Avdelningen för klinisk genetik

Organisation: avdelning

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  1. Artikel i vetenskaplig tidskrift
  2. Global RNA expression and DNA methylation patterns in primary anaplastic thyroid cancer

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

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  3. 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, Chumarina, M., Serafimova, E., Goldwurm, S., Collin, A., Laurent Roybon, Ekaterina Savchenko & Yuriy Pomeshchik, 2020 mar, I : Stem Cell Research. 43, 101694.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Andersson, N., Bakker, B., Karlsson, J., Anders Valind, Linda Holmquist Mengelbier, Spierings, D. C. J., Foijer, F. & David Gisselsson, 2020 feb 10, I : Cancer Research.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

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

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  6. Deep sequencing of myxoinflammatory fibroblastic sarcoma

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

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Chen, Y. H., Grigelioniene, G., Newton, P. T., Gullander, J., Elfving, M., Hammarsjö, A., Batkovskyte, D., Alsaif, H. S., Kurdi, W. I. Y., Abdulwahab, F., Shanmugasundaram, V., Devey, L., Bacrot, S., Brodszki, J., Huber, C., Hamel, B., Gisselsson, D., Papadogiannakis, N., Jedrycha, K., Gürtl-Lackner, B. & 7 andra, Chagin, A. S., Nishimura, G., Aschenbrenner, D., Alkuraya, F. S., Laurence, A., Cormier-Daire, V. & Uhlig, H. H., 2020, I : The Journal of experimental medicine. 217, 3, e20191306.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Jakob Hofvander, Jo, V. Y., Fletcher, C. D. M., Puls, F., Flucke, U., Nilsson, J., Magnusson, L. & Fredrik Mertens, 2020, I : Modern Pathology.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Ameline, B., Karim H. Saba, Kovac, M., Magnusson, L., Witt, O., Bielack, S., Nathrath, M., Karolin H. Nord & Baumhoer, D., 2020, I : Journal of Pathology: Clinical Research.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

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

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Andreea Ilinca, Martinez-Majander, N., Sofie Samuelsson, Paul Piccinelli, Truvé, K., Cole, J., Kittner, S., Soller, M., Ulf Kristoffersson, Tatlisumak, T., Andreas Puschmann, Putaala, J. & Arne Lindgren, 2020, I : Stroke. 51, 4, s. 1056-1063 8 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  12. 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: TidskriftsbidragArtikel i vetenskaplig tidskrift

  13. 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: TidskriftsbidragArtikel i vetenskaplig tidskrift

  14. 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: TidskriftsbidragArtikel i vetenskaplig tidskrift

  15. 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: TidskriftsbidragArtikel i vetenskaplig tidskrift

  16. 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: TidskriftsbidragArtikel i vetenskaplig tidskrift

  17. 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 jun, I : Histopathology. 74, 7, s. 1098-1102

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  18. 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: TidskriftsbidragArtikel i vetenskaplig tidskrift

  19. 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: TidskriftsbidragArtikel i vetenskaplig tidskrift

  20. 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: TidskriftsbidragArtikel i vetenskaplig tidskrift

  21. 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: TidskriftsbidragArtikel i vetenskaplig tidskrift

  22. 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. 61-71

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  23. 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. 1-14

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  24. 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, 1

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  25. 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. 423-434

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  26. A stroke gene panel for whole-exome sequencing

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

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  27. 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

  28. 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. 149-154

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  29. 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. 1868-1873

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  30. 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. 504-513

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  31. 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, Chumarina, M., Goldwurm, S., Collin, A., Pinto, L., Salgado, A. J., Oxana Klementieva, Laurent Roybon & Ekaterina Savchenko, 2019, I : Stem Cell Research. 34, 101373.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  32. 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: TidskriftsbidragArtikel i vetenskaplig tidskrift

  33. 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. 446-451

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  34. 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, Bonache, S., Bonanni, B., Åke Borg, Bortesi, B., Brunet, J., Bruzzone, C., Bucksch, K., Cagnoli, G., Caldés, T., Caliebe, A., Caligo, M. A., Calvello, M., Capone, G. L., Caputo, S. M., Carnevali, I., Carrasco, E., Caux-Moncoutier, V., Cavalli, P., Cini, G., Clarke, E. M., Concolino, P., Cops, E. J., Cortesi, L., Couch, F. J., Darder, E., de la Hoya, M., Dean, M., Hans Ehrencrona, Anders Kvist, Therese Törngren & KConFab Investigators, 2019, I : Human Mutation. s. 1557-1578

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  35. 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: TidskriftsbidragArtikel i vetenskaplig tidskrift

  36. 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. 249, 4, s. 425-434

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  37. 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, Nik-Zainal, S., 2019, I : Nature Medicine. 25, s. 1526–1533

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  38. 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: TidskriftsbidragArtikel i vetenskaplig tidskrift

  39. 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, Ma, J. & Anna K. Hagström-Andersson, 2018 dec 1, I : Nature Communications. 9, 1, 1770.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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