Division of Clinical Genetics

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  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

  34. 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, In : Journal of Electrocardiology. 56, p. 46-51 6 p.

    Research output: Contribution to journalArticle

  35. 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, In : Journal of Pathology. 249, 4, p. 425-434

    Research output: Contribution to journalArticle

  36. 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 others, Nik-Zainal, S., 2019, In : Nature Medicine. 25, p. 1526–1533

    Research output: Contribution to journalArticle

  37. 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, In : Proceedings of the National Academy of Sciences of the United States of America. 116, 43, p. 21704-21714 11 p.

    Research output: Contribution to journalArticle

  38. 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 others, Ma, J. & Anna K. Hagström-Andersson, 2018 Dec 1, In : Nature Communications. 9, 1, 1770.

    Research output: Contribution to journalArticle

  39. 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, In : Nature Communications. 9, 1, 3662.

    Research output: Contribution to journalArticle

  40. 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, In : Cancer Letters. 437, p. 13-24 12 p.

    Research output: Contribution to journalArticle

  41. 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, In : Pediatric Blood & Cancer. 65, 11, e27301.

    Research output: Contribution to journalArticle

  42. 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, In : Modern Pathology. 31, 11, p. 1694-1707

    Research output: Contribution to journalArticle

  43. 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, In : Blood Advances. 2, 13, p. 1651-1663

    Research output: Contribution to journalArticle

  44. 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, In : Nature Genetics. 50, 7, p. 944-950

    Research output: Contribution to journalArticle

  45. 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 others, Fabarius, A., Hofmann, W. K., Hochhaus, A., Pfirrmann, M., Mahon, F. X. & EURO-SKI investigators, 2018 Jun, In : The Lancet Oncology. 19, 6, p. 747-757

    Research output: Contribution to journalArticle

  46. Generation of an induced pluripotent stem cell line (CSC-41) from a Parkinson's disease patient carrying a p.G2019S mutation in the LRRK2 gene

    Marote, A., Yuriy Pomeshchik, Collin, A., Goldwurm, S., Lamas, N. J., Pinto, L., Salgado, A. J. & Laurent Roybon, 2018 Apr 1, In : Stem Cell Research. 28, p. 44-47 4 p.

    Research output: Contribution to journalArticle

  47. Intact glucose uptake despite deteriorating signaling in adipocytes with high-fat feeding

    Hansson, B., Sebastian Wasserstrom, Björn Morén, Periwal, V., Petter Vikman, Cushman, S. W., Olga Göransson, Petter Storm & Karin G. Stenkula, 2018 Apr 1, In : Journal of Molecular Endocrinology. 60, 3, p. 199-211 13 p.

    Research output: Contribution to journalArticle

  48. Microenvironmental control of breast cancer subtype elicited through paracrine platelet-derived growth factor-CC signaling

    Roswall, P., Bocci, M., Bartoschek, M., Li, H., Kristiansen, G., Jansson, S., Lehn, S., Sjölund, J., Reid, S., Larsson, C., Eriksson, P., Anderberg, C., Cortez, E., Saal, L. H., Orsmark-Pietras, C., Cordero, E., Haller, B. K., Häkkinen, J., Burvenich, I. J. G., Lim, E. & 7 others, Orimo, A., Mattias Höglund, Lisa Rydén, Moch, H., Scott, A. M., Eriksson, U. & Kristian Pietras, 2018 Mar 12, In : Nature Medicine. 24, p. 463–473

    Research output: Contribution to journalArticle

  49. Generation of an integration-free induced pluripotent stem cell line (CSC-43J) from a patient with sporadic Parkinson's disease

    Marote, A., Yuriy Pomeshchik, Goldwurm, S., Collin, A., Lamas, N. J., Pinto, L., Salgado, A. J. & Laurent Roybon, 2018 Mar 1, In : Stem Cell Research. 27, p. 82-85 4 p.

    Research output: Contribution to journalArticle

  50. Generation of a human induced pluripotent stem cell line (CSC-42) from a patient with sporadic form of Parkinson's disease

    Ekaterina Savchenko, Marote, A., Kaspar Russ, Collin, A., Goldwurm, S., Laurent Roybon & Yuriy Pomeshchik, 2018 Mar 1, In : Stem Cell Research. 27, p. 78-81 4 p.

    Research output: Contribution to journalArticle

  51. Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C > T and EX6 del) in the PARK2 gene

    Marote, A., Yuriy Pomeshchik, Goldwurm, S., Collin, A., Lamas, N. J., Pinto, L., Salgado, A. J. & Laurent Roybon, 2018 Mar 1, In : Stem Cell Research. 27, p. 90-94 5 p.

    Research output: Contribution to journalArticle

  52. PREPL deficiency: Delineation of the phenotype and development of a functional blood assay

    Régal, L., Mårtensson, E., Maystadt, I., Voermans, N., Lederer, D., Burlina, A., Juan Fita, M. J., Hoogeboom, A. J. M., Olsson Engman, M., Hollemans, T., Schouten, M., Meulemans, S., Tord Jonson, François, I., Gil Ortega, D., Kamsteeg, E. J. & Creemers, J. W. M., 2018 Jan 1, In : Genetics in Medicine. 20, 1, p. 109-118 10 p.

    Research output: Contribution to journalArticle

  53. Use of the BOADICEA Web Application in clinical practice: appraisals by clinicians from various countries

    Brédart, A., Kop, J. L., Antoniou, A. C., Cunningham, A. P., de Pauw, A., Tischkowitz, M., Hans Ehrencrona, Dolbeault, S., Robieux, L., Rhiem, K., Easton, D. F., Devilee, P., Stoppa-Lyonnet, D. & Schmutlzer, R., 2018, In : Familial Cancer. 17, 1, p. 31-41

    Research output: Contribution to journalArticle

  54. The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: Breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

    Moghadasi, S., Meeks, H. D., Vreeswijk, M. P. G., Janssen, L. A. M., Borg, Å., Ehrencrona, H., Paulsson-Karlsson, Y., Wappenschmidt, B., Engel, C., Gehrig, A., Arnold, N., Van Overeem Hansen, T., Thomassen, M., Jensen, U. B., Kruse, T. A., Ejlertsen, B., Gerdes, A-M., Pedersen, I. S., Caputo, S. M., Couch, F. & 20 others, Hallberg, E. J., van den Ouweland, A. M. W., Collée, J. M., Teugels, E., Adank, M. A., van der Luijt, R. B., Mensenkamp, A. R., Oosterwijk, J. C., Blok, M. J., Janin, N., Claes, K. B. M., Tucker, K., Viassolo, V., Toland, A. E., Eccles, D. E., Devilee, P., Van Asperen, C. J., Spurdle, A. B., Goldgar, D. E. & García, E. G., 2018, In : Journal of Medical Genetics. 55, 1, p. 15-20

    Research output: Contribution to journalArticle

  55. Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility

    Catucci, I., Osorio, A., Arver, B., Neidhardt, G., Bogliolo, M., Zanardi, F., Riboni, M., Minardi, S., Pujol, R., Azzollini, J., Peissel, B., Manoukian, S., De Vecchi, G., Casola, S., Hauke, J., Richters, L., Rhiem, K., Schmutzler, R. K., Wallander, K., Törngren, T. & 8 others, Åke Borg, Radice, P., Surrallés, J., Hahnen, E., Hans Ehrencrona, Anders Kvist, Benitez, J. & Peterlongo, P., 2018, In : Genetics in Medicine. 20, p. 452–457 6 p.

    Research output: Contribution to journalArticle

  56. Mutation, methylation, and gene expression profiles in dup(1q)-positive pediatric B-cell precursor acute lymphoblastic leukemia

    Rebeqa Gunnarsson, Dilorenzo, S., Kristina B. Lundin-Ström, Linda Olsson, Biloglav, A., Henrik Lilljebjörn, Rissler, M., Wahlberg, P., Lundmark, A., Anders Castor, Behrendtz, M., Thoas Fioretos, Kajsa Paulsson, Isaksson, A. & Bertil Johansson, 2018, In : Leukemia. 32, 10, p. 2117-2125

    Research output: Contribution to journalArticle

  57. Patient-derived xenograft models reveal intratumor heterogeneity and temporal stability in neuroblastoma

    Braekeveldt, N., Von Stedingk, K., Fransson, S., Martinez-Monleon, A., Lindgren, D., Axelson, H., Levander, F., Willforss, J., Hansson, K., Øra, I., Backman, T., Börjesson, A., Beckman, S., Esfandyari, J., Berbegall, A. P., Noguera, R., Karlsson, J., Koster, J., Martinsson, T., Gisselsson, D. & 2 others, Sven Påhlman & Daniel Bexell, 2018, In : Cancer Research. 78, 20, p. 5958-5969 12 p.

    Research output: Contribution to journalArticle

  58. A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families 11 Medical and Health Sciences 1112 Oncology and Carcinogenesis 11 Medical and Health Sciences 1117 Public Health and Health Services

    Karimi, M., Von Salomé, J., Aravidis, C., Silander, G., Askmalm, M. S., Henriksson, I., Samuel Gebre-Medhin, Frödin, J. E., Björck, E., Lagerstedt-Robinson, K., Lindblom, A. & Tham, E., 2018, In : Hereditary Cancer in Clinical Practice. 16, 1, 16.

    Research output: Contribution to journalArticle

  59. Transcriptional landscape of B cell precursor acute lymphoblastic leukemia based on an international study of 1,223 cases

    Li, J. F., Dai, Y. T., Lilljebjörn, H., Shen, S. H., Cui, B. W., Bai, L., Liu, Y. F., Qian, M. X., Kubota, Y., Kiyoi, H., Matsumura, I., Miyazaki, Y., Olsson, L., Tan, A. M., Ariffin, H., Chen, J., Takita, J., Yasuda, T., Mano, H., Johansson, B. & 8 others, Yang, J. J., Yeoh, A. E. J., Hayakawa, F., Chen, Z., Pui, C. H., Thoas Fioretos, Chen, S. J. & Huang, J. Y., 2018, In : Proceedings of the National Academy of Sciences of the United States of America. 115, 50, p. E11711-E11720

    Research output: Contribution to journalArticle

  60. Neuroblastoma patient-derived xenograft cells cultured in stem-cell promoting medium retain tumorigenic and metastatic capacities but differentiate in serum

    Persson, C. U., Kristoffer Von Stedingk, Daniel Bexell, Merselius, M., Braekeveldt, N., David Gisselsson, Arsenian-Henriksson, M., Sven Påhlman & Wigerup, C., 2017 Dec 1, In : Scientific Reports. 7, 1, 10274.

    Research output: Contribution to journalArticle

  61. In-depth genetic analysis of sclerosing epithelioid fibrosarcoma reveals recurrent genomic alterations and potential treatment targets

    Elsa Arbajian, Puls, F., Antonescu, C. R., Amary, F. M., Sciot, R., Debiec-Rychter, M., Sumathi, V., Marcus Järås, Magnusson, L., Nilsson, J., Jakob Hofvander & Fredrik Mertens, 2017 Dec, In : Clinical Cancer Research. 23, 23, p. 7426-7434

    Research output: Contribution to journalArticle

  62. Corticotroph Pituitary Carcinoma in a Patient With Lynch Syndrome (LS) and Pituitary Tumors in a Nationwide LS Cohort

    Bengtsson, D., Joost, P., Aravidis, C., Askmalm Stenmark, M., Backman, A. S., Melin, B., von Salomé, J., Zagoras, T., Samuel Gebre-Medhin & Pia Burman, 2017 Nov 1, In : The Journal of clinical endocrinology and metabolism. 102, 11, p. 3928-3932 5 p.

    Research output: Contribution to journalArticle

  63. Agonistic targeting of TLR1/TLR2 induces p38 MAPK-dependent apoptosis and NFκB-dependent differentiation of AML cells

    Eriksson, M., Pablo Peña-Martínez, Ramprasad Ramakrishnan, Chapellier, M., Högberg, C., Glowacki, G., Christina Orsmark-Pietras, Velasco-Hernández, T., Lazarević, V. L., Gunnar Juliusson, Cammenga, J., Mulloy, J. C., Johan Richter, Thoas Fioretos, Ebert, B. L. & Marcus Järås, 2017 Oct 24, In : Blood Advances. 1, 23, p. 2046-2057 12 p.

    Research output: Contribution to journalArticle

  64. Soft tissue angiofibroma: Clinicopathologic, immunohistochemical and molecular analysis of 14 cases

    Bekers, E. M., Groenen, P. J. T. A., Verdijk, M. A. J., Raaijmakers-van Geloof, W. L., Roepman, P., Vink, R., Gilhuijs, N. D. B., van Gorp, J. M., Bovée, J. V. M. G., Creytens, D. H., Flanagan, A. M., Suurmeijer, A. J. H., Mentzel, T., Elsa Arbajian & Flucke, U., 2017 Oct 1, In : Genes Chromosomes and Cancer. 56, 10, p. 750-757 8 p.

    Research output: Contribution to journalArticle

  65. Transgenic expression of human cytokines in immunodeficient mice does not facilitate myeloid expansion of BCR-ABL1 transduced human cord blood cells

    Askmyr, M., Sofia Von Palffy, Hansen, N., Niklas Landberg, Högberg, C., Rissler, M., Helena Ågerstam & Thoas Fioretos, 2017 Oct 1, In : PLoS ONE. 12, 10, e0186035.

    Research output: Contribution to journalArticle

  66. Genetic anticipation in Swedish Lynch syndrome families

    von Salomé, J., Boonstra, P. S., Karimi, M., Silander, G., Stenmark-Askmalm, M., Samuel Gebre-Medhin, Aravidis, C., Mef Nilbert, Lindblom, A. & Lagerstedt-Robinson, K., 2017 Oct 1, In : PLoS Genetics. 13, 10, e1007012.

    Research output: Contribution to journalArticle

  67. Loss of the tumor suppressor gene AIP mediates the browning of human brown fat tumors

    Magnusson, L., Hansen, N., Karim H Saba, Nilsson, J., Thoas Fioretos, Rissler, P. & Karolin Hansén Nord, 2017 Oct, In : Journal of Pathology. 243, 2, p. 160-164

    Research output: Contribution to journalArticle

  68. Solide Kindertumoren: Ein Streifzug durch das Raritätenkabinett

    Gürtl-Lackner, B., D. Gisselsson-Nord & Vujanic, G., 2017 Jul 1, In : Pathologe. 38, 4, p. 278-285 8 p.

    Research output: Contribution to journalArticle

  69. Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers

    Kuchenbaecker, K. B., McGuffog, L., Barrowdale, D., Lee, A., Soucy, P., Dennis, J., Domchek, S. M., Robson, M., Spurdle, A. B., Ramus, S. J., Mavaddat, N., Terry, M. B., Neuhausen, S. L., Schmutzler, R. K., Simard, J., Pharoah, P. D. P., Offit, K., Couch, F. J., Chenevix-Trench, G., Easton, D. F. & 30 others, Antoniou, A. C., Healey, S., Lush, M., Hamann, U., Southey, M., John, E. M., Chung, W. K., Daly, M. B., Buys, S. S., Goldgar, D. E., Dorfling, C. M., van Rensburg, E. J., Ding, Y. C., Ejlertsen, B., Gerdes, A. M., Hansen, T. V. O., Slager, S., Hallberg, E., Benitez, J., Osorio, A., Cohen, N., Lawler, W., Weitzel, J. N., Peterlongo, P., Pensotti, V., Dolcetti, R., Barile, M., Bonanni, B., Ake Borg & Hans Ehrencrona, 2017 Jul 1, In : Journal of the National Cancer Institute. 109, 7

    Research output: Contribution to journalArticle

  70. Scattered genomic amplification in dedifferentiated liposarcoma

    Nils Mandahl, Magnusson, L., Nilsson, J., Viklund, B., Elsa Arbajian, Fredrik Vult Von Steyern, Isaksson, A. & Fredrik Mertens, 2017 Jun 24, In : Molecular Cytogenetics. 10, 1, 25.

    Research output: Contribution to journalArticle

  71. Functional screen of MSI2 interactors identifies an essential role for SYNCRIP in myeloid leukemia stem cells

    Vu, L. P., Prieto, C., Amin, E. M., Chhangawala, S., Krivtsov, A., Calvo-Vidal, M. N., Chou, T., Chow, A., Minuesa, G., Park, S. M., Barlowe, T. S., Taggart, J., Tivnan, P., Deering, R. P., Chu, L. P., Kwon, J. A., Meydan, C., Perales-Paton, J., Arshi, A., Gönen, M. & 23 others, Famulare, C., Patel, M., Paietta, E., Tallman, M. S., Lu, Y., Glass, J., Garret-Bakelman, F. E., Melnick, A., Levine, R. L., Al-Shahrour, F., Marcus Järås, Hacohen, N., Hwang, A., Garippa, R., Lengner, C. J., Armstrong, S. A., Cerchietti, L., Cowley, G. S., Root, D. E., Doench, J., Leslie, C., Ebert, B. L. & Kharas, M. G., 2017 Jun 1, In : Nature Genetics. 49, 6, p. 866-875 10 p.

    Research output: Contribution to journalArticle

  72. Evolution of antigenic diversity in the tick-transmitted bacterium Borrelia afzelii: a role for host specialization?

    L. Råberg, Hagström, Andersson, M., Bartkova, S., Scherman, K., M. Strandh & Tschirren, B., 2017 May 1, In : Journal of evolutionary biology. 30, 5, p. 1034-1041 8 p.

    Research output: Contribution to journalArticle

  73. Increased proportion of mature NK cells is associated with successful imatinib discontinuation in chronic myeloid leukemia

    Ilander, M., Olsson-Strömberg, U., Schlums, H., Guilhot, J., Brück, O., Lähteenmäki, H., Kasanen, T., Koskenvesa, P., Söderlund, S., Höglund, M., Markevärn, B., Själander, A., Lotfi, K., Dreimane, A., Lübking, A., Holm, E., Björeman, M., Lehmann, S., Stenke, L., Ohm, L. & 11 others, Gedde-Dahl, T., Majeed, W., H. Ehrencrona, Koskela, S., Saussele, S., Mahon, F. X., Porkka, K., Hjorth-Hansen, H., Bryceson, Y. T., J. Richter & Mustjoki, S., 2017 May 1, In : Leukemia. 31, 5, p. 1108-1116 9 p.

    Research output: Contribution to journalArticle

  74. Respiratory chain complex III deficiency due to mutated BCS1L: A novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model

    Tegelberg, S., Nikica Tomašić, Kallijärvi, J., Purhonen, J., Eskil Elmér, Lindberg, E., David Gisselsson Nord, Soller, M., Lesko, N., Wedell, A., Bruhn, H., Freyer, C., Stranneheim, H., Wibom, R., Nennesmo, I., Wredenberg, A., Eklund, E. A. & Vineta Fellman, 2017 Apr 20, In : Orphanet Journal of Rare Diseases. 12, 1, 73.

    Research output: Contribution to journalArticle

  75. Expanding the genotype–phenotype spectrum in hereditary colorectal cancer by gene panel testing

    Rohlin, A., Rambech, E., Anders Kvist, Therese Törngren, Eiengård, F., Lundstam, U., Zagoras, T., Samuel Gebre-Medhin, Åke Borg, Björk, J., Mef Nilbert & Nordling, M., 2017 Apr, In : Familial Cancer. 16, 2, p. 195-203

    Research output: Contribution to journalArticle

  76. Genetic and regulatory mechanism of susceptibility to high-hyperdiploid acute lymphoblastic leukaemia at 10p21.2

    Studd, J. B., Vijayakrishnan, J., Minjun Yang, Migliorini, G., Kajsa Paulsson & Houlston, R. S., 2017 Mar 3, In : Nature Communications. 8, 14616.

    Research output: Contribution to journalArticle

  77. Mosaicism in health and disease — clones picking up speed

    Forsberg, L. A., David Gisselsson & Dumanski, J. P., 2017, In : Nature Reviews. Genetics. 18, p. 128-142

    Research output: Contribution to journalArticle

  78. Near-haploid and low hypodiploid acute lymphoblastic leukemia - two distinct subtypes but consistently poor prognosis

    Safavi, S. & Kajsa Paulsson, 2017, In : Blood. 129, 4, p. 420-423

    Research output: Contribution to journalArticle

  79. Cancer - An Insurgency of Clones

    David Gisselsson & Egnell, R., 2017, In : Trends in Cancer. 3, 2, p. 73-75

    Research output: Contribution to journalArticle

  80. Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS and neurological symptoms

    Tesi, B., Davidsson, J., Voss, M., Rahikkala, E., Holmes, T. D., Chiang, S. C. C., Komulainen-Ebrahim, J., Gorcenco, S., Rundberg Nilsson, A., Ripperger, T., Kokkonen, H., Bryder, D., Fioretos, T., Henter, J-I., Möttönen, M., Niinimäki, R., Nilsson, L., Pronk, K-J., Puschmann, A., Qian, H. & 5 others, Uusimaa, J., Moilanen, J. S., Ulf Tedgård, Cammenga, J. & Bryceson, Y. T., 2017, In : Blood. 129, 16, p. 2266-2279 15 p.

    Research output: Contribution to journalArticle

  81. Frequent low-level mutations of Protein Kinase D2 in angiolipoma

    Jakob Hofvander, Elsa Arbajian, Karin G Stenkula, Karin Lindkvist-Petersson, Larsson, M., Nilsson, J., Magnusson, L., Fredrik Vult von Steyern, Rissler, P., L Hornick, J. & Fredrik Mertens, 2017, In : Journal of Pathology. 241, 5, p. 578-582

    Research output: Contribution to journalArticle

  82. Incidence and prognostic significance of isolated trisomies in adult acute myeloid leukemia: A population-based study from the Swedish AML registry

    Lj Lazarevic, V., Aldana Rosso, Gunnar Juliusson, Antunovic, P., Derolf, Å. R., Deneberg, S., Möllgård, L., Uggla, B., Wennström, L., Wahlin, A., Höglund, M., Lehmann, S. & Bertil Johansson, 2017, In : European Journal of Haematology. 98, 5, p. 493-500

    Research output: Contribution to journalArticle

  83. Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

    Depienne, C., Nava, C., Keren, B., Heide, S., Rastetter, A., Passemard, S., Chantot-Bastaraud, S., Moutard, M. L., Agrawal, P. B., VanNoy, G., Stoler, J. M., Amor, D. J., Billette de Villemeur, T., Doummar, D., Alby, C., Cormier-Daire, V., Garel, C., Marzin, P., Scheidecker, S., de Saint-Martin, A. & 31 others, Hirsch, E., Korff, C., Bottani, A., Faivre, L., Verloes, A., Orzechowski, C., Burglen, L., Leheup, B., Roume, J., Andrieux, J., Sheth, F., Datar, C., Parker, M. J., Pasquier, L., Odent, S., Naudion, S., Delrue, M. A., Le Caignec, C., Vincent, M., Isidor, B., Renaldo, F., Stewart, F., Toutain, A., Koehler, U., Häckl, B., von Stülpnagel, C., Kluger, G., Møller, R. S., Tord Jonson, Soller, M. & DDD Study, 2017, In : Human Genetics. 136, 4, p. 463-479 17 p.

    Research output: Contribution to journalArticle

  84. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

    Milne, R. L., Kuchenbaecker, K. B., Michailidou, K., Beesley, J., Kar, S., Lindström, S., Broberg, P., Håkan Olsson & Hans Ehrencrona, 2017, In : Nature Genetics. 49, 12, p. 1767-1778 12 p.

    Research output: Contribution to journalArticle

  85. Primary cells in BCR/FGFR1-positive 8p11 myeloproliferative syndrome are sensitive to dovitinib, ponatinib, and dasatinib

    Niklas Landberg, Dreimane, A., Rissler, M., Billström, R. & Helena Ågerstam, 2017, In : European Journal of Haematology. 99, 5, p. 442-448 7 p.

    Research output: Contribution to journalArticle

  86. IL1RAP antibodies block IL-1-induced expansion of candidate CML stem cells and mediate cell killing in xenograft models

    Helena Ågerstam, Hansen, N., Sofia von Palffy, Carl Sandén, Reckzeh, K., Christine Karlsson, Henrik Lilljebjörn, Niklas Landberg, Askmyr, M., Högberg, C., Rissler, M., Porkka, K., Wadenvik, H., Mustjoki, S., Johan Richter, Marcus Järås & Thoas Fioretos, 2016 Dec 8, In : Blood. 128, 23, p. 2683-2693

    Research output: Contribution to journalArticle

  87. A New Method for Endoscopic Sampling of Submucosal Tissue in the Gastrointestinal Tract: A Comparison of the Biopsy Forceps and a New Drill Instrument

    Charles Walther, Martin Jeremiasen, Rissler, P., Jan L M Johansson, Larsson, M. S. & Walther, B. S. C. S., 2016 Dec 1, In : Surgical Innovation. 23, 6, p. 572-580 9 p.

    Research output: Contribution to journalArticle

  88. Rare novel variants in the ZIC3 gene cause X-linked heterotaxy

    Paulussen, A. D. C., Steyls, A., Vanoevelen, J., Van Tienen, F. H. J., Krapels, I. P. C., Claes, G. R. F., Chocron, S., Velter, C., Tan-Sindhunata, G. M., Lundin, C., Valenzuela, I., Nagy, B., Bache, I., Maroun, L. L., Avela, K., Brunner, H. G., Smeets, H. J. M., Bakkers, J. & Van Den Wijngaard, A., 2016 Dec 1, In : European Journal of Human Genetics. 24, 12, p. 1783-1791 9 p.

    Research output: Contribution to journalArticle

  89. Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations

    Fergelot, P., Van Belzen, M., Van Gils, J., Afenjar, A., Armour, C. M., Arveiler, B., Beets, L., Burglen, L., Busa, T., Collet, M., Deforges, J., de Vries, B. B. A., Dominguez Garrido, E., Dorison, N., Dupont, J., Francannet, C., Garciá-Minaúr, S., Gabau Vila, E., Gebre-Medhin, S., Gener Querol, B. & 33 others, Geneviève, D., Gérard, M., Gervasini, C. G., Goldenberg, A., Josifova, D., Lachlan, K., Maas, S., Maranda, B., Moilanen, J. S., Nordgren, A., Parent, P., Rankin, J., Reardon, W., Rio, M., Roume, J., Shaw, A., Smigiel, R., Sojo, A., Solomon, B., Stembalska, A., Stumpel, C., Suarez, F., Terhal, P., Thomas, S., Touraine, R., Verloes, A., Vincent-Delorme, C., Wincent, J., Peters, D. J. M., Bartsch, O., Larizza, L., Lacombe, D. & Hennekam, R. C., 2016 Dec 1, In : American Journal of Medical Genetics. Part A. 170, 12, p. 3069-3082 14 p.

    Research output: Contribution to journalArticle

  90. Clonal conversion of B lymphoid leukemia reveals cross-lineage transfer of malignant states

    Somasundaram, R., Åhsberg, J., Okuyama, K., Ungerbäck, J., Henrik Lilljebjörn, Thoas Fioretos, Tobias Strid & Mikael Sigvardsson, 2016 Nov 15, In : Genes and Development. 30, 22, p. 2486-2499 14 p.

    Research output: Contribution to journalArticle

  91. Gain of 1q as a prognostic biomarker in Wilms Tumors (WTs) treated with preoperative chemotherapy in the International Society of Paediatric Oncology (SIOP) WT 2001 trial: A SIOP renal tumours biology consortium study

    Chagtai, T., Zill, C., Dainese, L., Wegert, J., Savola, S., Popov, S., Mifsud, W., Vujanić, G., Sebire, N., Le Bouc, Y., Ambros, P. F., Kager, L., O'Sullivan, M. J., Blaise, A., Bergeron, C., Mengelbier, L. H., Gisselsson, D., Kool, M., Tytgat, G. A. M., Van Den Heuvel-Eibrink, M. M. & 6 others, Graf, N., Van Tinteren, H., Coulomb, A., Gessler, M., Williams, R. D. & Pritchard-Jones, K., 2016 Sep 10, In : Journal of Clinical Oncology. 34, 26, p. 3195-3203 9 p.

