Avdelningen för klinisk genetik

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  1. Artikel i vetenskaplig tidskrift
  2. Does uterine preservation affect survival outcomes of patients with stage I ovarian sex cord-stromal cell tumours? A multi-institutional study

    Masato Yoshihara, Satoshi Tamauchi, Shohei Iyoshi, Kazuhisa Kitami, Kaname Uno, Nobuhisa Yoshikawa, Yoshiki Ikeda, Michiyasu Kawai, Tetsuro Nagasaka & Hiroaki Kajiyama, 2020 nov 1, I : European Journal of Obstetrics and Gynecology and Reproductive Biology. 254, s. 52-56 5 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  3. Adherent Intestinal Cells From Atlantic Salmon Show Phagocytic Ability and Express Macrophage-Specific Genes

    Youngjin Park, Qirui Zhang, Geert F. Wiegertjes, Jorge M.O. Fernandes & Viswanath Kiron, 2020 okt 15, I : Frontiers in cell and developmental biology. 8, 580848.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  4. Secreted cystatins decrease proliferation and enhance apoptosis of human leukemic cells

    Samar Hunaiti, Hanna Wallin, Mia Eriksson, Marcus Järås & Magnus Abrahamson, 2020 okt 1, I : FEBS Open Bio. 10, 10, s. 2166-2181 16 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  5. Public support for healthcare-mediated disclosure of hereditary cancer risk information: Results from a population-based survey in Sweden

    Andreas Andersson, Carolina Hawranek, Anna Öfverholm, Hans Ehrencrona, Kalle Grill, Senada Hajdarevic, Beatrice Melin, Emma Tham, Barbro Numan Hellquist & Anna Rosén, 2020 sep 15, I : Hereditary Cancer in Clinical Practice. 18, 1, 18.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  6. Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

    Roddy Walsh, Najim Lahrouchi, Rafik Tadros, Florence Kyndt, Charlotte Glinge, Pieter G. Postema, Ahmad S. Amin, Eline A. Nannenberg, James S. Ware, Nicola Whiffin, Francesco Mazzarotto, Doris Škorić-Milosavljević, Christian Krijger, Elena Arbelo, Dominique Babuty, Hector Barajas-Martinez, Britt M. Beckmann, Stéphane Bézieau, J. Martijn Bos, Jeroen Breckpot & 31 andra, Oscar Campuzano, Silvia Castelletti, Candan Celen, Sebastian Clauss, Anniek Corveleyn, Lia Crotti, Federica Dagradi, Carlo de Asmundis, Isabelle Denjoy, Sven Dittmann, Patrick T. Ellinor, Cristina Gil Ortuño, Carla Giustetto, Jean Baptiste Gourraud, Daisuke Hazeki, Minoru Horie, Taisuke Ishikawa, Hideki Itoh, Yoshiaki Kaneko, Jørgen K. Kanters, Hiroki Kimoto, Maria Christina Kotta, Ingrid P.C. Krapels, Masahiko Kurabayashi, Julieta Lazarte, Antoine Leenhardt, Bart L. Loeys, Catarina Lundin, Takeru Makiyama, Pyotr G. Platonov & Nantes Referral Center for inherited cardiac arrhythmia Nantes Referral Center for inherited cardiac arrhythmia, 2020 sep 7, I : Genetics in Medicine.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  7. BL1391: an established cell line from a human malignant peripheral nerve sheath tumor with unique genomic features

    Doron Tolomeo, Antonio Agostini, Gemma Macchia, Alberto L’Abbate, Marco Severgnini, Ingrid Cifola, Maria Antonia Frassanito, Vito Racanelli, Antonio Giovanni Solimando, Felix Haglund, Fredrik Mertens & Clelia Tiziana Storlazzi, 2020 aug 27, I : Human Cell.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  8. CRISPR-terapi visar potential – möjligheter och utmaningar

