, Biloglav, A., Henrik Lilljebjörn, Rissler, M., Thoas Fioretos, Markus Hansson, Behrendtz, M., Anders Castor, Linda Olsson & Bertil Johansson, 2018 sep, I : Leukemia. 32, 9, s. 2058-2062Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
-
Gastrointestinal microbiota contributes to the development of murine transfusion-related acute lung injury
Kapur, R., Kim, M., Johan Rebetz, Hallström, B., Björkman, J. T., Takabe-French, A., Kim, N., Liu, J., Shanmugabhavananthan, S., Milosevic, S., McVey, M. J., Speck, E. R. & John W Semple, 2018 jul 10, I : Blood Advances. 2, 13, s. 1651-1663Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
-
Four evolutionary trajectories underlie genetic intratumoral variation in childhood cancer
Jenny Karlsson, Anders Valind, Linda Holmquist Mengelbier, Bredin, S., Louise Cornmark, Jansson, C., Wali, A., Johan Staaf, Viklund, B., Ingrid Øra, Anna Börjesson, Backman, T., Braekeveldt, N., Sandstedt, B., Pal, N., Isaksson, A., Lackner, B. G., Tord Jonson, Daniel Bexell & David Gisselsson, 2018 jul, I : Nature Genetics. 50, 7, s. 944-950Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
Germline mutations in BRCA1 and BRCA2 incidentally revealed in a biobank research study: experiences from re-contacting mutation carriers and relatives
Martin P. Nilsson, Emmertz, M., Ulf Kristoffersson, Åke Borg, Christer Larsson, Martin Rehn, Winter, C., Lao H. Saal, Brandberg, Y. & Niklas Loman, 2018 jul, I : Journal of Community Genetics. 9, 3, s. 201-208Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
-
Discontinuation of tyrosine kinase inhibitor therapy in chronic myeloid leukaemia (EURO-SKI): a prespecified interim analysis of a prospective, multicentre, non-randomised, trial
Saussele, S., Richter, J., Guilhot, J., Gruber, F. X., Hjorth-Hansen, H., Almeida, A., Janssen, J. J. W. M., Mayer, J., Koskenvesa, P., Panayiotidis, P., Olsson-Strömberg, U., Martinez-Lopez, J., Rousselot, P., Vestergaard, H., Ehrencrona, H., Kairisto, V., Machová Poláková, K., Müller, M. C., Mustjoki, S., Berger, M. G. & 6 andra, , 2018 jun, I : The Lancet Oncology. 19, 6, s. 747-757Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
-
Novel subgroups of adult-onset diabetes and their association with outcomes: A data-driven cluster analysis of six variables
Ahlqvist, E., Storm, P., Käräjämäki, A., Martinell, M., Dorkhan, M., Carlsson, A., Vikman, P., Prasad, R. B., Aly, D. M., Almgren, P., Wessman, Y., Shaat, N., Spégel, P., Mulder, H., Lindholm, E., Melander, O., Hansson, O., Malmqvist, U., Lernmark, Å., Lahti, K. & 4 andra, , 2018 maj, I : The Lancet Diabetes and Endocrinology. 6, 5, s. 361-369Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift