Avdelningen för klinisk genetik

Organisation: avdelning

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  1. 2020
  2. Genomic and Transcriptomic Analyses of Osteogenic Tumours of Bone

    Karim Saba, 2020 nov 20, Lund: Lund University, Faculty of Medicine. 67 s.

    Forskningsoutput: AvhandlingDoktorsavhandling (sammanläggning)

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. CRISPR-terapi visar potential – möjligheter och utmaningar

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

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  10. The Cellular Architectures of Hypospadias

    Ann Nozohoor Ekmark, Diane Grelaud, Emma Hansson, Henry Svensson, Einar Arnbjörnsson & David Gisselsson, 2020 aug 5, I : Pediatric and Developmental Pathology.

    Forskningsoutput: TidskriftsbidragLetter

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. Parental origin of monosomic chromosomes in near-haploid acute lymphoblastic leukemia

    Kristina B. Lundin-Ström, Kristoffer Ström, Andrea Biloglav, Gisela Barbany, Mikael Behrendtz, Anders Castor, Linda Olsson-Arvidsson & Bertil Johansson, 2020 maj 5, I : Blood Cancer Journal. 10, 5, 51.

    Forskningsoutput: TidskriftsbidragLetter

  17. SFPQ-ABL1-positive B-cell precursor acute lymphoblastic leukemias

    Andrea Biloglav, LINDA OLSSON, Johan Theander, Mikael Behrendtz, Anders Castor & Bertil Johansson, 2020 apr 19, I : Genes, Chromosomes and Cancer.

    Forskningsoutput: TidskriftsbidragLetter

  18. 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

  19. 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

  20. 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

  21. 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

  22. Frequent false-negative FIP1L1-PDGFRA FISH analyses of bone marrow samples from clonal eosinophilia at diagnosis

    Linda Olsson-Arvidsson, Anna Norberg, Helene Sjögren & Bertil Johansson, 2020 mar, I : British Journal of Haematology. 188, 5, s. e76-e79 4 s.

    Forskningsoutput: TidskriftsbidragLetter

  23. 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

  24. Whole-genome sequencing of triple negative breast cancers in a standard population-based clinical setting

    Johan Staaf, Dominik Glodzik, Ana Bosch Campos, Johan Vallon-Christersson, Christel Reuterswärd, Jari Häkkinen, Andrea Degasperi, Tauanne Dias Amarante, Lao Saal, Cecilia Hegardt, Hilary Stobart, Anna Ehinger, Christer Larsson, Lisa Ryden, Niklas Loman, Martin Malmberg, Anders Kvist, Hans Ehrencrona, Helen R. Davies, Åke Borg & 1 andra, Serena Nik-Zainal, 2020 feb 6, I : Breast Cancer Research and Treatment. 180, s. 531-532

    Forskningsoutput: TidskriftsbidragPublicerat konferensabstract

  25. 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

  26. 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

  27. 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

  28. 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

  29. 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

  30. 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

  31. 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

  32. 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

  33. Cell Surface Markers as Therapeutic Targets in Myeloid Leukemia

    Niklas Landberg, 2020, Lund: Lund University, Faculty of Medicine. 79 s.

    Forskningsoutput: AvhandlingDoktorsavhandling (sammanläggning)

  34. 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: TidskriftsbidragDebate/Note/Editorial

  35. Functional Screens Identify Vulnerabilities in Acute Leukemia

    Ramprasad Ramakrishnan, 2020, Lund: Lund University, Faculty of Medicine. 86 s.

    Forskningsoutput: AvhandlingDoktorsavhandling (sammanläggning)

  36. 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

  37. 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

  38. 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

  39. 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

  40. 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

  41. 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

  42. 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

  43. 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

  44. Why classical cytogenetics still matters in acute myeloid leukemia

    Vladimir Lazarevic & Bertil Johansson, 2020, I : Expert Review of Hematology. 13, 2, s. 95-97 3 s.

    Forskningsoutput: TidskriftsbidragDebate/Note/Editorial

  45. 2019
  46. Att inte debattera är inte ett alternativ

    Karin Broberg, Ingrid Dunér, Kristofer Hansson, Mats Hansson, Johan Jakobsson, Marcus Järås, Ulf Kristoffersson, Hindrik Mulder, Ana Nordberg, Anna Tunlid, Niklas Vareman & Karin E Wahlberg, 2019 dec 8, Svenska Dagbladet, Stockholm.