    Marcus Järås, 2020 aug 11, I : Lakartidningen. 117

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  9. A gene expression-based single sample predictor of lung adenocarcinoma molecular subtype and prognosis

    Helena Liljedahl, Anna Karlsson, Gudrun N. Oskarsdottir, Annette Salomonsson, Hans Brunnström, Gigja Erlingsdottir, Mats Jönsson, Sofi Isaksson, Elsa Arbajian, Cristian Ortiz-Villalón, Aziz Hussein, Bengt Bergman, Anders Vikström, Nastaran Monsef, Eva Branden, Hirsh Koyi, Luigi de Petris, Annika Patthey, Annelie F. Behndig, Mikael Johansson & 2 andra, Maria Planck & Johan Staaf, 2020 aug 3, I : International Journal of Cancer.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  10. Methylation patterns and chromatin accessibility in neuroendocrine lung cancer

    Elsa Arbajian, Mattias Aine, Anna Karlsson, Johan Vallon-Christersson, Hans Brunnström, Josef Davidsson, Sofie Mohlin, Maria Planck & Johan Staaf, 2020 aug 1, I : Cancers. 12, 8, s. 1-17 17 s., 2003.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  11. A dynamic mutational landscape associated with an inter-regionally diverse immune response in malignant rhabdoid tumour

    Hiroaki Yasui, Anders Valind, Jenny Karlsson, Christina Pietras, Caroline Jansson, Joakim Wille, Patrik Romerius, Torbjörn Backman & David Gisselsson, 2020 jun 16, I : Journal of Pathology. e5490.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  12. CXCR4 Signaling Has a CXCL12-Independent Essential Role in Murine MLL-AF9-Driven Acute Myeloid Leukemia

    Ramprasad Ramakrishnan, Pablo Peña-Martínez, Puneet Agarwal, Maria Rodriguez-Zabala, Marion Chapellier, Carl Högberg, Mia Eriksson, David Yudovich, Mansi Shah, Mats Ehinger, Björn Nilsson, Jonas Larsson, Anna Hagström-Andersson, Benjamin L. Ebert, Ravi Bhatia & Marcus Järås, 2020 maj 26, I : Cell Reports. 31, 8, 107684.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  13. 13q12.2 deletions in acute lymphoblastic leukemia lead to upregulation of FLT3 through enhancer hijacking

    Minjun Yang, Setareh Safavi, Eleanor L Woodward, Nicolas Duployez, Linda Olsson-arvidsson, Jonas Ungerbäck, Mikael Sigvardsson, Marketa Zaliova, Jan Zuna, Thoas Fioretos, Bertil Johansson, Karolin H Nord & Kajsa Paulsson, 2020 maj 8, I : Blood.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  14. ABCB1 single-nucleotide variants and survival in patients with glioblastoma treated with radiotherapy concomitant with temozolomide

    Annika Malmström, Malgorzata Łysiak, Lisa Åkesson, Ingrid Jakobsen, Munila Mudaisi, Peter Milos, Martin Hallbeck, Victoria Fomichov, Helle Broholm, Kirsten Grunnet, Hans Skovgaard Poulsen, Charlotte Bratthäll, Michael Strandeus, Angeliki Papagiannopoulou, Marie Stenmark-Askmalm, Henrik Green & Peter Söderkvist, 2020 apr, I : Pharmacogenomics Journal. 20, 2, s. 213-219 7 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  15. Extensive clonal branching shapes the evolutionary history of high-risk pediatric cancers

    Natalie Andersson, Bjorn Bakker, Jenny Karlsson, Anders Valind, Linda Holmquist Mengelbier, Diana C J Spierings, Floris Foijer & David Gisselsson, 2020 apr, I : Cancer Research. 80, 7, s. 1512-1523 12 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  16. Global RNA expression and DNA methylation patterns in primary anaplastic thyroid cancer

