Division of Clinical Genetics

Organisational unit: Division

More filtering options
  1. Article
  2. CXCR4 Signaling Has a CXCL12-Independent Essential Role in Murine MLL-AF9-Driven Acute Myeloid Leukemia

    Ramprasad Ramakrishnan, Pablo Peña-Martínez, Agarwal, P., Rodriguez-Zabala, M., Marion Chapellier, Högberg, C., Eriksson, M., David Yudovich, Shah, M., Mats Ehinger, Björn Nilsson, Jonas Larsson, Anna Hagström-Andersson, Ebert, B. L., Bhatia, R. & Marcus Järås, 2020 May 26, In : Cell Reports. 31, 8, 107684.

    Research output: Contribution to journalArticle

  3. 13q12.2 deletions in acute lymphoblastic leukemia lead to upregulation of FLT3 through enhancer hijacking

    Minjun Yang, Safavi, S., Eleanor L Woodward, Duployez, N., Olsson-arvidsson, L., Jonas Ungerbäck, Mikael Sigvardsson, Zaliova, M., Zuna, J., Thoas Fioretos, Bertil Johansson, Karolin H Nord & Kajsa Paulsson, 2020 May 8, In : Blood.

    Research output: Contribution to journalArticle

  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 Apr, In : Cancer Research. 80, 7, p. 1512-1523 12 p.

    Research output: Contribution to journalArticle

  5. 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, In : Cancers. 12, 3, 680.

    Research output: Contribution to journalArticle

  6. 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, In : Cancers. 12, 2, 292.

    Research output: Contribution to journalArticle

  7. Deep sequencing of myxoinflammatory fibroblastic sarcoma

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

    Research output: Contribution to journalArticle

  8. 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 others, Chagin, A. S., Nishimura, G., Aschenbrenner, D., Alkuraya, F. S., Laurence, A., Cormier-Daire, V. & Uhlig, H. H., 2020, In : The Journal of experimental medicine. 217, 3, e20191306.

    Research output: Contribution to journalArticle

  9. 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, In : Modern Pathology.

    Research output: Contribution to journalArticle

  10. 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, In : Journal of Pathology: Clinical Research.

    Research output: Contribution to journalArticle

  11. 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, In : Cancer Research. 80, 3, p. 624-638 15 p.

    Research output: Contribution to journalArticle

  12. 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, In : Stroke. 51, 4, p. 1056-1063 8 p.

    Research output: Contribution to journalArticle

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

    Leeksma, A. C., Baliakas, P., Moysiadis, T., Puiggros, A., Plevova, K., van der Kevie-Kersemaekers, A. M., Posthuma, H., Rodriguez-Vicente, A. E., Tran, A. N., Barbany, G., Mansouri, L., Gunnarsson, R., Parker, H., van den Berg, E., Bellido, M., Davis, Z., Wall, M., Scarpelli, I., Österborg, A., Hansson, L. & 18 others, Jarosova, M., Ghia, P., Poddighe, P., Espinet, B., Pospisilova, S., Tam, C., Ysebaert, L., Nguyen-Khac, F., Oscier, D., Haferlach, C., Schoumans, J., Stevens-Kroef, M., Eldering, E., Stamatopoulos, K., Rosenquist, R., Strefford, J. C., Mellink, C. & Kater, A. P., 2020, In : Haematologica. 105, 5

    Research output: Contribution to journalArticle

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

    Catharina Hagerling, Owyong, M., Sitarama, V., Wang, C. Y., Lin, C., van den Bijgaart, R. J. E., Koopman, C. D., Brenot, A., Nanjaraj, A., Wärnberg, F., Karin Jirström, Klein, O. D., Werb, Z. & Plaks, V., 2020, In : BMC Cancer. 20, 1, 542.

    Research output: Contribution to journalArticle

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

    Karim H. Saba, Louise Cornmark, Jakob Hofvander, Magnusson, L., Nilsson, J., van den Bos, H., Spierings, D. C. J., Foijer, F., Johan Staaf, Brosjö, O., Sumathi, V. P., Lam, S. W., Szuhai, K., Bovée, J. V. M. G., Kovac, M., Baumhoer, D., Emelie Styring & Nord, K. H., 2020, In : Journal of Pathology: Clinical Research.

    Research output: Contribution to journalArticle

  16. 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 Oct 17, In : Pharmacogenomics Journal.

    Research output: Contribution to journalArticle

  17. 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, In : Clinical and Experimental Metastasis.

    Research output: Contribution to journalArticle

  18. Most gene fusions in cancer are stochastic events

    Bertil Johansson, Fredrik Mertens, Schyman, T., Jonas Björk, Nils Mandahl & Felix Mitelman, 2019 Sep, In : Genes Chromosomes and Cancer. 58, 9, p. 607-611 5 p.

    Research output: Contribution to journalArticle

  19. 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, In : PLoS Genetics. 15, 8, e1008280.

    Research output: Contribution to journalArticle

  20. 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, In : Ophthalmic Genetics. 40, 3, p. 227–236 11 p.

    Research output: Contribution to journalArticle

  21. 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, In : Histopathology. 74, 7, p. 1098-1102

    Research output: Contribution to journalArticle

  22. 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, In : Nature Communications. 10, 1, 1519.

    Research output: Contribution to journalArticle

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

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

    Research output: Contribution to journalArticle

  24. 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, In : BMC Cancer. 19, 1, 265.

    Research output: Contribution to journalArticle

  25. 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, In : Cancers. 11, 3, 402.

    Research output: Contribution to journalArticle

  26. 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, In : Journal of Community Genetics. 10, 1, p. 61-71

    Research output: Contribution to journalArticle

  27. 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, In : Leukemia. 33, 1, p. 1-14

    Research output: Contribution to journalArticle

  28. 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, In : Journal of Pathology. 247, 1

    Research output: Contribution to journalArticle

  29. 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, In : Modern Pathology. 32, 3, p. 423-434

    Research output: Contribution to journalArticle

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

    Felix Mitelman, Bertil Johansson, Fredrik Mertens, Schyman, T. & Nils Mandahl, 2019, In : Genes Chromosomes and Cancer. 58, 3, p. 149-154

    Research output: Contribution to journalArticle

  31. 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, In : Genetics in Medicine. 21, 8, p. 1868-1873

    Research output: Contribution to journalArticle

  32. 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, In : American Journal of Surgical Pathology. 43, 4, p. 504-513

    Research output: Contribution to journalArticle

  33. 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 others, 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, In : Human Mutation. p. 1557-1578

    Research output: Contribution to journalArticle

Previous 1 2 3 4 5 6 7 8 ...22 Next