    Forskningsoutput: Bidrag till övrig tidskrift/dags- eller nyhetstidningDagstidnings-/nyhetsartikel

  47. Vi måste ta ställning till den nya gentekniken

    Karin Broberg, Ingrid Dunér, Kristofer Hansson, Mats Hansson, Johan Jakobsson, Marcus Järås, Ulf Kristoffersson, Hindrik Mulder, Ana Nordberg, Anna Tunlid, Niklas Vareman & Karin E Wahlberg, 2019 nov 24, Svenska Dagbladet, Stockholm 1 s.

    Forskningsoutput: Bidrag till övrig tidskrift/dags- eller nyhetstidningDagstidnings-/nyhetsartikel

  48. 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

  49. 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

  50. 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

  51. 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

  52. 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

  53. Outcome of Children With Hypodiploid Acute Lymphoblastic Leukemia: A Retrospective Multinational Study

    Kajsa Paulsson & Ponte di Legno Childhood ALL Working Group Ponte di Legno Childhood ALL Working Group, 2019 apr 1, I : Journal of Clinical Oncology. 37, 10, s. 770-779 10 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  54. A novel human in vitro papillomavirus type 16 positive tonsil cancer cell line with high sensitivity to radiation and cisplatin

    Ola Forslund, Natsuki Sugiyama, Chengjun Wu, Naveen Ravi, Yuesheng Jin, Sabine Swoboda, Fredrik Andersson, Davit Bzhalava, Emilie Hultin, Kajsa Paulsson, Joakim Dillner, Stefan Schwartz, Johan Wennerberg & Lars Ekblad, 2019 mar 25, I : BMC Cancer. 19, 1, 265.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  55. Identification of targetable lesions in anaplastic thyroid cancer by genome profiling

    Naveen Ravi, Minjun Yang, Sigurdur Gretarsson, Caroline Jansson, Nektaria Mylona, Saskia R. Sydow, Eleanor L. Woodward, Lars Ekblad, Johan Wennerberg & Kajsa Paulsson, 2019 mar 22, I : Cancers. 11, 3, 402.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  56. Clinicians’ use of breast cancer risk assessment tools according to their perceived importance of breast cancer risk factors: an international survey

    Anne Brédart, Jean Luc Kop, Antonis C. Antoniou, Alex P. Cunningham, Antoine de Pauw, Marc Tischkowitz, Hans Ehrencrona, Marjanka K. Schmidt, Sylvie Dolbeault, Kerstin Rhiem, Douglas F. Easton, Peter Devilee, Dominique Stoppa-Lyonnet & Rita Schmutlzer, 2019 jan, I : Journal of Community Genetics. 10, 1, s. 61-71

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  57. Genetic predisposition to B-cell acute lymphoblastic leukemia at 14q11.2 is mediated by a CEBPE promoter polymorphism

    James B. Studd, Minjun Yang, Zhenhua Li, Jayaram Vijayakrishnan, Yi Lu, Allen Eng Juh Yeoh, Kajsa Paulsson & Richard S. Houlston, 2019 jan, I : Leukemia. 33, 1, s. 1-14

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  58. The Iroquois homeobox proteins IRX3 and IRX5 have distinct roles in Wilms tumour development and human nephrogenesis

    Linda Holmquist Mengelbier, Simon Lindell-Munther, Hiroaki Yasui, Caroline Jansson, Javanshir Esfandyari, Jenny Karlsson, Kimberly Lau, Chi chung Hui, Daniel Bexell, Sevan Hopyan & David Gisselsson, 2019 jan, I : Journal of Pathology. 247, 1

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  59. Aberrant receptor tyrosine kinase signaling in lipofibromatosis: a clinicopathological and molecular genetic study of 20 cases

    Alyaa Al-Ibraheemi, Andrew L. Folpe, Antonio R. Perez-Atayde, Kyle Perry, Jakob Hofvander, Elsa Arbajian, Linda Magnusson, Jenny Nilsson & Fredrik Mertens, 2019, I : Modern Pathology. 32, 3, s. 423-434