    Naveen Ravi, Minjun Yang, Nektaria Mylona, Johan Wennerberg & Kajsa Paulsson, 2020 mar 13, I : Cancers. 12, 3, 680.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  17. Generation of an induced pluripotent stem cell line (CSC-32) from a patient with Parkinson's disease carrying a heterozygous variation p.A53T in the SNCA gene

    Carla Azevedo, Margarita Chumarina, Evgenija Serafimova, Stefano Goldwurm, Anna Collin, Laurent Roybon, Ekaterina Savchenko & Yuriy Pomeshchik, 2020 mar, I : Stem Cell Research. 43, 101694.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  18. Complement inhibitor factor H expressed by breast cancer cells differentiates CD14+ human monocytes into immunosuppressive macrophages

    Karolina I. Smolag, Christine M. Mueni, Karin Leandersson, Karin Jirström, Catharina Hagerling, Matthias Mörgelin, Paul N. Barlow, Myriam Martin & Anna M. Blom, 2020 mar, I : OncoImmunology. 9, 1, 1731135.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  19. CCL2 secreted from cancer-associated mesothelial cells promotes peritoneal metastasis of ovarian cancer cells through the P38-MAPK pathway

    Hiroaki Yasui, Hiroaki Kajiyama, Satoshi Tamauchi, Shiro Suzuki, Yang Peng, Nobuhisa Yoshikawa, Mai Sugiyama, Kae Nakamura & Fumitaka Kikkawa, 2020 feb, I : Clinical and Experimental Metastasis. 37, 1, s. 145-158 14 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  20. Genomic and transcriptomic features of dermatofibrosarcoma protuberans: Unusual chromosomal origin of the COL1A1-PDGFB fusion gene and synergistic effects of amplified regions in tumor development

    Jan Köster, Elsa Arbajian, Björn Viklund, Anders Isaksson, Jakob Hofvander, Felix Haglund, Henrik Bauer, Linda Magnusson, Nils Mandahl & Fredrik Mertens, 2020 feb, I : Cancer Genetics. 241, s. 34-41 8 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  21. The spectrum of fancm protein truncating variants in European breast cancer cases

    ENIGMA Consortium ENIGMA Consortium , GENESIS Study Collaborators GENESIS Study Collaborators, SWE-BRCA Group SWE-BRCA Group, Gisella Figlioli, Hans Ehrencrona & Paolo Peterlongo, 2020 feb, I : Cancers. 12, 2, 292.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  22. Substantial intrinsic variability in chemoradiosensitivity of newly established anaplastic thyroid cancer cell-lines

    Sigurdur Gretarsson, Alexander Nygren, Ann H Rosendahl, Nektaria Mylona, Elisabeth Kjellén, Yuesheng Jin, Kajsa Paulsson, Åke Borg, Eva Brun, Jan Tennvall, Anders Bergenfelz, Lennart Greiff, Johan Wennerberg & Lars Ekblad, 2020 jan 10, I : Acta Oto-Laryngologica.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  23. Deep sequencing of myxoinflammatory fibroblastic sarcoma

    Elsa Arbajian, Jakob Hofvander, Linda Magnusson & Fredrik Mertens, 2020 jan 3, I : Genes, Chromosomes and Cancer.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  24. Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome

    Yin Huai Chen, Giedre Grigelioniene, Phillip T. Newton, Jacob Gullander, Maria Elfving, Anna Hammarsjö, Dominyka Batkovskyte, Hessa S. Alsaif, Wesam I.Y. Kurdi, Firdous Abdulwahab, Veerabahu Shanmugasundaram, Luke Devey, Séverine Bacrot, Jana Brodszki, Celine Huber, Ben Hamel, David Gisselsson, Nikos Papadogiannakis, Katarina Jedrycha, Barbara Gürtl-Lackner & 7 andra, Andrei S. Chagin, Gen Nishimura, Dominik Aschenbrenner, Fowzan S. Alkuraya, Arian Laurence, Valérie Cormier-Daire & Holm H. Uhlig, 2020, I : The Journal of experimental medicine. 217, 3, e20191306.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  25. PHF1 fusions cause distinct gene expression and chromatin accessibility profiles in ossifying fibromyxoid tumors and mesenchymal cells

    Jakob Hofvander, Vickie Y. Jo, Christopher D.M. Fletcher, Florian Puls, Uta Flucke, Jenny Nilsson, Linda Magnusson & Fredrik Mertens, 2020, I : Modern Pathology.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  26. NTRK fusions in osteosarcoma are rare and non-functional events

    Baptiste Ameline, Karim H. Saba, Michal Kovac, Linda Magnusson, Olaf Witt, Stefan Bielack, Michaela Nathrath, Karolin H. Nord & Daniel Baumhoer, 2020, I : Journal of Pathology: Clinical Research.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  27. Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

    Vivek L. Patel, Åke Borg, Hans Ehrencrona, Timothy R. Rebbeck, EMBRACE Collaborators EMBRACE Collaborators & GEMO Study Collaborators GEMO Study Collaborators, 2020, I : Cancer Research. 80, 3, s. 624-638 15 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  28. Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke

    Andreea Ilinca, Nicolas Martinez-Majander, Sofie Samuelsson, Paul Piccinelli, Katarina Truvé, John Cole, Steven Kittner, Maria Soller, Ulf Kristoffersson, Turgut Tatlisumak, Andreas Puschmann, Jukka Putaala & Arne Lindgren, 2020, I : Stroke. 51, 4, s. 1056-1063 8 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  29. Genomic arrays identify high-risk chronic lymphocytic leukemia with genomic complexity: A multi-center study

    Alexander C. Leeksma, Panagiotis Baliakas, Theodoros Moysiadis, Anna Puiggros, Karla Plevova, Anne Marie van der Kevie-Kersemaekers, Hidde Posthuma, Ana E. Rodriguez-Vicente, Anh Nhi Tran, Gisela Barbany, Larry Mansouri, Rebeqa Gunnarsson, Helen Parker, Eva van den Berg, Mar Bellido, Zadie Davis, Meaghan Wall, Ilaria Scarpelli, Anders Österborg, Lotta Hansson & 18 andra, Marie Jarosova, Paolo Ghia, Pino Poddighe, Blanca Espinet, Sarka Pospisilova, Constantine Tam, Loïc Ysebaert, Florence Nguyen-Khac, David Oscier, Claudia Haferlach, Jacqueline Schoumans, Marian Stevens-Kroef, Eric Eldering, Kostas Stamatopoulos, Richard Rosenquist, Jonathan C. Strefford, Clemens Mellink & Arnon P. Kater, 2020, I : Haematologica. 105, 5

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  30. LGR5 in breast cancer and ductal carcinoma in situ: a diagnostic and prognostic biomarker and a therapeutic target

    Catharina Hagerling, Mark Owyong, Vaishnavi Sitarama, Chih Yang Wang, Charlene Lin, Renske J.E. van den Bijgaart, Charlotte D. Koopman, Audrey Brenot, Ankitha Nanjaraj, Fredrik Wärnberg, Karin Jirström, Ophir D. Klein, Zena Werb & Vicki Plaks, 2020, I : BMC Cancer. 20, 1, 542.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  31. Loss of NF2 defines a genetic subgroup of non-FOS-rearranged osteoblastoma

    Karim H. Saba, Louise Cornmark, Jakob Hofvander, Linda Magnusson, Jenny Nilsson, Hilda van den Bos, Diana C.J. Spierings, Floris Foijer, Johan Staaf, Otte Brosjö, Vaiyapuri P. Sumathi, Suk Wai Lam, Karoly Szuhai, Judith V.M.G. Bovée, Michal Kovac, Daniel Baumhoer, Emelie Styring & Karolin H. Nord, 2020, I : Journal of Pathology: Clinical Research.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  32. Human iPSC-Derived Hippocampal Spheroids: An Innovative Tool for Stratifying Alzheimer Disease Patient-Specific Cellular Phenotypes and Developing Therapies