    Research output: Contribution to journalArticle

  92. Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

    Lawrenson, K., Kar, S., McCue, K., Kuchenbaeker, K., Michailidou, K., Tyrer, J., Beesley, J., Ramus, S. J., Li, Q., Delgado, M. K., Lee, J. M., Aittomäki, K., Andrulis, I. L., Anton-Culver, H., Arndt, V., Arun, B. K., Arver, B., Bandera, E. V., Barile, M., Barkardottir, R. B. & 396 others, Barrowdale, D., Beckmann, M. W., Benitez, J., Berchuck, A., Bisogna, M., Bjorge, L., Blomqvist, C., Blot, W., Bogdanova, N., Bojesen, A., Bojesen, S. E., Bolla, M. K., Bonanni, B., Børresen-Dale, A. L., Brauch, H., Brennan, P., Brenner, H., Bruinsma, F., Brunet, J., Buhari, S. A., Burwinkel, B., Butzow, R., Buys, S. S., Cai, Q., Caldes, T., Campbell, I., Canniotto, R., Chang-Claude, J., Chiquette, J., Choi, J. Y., Claes, K. B. M., Cook, L. S., Cox, A., Cramer, D. W., Cross, S. S., Cybulski, C., Czene, K., Daly, M. B., Damiola, F., Dansonka-Mieszkowska, A., Darabi, H., Dennis, J., Devilee, P., Diez, O., Doherty, J. A., Domchek, S. M., Dorfling, C. M., Dörk, T., Dumont, M., Hans Ehrencrona, Ejlertsen, B., Ellis, S., Engel, C., Lee, E., Evans, D. G., Fasching, P. A., Feliubadalo, L., Figueroa, J., Flesch-Janys, D., Fletcher, O., Flyger, H., Foretova, L., Fostira, F., Foulkes, W. D., Fridley, B. L., Friedman, E., Frost, D., Gambino, G., Ganz, P. A., Garber, J., García-Closas, M., Gentry-Maharaj, A., Ghoussaini, M., Giles, G. G., Glasspool, R., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., González-Neira, A., Goode, E. L., Goodman, M. T., Greene, M. H., Gronwald, J., Guénel, P., Haiman, C. A., Hall, P., Hallberg, E., Hamann, U., Hansen, T. V. O., Harrington, P. A., Hartman, M., Hassan, N., Healey, S., Heitz, F., Herzog, J., Høgdall, E., Høgdall, C. K., Hogervorst, F. B. L., Hollestelle, A., Hopper, J. L., Hulick, P. J., Huzarski, T., Imyanitov, E. N., Isaacs, C., Ito, H., Jakubowska, A., Janavicius, R., Jensen, A., John, E. M., Johnson, N., Kabisch, M., Kang, D., Kapuscinski, M., Karlan, B. Y., Khan, S., Kiemeney, L. A., Kjaer, S. K., Knight, J. A., Konstantopoulou, I., Kosma, V. M., Kristensen, V., Kupryjanczyk, J., Kwong, A., De La Hoya, M., Laitman, Y., Lambrechts, D., Le, N., De Leeneer, K., Lester, J., Levine, D. A., Li, J., Lindblom, A., Long, J., Lophatananon, A., Loud, J. T., Lu, K., Lubinski, J., Mannermaa, A., Manoukian, S., Le Marchand, L., Margolin, S., Marme, F., Massuger, L. F. A. G., Matsuo, K., Mazoyer, S., McGuffog, L., McLean, C., McNeish, I., Meindl, A., Menon, U., Mensenkamp, A. R., Milne, R. L., Montagna, M., Moysich, K. B., Muir, K., Mulligan, A. M., Nathanson, K. L., Ness, R. B., Neuhausen, S. L., Nevanlinna, H., Nord, S., Nussbaum, R. L., Odunsi, K., Offit, K., Olah, E., Olopade, O. I., Olson, J. E., Olswold, C., O'Malley, D., Orlow, I., Orr, N., Osorio, A., Park, S. K., Pearce, C. L., Pejovic, T., Peterlongo, P., Pfeiler, G., Phelan, C. M., Poole, E. M., Pylkäs, K., Radice, P., Rantala, J., Rashid, M. U., Rennert, G., Rhenius, V., Rhiem, K., Risch, H. A., Rodriguez, G., Rossing, M. A., Rudolph, A., Salvesen, H. B., Sangrajrang, S., Sawyer, E. J., Schildkraut, J. M., Schmidt, M. K., Schmutzler, R. K., Sellers, T. A., Seynaeve, C., Shah, M., Shen, C. Y., Shu, X. O., Sieh, W., Singer, C. F., Sinilnikova, O. M., Slager, S., Song, H., Soucy, P., Southey, M. C., Stenmark-Askmalm, M., Stoppa-Lyonnet, D., Sutter, C., Swerdlow, A., Tchatchou, S., Teixeira, M. R., Teo, S. H., Terry, K. L., Terry, M. B., Thomassen, M., Tibiletti, M. G., Tihomirova, L., Tognazzo, S., Toland, A. E., Tomlinson, I., Torres, D., Truong, T., Tseng, C. C., Tung, N., Tworoger, S. S., Vachon, C., Van Den Ouweland, A. M. W., Van Doorn, H. C., Van Rensburg, E. J., Van't Veer, L. J., Vanderstichele, A., Vergote, I., Vijai, J., Wang, Q., Wang-Gohrke, S., Weitzel, J. N., Wentzensen, N., Whittemore, A. S., Wildiers, H., Winqvist, R., Wu, A. H., Yannoukakos, D., Yoon, S. Y., Yu, J. C., Zheng, W., Zheng, Y., Khanna, K. K., Simard, J., Monteiro, A. N., French, J. D., Couch, F. J., Freedman, M. L., Easton, D. F., Dunning, A. M., Pharoah, P. D., Edwards, S. L., Chenevix-Trench, G., Antoniou, A. C., Gayther, S. A., Bowtell, D., DeFazio, A., Webb, P., Collonge-Rame, M. A., Damette, A., Barouk-Simonet, E., Bonnet, F., Bubien, V., Sevenet, N., Longy, M., Berthet, P., Vaur, D., Castera, L., Ferrer, S. F., Bignon, Y. J., Uhrhammer, N., Coron, F., Faivre, L., Baurand, A., Jacquot, C., Bertolone, G., Lizard, S., Leroux, D., Dreyfus, H., Rebischung, C., Peysselon, M., Peyrat, J. P., Fournier, J., Révillion, F., Adenis, C., Vénat-Bouvet, L., Léone, M., Boutry-Kryza, N., Calender, A., Giraud, S., Verny-Pierre, C., Lasset, C., Bonadona, V., Barjhoux, L., Sobol, H., Bourdon, V., Noguchi, T., Remenieras, A., Coupier, I., Pujol, P., Sokolowska, J., Bronner, M., Delnatte, C., Bézieau, S., Mari, V., Gauthier-Villars, M., Buecher, B., Rouleau, E., Golmard, L., Moncoutier, V., Belotti, M., De Pauw, A., Elan, C., Fourme, E., Birot, A. M., Saule, C., Laurent, M., Houdayer, C., Lesueur, F., Mebirouk, N., Coulet, F., Colas, C., Soubrier, F., Warcoin, M., Prieur, F., Lebrun, M., Kientz, C., Muller, D., Fricker, J. P., Toulas, C., Guimbaud, R., Gladieff, L., Feillel, V., Mortemousque, I., Bressac-De-Paillerets, B., Caron, O., Guillaud-Bataille, M., Gregory, H., Miedzybrodzka, Z., Morrison, P. J., Donaldson, A., Rogers, M. T., Kennedy, M. J., Porteous, M. E., Brady, A., Barwell, J., Foo, C., Lalloo, F., Side, L. E., Eason, J., Henderson, A., Walker, L., Cook, J., Snape, K., Murray, A., McCann, E., Rookus, M. A., Van Leeuwen, F. E., Van Der Kolk, L. E., Schmidt, M. K., Russell, N. S., De Lange, J. L., Wijnands, R., Collée, J. M., Hooning, M. J., Seynaeve, C., Van Deurzen, C. H. M., Obdeijn, I. M., Van Asperen, C. J., Tollenaar, R. A. E. M., Van Cronenburg, T. C. T. E. F., Kets, C. M., Ausems, M. G. E. M., Van Der Pol, C. C., Van Os, T. A. M., Waisfisz, Q., Meijers-Heijboer, H. E. J., Gómez-Garcia, E. B., Oosterwijk, J. C., Mourits, M. J., De Bock, G. H., Vasen, H. F., Siesling, S., Verloop, J., Overbeek, L. I. H., Fox, S., Kirk, J., Lindeman, G. & Price, M., 2016 Sep 7, In : Nature Communications. 7, 12675.

    Research output: Contribution to journalArticle

  93. Leukemic stem cell quantification in newly diagnosed chronic myeloid leukemia patients predicts response to nilotinib therapy

    Thielen, N., Johan Richter, Baldauf, M., Barbany, G., Thoas Fioretos, Giles, F., Gjertsen, B. T., Hochhaus, A., Schuurhuis, G. J., Sopper, S., Stenke, L., Thunberg, S., Wolf, D., Ossenkoppele, G., Porkka, K., Janssen, J. & Mustjoki, S., 2016 Aug 15, In : Clinical Cancer Research. 22, 16, p. 4030-4038 9 p.

    Research output: Contribution to journalArticle

  94. No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer

    Hollestelle, A., Van Der Baan, F. H., Berchuck, A., Johnatty, S. E., Aben, K. K., Agnarsson, B. A., Aittomäki, K., Alducci, E., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Antoniou, A. C., Apicella, C., Arndt, V., Arnold, N., Arun, B. K., Arver, B., Ashworth, A., Baglietto, L., Balleine, R. & 343 others, Bandera, E. V., Barrowdale, D., Bean, Y. T., Beckmann, L., Beckmann, M. W., Benitez, J., Berger, A., Berger, R., Beuselinck, B., Bisogna, M., Bjorge, L., Blomqvist, C., Bogdanova, N. V., Bojesen, A., Bojesen, S. E., Bolla, M. K., Bonanni, B., Brand, J. S., Brauch, H., Brenner, H., Brinton, L., Brooks-Wilson, A., Bruinsma, F., Brunet, J., Brüning, T., Budzilowska, A., Bunker, C. H., Burwinkel, B., Butzow, R., Buys, S. S., Caligo, M. A., Campbell, I., Carter, J., Chang-Claude, J., Chanock, S. J., Claes, K. B. M., Collée, J. M., Cook, L. S., Couch, F. J., Cox, A., Cramer, D., Cross, S. S., Cunningham, J. M., Cybulski, C., Czene, K., Damiola, F., Dansonka-Mieszkowska, A., Darabi, H., De La Hoya, M., Defazio, A., Dennis, J., Devilee, P., Dicks, E. M., Diez, O., Doherty, J. A., Domchek, S. M., Dorfling, C. M., Dörk, T., Silva, I. D. S., Du Bois, A., Dumont, M., Dunning, A. M., Duran, M., Easton, D. F., Eccles, D., Edwards, R. P., Hans Ehrencrona, Ejlertsen, B., Ekici, A. B., Ellis, S. D., Engel, C., Eriksson, M., Fasching, P. A., Feliubadalo, L., Figueroa, J., Flesch-Janys, D., Fletcher, O., Fontaine, A., Fortuzzi, S., Fostira, F., Fridley, B. L., Friebel, T., Friedman, E., Friel, G., Frost, D., Garber, J., García-Closas, M., Gayther, S. A., Gentry-Maharaj, A., Gerdes, A. M., Giles, G. G., Glasspool, R., Glendon, G., Godwin, A. K., Goodman, M. T., Gore, M., Greene, M. H., Grip, M., Gronwald, J., Gschwantler Kaulich, D., Guénel, P., Guzman, S. R., Haeberle, L., Haiman, C. A., Hall, P., Halverson, S. L., Hamann, U., Hansen, T. V. O., Harter, P., Hartikainen, J. M., Healey, S., Hein, A., Heitz, F., Henderson, B. E., Herzog, J., T Hildebrandt, M. A., Høgdall, C. K., Høgdall, E., Hogervorst, F. B. L., Hopper, J. L., Humphreys, K., Huzarski, T., Imyanitov, E. N., Isaacs, C., Jakubowska, A., Janavicius, R., Jaworska, K., Jensen, A., Jensen, U. B., Johnson, N., Jukkola-Vuorinen, A., Kabisch, M., Karlan, B. Y., Kataja, V., Kauff, N., Kelemen, L. E., Kerin, M. J., Kiemeney, L. A., Kjaer, S. K., Knight, J. A., Knol-Bout, J. P., Konstantopoulou, I., Kosma, V. M., Krakstad, C., Kristensen, V., Kuchenbaecker, K. B., Kupryjanczyk, J., Laitman, Y., Lambrechts, D., Lambrechts, S., Larson, M. C., Lasa, A., Laurent-Puig, P., Lazaro, C., Le, N. D., Le Marchand, L., Leminen, A., Lester, J., Levine, D. A., Li, J., Liang, D., Lindblom, A., Lindor, N., Lissowska, J., Long, J., Lu, K. H., Lubinski, J., Lundvall, L., Lurie, G., Mai, P. L., Mannermaa, A., Margolin, S., Mariette, F., Marme, F., Martens, J. W. M., Massuger, L. F. A. G., Maugard, C., Mazoyer, S., McGuffog, L., McGuire, V., McLean, C., McNeish, I., Meindl, A., Menegaux, F., Menéndez, P., Menkiszak, J., Menon, U., Mensenkamp, A. R., Miller, N., Milne, R. L., Modugno, F., Montagna, M., Moysich, K. B., Müller, H., Mulligan, A. M., Muranen, T. A., Narod, S. A., Nathanson, K. L., Ness, R. B., Neuhausen, S. L., Nevanlinna, H., Neven, P., Nielsen, F. C., Nielsen, S. F., Nordestgaard, B. G., Nussbaum, R. L., Odunsi, K., Offit, K., Olah, E., Olopade, O. I., Olson, J. E., Olson, S. H., Oosterwijk, J. C., Orlow, I., Orr, N., Orsulic, S., Osorio, A., Ottini, L., Paul, J., Pearce, C. L., Pedersen, I. S., Peissel, B., Pejovic, T., Pelttari, L. M., Perkins, J., Permuth-Wey, J., Peterlongo, P., Peto, J., Phelan, C. M., Phillips, K. A., Piedmonte, M., Pike, M. C., Platte, R., Plisiecka-Halasa, J., Poole, E. M., Poppe, B., Pylkäs, K., Radice, P., Ramus, S. J., Rebbeck, T. R., Reed, M. W. R., Rennert, G., Risch, H. A., Robson, M., Rodriguez, G. C., Romero, A., Rossing, M. A., Rothstein, J. H., Rudolph, A., Runnebaum, I., Salani, R., Salvesen, H. B., Sawyer, E. J., Schildkraut, J. M., Schmidt, M. K., Schmutzler, R. K., Schneeweiss, A., Schoemaker, M. J., Schrauder, M. G., Schumacher, F., Schwaab, I., Scuvera, G., Sellers, T. A., Severi, G., Seynaeve, C. M., Shah, M., Shrubsole, M., Siddiqui, N., Sieh, W., Simard, J., Singer, C. F., Sinilnikova, O. M., Smeets, D., Sohn, C., Soller, M., Song, H., Soucy, P., Southey, M. C., Stegmaier, C., Stoppa-Lyonnet, D., Sucheston, L., Swerdlow, A., Tangen, I. L., Tea, M. K., Teixeira, M. R., Terry, K. L., Terry, M. B., Thomassen, M., Thompson, P. J., Tihomirova, L., Tischkowitz, M., Toland, A. E., Tollenaar, R. A. E. M., Tomlinson, I., Torres, D., Truong, T., Tsimiklis, H., Tung, N., Tworoger, S. S., Tyrer, J. P., Vachon, C. M., Van 't Veer, L. J., Van Altena, A. M., Van Asperen, C. J., Van Den Berg, D., Van Den Ouweland, A. M. W., Van Doorn, H. C., Van Nieuwenhuysen, E., Van Rensburg, E. J., Vergote, I., Verhoef, S., Vierkant, R. A., Vijai, J., Vitonis, A. F., Von Wachenfeldt, A., Walsh, C., Wang, Q., Wang-Gohrke, S., Wappenschmidt, B., Weischer, M., Weitzel, J. N., Weltens, C., Wentzensen, N., Whittemore, A. S., Wilkens, L. R., Winqvist, R., Wu, A. H., Wu, X., Yang, H. P., Zaffaroni, D., Pilar Zamora, M., Zheng, W., Ziogas, A., Chenevix-Trench, G., Pharoah, P. D. P., Rookus, M. A., Hooning, M. J., Goode, E. L., Breast Cancer Family Register, C. F. R., EMBRACE, GENICA Network, N., HEBON & SWE-BRCA, 2016 May 1, In : Gynecologic Oncology. 141, 2, p. 386-401 16 p.