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  60. A stroke gene panel for whole-exome sequencing

    Andreea Ilinca, Sofie Samuelsson, Paul Piccinelli, Maria Soller, Ulf Kristoffersson & Arne G. Lindgren, 2019, I : European Journal of Human Genetics. 27, 2, s. 317-324

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  61. Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition

    Alisa Olkinuora, Taina T. Nieminen, Emma Mårtensson, Anna Rohlin, Ari Ristimäki, Laura Koskenvuo, Anna Lepistö, Samuel Gebre-Medhin, Margareta Nordling, Päivi Peltomäki & Swedish Extended Genetic Analysis of Colorectal Neoplasia (SWEN) Study Group Swedish Extended Genetic Analysis of Colorectal Neoplasia (SWEN) Study Group, 2019, I : Genetics in Medicine. 21, 8, s. 1868-1873

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  62. Cancer chromosome breakpoints cluster in gene-rich genomic regions

    Felix Mitelman, Bertil Johansson, Fredrik Mertens, Tommy Schyman & Nils Mandahl, 2019, I : Genes Chromosomes and Cancer. 58, 3, s. 149-154

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  63. 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. 288-291

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  64. Clonal evolution through genetic bottlenecks and telomere attrition: Potential threats to in vitro data reproducibility

    David Gisselsson, Daniel Lichtenzstejn, Polina Kachko, Jenny Karlsson, Esther Manor & Sabine Mai, 2019, I : Genes Chromosomes and Cancer. 58, 7, s. 452-461

    Forskningsoutput: TidskriftsbidragÖversiktsartikel

  65. FLT3 N676K drives acute myeloid leukemia in a xenograft model of KMT2A-MLLT3 leukemogenesis

    Axel Hyrenius-Wittsten, Mattias Pilheden, Antoni Falqués-Costa, Mia Eriksson, Helena Sturesson, Pauline Schneider, Priscilla Wander, Cristian Garcia-Ruiz, Jian Liu, Helena Ågerstam, Anne Hultquist, Henrik Lilljebjörn, Ronald W. Stam, Marcus Järås & Anna K. Hagström-Andersson, 2019, I : Leukemia. 33, 9, s. 2310-2314

    Forskningsoutput: TidskriftsbidragLetter

  66. 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, Ana Marote, Yuriy Pomeshchik, Kaspar Russ, Carla Azevedo, Margarita Chumarina, Stefano Goldwurm, Anna Collin, Luisa Pinto, António J. Salgado, Oxana Klementieva, Laurent Roybon & Ekaterina Savchenko, 2019, I : Stem Cell Research. 34, 101373.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  67. Genetic Characterization and Identification of Novel Treatment Targets in Anaplastic Thyroid Carcinoma

    Naveen Ravi, 2019, Lund: Lund University: Faculty of Medicine. 68 s.

    Forskningsoutput: AvhandlingDoktorsavhandling (sammanläggning)

  68. 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, Marianne Rissler, Thoas Fioretos, Kristina Åström, Felix Haglund, Andrew E Rosenberg, Otte Brosjö & Karolin H Nord, 2019, I : Genes, Chromosomes and Cancer. 58, 10, s. 731-736

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  69. Genetic testing and surveillance guidelines in hereditary pheochromocytoma and paraganglioma

    A. Muth, J. Crona, O. Gimm, A. Elmgren, K. Filipsson, M. Stenmark Askmalm, J. Sandstedt, M. Tengvar & E. Tham, 2019, I : Journal of Internal Medicine. 285, 2, s. 187-204

    Forskningsoutput: TidskriftsbidragÖversiktsartikel

  70. Hereditary colorectal cancer diagnostics in southern Sweden: retrospective evaluation and future considerations with emphasis on Lynch syndrome

    Isabelle Henriksson, Karin Henriksson, Hans Ehrencrona & Samuel Gebre-Medhin, 2019, I : Journal of Community Genetics. 10, 2, s. 259-266

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  71. Idiopathic ventricular fibrillation – Long term prognosis in relation to clinical findings and ECG patterns in a Swedish cohort

    U. Chaudhry, P. G. Platonov, A. Rubulis, L. Bergfeldt, S. M. Jensen, C. Lundin & R. Borgquist, 2019, I : Journal of Electrocardiology. 56, s. 46-51 6 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  72. Immune effector monocyte–neutrophil cooperation induced by the primary tumor prevents metastatic progression of breast cancer

    Catharina Hagerling, Hugo Gonzalez, Kiarash Salari, Chih Yang Wang, Charlene Lin, Isabella Robles, Merel van Gogh, Annika Dejmek, Karin Jirström & Zena Werb, 2019, I : Proceedings of the National Academy of Sciences of the United States of America. 116, 43, s. 21704-21714 11 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  73. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

    Michael T Parsons, Emma Tudini, Hongyan Li, Eric Hahnen, Barbara Wappenschmidt, Lidia Feliubadaló, Cora M Aalfs, Simona Agata, Kristiina Aittomäki, Elisa Alducci, María Concepción Alonso-Cerezo, Norbert Arnold, Bernd Auber, Rachel Austin, Jacopo Azzollini, Judith Balmaña, Elena Barbieri, Claus R Bartram, Ana Blanco, Britta Blümcke & 31 andra, Sandra Bonache, Bernardo Bonanni, Åke Borg, Beatrice Bortesi, Joan Brunet, Carla Bruzzone, Karolin Bucksch, Giulia Cagnoli, Trinidad Caldés, Almuth Caliebe, Maria A Caligo, Mariarosaria Calvello, Gabriele L Capone, Sandrine M Caputo, Ileana Carnevali, Estela Carrasco, Virginie Caux-Moncoutier, Pietro Cavalli, Giulia Cini, Edward M Clarke, Paola Concolino, Elisa J Cops, Laura Cortesi, Fergus J Couch, Esther Darder, Miguel de la Hoya, Michael Dean, Hans Ehrencrona, Anders Kvist, Therese Törngren & KConFab Investigators KConFab Investigators, 2019, I : Human Mutation. s. 1557-1578

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  74. Massively Parallel Sequencing of Gene Fusion-Associated Sarcomas

    Jakob Hofvander, 2019, Lund: Lund University: Faculty of Medicine. 49 s.

    Forskningsoutput: AvhandlingDoktorsavhandling (sammanläggning)

  75. Multidimensional intratumour heterogeneity in neuroblastoma

    Kristoffer Von Stedingk, David Gisselsson & Daniel Bexell, 2019, I : Oncotarget. 10, 1, s. 3-5 3 s.

    Forskningsoutput: TidskriftsbidragDebate/Note/Editorial

  76. PRDM10 -rearranged Soft Tissue Tumor: A Clinicopathologic Study of 9 Cases

    Florian Puls, Nischalan Pillay, Henrik Fagman, Anne Palin-Masreliez, Fernanda Amary, Magnus Hansson, Lars Gunnar Kindblom, Tom A. McCulloch, George Meligonis, Ronald Muc, Pehr Rissler, Vaiyapuri P. Sumathi, Roberto Tirabosco, Jakob Hofvander, Linda Magnusson, Jenny Nilsson, Adrienne M. Flanagan & Fredrik Mertens, 2019, I : American Journal of Surgical Pathology. 43, 4, s. 504-513

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  77. Recombinant dermatan sulfate is a potent activator of heparin cofactor II-dependent inhibition of thrombin

    Emil Tykesson, Marco Maccarana, Hanna Thorsson, Jian Liu, Anders Malmström, Ulf Ellervik & Gunilla Westergren-Thorsson, 2019, I : Glycobiology. 29, 6, s. 446-451

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  78. The WNT5A Agonist Foxy5 Reduces the Number of Colonic Cancer Stem Cells in a Xenograft Mouse Model of Human Colonic Cancer

    Janina Osman, Kishan Bellamkonda, Qing Liu, Tommy Andersson & Anita Sjölander, 2019, I : Anticancer research. 39, 4, s. 1719-1728 10 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  79. Undifferentiated pleomorphic sarcomas with PRDM10 fusions have a distinct gene expression profile

    Jakob Hofvander, Florian Puls, Nischalan Pillay, Christopher D. Steele, Adrienne M. Flanagan, Linda Magnusson, Jenny Nilsson & Fredrik Mertens, 2019, I : Journal of Pathology. 249, 4, s. 425-434

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  80. Whole-genome sequencing of triple-negative breast cancers in a population-based clinical study

    Johan Staaf, Dominik Glodzik, Ana Bosch, Johan Vallon-Christersson, Christel Reuterswärd, Jari Häkkinen, Andrea Degasperi, Tauanne Dias Amarante, Lao H Saal, Cecilia Hegardt, Hilary Stobart, Anna Ehinger, Christer Larsson, Lisa Rydén, Niklas Loman, Martin Malmberg, Anders Kvist, Hans Ehrencrona, Helen R Davies, Åke Borg & 1 andra, Serena Nik-Zainal, 2019, I : Nature Medicine. 25, s. 1526–1533

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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  82. De novo activating mutations drive clonal evolution and enhance clonal fitness in KMT2A-rearranged leukemia

    Axel Hyrenius-Wittsten, Mattias Pilheden, Helena Sturesson, Jenny Hansson, Michael P. Walsh, Guangchun Song, Julhash U. Kazi, Jian Liu, Ramprasad Ramakrishan, Cristian Garcia-Ruiz, Stephanie Nance, Pankaj Gupta, Jinghui Zhang, Lars Rönnstrand, Anne Hultquist, James R. Downing, Karin Lindkvist-Petersson, Kajsa Paulsson, Marcus Järås, Tanja A. Gruber & 2 andra, Jing Ma & Anna K. Hagström-Andersson, 2018 dec 1, I : Nature Communications. 9, 1, 1770.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  83. Different patterns of clonal evolution among different sarcoma subtypes followed for up to 25 years

    Jakob Hofvander, Björn Viklund, Anders Isaksson, Otte Brosjö, Fredrik Vult von Steyern, Pehr Rissler, Nils Mandahl & Fredrik Mertens, 2018 dec 1, I : Nature Communications. 9, 1, 3662.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  84. Montelukast, a CysLT1 receptor antagonist, reduces colon cancer stemness and tumor burden in a mouse xenograft model of human colon cancer

    Kishan Bellamkonda, Shakti Ranjan Satapathy, Desiree Douglas, Naveenkumar Chandrashekar, Benson Chellakkan Selvanesan, Minghui Liu, Sayeh Savari, Gunilla Jonsson & Anita Sjölander, 2018 nov 28, I : Cancer Letters. 437, s. 13-24 12 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  85. Convergent evolution of 11p allelic loss in multifocal Wilms tumors arising in WT1 mutation carriers

    Anders Valind, Sandra Wessman, Niklas Pal, Jenny Karlsson, Tord Jonson, Bengt Sandstedt & David Gisselsson, 2018 nov 1, I : Pediatric Blood & Cancer. 65, 11, e27301.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  86. Inferior survival for patients with malignant peripheral nerve sheath tumors defined by aberrant TP53

    Maren Høland, Matthias Kolberg, Stine Aske Danielsen, Bodil Bjerkehagen, Ina A. Eilertsen, Merete Hektoen, Nils Mandahl, Eva van Den Berg, Sigbjørn Smeland, Fredrik Mertens, Kirsten Sundby Hall, Piero Picci, Anita Sveen & Ragnhild A. Lothe, 2018 nov, I : Modern Pathology. 31, 11, s. 1694-1707

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  87. Whole-exome sequencing exploration of acquired uniparental disomies in B-cell precursor acute lymphoblastic leukemia

    Kristina B. Lundin-Ström, Andrea Biloglav, Henrik Lilljebjörn, Marianne Rissler, Thoas Fioretos, Markus Hansson, Mikael Behrendtz, Anders Castor, Linda Olsson & Bertil Johansson, 2018 sep, I : Leukemia. 32, 9, s. 2058-2062

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  88. Gastrointestinal microbiota contributes to the development of murine transfusion-related acute lung injury

    Rick Kapur, Michael Kim, Johan Rebetz, Björn Hallström, Jonas T Björkman, Alisa Takabe-French, Noel Kim, Jonathan Liu, Shanjeevan Shanmugabhavananthan, Stefan Milosevic, Mark J McVey, Edwin R Speck & John W Semple, 2018 jul 10, I : Blood Advances. 2, 13, s. 1651-1663

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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