    Yuriy Pomeshchik, Oxana Klementieva, Jeovanis Gil, Isak Martinsson, Marita Grønning Hansen, Tessa de Vries, Anna Sancho-Balsells, Kaspar Russ, Ekaterina Savchenko, Anna Collin, Ana Rita Vaz, Silvia Bagnoli, Benedetta Nacmias, Claire Rampon, Sandro Sorbi, Dora Brites, György Marko-Varga, Zaal Kokaia, Melinda Rezeli, Gunnar K. Gouras & 1 andra, Laurent Roybon, 2020, I : Stem Cell Reports. 15, 1, s. 256-273 18 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  33. A high-content cytokine screen identifies myostatin propeptide as a positive regulator of primitive chronic myeloid leukemia cells

    Sofia von Palffy, Niklas Landberg, Carl Sandén, Dimitra Zacharaki, Mansi Shah, Naoto Nakamichi, Nils Hansen, Maria Askmyr, Henrik Lilljebjörn, Marianne Rissler, Christine Karlsson, Stefan Scheding, Johan Richter, Connie J. Eaves, Ravi Bhatia, Marcus Järås & Thoas Fioretos, 2020, I : Haematologica. 105, 8, s. 2095-2104 10 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  34. Recurrent Fusions Between YAP1 and KMT2A in Morphologically Distinct Neoplasms Within the Spectrum of Low-grade Fibromyxoid Sarcoma and Sclerosing Epithelioid Fibrosarcoma

    Florian Puls, Abbas Agaimy, Uta Flucke, Thomas Mentzel, Vaiyapuri P Sumathi, Marieke Ploegmakers, Robert Stoehr, Lars-Gunnar Kindblom, Magnus Hansson, Saskia Sydow, Elsa Arbajian & Fredrik Mertens, 2020, I : American Journal of Surgical Pathology. 44, 5, s. 594-606 13 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  35. Most gene fusions in cancer are stochastic events

    Bertil Johansson, Fredrik Mertens, Tommy Schyman, Jonas Björk, Nils Mandahl & Felix Mitelman, 2019 sep, I : Genes Chromosomes and Cancer. 58, 9, s. 607-611 5 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  36. PAX5 is part of a functional transcription factor network targeted in lymphoid leukemia

    Kazuki Okuyama, Tobias Strid, Jacob Kuruvilla, Rajesh Somasundaram, Susana Cristobal, Emma Smith, Mahadesh Prasad, Thoas Fioretos, Henrik Lilljebjörn, Shamit Soneji, Stefan Lang, Jonas Ungerbäck & Mikael Sigvardsson, 2019 aug 1, I : PLoS Genetics. 15, 8, e1008280.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  37. 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, Carola Hedberg-Oldfors, Anders Oldfors, Björn Kornhall, Catarina Lundin & Elisabeth Wittström, 2019 jul 2, I : Ophthalmic Genetics. 40, 3, s. 227–236 11 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  38. Gene fusion involving the insulin-like growth factor 1 receptor in an ALK-negative inflammatory myofibroblastic tumour

    Giuseppe Piarulli, Florian Puls, Bo Wängberg, Henrik Fagman, Magnus Hansson, Jenny Nilsson, Elsa Arbajian & Fredrik Mertens, 2019 jun, I : Histopathology. 74, 7, s. 1098-1102

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  39. Proteogenomics and Hi-C reveal transcriptional dysregulation in high hyperdiploid childhood acute lymphoblastic leukemia

    Minjun Yang, Mattias Vesterlund, Ioannis Siavelis, Larissa H. Moura-Castro, Anders Castor, Thoas Fioretos, Rozbeh Jafari, Henrik Lilljebjörn, Duncan T. Odom, Linda Olsson, Naveen Ravi, Eleanor L. Woodward, Louise Harewood, Janne Lehtiö & Kajsa Paulsson, 2019 apr 3, I : Nature Communications. 10, 1, 1519.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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