    Research output: Contribution to journalArticle

  95. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

    Couch, F. J., Kuchenbaecker, K. B., Michailidou, K., Mendoza-Fandino, G. A., Nord, S., Lilyquist, J., Olswold, C., Hallberg, E., Agata, S., Ahsan, H., Aittomäki, K., Ambrosone, C., Andrulis, I. L., Anton-Culver, H., Arndt, V., Arun, B. K., Arver, B., Barile, M., Barkardottir, R. B., Barrowdale, D. & 229 others, Beckmann, L., Beckmann, M. W., Benitez, J., Blank, S. V., Blomqvist, C., Bogdanova, N. V., Bojesen, S. E., Bolla, M. K., Bonanni, B., Brauch, H., Brenner, H., Burwinkel, B., Buys, S., Caldes, T., Caligo, M. A., Canzian, F., Carpenter, J., Chang-Claude, J., Chanock, S. J., Chung, W. K., Claes, K. B. M., Cox, A., Cross, S. S., Cunningham, J. M., Czene, K., Daly, M. B., Damiola, F., Darabi, H., de la Hoya, M., Devilee, P., Diez, O., Ding, Y. C., Dolcetti, R., Domchek, S. M., Dorfling, C. M., Dos Santos Silva, I., Dumont, M., Dunning, A. M., Eccles, D. M., Hans Ehrencrona, Ekici, A. B., Eliassen, A. H., Ellis, S., Fasching, P. A., Figueroa, J., Flesch-Janys, D., Asta Försti, Fostira, F., Foulkes, W. D., Friebel, T., Friedman, E., Frost, D., Gabrielson, M., Gammon, M. D., Ganz, P. A., Gapstur, S. M., Garber, J., Gaudet, M., Gayther, S. A., Gerdes, A-M., Ghoussaini, M., Giles, G. G., Glendon, G., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., González-Neira, A., Greene, M. H., Gronwald, J., Guénel, P., Gunter, M., Haeberle, L., Haiman, C. A., Hamann, U., Hansen, T. V. O., Hart, S., Healey, S., Heikkinen, T., Henderson, B. E., Herzog, J., Hogervorst, F. B. L., Hollestelle, A., Hooning, M. J., Hoover, R. N., Hopper, J. L., Humphreys, K., Hunter, D. J., Huzarski, T., Imyanitov, E. N., Isaacs, C., Jakubowska, A., James, P., Janavicius, R., Jensen, U. B., John, E. M., Jones, M., Kabisch, M., Kar, S., Karlan, B. Y., Khan, S., Khaw, K. T., Kibriya, M. G., Knight, J. A., Ko, Y-D., Konstantopoulou, I., Kosma, V-M., Kristensen, V., Kwong, A., Laitman, Y., Lambrechts, D., Lazaro, C., Lee, E., Le Marchand, L., Lester, J., Lindblom, A., Lindor, N., Lindstrom, S., Liu, J., Long, J., Lubinski, J., Mai, P. L., Makalic, E., Malone, K. E., Mannermaa, A., Manoukian, S., Margolin, S., Marme, F., Martens, J. W. M., McGuffog, L., Meindl, A., Miller, A., Milne, R. L., Miron, P., Montagna, M., Mazoyer, S., Mulligan, A. M., Muranen, T. A., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Nordestgaard, B. G., Nussbaum, R. L., Offit, K., Olah, E., Olopade, O. I., Olson, J. E., Osorio, A., Park, S. K., Peeters, P. H., Peissel, B., Peterlongo, P., Peto, J., Phelan, C. M., Pilarski, R., Poppe, B., Pylkäs, K., Radice, P., Rahman, N., Rantala, J., Rappaport, C., Rennert, G., Richardson, A. L., Robson, M., Romieu, I., Rudolph, A., Rutgers, E. J., Sanchez, M-J., Santella, R. M., Sawyer, E. J., Schmidt, D. F., Schmidt, M. K., Schmutzler, R. K., Schumacher, F., Scott, R., Senter, L., Sharma, P., Simard, J., Singer, C. F., Sinilnikova, O. M., Soucy, P., Southey, M., Steinemann, D., Stenmark-Askmalm, M., Stoppa-Lyonnet, D., Swerdlow, A., Szabo, C. I., Tamimi, R., Tapper, W., Teixeira, M. R., Teo, S-H., Terry, M. B., Thomassen, M., Thompson, D., Tihomirova, L., Toland, A. E., Tollenaar, R. A. E. M., Tomlinson, I., Truong, T., Tsimiklis, H., Teulé, A., Tumino, R., Tung, N., Turnbull, C., Ursin, G., van Deurzen, C. H. M., van Rensburg, E. J., Varon-Mateeva, R., Wang, Z., Wang-Gohrke, S., Weiderpass, E., Weitzel, J. N., Whittemore, A. S., Wildiers, H., Winqvist, R., Yang, X. R., Yannoukakos, D., Yao, S., Zamora, M. P., Zheng, W., Hall, P., Kraft, P., Vachon, C., Slager, S., Chenevix-Trench, G., Pharoah, P. P. D., Monteiro, A. N., García-Closas, M., Easton, D. F. & Antoniou, A. C., 2016 Apr 27, In : Nature Communications. 7, 11375.

    Research output: Contribution to journalArticle

  96. FN1-EGF gene fusions are recurrent in calcifying aponeurotic fibroma.

    Puls, F., Jakob Hofvander, Magnusson, L., Nilsson, J., Haywood, E., Sumathi, V. P., Mangham, D. C., Kindblom, L-G. & Fredrik Mertens, 2016, In : Journal of Pathology. 238, 4, p. 502-507

    Research output: Contribution to journalArticle

  97. Primary Pseudomyogenic Hemangioendothelioma of Bone.

    Inyang, A., Fredrik Mertens, Puls, F., Sumathi, V., Inwards, C., Folpe, A., Lee, C-H., Zhang, Y., Symmans, P., Rubin, B., Nielsen, G. P., Nguyen, V-H. & Rosenberg, A. E., 2016, In : American Journal of Surgical Pathology. 40, 5, p. 587-598

    Research output: Contribution to journalArticle

  98. L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains.

    Christaller, W. A. A., Vos, Y., Samuel Gebre-Medhin, Hofstra, R. M. W. & Schäfer, M. K. E., 2016, In : Clinical Genetics.

    Research output: Contribution to journalArticle

  99. Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

    Dunning, A. M., Michailidou, K., Kuchenbaecker, K. B., Thompson, D., French, J. D., Beesley, J., Healey, C. S., Kar, S., Pooley, K. A., Lopez-Knowles, E., Dicks, E., Barrowdale, D., Sinnott-Armstrong, N. A., Sallari, R. C., Hillman, K. M., Kaufmann, S., Sivakumaran, H., Marjaneh, M. M., Lee, J. S., Hills, M. & 228 others, Jarosz, M., Drury, S., Canisius, S., Bolla, M. K., Dennis, J., Wang, Q., Hopper, J. L., Southey, M. C., Broeks, A., Schmidt, M. K., Lophatananon, A., Muir, K., Beckmann, M. W., Fasching, P. A., Dos Santos Silva, G., Peto, J., Sawyer, E. J., Tomlinson, I., Burwinkel, B., Marme, F., Guénel, P., Truong, T., Bojesen, S. E., Flyger, H., González-Neira, A., Perez, J. I. A., Anton-Culver, H., Eunjung, L., Arndt, V., Brenner, H., Meindl, A., Schmutzler, R. K., Brauch, H., Hamann, U., Aittomäki, K., Blomqvist, C., Ito, H., Matsuo, K., Bogdanova, N., Dörk, T., Lindblom, A., Margolin, S., Kosma, V-M., Mannermaa, A., Tseng, C-C., Wu, A. H., Lambrechts, D., Wildiers, H., Chang-Claude, J., Rudolph, A., Peterlongo, P., Radice, P., Olson, J. E., Giles, G. G., Milne, R. L., Haiman, C. A., Henderson, B. E., Goldberg, M. S., Teo, S. H., Yip, C. H., Nord, S., Borresen-Dale, A-L., Kristensen, V., Long, J., Zheng, W., Pylkäs, K., Winqvist, R., Andrulis, I. L., Knight, J. A., Devilee, P., Seynaeve, C., Figueroa, J., Sherman, M. E., Czene, K., Darabi, H., Hollestelle, A., van den Ouweland, A. M. W., Humphreys, K., Gao, Y-T., Shu, X-O., Cox, A., Cross, S. S., Blot, W., Cai, Q., Ghoussaini, M., Perkins, B. J., Shah, M., Choi, J-Y., Kang, D., Lee, S. C., Hartman, M., Kabisch, M., Torres, D., Jakubowska, A., Lubinski, J., Brennan, P., Sangrajrang, S., Ambrosone, C. B., Toland, A. E., Shen, C-Y., Wu, P-E., Orr, N., Swerdlow, A., McGuffog, L., Healey, S., Lee, A., Kapuscinski, M., John, E. M., Terry, M. B., Daly, M. B., Goldgar, D. E., Buys, S. S., Janavicius, R., Tihomirova, L., Tung, N., Dorfling, C. M., van Rensburg, E. J., Neuhausen, S. L., Ejlertsen, B., Hansen, T. V. O., Osorio, A., Benitez, J., Rando, R., Weitzel, J. N., Bonanni, B., Peissel, B., Manoukian, S., Papi, L., Ottini, L., Konstantopoulou, I., Apostolou, P., Garber, J., Rashid, M. U., Frost, D., Izatt, L., Ellis, S., Godwin, A. K., Arnold, N., Niederacher, D., Rhiem, K., Bogdanova-Markov, N., Sagne, C., Stoppa-Lyonnet, D., Damiola, F., Sinilnikova, O. M., Mazoyer, S., Isaacs, C., Claes, K. B. M., De Leeneer, K., de la Hoya, M., Caldes, T., Nevanlinna, H., Khan, S., Mensenkamp, A. R., Hooning, M. J., Rookus, M. A., Kwong, A., Olah, E., Diez, O., Brunet, J., Pujana, M. A., Gronwald, J., Huzarski, T., Barkardottir, R. B., Laframboise, R., Soucy, P., Montagna, M., Agata, S., Teixeira, M. R., Park, S. K., Lindor, N., Couch, F. J., Tischkowitz, M., Foretova, L., Vijai, J., Offit, K., Singer, C. F., Rappaport, C., Phelan, C. M., Greene, M. H., Mai, P. L., Rennert, G., Imyanitov, E. N., Hulick, P. J., Phillips, K-A., Piedmonte, M., Mulligan, A. M., Glendon, G., Bojesen, A., Thomassen, M., Caligo, M. A., Yoon, S-Y., Friedman, E., Laitman, Y., Borg, A., von Wachenfeldt, A., Hans Ehrencrona, Rantala, J., Olopade, O. I., Ganz, P. A., Nussbaum, R. L., Gayther, S. A., Nathanson, K. L., Domchek, S. M., Arun, B. K., Mitchell, G., Karlan, B. Y., Lester, J., Maskarinec, G., Woolcott, C., Scott, C., Stone, J., Apicella, C., Tamimi, R., Luben, R., Khaw, K-T., Helland, Å., Haakensen, V., Dowsett, M., Pharoah, P. D. P., Simard, J., Hall, P., García-Closas, M., Vachon, C., Chenevix-Trench, G., Antoniou, A. C., Easton, D. F. & Edwards, S. L., 2016, In : Nature Genetics.

    Research output: Contribution to journalArticle

  100. Neuroblastoma patient-derived orthotopic xenografts reflect the microenvironmental hallmarks of aggressive patient tumours

    Braekeveldt, N., Wigerup, C., Tadeo, I., Beckman, S., Caroline Sandén, Jönsson, J., Jonas S Erjefält, Berbegall, A. P., Anna Börjesson, Backman, T., Ingrid Øra, Navarro, S., Noguera, R., David Gisselsson, Sven Påhlman & Daniel Bexell, 2016, In : Cancer Letters. 375, 2, p. 384-389

    Research output: Contribution to journalArticle

  101. Single nucleotide polymorphism array analysis of clonal evolution in younger adult acute lymphoblastic leukemia

    Dirse, V., Gineikiene, E., Zvirblis, T., Bertasiute, R., Kajsa Paulsson & Griskevicius, L., 2016, In : Leukemia & Lymphoma. 57, 11, p. 2716-2719 4 p.

    Research output: Contribution to journalArticle

  102. Core Circadian Clock Genes Regulate Leukemia Stem Cells in AML

    Puram, R. V., Kowalczyk, M. S., de Boer, C. G., Schneider, R. K., Miller, P. G., McConkey, M., Tothova, Z., Tejero, H., Heckl, D., Marcus Järås, Chen, M. C., Li, H., Tamayo, A., Cowley, G. S., Rozenblatt-Rosen, O., Al-Shahrour, F., Regev, A. & Ebert, B. L., 2016, In : Cell. 165, 2, p. 303-16 14 p.

    Research output: Contribution to journalArticle

  103. Detailed gene dose analysis reveals recurrent focal gene deletions in pediatric B-cell precursor acute lymphoblastic leukemia

    Ivanov Öfverholm, I., Tran, A. N., Linda Olsson, Zachariadis, V., Heyman, M., Rudd, E., Syk Lundberg, E., Nordenskjöld, M., Bertil Johansson, Nordgren, A. & Barbany, G., 2016, In : Leukemia & Lymphoma. 57, 9, p. 2161-2170 10 p.

    Research output: Contribution to journalArticle

  104. Omission of doxorubicin from the treatment of stage II-III, intermediate-risk Wilms' tumour (SIOP WT 2001): an open-label, non-inferiority, randomised controlled trial

    Pritchard-Jones, K., Bergeron, C., de Camargo, B., van den Heuvel-Eibrink, M. M., Acha, T., Godzinski, J., Oldenburger, F., Boccon-Gibod, L., Leuschner, I., Vujanic, G., Sandstedt, B., de Kraker, J., van Tinteren, H., Graf, N., Ingrid Øra & SIOP Renal Tumours Study Group, 2015 Sep 19, In : The Lancet. 386, 9999, p. 1156-64

    Research output: Contribution to journalArticle

  105. Lenalidomide induces ubiquitination and degradation of CK1α in del(5q) MDS

    Krönke, J., Fink, E. C., Hollenbach, P. W., MacBeth, K. J., Hurst, S. N., Udeshi, N. D., Chamberlain, P. P., Mani, D. R., Man, H. W., Gandhi, A. K., Svinkina, T., Schneider, R. K., McConkey, M., Järås, M., Griffiths, E., Wetzler, M., Bullinger, L., Cathers, B. E., Carr, S. A., Chopra, R. & 1 others, Ebert, B. L., 2015 Jul 9, In : Nature. 523, 7559, p. 183-188

    Research output: Contribution to journalArticle

  106. Identification of six new susceptibility loci for invasive epithelial ovarian cancer

    Kuchenbaecker, K. B., Ramus, S. J., Tyrer, J., Lee, A., Shen, H. C., Beesley, J., Lawrenson, K., McGuffog, L., Healey, S., Lee, J. M., Spindler, T. J., Lin, Y. G., Pejovic, T., Bean, Y., Li, Q., Coetzee, S., Hazelett, D., Miron, A., Southey, M., Terry, M. B. & 31 others, Goldgar, D. E., Buys, S. S., Janavicius, R., Dorfling, C. M., van Rensburg, E. J., Neuhausen, S. L., Ding, Y. C., Hansen, T. V. O., Jønson, L., Gerdes, A-M., Ejlertsen, B., Barrowdale, D., Dennis, J., Benitez, J., Osorio, A., Garcia, M. J., Komenaka, I., Weitzel, J. N., Ganschow, P., Peterlongo, P., Bernard, L., Viel, A., Bonanni, B., Peissel, B., Manoukian, S., Radice, P., Papi, L., Ottini, L., Soller, M., Stenmark-Askmalm, M. & EMBRACE, 2015 Feb, In : Nature Genetics. 47, 2, p. 164-71 8 p.

    Research output: Contribution to journalArticle

  107. A Population-Based Single Nucleotide Polymorphism Array Analysis of Genomic Aberrations in Younger Adult Acute Lymphoblastic Leukemia Patients

    Dirse, V., Bertasiute, A., Gineikiene, E., Zvirblis, T., Dambrauskiene, R., Gerbutavicius, R., Juozaityte, E., Malciute, L., Kajsa Paulsson & Griskevicius, L., 2015, In : Genes, Chromosomes and Cancer. 54, 5, p. 326-333

    Research output: Contribution to journalArticle

  108. The gynecological surveillance of women with Lynch syndrome in Sweden.

    Tzortzatos, G., Andersson, E., Soller, M., Askmalm, M. S., Zagoras, T., Georgii-Hemming, P., Lindblom, A., Tham, E. & Mints, M., 2015, In : Gynecologic Oncology. 138, 3, p. 717-722

    Research output: Contribution to journalArticle

  109. Recurrent PRDM10 Gene Fusions in Undifferentiated Pleomorphic Sarcoma.

    Jakob Hofvander, Tayebwa, J., Nilsson, J., Magnusson, L., Brosjö, O., Larsson, O. L., Fredrik Vult von Steyern, Mandahl, N., Fletcher, C. & Fredrik Mertens, 2015, In : Clinical Cancer Research. 21, 4, p. 864-869

    Research output: Contribution to journalArticle

  110. Failure matters: unsuccessful cytogenetics and unperformed cytogenetics are associated with a poor prognosis in a population-based series of acute myeloid leukaemia.

    Lazarevic, V., Hörstedt, A., Bertil Johansson, Antunovic, P., Billström, R., Derolf, A., Lehmann, S., Möllgård, L., Peterson, S., Stockelberg, D., Uggla, B., Vennström, L., Wahlin, A., Höglund, M. & Gunnar Juliusson, 2015, In : European Journal of Haematology. 94, 5, p. 419-423

    Research output: Contribution to journalArticle

  111. Prognostic significance of high hyperdiploid and tri-/tetraploid adult acute myeloid leukemia.

    Lazarevic, V., Aldana Rosso, Gunnar Juliusson, Antunovic, P., Rangert-Derolf, Å., Lehmann, S., Möllgård, L., Uggla, B., Wennström, L., Wahlin, A., Höglund, M. & Bertil Johansson, 2015, In : American Journal of Hematology. 90, 9, p. 800-805

    Research output: Contribution to journalArticle

  112. The landscape of somatic mutations in infant MLL-rearranged acute lymphoblastic leukemias.

    Andersson, A., Ma, J., Wang, J., Chen, X., Gedman, A. L., Dang, J., Nakitandwe, J., Holmfeldt, L., Parker, M., Easton, J., Huether, R., Kriwacki, R., Rusch, M., Wu, G., Li, Y., Mulder, H., Raimondi, S., Pounds, S., Kang, G., Shi, L. & 30 others, Becksfort, J., Gupta, P., Payne-Turner, D., Vadodaria, B., Boggs, K., Yergeau, D., Manne, J., Song, G., Edmonson, M., Nagahawatte, P., Wei, L., Cheng, C., Pei, D., Sutton, R., Venn, N. C., Chetcuti, A., Rush, A., Catchpoole, D., Heldrup, J., Thoas Fioretos, Lu, C., Ding, L., Pui, C-H., Shurtleff, S., Mullighan, C. G., Mardis, E. R., Wilson, R. K., Gruber, T. A., Zhang, J. & Downing, J. R., 2015, In : Nature Genetics. 47, 4, p. 330-U192

    Research output: Contribution to journalArticle

  113. Dasatinib induces fast and deep responses in newly diagnosed chronic myeloid leukaemia patients in chronic phase: clinical results from a randomised phase-2 study (NordCML006)

    Hjorth-Hansen, H., Stenke, L., Soderlund, S., Dreimane, A., Hans Ehrencrona, Gedde-Dahl, T., Gjertsen, B. T., Hoglund, M., Koskenvesa, P., Lotfi, K., Majeed, W., Markevarn, B., Ohm, L., Olsson-Stromberg, U., Remes, K., Suominen, M., Simonsson, B., Porkka, K., Mustjoki, S. & Johan Richter, 2015, In : European Journal of Haematology. 94, 3, p. 243-250

    Research output: Contribution to journalArticle

  114. RNA sequencing of sarcomas with simple karyotypes: identification and enrichment of fusion transcripts.

    Jakob Hofvander, Tayebwa, J., Nilsson, J., Magnusson, L., Brosjö, O., Larsson, O., Fredrik Vult von Steyern, Domanski, H., Nils Mandahl & Fredrik Mertens, 2015, In : Laboratory Investigation. 95, 6, p. 603-609

    Research output: Contribution to journalArticle

  115. Acute Traumatic Brain Injury Mortality in the elderly.

    Erik Herou, Romner, B. & Tomasevic, G., 2015, In : Surgical Neurology. 83, 6, p. 996-1001

    Research output: Contribution to journalArticle

  116. Ring chromosomes, breakpoint clusters, and neocentromeres in sarcomas.

    Macchia, G., Karolin Hansén Nord, Zoli, M., Purgato, S., D'Addabbo, P., Whelan, C. W., Carbone, L., Perini, G., Fredrik Mertens, Rocchi, M. & Storlazzi, C. T., 2015, In : Genes, Chromosomes and Cancer. 54, 3, p. 156-167

    Research output: Contribution to journalArticle

  117. Protein expression of BIRC5, TK1, and TOP2A in malignant peripheral nerve sheath tumours - A prognostic test after surgical resection.

    Kolberg, M., Høland, M., Lind, G. E., Ågesen, T. H., Skotheim, R. I., Sundby Hall, K., Nils Mandahl, Smeland, S., Fredrik Mertens, Davidson, B. & Lothe, R. A., 2015, In : Molecular Oncology. 9, 6, p. 1129-1139

    Research output: Contribution to journalArticle

  118. Gene fusion detection in formalin-fixed paraffin-embedded benign fibrous histiocytomas using fluorescence in situ hybridization and RNA sequencing.

    Charles Walther, Jakob Hofvander, Nilsson, J., Magnusson, L., Domanski, H., David Gisselsson Nord, Tayebwa, J., Doyle, L. A., Fletcher, C. D. & Fredrik Mertens, 2015, In : Laboratory Investigation. 95, 9, p. 1071-1076

    Research output: Contribution to journalArticle

  119. Neuroblastoma Patient-Derived Orthotopic Xenografts Retain Metastatic Patterns and Geno- and Phenotypes of Patient Tumours.

    Braekeveldt, N., Wigerup, C., David Gisselsson Nord, Sofie Mohlin, Merselius, M., Beckman, S., Tord Jonson, Anna Börjesson, Backman, T., Tadeo, I., Berbegall, A. P., Ingrid Øra, Navarro, S., Noguera, R., Sven Påhlman & Daniel Bexell, 2015, In : International Journal of Cancer. 136, 5, p. E252-E261

    Research output: Contribution to journalArticle

  120. Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.

    Peterlongo, P., Chang-Claude, J., Moysich, K. B., Rudolph, A., Schmutzler, R. K., Simard, J., Soucy, P., Eeles, R. A., Easton, D. F., Hamann, U., Wilkening, S., Chen, B., Rookus, M. A., Schmidt, M. K., van der Baan, F. H., Spurdle, A. B., Walker, L. C., Lose, F., Maia, A-T., Montagna, M. & 181 others, Matricardi, L., Lubinski, J., Jakubowska, A., Gomez-Garcia, E. B., Olopade, O. I., Nussbaum, R. L., Nathanson, K. L., Domchek, S. M., Rebbeck, T. R., Arun, B. K., Karlan, B. Y., Orsulic, S., Lester, J., Chung, W. K., Miron, A., Southey, M. C., Goldgar, D. E., Buys, S. S., Janavicius, R., Dorfling, C. M., van Rensburg, E. J., Ding, Y. C., Neuhausen, S. L., Hansen, T. V. O., Gerdes, A-M., Ejlertsen, B., Jønson, L., Osorio, A., Martinez-Bouzas, C., Benitez, J., Conway, E. E., Blazer, K. R., Weitzel, J. N., Manoukian, S., Peissel, B., Zaffaroni, D., Scuvera, G., Barile, M., Ficarazzi, F., Mariette, F., Fortuzzi, S., Viel, A., Giannini, G., Papi, L., Martayan, A., Tibiletti, M. G., Radice, P., Vratimos, A., Fostira, F., Garber, J. E., Donaldson, A., Brewer, C., Foo, C., Evans, D. G. R., Frost, D., Eccles, D., Brady, A., Cook, J., Tischkowitz, M., Adlard, J., Barwell, J., Walker, L., Izatt, L., Side, L. E., Kennedy, M. J., Rogers, M. T., Porteous, M. E., Morrison, P. J., Platte, R., Davidson, R., Hodgson, S. V., Ellis, S., Cole, T., Godwin, A. K., Claes, K., Van Maerken, T., Meindl, A., Gehrig, A., Sutter, C., Engel, C., Niederacher, D., Steinemann, D., Plendl, H., Kast, K., Rhiem, K., Ditsch, N., Arnold, N., Varon-Mateeva, R., Wappenschmidt, B., Wang-Gohrke, S., Bressac-de Paillerets, B., Buecher, B., Delnatte, C., Houdayer, C., Stoppa-Lyonnet, D., Damiola, F., Coupier, I., Barjhoux, L., Venat-Bouvet, L., Golmard, L., Boutry-Kryza, N., Sinilnikova, O. M., Caron, O., Pujol, P., Mazoyer, S., Belotti, M., Piedmonte, M., Friedlander, M. L., Rodriguez, G. C., Copeland, L. J., de la Hoya, M., Perez Segura, P., Nevanlinna, H., Aittomäki, K., van Os, T. A. M., Meijers-Heijboer, H. E. J., Van der Hout, A. H., Vreeswijk, M. P. G., Hoogerbrugge, N., Ausems, M. G. E. M., Van Doorn, H. C., Collée, J. M., Olah, E., Díez, O., Blanco, I., Lazaro, C., Brunet, J., Feliubadaló, L., Cybulski, C., Gronwald, J., Durda, K., Jaworska-Bieniek, K., Sukiennicki, G., Arason, A., Chiquette, J., Teixeira, M. R., Olswold, C., Couch, F. J., Lindor, N. M., Wang, X., Szabo, C. I., Offit, K., Corines, M., Jacobs, L., Robson, M., Zhang, L., Joseph, V., Berger, A., Singer, C. F., Rappaport, C., Geschwantler Kaulich, D., Pfeiler, G., Tea, M-K. M., Phelan, C. M., Greene, M. H., Mai, P. L., Rennert, G., Mulligan, A. M., Glendon, G., Tchatchou, S., Andrulis, I. L., Toland, A. E., Bojesen, A., Pedersen, I. S., Thomassen, M., Jensen, U. B., Laitman, Y., Rantala, J., von Wachenfeldt, A., Hans Ehrencrona, Stenmark Askmalm, M., Åke Borg, Kuchenbaecker, K. B., McGuffog, L., Barrowdale, D., Healey, S., Lee, A., Pharoah, P. D. P., Chenevix-Trench, G., Antoniou, A. C. & Friedman, E., 2015, In : Cancer Epidemiology Biomarkers & Prevention. 24, 1, p. 308-316

    Research output: Contribution to journalArticle

  121. Ebf1 heterozygosity results in increased DNA damage in pro-B cells and their synergistic transformation by Pax5 haploinsufficiency.

    Prasad, M. A. J., Ungerbäck, J., Åhsberg, J., Somasundaram, R., Strid, T., Larsson, M., Månsson, R., De Paepe, A., Henrik Lilljebjörn, Thoas Fioretos, Hagman, J. & Mikael Sigvardsson, 2015, In : Blood. 125, 26, p. 4052-4059

    Research output: Contribution to journalArticle

  122. The clinical impact of IKZF1 deletions in paediatric B-cell precursor acute lymphoblastic leukaemia is independent of minimal residual disease stratification in Nordic Society for Paediatric Haematology and Oncology treatment protocols used between 1992 and 2013.

    Linda Olsson, Ivanov Öfverholm, I., Norén-Nyström, U., Zachariadis, V., Nordlund, J., Sjögren, H., Golovleva, I., Nordgren, A., Kajsa Paulsson, Heyman, M., Barbany, G. & Bertil Johansson, 2015, In : British Journal of Haematology. 170, 6, p. 847-858

    Research output: Contribution to journalArticle

  123. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

    Dondorp, W., de Wert, G., Bombard, Y., Bianchi, D. W., Bergmann, C., Borry, P., Chitty, L. S., Fellmann, F., Forzano, F., Hall, A., Henneman, L., Howard, H. C., Lucassen, A., Ormond, K., Peterlin, B., Radojkovic, D., Rogowski, W., Soller, M., Tibben, A., Tranebjærg, L. & 2 others, van El, C. G. & Cornel, M. C., 2015, In : European Journal of Human Genetics. 23, 11, p. 1438-1450

    Research output: Contribution to journalArticle

  124. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations.

    Dondorp, W., de Wert, G., Bombard, Y., Bianchi, D. W., Bergmann, C., Borry, P., Chitty, L. S., Fellmann, F., Forzano, F., Hall, A., Henneman, L., Howard, H. C., Lucassen, A., Ormond, K., Peterlin, B., Radojkovic, D., Rogowski, W., Soller, M., Tibben, A., Tranebjærg, L. & 2 others, van El, C. G. & Cornel, M. C., 2015, In : European Journal of Human Genetics.

    Research output: Contribution to journalArticle

  125. The genomic landscape of high hyperdiploid childhood acute lymphoblastic leukemia.

    Kajsa Paulsson, Henrik Lilljebjörn, Biloglav, A., Linda Olsson, Rissler, M., Anders Castor, Barbany, G., Fogelstrand, L., Nordgren, A., Sjögren, H., Thoas Fioretos & Bertil Johansson, 2015, In : Nature Genetics. 47, 6, p. 672-676

    Research output: Contribution to journalArticle

  126. FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.

    Peterlongo, P., Catucci, I., Colombo, M., Caleca, L., Mucaki, E., Bogliolo, M., Marin, M., Damiola, F., Bernard, L., Pensotti, V., Volorio, S., Dall'Olio, V., Meindl, A., Bartram, C., Sutter, C., Surowy, H., Sornin, V., Dondon, M-G., Eon-Marchais, S., Stoppa-Lyonnet, D. & 76 others, Andrieu, N., Sinilnikova, O. M., Mitchell, G., James, P. A., Thompson, E., Marchetti, M., Verzeroli, C., Tartari, C., Capone, G. L., Putignano, A. L., Genuardi, M., Medici, V., Marchi, I., Federico, M., Tognazzo, S., Matricardi, L., Agata, S., Dolcetti, R., Puppa, L. D., Cini, G., Gismondi, V., Viassolo, V., Perfumo, C., Mencarelli, M. A., Baldassarri, M., Peissel, B., Roversi, G., Silvestri, V., Rizzolo, P., Spina, F., Vivanet, C., Tibiletti, M. G., Caligo, M. A., Gambino, G., Tommasi, S., Pilato, B., Tondini, C., Corna, C., Bonanni, B., Barile, M., Osorio, A., Benitez, J., Balestrino, L., Ottini, L., Manoukian, S., Pierotti, M. A., Renieri, A., Varesco, L., Couch, F. J., Wang, X., Devilee, P., Hilbers, F. S., van Asperen, C. J., Viel, A., Montagna, M., Cortesi, L., Diez, O., Balmaña, J., Hauke, J., Schmutzler, R. K., Papi, L., Pujana, M. A., Lázaro, C., Falanga, A., Offit, K., Vijai, J., Campbell, I., Burwinkel, B., Anders Kvist, Hans Ehrencrona, Mazoyer, S., Pizzamiglio, S., Verderio, P., Surralles, J., Rogan, P. K. & Radice, P., 2015, In : Human Molecular Genetics. 24, 18, p. 5345-5355

    Research output: Contribution to journalArticle

  127. Methylated RASSF1A in malignant peripheral nerve sheath tumors identifies neurofibromatosis type 1 patients with inferior prognosis.

    Danielsen, S. A., Lind, G. E., Kolberg, M., Høland, M., Bjerkehagen, B., Sundby Hall, K., van den Berg, E., Fredrik Mertens, Smeland, S., Picci, P. & Lothe, R. A., 2015, In : Neuro-Oncology. 17, 1, p. 63-69

    Research output: Contribution to journalArticle

  128. A certified plasmid reference material for the standardisation of BCR-ABL1 mRNA quantification by real time quantitative PCR.

    White, H., Deprez, L., Corbisier, P., Hall, V., Lin, F., Mazoua, S., Trapmann, S., Aggerholm, A., Andrikovics, H., Akiki, S., Barbany, G., Boeckx, N., Bench, A., Catherwood, M., Cayuela, J-M., Chudleigh, S., Clench, T., Colomer, D., Daraio, F., Dulucq, S. & 51 others, Farrugia, J., Fletcher, L., Foroni, L., Ganderton, R., Gerrard, G., Gineikienė, E., Hayette, S., El Housni, H., Izzo, B., Jansson, M., Johnels, P., Jurcek, T., Kairisto, V., Kizilors, A., Kim, D-W., Lange, T., Lion, T., Polakova, K. M., Martinelli, G., McCarron, S., Merle, P. A., Milner, B., Mitterbauer-Hohendanner, G., Nagar, M., Nickless, G., Nomdedéu, J., Nymoen, D. A., Leibundgut, E. O., Ozbek, U., Pajič, T., Pfeifer, H., Preudhomme, C., Raudsepp, K., Romeo, G., Sacha, T., Talmaci, R., Touloumenidou, T., Van der Velden, V. H. J., Waits, P., Wang, L., Wilkinson, E., Wilson, G., Wren, D., Zadro, R., Ziermann, J., Zoi, K., Müller, M. C., Hochhaus, A., Schimmel, H., Cross, N. C. P. & Emons, H., 2015, In : Leukemia. 29, 2, p. 369-376

    Research output: Contribution to journalArticle

  129. Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness.

    Severin, F., Borry, P., Cornel, M. C., Daniels, N., Fellmann, F., Victoria Hodgson, S., Howard, H. C., John, J., Kääriäinen, H., Kayserili, H., Kent, A., Koerber, F., Kristoffersson, U., Kroese, M., Lewis, C., Marckmann, G., Meyer, P., Pfeufer, A., Schmidtke, J., Skirton, H. & 2 others, Tranebjærg, L. & Rogowski, W. H., 2015, In : European Journal of Human Genetics. 23, 6, p. 729-735

    Research output: Contribution to journalArticle

  130. Antibodies targeting human IL1RAP (IL1R3) show therapeutic effects in xenograft models of acute myeloid leukemia.

    Helena Ågerstam, Christine Karlsson, Hansen, N., Carl Sandén, Askmyr, M., Sofia von Palffy, Högberg, C., Rissler, M., Wunderlich, M., Gunnar Juliusson, Johan Richter, Sjöström, K., Bhatia, R., Mulloy, J. C., Marcus Järås & Thoas Fioretos, 2015, In : Proceedings of the National Academy of Sciences. 112, 34, p. 10786-10791

    Research output: Contribution to journalArticle

  131. Multiple mechanisms of MYCN dysregulation in Wilms tumour.

    Williams, R. D., Chagtai, T., Alcaide-German, M., Apps, J., Wegert, J., Popov, S., Vujanic, G., van Tinteren, H., van den Heuvel-Eibrink, M. M., Kool, M., de Kraker, J., David Gisselsson Nord, Graf, N., Gessler, M. & Pritchard-Jones, K., 2015, In : Oncotarget. 6, 9, p. 7232-7243

    Research output: Contribution to journalArticle

  132. Novel gene targets detected by genomic profiling in a consecutive series of 126 adults with acute lymphoblastic leukemia

    Safavi, S., Hansson, M., Karlsson, K., Biloglav, A., Bertil Johansson & Kajsa Paulsson, 2015, In : Haematologica. 100, 1, p. 55-61

    Research output: Contribution to journalArticle

  133. No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.

    Schlögel, M. J., Mendola, A., Fastré, E., Vasudevan, P., Devriendt, K., de Ravel, T. J., Van Esch, H., Casteels, I., Arroyo Carrera, I., Cristofoli, F., Fieggen, K., Jones, K., Lipson, M., Balikova, I., Singer, A., Soller, M., Mercedes Villanueva, M., Revencu, N., Boon, L. M., Brouillard, P. & 1 others, Vikkula, M., 2015, In : Orphanet Journal of Rare Diseases. 10, 1, 52.

    Research output: Contribution to journalArticle

  134. IL1RAP expression as a measure of leukemic stem cell burden at diagnosis of chronic myeloid leukemia predicts therapy outcome.

    Niklas Landberg, Hansen, N., Askmyr, M., Helena Ågerstam, Lassen, C., Rissler, M., Hansen, H. H., Mustjoki, S., Marcus Järås, Johan Richter & Thoas Fioretos, 2015, In : Leukemia. 30, 1, p. 255-258

    Research output: Contribution to journalArticle

  135. Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

    Rebbeck, T. R., Mitra, N., Wan, F., Sinilnikova, O. M., Healey, S., McGuffog, L., Mazoyer, S., Chenevix-Trench, G., Easton, D. F., Antoniou, A. C., Nathanson, K. L., Laitman, Y., Kushnir, A., Paluch-Shimon, S., Berger, R., Zidan, J., Friedman, E., Ehrencrona, H., Stenmark-Askmalm, M., Einbeigi, Z. & 238 others, Loman, N., Harbst, K., Rantala, J., Melin, B., Huo, D., Olopade, O. I., Seldon, J., Ganz, P. A., Nussbaum, R. L., Chan, S. B., Odunsi, K., Gayther, S. A., Domchek, S. M., Arun, B. K., Lu, K. H., Mitchell, G., Karlan, B. Y., Walsh, C., Lester, J., Godwin, A. K., Pathak, H., Ross, E., Daly, M. B., Whittemore, A. S., John, E. M., Miron, A., Terry, M. B., Chung, W. K., Goldgar, D. E., Buys, S. S., Janavicius, R., Tihomirova, L., Tung, N., Dorfling, C. M., van Rensburg, E. J., Steele, L., Neuhausen, S. L., Ding, Y. C., Ejlertsen, B., Gerdes, A-M., Hansen, T. V. O., Ramón y Cajal, T., Osorio, A., Benitez, J., Godino, J., Tejada, M-I., Duran, M., Weitzel, J. N., Bobolis, K. A., Sand, S. R., Fontaine, A., Savarese, A., Pasini, B., Peissel, B., Bonanni, B., Zaffaroni, D., Vignolo-Lutati, F., Scuvera, G., Giannini, G., Bernard, L., Genuardi, M., Radice, P., Dolcetti, R., Manoukian, S., Pensotti, V., Gismondi, V., Yannoukakos, D., Fostira, F., Garber, J., Torres, D., Rashid, M. U., Hamann, U., Peock, S., Frost, D., Platte, R., Evans, D. G., Eeles, R., Davidson, R., Eccles, D., Cole, T., Cook, J., Brewer, C., Hodgson, S., Morrison, P. J., Walker, L., Porteous, M. E., Kennedy, M. J., Izatt, L., Adlard, J., Donaldson, A., Ellis, S., Sharma, P., Schmutzler, R. K., Wappenschmidt, B., Becker, A., Rhiem, K., Hahnen, E., Engel, C., Meindl, A., Engert, S., Ditsch, N., Arnold, N., Plendl, H. J., Mundhenke, C., Niederacher, D., Fleisch, M., Sutter, C., Bartram, C. R., Dikow, N., Wang-Gohrke, S., Gadzicki, D., Steinemann, D., Kast, K., Beer, M., Varon-Mateeva, R., Gehrig, A., Weber, B. H., Stoppa-Lyonnet, D., Sinilnikova, O. M., Mazoyer, S., Houdayer, C., Belotti, M., Gauthier-Villars, M., Damiola, F., Boutry-Kryza, N., Lasset, C., Sobol, H., Peyrat, J-P., Muller, D., Fricker, J-P., Collonge-Rame, M-A., Mortemousque, I., Nogues, C., Rouleau, E., Isaacs, C., De Paepe, A., Poppe, B., Claes, K., De Leeneer, K., Piedmonte, M., Rodriguez, G., Wakely, K., Boggess, J., Blank, S. V., Basil, J., Azodi, M., Phillips, K-A., Caldes, T., de la Hoya, M., Romero, A., Nevanlinna, H., Aittomäki, K., van der Hout, A. H., Hogervorst, F. B. L., Verhoef, S., Collée, J. M., Seynaeve, C., Oosterwijk, J. C., Gille, J. J. P., Wijnen, J. T., Garcia, E. B. G., Kets, C. M., Ausems, M. G. E. M., Aalfs, C. M., Devilee, P., Mensenkamp, A. R., Kwong, A., Olah, E., Papp, J., Diez, O., Lazaro, C., Darder, E., Blanco, I., Salinas, M., Jakubowska, A., Lubinski, J., Gronwald, J., Jaworska-Bieniek, K., Durda, K., Sukiennicki, G., Huzarski, T., Byrski, T., Cybulski, C., Toloczko-Grabarek, A., Złowocka-Perłowska, E., Menkiszak, J., Arason, A., Barkardottir, R. B., Simard, J., Laframboise, R., Montagna, M., Agata, S., Alducci, E., Peixoto, A., Teixeira, M. R., Spurdle, A. B., Lee, M. H., Park, S. K., Kim, S-W., Friebel, T. M., Couch, F. J., Lindor, N. M., Pankratz, V. S., Guidugli, L., Wang, X., Tischkowitz, M., Foretova, L., Vijai, J., Offit, K., Robson, M., Rau-Murthy, R., Kauff, N., Fink-Retter, A., Singer, C. F., Rappaport, C., Gschwantler-Kaulich, D., Pfeiler, G., Tea, M-K., Berger, A., Greene, M. H., Mai, P. L., Imyanitov, E. N., Toland, A. E., Senter, L., Bojesen, A., Pedersen, I. S., Skytte, A-B., Sunde, L., Thomassen, M., Moeller, S. T., Kruse, T. A., Jensen, U. B., Caligo, M. A., Aretini, P., Teo, S-H., Selkirk, C. G., Hulick, P. J. & Andrulis, I., 2015, In : JAMA: The Journal of the American Medical Association. 313, 13, p. 1347-1361

    Research output: Contribution to journalArticle

  136. Intratumoral genome diversity parallels progression and predicts outcome in pediatric cancer.

    Holmquist Mengelbier, L., Karlsson, J., Lindgren, D., Valind, A., Lilljebjörn, H., Jansson, C., Bexell, D., Braekeveldt, N., Ameur, A., Jonson, T., Kultima, H. G., Isaksson, A., Asmundsson, J., Versteeg, R., Rissler, M., Fioretos, T., Sandstedt, B., Börjesson, A., Backman, T., Pal, N. & 3 others, Ingrid Øra, Mayrhofer, M. & David Gisselsson Nord, 2015, In : Nature Communications. 6, 6125.

    Research output: Contribution to journalArticle

  137. Ciliary neurotrophic factor has intrinsic and extrinsic roles in regulating B cell differentiation and bone structure.

    Askmyr, M., White, K. E., Jovic, T., King, H. A., Quach, J. M., Maluenda, A. C., Baker, E. K., Smeets, M. F., Walkley, C. R. & Purton, L. E., 2015, In : Scientific Reports. 5, 15529.

    Research output: Contribution to journalArticle

  138. Genetic and epigenetic characterization of hypodiploid acute lymphoblastic leukemia.

    Safavi, S., Linda Olsson, Biloglav, A., Srinivas Veerla, Blendberg, M., Tayebwa, J., Behrendtz, M., Anders Castor, Markus Hansson, Bertil Johansson & Kajsa Paulsson, 2015, In : Oncotarget. 6, 40

    Research output: Contribution to journalArticle

  139. Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

    Kuchenbaecker, K. B., Niklas Loman, Åke Borg, Hans Ehrencrona, Antoniou, A. C., Håkan Olsson, Helena Jernström, Henriksson, K., Katja Harbst, Soller, M., Ulf Kristoffersson & EMBRACE Study, 2014 Dec 31, In : Breast Cancer Research. 16, 6, p. 1-27 3416.

    Research output: Contribution to journalArticle

  140. A glioma classification scheme based on coexpression modules of EGFR and PDGFRA

    Sun, Y., Zhang, W., Chen, D., Lv, Y., Zheng, J., Henrik Lilljebjörn, Ran, L., Bao, Z., Soneson, C., Hans Olov Sjögren, Leif G. Salford, Jianguang Ji, Frenc, P. J., Thoas Fioretos, Jiang, T. & Xiaolong Fan, 2014 Mar 4, In : Proceedings of the National Academy of Sciences of the United States of America. 111, 9, p. 3538-3543 6 p.

    Research output: Contribution to journalArticle

  141. Autosomal dominant cerebellar ataxia with slow ocular saccades, neuropathy and orthostatism: A novel entity?

    Wictorin, K., Brådvik, B., Nilsson, K., Soller, M., Danielle van Westen, Bynke, G., Bauer, P., Schöls, L. & Andreas Puschmann, 2014, In : Parkinsonism & Related Disorders. 20, 7, p. 748-754

    Research output: Contribution to journalArticle

  142. GRIA2 is a novel diagnostic marker for solitary fibrous tumour identified through gene expression profiling

    Vivero, M., Doyle, L. A., Fletcher, C. D. M., Fredrik Mertens & Hornick, J. L., 2014, In : Histopathology. 65, 1, p. 71-80

    Research output: Contribution to journalArticle

  143. Recurrent EWSR1-CREB3L1 Gene Fusions in Sclerosing Epithelioid Fibrosarcoma.

    Elsa Arbajian, Puls, F., Magnusson, L., Thway, K., Fisher, C., Sumathi, V. P., Tayebwa, J., Karolin Hansén Nord, Kindblom, L-G. & Fredrik Mertens, 2014, In : American Journal of Surgical Pathology. 38, 6, p. 801-808

    Research output: Contribution to journalArticle

  144. Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis.

    EMIL YGLAND, Taroni, F., Gellera, C., Caldarazzo, S., Duno, M., Soller, M. & Andreas Puschmann, 2014, In : Parkinsonism & Related Disorders. 20, 8, p. 919-923

    Research output: Contribution to journalArticle

  145. Prognostic Implications of Mutations in NOTCH1 and FBXW7 in Childhood T-ALL Treated According to the NOPHO ALL-1992 and ALL-2000 Protocols

    Fogelstrand, L., Staffas, A., Wasslavik, C., Sjogren, H., Soderhall, S., Frost, B-M., Forestier, E., Degerman, S., Behrendtz, M., Heldrup, J., Karrman, K., Bertil Johansson, Heyman, M., Abrahamsson, J. & Palmqvist, L., 2014, In : Pediatric Blood & Cancer. 61, 3, p. 424-430

    Research output: Contribution to journalArticle

  146. High risk of in-breast tumor recurrence after BRCA1/2-associated breast cancer.

    Martin Nilsson, Werner Hartman, L., Ulf Kristoffersson, Johannsson, O. T., Åke Borg, Henriksson, K., Lanke, E., Håkan Olsson & Niklas Loman, 2014, In : Breast Cancer Research and Treatment. 147, 3, p. 571-578

    Research output: Contribution to journalArticle

  147. GRM1 is upregulated through gene fusion and promoter swapping in chondromyxoid fibroma.

    Karolin Hansén Nord, Henrik Lilljebjörn, Vezzi, F., Nilsson, J., Magnusson, L., Tayebwa, J., de Jong, D., Bovée, J. V. M. G., Hogendoorn, P. C. W. & Szuhai, K., 2014, In : Nature Genetics. 46, 5, p. 474-477

    Research output: Contribution to journalArticle

  148. Robust isolation of malignant plasma cells in multiple myeloma.

    Ildiko Frigyesi, Adolfsson, J., Ali, M., Christophersen, M. K., Ellinor Johnsson, Ingemar Turesson, Urban Gullberg, Markus Hansson & Björn Nilsson, 2014, In : Blood. 123, 9, p. 1336-1340

    Research output: Contribution to journalArticle

  149. Integrative Genome and Transcriptome Analyses Reveal Two Distinct Types of Ring Chromosome in Soft Tissue Sarcomas.

    Karolin Hansén Nord, Macchia, G., Tayebwa, J., Nilsson, J., Fredrik Vult von Steyern, Brosjö, O., Nils Mandahl & Fredrik Mertens, 2014, In : Human Molecular Genetics. 23, 4, p. 878-888

    Research output: Contribution to journalArticle

  150. A Comparison of Rectal Suction and Full Wall Biopsy in Hirschsprung’s Disease

    Örnö Ax, S., Einar Arnbjörnsson & David Gisselsson Nord, 2014, In : Surgical Science. 5, p. 15-19

    Research output: Contribution to journalArticle

  151. Exomic analysis of myxoid liposarcomas, synovial sarcomas, and osteosarcomas

    Joseph, C. G., Hwang, H., Jiao, Y., Wood, L. D., Kinde, I., Wu, J., Nils Mandahl, Luo, J., Hruban, R. H., Diaz Jr, L. A., He, T-C., Vogelstein, B., Kinzler, K. W., Fredrik Mertens & Papadopoulos, N., 2014, In : Genes, Chromosomes and Cancer. 53, 1, p. 15-24

    Research output: Contribution to journalArticle

  152. Fusions involving protein kinase C and membrane-associated proteins in benign fibrous histiocytoma.

    Płaszczyca, A., Nilsson, J., Magnusson, L., Brosjö, O., Larsson, O., Fredrik Vult von Steyern, Domanski, H., Henrik Lilljebjörn, Thoas Fioretos, Tayebwa, J., Nils Mandahl, Karolin Hansén Nord & Fredrik Mertens, 2014, In : International Journal of Biochemistry & Cell Biology. 53, Apr 8, p. 475-481

    Research output: Contribution to journalArticle

  153. DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.

    Osorio, A., Milne, R. L., Kuchenbaecker, K., Vaclová, T., Pita, G., Alonso, R., Peterlongo, P., Blanco, I., de la Hoya, M., Duran, M., Díez, O., Ramón Y Cajal, T., Konstantopoulou, I., Martínez-Bouzas, C., Andrés Conejero, R., Soucy, P., McGuffog, L., Barrowdale, D., Lee, A., Swe-Brca, S-B. & 180 others, Arver, B., Rantala, J., Niklas Loman, Hans Ehrencrona, Olopade, O. I., Beattie, M. S., Domchek, S. M., Nathanson, K., Rebbeck, T. R., Arun, B. K., Karlan, B. Y., Walsh, C., Lester, J., John, E. M., Whittemore, A. S., Daly, M. B., Southey, M., Hopper, J., Terry, M. B., Buys, S. S., Janavicius, R., Dorfling, C. M., van Rensburg, E. J., Steele, L., Neuhausen, S. L., Ding, Y. C., Hansen, T. V. O., Jønson, L., Ejlertsen, B., Gerdes, A-M., Infante, M., Herráez, B., Moreno, L. T., Weitzel, J. N., Herzog, J., Weeman, K., Manoukian, S., Peissel, B., Zaffaroni, D., Scuvera, G., Bonanni, B., Mariette, F., Volorio, S., Viel, A., Varesco, L., Papi, L., Ottini, L., Tibiletti, M. G., Radice, P., Yannoukakos, D., Garber, J., Ellis, S., Frost, D., Platte, R., Fineberg, E., Evans, G., Lalloo, F., Izatt, L., Eeles, R., Adlard, J., Davidson, R., Cole, T., Eccles, D., Cook, J., Hodgson, S., Brewer, C., Tischkowitz, M., Douglas, F., Porteous, M., Side, L., Walker, L., Morrison, P., Donaldson, A., Kennedy, J., Foo, C., Godwin, A. K., Schmutzler, R. K., Wappenschmidt, B., Rhiem, K., Engel, C., Meindl, A., Ditsch, N., Arnold, N., Plendl, H. J., Niederacher, D., Sutter, C., Wang-Gohrke, S., Steinemann, D., Preisler-Adams, S., Kast, K., Varon-Mateeva, R., Gehrig, A., Stoppa-Lyonnet, D., Sinilnikova, O. M., Mazoyer, S., Damiola, F., Poppe, B., Claes, K., Piedmonte, M., Tucker, K., Backes, F., Rodríguez, G., Brewster, W., Wakeley, K., Rutherford, T., Caldés, T., Nevanlinna, H., Aittomäki, K., Rookus, M. A., van Os, T. A. M., van der Kolk, L., de Lange, J. L., Meijers-Heijboer, H. E. J., van der Hout, A. H., van Asperen, C. J., Gómez Garcia, E. B., Hoogerbrugge, N., Collée, J. M., van Deurzen, C. H. M., van der Luijt, R. B., Devilee, P., Hebon, H., Olah, E., Lázaro, C., Teulé, A., Menéndez, M., Jakubowska, A., Cybulski, C., Gronwald, J., Lubinski, J., Durda, K., Jaworska-Bieniek, K., Johannsson, O. T., Maugard, C., Montagna, M., Tognazzo, S., Teixeira, M. R., Healey, S., Investigators, K., Olswold, C., Guidugli, L., Lindor, N., Slager, S., Szabo, C. I., Vijai, J., Robson, M., Kauff, N., Zhang, L., Rau-Murthy, R., Fink-Retter, A., Singer, C. F., Rappaport, C., Geschwantler Kaulich, D., Pfeiler, G., Tea, M-K., Berger, A., Phelan, C. M., Greene, M. H., Mai, P. L., Lejbkowicz, F., Andrulis, I., Mulligan, A. M., Glendon, G., Toland, A. E., Bojesen, A., Pedersen, I. S., Sunde, L., Thomassen, M., Kruse, T. A., Jensen, U. B., Friedman, E., Laitman, Y., Shimon, S. P., Simard, J., Easton, D. F., Offit, K., Couch, F. J., Chenevix-Trench, G., Antoniou, A. C. & Benitez, J., 2014, In : PLoS Genetics. 10, 4, e1004256.

    Research output: Contribution to journalArticle

  154. Myoepithelioma of bone with a novel FUS-POU5F1 fusion gene

    Puls, F., Elsa Arbajian, Magnusson, L., Douis, H., Kindblom, L-G. & Fredrik Mertens, 2014, In : Histopathology. 65, 6, p. 917-922

    Research output: Contribution to journalArticle

  155. HIF-1α can act as a tumor suppressor gene in murine Acute Myeloid Leukemia.

    Velasco, T., Axel Hyrenius Wittsten, Rehn, M., David Bryder & Cammenga, J., 2014, In : Blood. 124, 24, p. 3597-3607

    Research output: Contribution to journalArticle

  156. Rearrangements of chromosome bands 15q12-q21 are secondary to HMGA2 deregulation in conventional lipoma.

    Macchia, G., Karolin Hansén Nord, D'Alessandro, G., Nilsson, J., Magnusson, L., Nils Mandahl, Storlazzi, C. T. & Fredrik Mertens, 2014, In : Oncology Reports. 31, 2, p. 807-811

    Research output: Contribution to journalArticle

  157. Long-term prognosis of early-onset breast cancer in a population-based cohort with a known BRCA1/2 mutation status.

    Martin Nilsson, Werner Hartman, L., Idvall, I., Ulf Kristoffersson, Johannsson, O. T. & Niklas Loman, 2014, In : Breast Cancer Research and Treatment. 144, 1, p. 133-142

    Research output: Contribution to journalArticle

  158. Permanent activation of HMGA2 in lipomas mimics its temporal physiological activation linked to the gain of adipose tissue

    Thies, H. W., Nolte, I., Wenk, H., Fredrik Mertens, Bullerdiek, J. & Markowski, D. N., 2014, In : Obesity. 22, 1, p. 141-150

    Research output: Contribution to journalArticle

  159. t(6;9)(p22; q34)/DEK-NUP214-rearranged pediatric myeloid leukemia: an international study of 62 patients

    Sandahl, J. D., Coenen, E. A., Forestier, E., Harbott, J., Johansson, B., Kerndrup, G., Adachi, S., Auvrignon, A., Beverloo, H. B., Cayuela, J-M., Chilton, L., Fornerod, M., de Haas, V., Harrison, C. J., Inaba, H., Kaspers, G. J. L., Liang, D-C., Locatelli, F., Masetti, R., Perot, C. & 8 others, Raimondi, S. C., Reinhardt, K., Tomizawa, D., von Neuhoff, N., Zecca, M., Zwaan, C. M., van den Heuvel-Eibrink, M. M. & Hasle, H., 2014, In : Haematologica. 99, 5, p. 865-872

    Research output: Contribution to journalArticle

  160. Nuclear expression of STAT6 distinguishes solitary fibrous tumor from histologic mimics

    Doyle, L. A., Vivero, M., Fletcher, C. D. M., Fredrik Mertens & Hornick, J. L., 2014, In : Modern Pathology. 27, 3, p. 390-395

    Research output: Contribution to journalArticle

  161. Csnk1a1 inhibition has p53-dependent therapeutic efficacy in acute myeloid leukemia

    Marcus Järås, Miller, P. G., Chu, L. P., Puram, R. V., Fink, E. C., Schneider, R. K., Al-Shahrour, F., Pablo Peña, Breyfogle, L. J., Hartwell, K. A., McConkey, M. E., Cowley, G. S., Root, D. E., Kharas, M. G., Mullally, A. & Ebert, B. L., 2014, In : Journal of Experimental Medicine. 211, 4, p. 605-612

    Research output: Contribution to journalArticle

  162. Clinical and genetic features of pediatric acute lymphoblastic leukemia in Down syndrome in the Nordic countries

    Lundin, C., Forestier, E., Andersen, M. K., Autio, K., Barbany, G., Cavelier, L., Golovleva, I., Heim, S., Heinonen, K., Hovland, R., Johannsson, J. H., Kjeldsen, E., Nordgren, A., Palmqvist, L. & Bertil Johansson, 2014, In : Journal of Hematology & Oncology. 7, 32.

    Research output: Contribution to journalArticle

  163. Incidence and prognostic significance of karyotypic subgroups in older patients with acute myeloid leukemia: the Swedish population-based experience.

    Lazarevic, V., Hörstedt, A., Bertil Johansson, Antunovic, P., Billström, R., Derolf, A., Hulegårdh, E., Lehmann, S., Möllgård, L., Nilsson, C., Peterson, S., Stockelberg, D., Uggla, B., Wennström, L., Wahlin, A., Höglund, M. & Gunnar Juliusson, 2014, In : Blood Cancer Journal. 4, Feb 28, e188.

    Research output: Contribution to journalArticle

  164. Normal karyotype is a poor prognostic factor in myeloid leukemia of Down syndrome: a retrospective, international study

    Blink, M., Zimmermann, M., von Neuhoff, C., Reinhardt, D., de Haas, V., Hasle, H., O'Brien, M. M., Stark, B., Tandonnet, J., Pession, A., Tousovska, K., Cheuk, D. K. L., Kudo, K., Taga, T., Rubnitz, J. E., Haltrich, I., Balwierz, W., Pieters, R., Forestier, E., Johansson, B. & 2 others, van den Heuvel-Eibrink, M. M. & Zwaan, C. M., 2014, In : Haematologica. 99, 2, p. 299-307

    Research output: Contribution to journalArticle

  165. Primary mesenchymal stem cells in human transplanted lungs are CD90/CD105 perivascularly located tissue-resident cells.

    Sara Rolandsson Enes, Andersson Sjöland, A., Brune, J. C., Hongzhe Li, Kassem, M., Fredrik Mertens, Westergren, A., Leif Eriksson, Hansson, L., Skog, I., Leif Bjermer, Stefan Scheding & Gunilla Westergren-Thorsson, 2014, In : BMJ Open Respiratory Research. 1, 1, e000027.

    Research output: Contribution to journalArticle

  166. Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein.

    Dominguez, M., Drost, M., Therkildsen, C., Rambech, E., Hans Ehrencrona, Angleys, M., Lau Hansen, T., de Wind, N., Mef Nilbert & Juel Rasmussen, L., 2014, In : Molecular Genetics & Genomic Medicine. 2, 4, p. 352-355

    Research output: Contribution to journalArticle

  167. Cytogenetic and single nucleotide polymorphism array findings in soft tissue tumors in infants

    Charles Walther, Nilsson, J., Fredrik Vult von Steyern, Thomas Wiebe, Bauer, H. C. F., Karolin Hansén Nord, David Gisselsson, Domanski, H. A., Nils Mandahl & Fredrik Mertens, 2013 Aug 14, In : Cancer genetics. 206, 7-8, p. 299-303 5 p.

    Research output: Contribution to journalArticle

  168. Genomic Heterogeneity in Acute Leukemia.

    Kajsa Paulsson, 2013, In : Cytogenetic and Genome Research. 139, 3, p. 174-180

    Research output: Contribution to journalArticle

  169. TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal

    Killela, P. J., Reitman, Z. J., Jiao, Y., Bettegowda, C., Agrawal, N., Diaz Jr., L. A., Friedman, A. H., Friedman, H., Gallia, G. L., Giovanella, B. C., Grollman, A. P., He, T-C., He, Y., Hruban, R. H., Jallo, G. I., Mandahl, N., Meeker, A. K., Mertens, F., Netto, G. J., Rasheed, B. A. & 17 others, Riggins, G. J., Rosenquist, T. A., Schiffman, M., Shih, I-M., Theodorescu, D., Torbenson, M. S., Velculescu, V. E., Wang, T-L., Wentzensen, N., Wood, L. D., Zhang, M., McLendon, R. E., Bigner, D. D., Kinzler, K. W., Vogelstein, B., Papadopoulos, N. & Yan, H., 2013, In : Proceedings of the National Academy of Sciences. 110, 15, p. 6021-6026

    Research output: Contribution to journalArticle

  170. Survival meta-analyses for >1800 malignant peripheral nerve sheath tumor patients with and without neurofibromatosis type 1.

    Kolberg, M., Høland, M., Agesen, T. H., Brekke, H. R., Liestøl, K., S Hall, K., Fredrik Mertens, Picci, P., Smeland, S. & Lothe, R. A., 2013, In : Neuro-Oncology. 15, 2, p. 135-147

    Research output: Contribution to journalArticle

  171. Analysis of Mice Lacking the Heparin-Binding Splice Isoform of Platelet-Derived Growth Factor A

    Andrae, J., Hans Ehrencrona, Gallini, R., Lal, M., Ding, H. & Betsholtz, C., 2013, In : Molecular and Cellular Biology. 33, 20, p. 4030-4040

    Research output: Contribution to journalArticle

  172. Selective killing of candidate AML stem cells by antibody targeting of IL1RAP.

    Askmyr, M., Helena Ågerstam, Hansen, N., Gordon, S., Alexandros Arvanitakis, Rissler, M., Gunnar Juliusson, Johan Richter, Marcus Järås & Thoas Fioretos, 2013, In : Blood. 121, 18, p. 3709-3713

    Research output: Contribution to journalArticle

  173. Lentiviral gene transfer of TCIRG1 into peripheral blood CD34(+) cells restores osteoclast function in infantile malignant osteopetrosis.

    Ilana Moscatelli, Thudium, C., Flores Bjurström, C., Schulz, A., Askmyr, M., Gudmann, N. S., Andersen, N. M., Porras, O., Karsdal, M. A., Villa, A., Fasth, A., Henriksen, K. & Johan Richter, 2013, In : Bone. 57, 1, p. 1-9

    Research output: Contribution to journalArticle

  174. snoRNPs Regulate Telomerase Activity in Neuroblastoma and Are Associated with Poor Prognosis.

    Kristoffer von Stedingk, Koster, J., Piqueras, M., Noguera, R., Navarro, S., Sven Påhlman, Versteeg, R., Ingrid Øra, David Gisselsson Nord, David Lindgren & Håkan Axelson, 2013, In : Translational Oncology. 6, 4, p. 447-457 11 p.

    Research output: Contribution to journalArticle

  175. Novel Mutation in the KCNJ2 Gene Is Associated with a Malignant Arrhythmic Phenotype of Andersen-Tawil Syndrome.

    Eva Fernlund, Lundin, C., Hertervig, E., Kongstad Rasmussen, O., Alders, M. & Pyotr Platonov, 2013, In : Annals of Noninvasive Electrocardiology. 18, 5, p. 471-478

    Research output: Contribution to journalArticle

  176. A Benign Vascular Tumor With a New Fusion Gene: EWSR1-NFATC1 in Hemangioma of the Bone.

    Elsa Arbajian, Magnusson, L., Brosjö, O., Wejde, J., Folpe, A. L., Karolin Hansén Nord & Fredrik Mertens, 2013, In : American Journal of Surgical Pathology. 37, 4, p. 613-616

    Research output: Contribution to journalArticle

  177. Are 25 SNPs from the CARDIoGRAM study associated with ischaemic stroke?

    Håkan Lövkvist, Marketa Sjögren, Höglund, P., Gunnar Engström, Jern, C., Olsson, S., Smith, J. G., Bo Hedblad, Gunnar Andsberg, Hossein Delavaran, Jood, K., Ulf Kristoffersson, Bo Norrving, Olle Melander & Arne Lindgren, 2013, In : European Journal of Neurology. 20, 9, p. 1284-1291

    Research output: Contribution to journalArticle

  178. Comprehensive genetic analysis identifies a pathognomonic NAB2/STAT6 fusion gene, nonrandom secondary genomic imbalances, and a characteristic gene expression profile in solitary fibrous tumor.

    Mohajeri, A., Tayebwa, J., Collin, A., Nilsson, J., Magnusson, L., Fredrik Vult von Steyern, Brosjö, O., Domanski, H., Larsson, O., Sciot, R., Debiec-Rychter, M., Hornick, J. L., Nils Mandahl, Karolin Hansén Nord & GCC Klinisk genetik, F. M., 2013, In : Genes, Chromosomes and Cancer. 52, 10, p. 873-886

    Research output: Contribution to journalArticle

  179. The Tetraspanin CD9 Affords High-Purity Capture of All Murine Hematopoietic Stem Cells

    Göran Karlsson, Rörby, E., Pina, C., Shamit Soneji, Reckzeh, K., Kenichi Miharada, Christine Karlsson, Guo, Y., Fugazza, C., Gupta, R., Martens, J. H. A., Stunnenberg, H. G., Stefan Karlsson & Enver, T., 2013, In : Cell Reports. 4, 4, p. 642-648

    Research output: Contribution to journalArticle

  180. Assessment of Fusion Gene Status in Sarcomas Using a Custom Made Fusion Gene Microarray

    Lovf, M., Thomassen, G. O. S., Fredrik Mertens, Cerveira, N., Teixeira, M. R., Lothe, R. A. & Skotheim, R. I., 2013, In : PLoS ONE. 8, 8, e70649.

    Research output: Contribution to journalArticle

  181. Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

    Bojesen, S. E., Pooley, K. A., Johnatty, S. E., Beesley, J., Michailidou, K., Tyrer, J. P., Edwards, S. L., Pickett, H. A., Shen, H. C., Smart, C. E., Hillman, K. M., Mai, P. L., Lawrenson, K., Stutz, M. D., Lu, Y., Karevan, R., Woods, N., Johnstonw, R. L., French, J. D., Chen, X. & 417 others, Weischer, M., Nielsen, S. F., Maranian, M. J., Ghoussaini, M., Ahmed, S., Baynes, C., Bolla, M. K., Wang, Q., Dennis, J., McGuffog, L., Barrowdale, D., Lee, A., Healey, S., Lush, M., Tessier, D. C., Vincent, D., Bacot, F., Vergote, I., Lambrechts, S., Despierre, E., Risch, H. A., Gonzalez-Neira, A., Rossing, M. A., Pita, G., Doherty, J. A., Alvarez, N., Larson, M. C., Fridley, B. L., Schoof, N., Chang-Claude, J., Cicek, M. S., Peto, J., Kalli, K. R., Broeks, A., Armasu, S. M., Schmidt, M. K., Braaf, L. M., Winterhoff, B., Nevanlinna, H., Konecny, G. E., Lambrechts, D., Rogmann, L., Guenel, P., Teoman, A., Milne, R. L., Garcia, J. J., Cox, A., Shridhar, V., Burwinkel, B., Marme, F., Hein, R., Sawyer, E. J., Haiman, C. A., Wang-Gohrke, S., Andrulis, I. L., Moysich, K. B., Hopper, J. L., Odunsi, K., Lindblom, A., Giles, G. G., Brenner, H., Simard, J., Lurie, G., Fasching, P. A., Carney, M. E., Radice, P., Wilkens, L. R., Swerdlow, A., Goodman, M. T., Brauch, H., Garcia-Closas, M., Hillemanns, P., Winqvist, R., Durst, M., Devilee, P., Runnebaum, I., Jakubowska, A., Lubinski, J., Mannermaa, A., Butzow, R., Bogdanova, N. V., Doerk, T., Pelttari, L. M., Zheng, W., Leminen, A., Anton-Culver, H., Bunker, C. H., Kristensen, V., Ness, R. B., Muir, K., Edwards, R., Meindl, A., Heitz, F., Matsuo, K., du Bois, A., Wu, A. H., Harter, P., Teo, S-H., Schwaab, I., Shu, X-O., Blot, W., Hosono, S., Kang, D., Nakanishi, T., Hartman, M., Yatabe, Y., Hamann, U., Karlan, B. Y., Sangrajrang, S., Kjaer, S. K., Gaborieau, V., Jensen, A., Eccles, D., Hogdall, E., Shen, C-Y., Brown, J., Woo, Y. L., Shah, M., Azmi, M. A. N., Luben, R., Omar, S. Z., Czene, K., Vierkant, R. A., Nordestgaard, B. G., Flyger, H., Vachon, C., Olson, J. E., Wang, X., Levine, D. A., Rudolph, A., Weber, R. P., Flesch-Janys, D., Iversen, E., Nickels, S., Schildkraut, J. M., Silva, I. D. S., Cramer, D. W., Gibson, L., Terry, K. L., Fletcher, O., Vitonis, A. F., van der Schoot, C. E., Poole, E. M., Hogervorst, F. B. L., Tworoger, S. S., Liu, J., Bandera, E. V., Li, J., Olson, S. H., Humphreys, K., Row, I., Blomqvist, C., Rodriguez-Rodriguez, L., Aittomaki, K., Salvesen, H. B., Muranen, T. A., Wik, E., Brouwers, B., Krakstad, C., Wauters, E., Halle, M. K., Wildiers, H., Kiemeney, L. A., Mulot, C., Aben, K. K., Laurent-Puig, P., Altena, A. M., Truong, T., Massuger, L. F. A. G., Benitez, J., Pejovic, T., Arias Perez, J. I., Hoatlin, M., Zamora, M. P., Cook, L. S., Balasubramanian, S. P., Kelemen, L. E., Schneeweiss, A., Le, N. D., Sohn, C., Brooks-Wilson, A., Tomlinson, I., Kerin, M. J., Miller, N., Cybulski, C., Henderson, B. E., Menkiszak, J., Schumacher, F., Wentzensen, N., Marchand, L. L., Yang, H. P., Mulligan, A. M., Glendon, G., Engelholm, S. A., Knight, J. A., Hogdall, C. K., Apicella, C., Gore, M., Tsimiklis, H., Song, H., Southey, M. C., Jager, A., den Ouweland, A. M. W., Brown, R., Martens, J. W. M., Flanagan, J. M., Kriege, M., Paul, J., Margolin, S., Siddiqui, N., Severi, G., Whittemore, A. S., Baglietto, L., McGuire, V., Stegmaier, C., Sieh, W., Mueller, H., Arndt, V., Labreche, F., Gao, Y-T., Goldberg, M. S., Yang, G., Dumont, M., McLaughlin, J. R., Hartmann, A., Ekici, A. B., Beckmann, M. W., Phelan, C. M., Lux, M. P., Permuth-Wey, J., Peissel, B., Sellers, T. A., Ficarazzi, F., Barile, M., Ziogas, A., Ashworth, A., Gentry-Maharaj, A., Jones, M., Ramus, S. J., Orr, N., Menon, U., Pearce, C. L., Bruening, T., Pike, M. C., Ko, Y-D., Lissowska, J., Figueroa, J., Kupryjanczyk, J., Chanock, S. J., Dansonka-Mieszkowska, A., Jukkola-Vuorinen, A., Rzepecka, I. K., Pylkas, K., Bidzinski, M., Kauppila, S., Hollestelle, A., Seynaeve, C., Tollenaar, R. A. E. M., Durda, K., Jaworska, K., Hartikainen, J. M., Kosma, V-M., Kataja, V., Antonenkova, N. N., Long, J., Shrubsole, M., Deming-Halverson, S., Lophatananon, A., Siriwanarangsan, P., Stewart-Brown, S., Ditsch, N., Lichtner, P., Schmutzler, R. K., Ito, H., Iwata, H., Tajima, K., Tseng, C-C., Stram, D. O., van den Berg, D., Yip, C. H., Ikrarn, M. K., Teh, Y-C., Cai, H., Lu, W., Signorello, L. B., Cai, Q., Noh, D-Y., Yoo, K-Y., Miao, H., Iau, P. T-C., Teo, Y. Y., McKay, J., Shapiro, C., Ademuyiwa, F., Fountzilas, G., Hsiung, C-N., Yu, J-C., Hou, M-F., Healey, C. S., Luccarini, C., Peock, S., Stoppa-Lyonnet, D., Peterlongo, P., Rebbeck, T. R., Piedmonte, M., Singer, C. F., Friedman, E., Thomassen, M., Offit, K., Hansen, T. V. O., Neuhausen, S. L., Szabo, C. I., Blanco, I., Garber, J., Narod, S. A., Weitzel, J. N., Montagna, M., Olah, E., Godwin, A. K., Yannoukakos, D., Goldgar, D. E., Caldes, T., Imyanitov, E. N., Tihomirova, L., Arun, B. K., Campbell, I., Mensenkamp, A. R., van Asperen, C. J., van Roozendaa, K. E. P., Meijers-Heijboer, H., Collee, J. M., Oosterwijk, J. C., Hooning, M. J., Rookus, M. A., van der Luijt, R. B., Os, T. A. M., Evans, D. G., Frost, D., Fineberg, E., Barwell, J., Walker, L., Kennedy, M. J., Platte, R., Davidson, R., Ellis, S. D., Cole, T., Bressac-de Paillerets, B., Buecher, B., Damiola, F., Faivre, L., Frenay, M., Sinilnikova, O. M., Caron, O., Giraud, S., Mazoyer, S., Bonadona, V., Caux-Moncoutier, V., Toloczko-Grabarek, A., Gronwald, J., Byrski, T., Spurdle, A. B., Bonanni, B., Zaffaroni, D., Giannini, G., Bernard, L., Dolcetti, R., Manoukian, S., Arnold, N., Engel, C., Deissler, H., Rhiem, K., Niederacher, D., Pendl, H., Sutter, C., Wappenschmidt, B., Åke Borg, Mein, B., Rantala, J., Soller, M., Nathanson, K. L., Domchek, S. M., Rodriguez, G. C., Salani, R., Kaulich, D. G., Tea, M-K., Paluch, S. S., Laitman, Y., Skytte, A-B., Kruse, T. A., Jensen, U. B., Robson, M., Gerdes, A-M., Ejlertsen, B., Foretova, L., Savage, S. A., Lesterm, J., Soucy, P., Kuchenbaecker, K. B., Olswold, C., Cunningham, J. M., Slager, S., Pankratz, V. S., Dicks, E., Lakhani, S. R., Couch, F. J., Hall, P., Monteiro, A. N. A., Gayther, S. A., Pharoah, P. D. P., Reddel, R. R., Goode, E. L., Greene, M. H., Easton, D. F., Berchuck, A., Antoniou, A. C., Chenevix-Trench, G. & Dunning, A. M., 2013, In : Nature Genetics. 45, 4, p. 371-384

    Research output: Contribution to journalArticle

  182. SOCS2 is dispensable for BCR/ABL1-induced chronic myeloid leukemia-like disease and for normal hematopoietic stem cell function.

    Hansen, N., Helena Ågerstam, Martin Wahlestedt, Niklas Landberg, Askmyr, M., Mats Ehinger, Rissler, M., Henrik Lilljebjörn, Johnels, P., Ishiko, J., Melo, J. V., Whalen, A., David Bryder, Marcus Järås & Thoas Fioretos, 2013, In : Leukemia. 27, p. 130-135

    Research output: Contribution to journalArticle

  183. Loss of chromosomes is the primary event in near-haploid and low hypodiploid acute lymphoblastic leukemia.

    Safavi, S., Forestier, E., Golovleva, I., Barbany, G., Karolin Hansén Nord, Moorman, A. V., Harrison, C. J., Bertil Johansson & Kajsa Paulsson, 2013, In : Leukemia. 27, 1, p. 248-250

    Research output: Contribution to journalArticle

  184. The genomic landscape of hypodiploid acute lymphoblastic leukemia

    Holmfeldt, L., Wei, L., Diaz-Flores, E., Walsh, M., Zhang, J., Ding, L., Payne-Turner, D., Churchman, M., Andersson, A., Chen, S-C., McCastlain, K., Becksfort, J., Ma, J., Wu, G., Patel, S. N., Heatley, S. L., Phillips, L. A., Song, G., Easton, J., Parker, M. & 43 others, Chen, X., Rusch, M., Boggs, K., Vadodaria, B., Hedlund, E., Drenberg, C., Baker, S., Pei, D., Cheng, C., Huether, R., Lu, C., Fulton, R. S., Fulton, L. L., Tabib, Y., Dooling, D. J., Ochoa, K., Minden, M., Lewis, I. D., To, L. B., Marlton, P., Roberts, A. W., Raca, G., Stock, W., Neale, G., Drexler, H. G., Dickins, R. A., Ellison, D. W., Shurtleff, S. A., Pui, C-H., Ribeiro, R. C., Devidas, M., Carroll, A. J., Heerema, N. A., Wood, B., Borowitz, M. J., Gastier-Foster, J. M., Raimondi, S. C., Mardis, E. R., Wilson, R. K., Downing, J. R., Hunger, S. P., Loh, M. L. & Mullighan, C. G., 2013, In : Nature Genetics. 45, 3, p. 242-252

    Research output: Contribution to journalArticle

  185. Intratumour diversity of chromosome copy numbers in neuroblastoma mediated by on-going chromosome loss from a polyploid state.

    Lundberg, G., Jin, Y., Sehic, D., Ingrid Øra, Versteeg, R. & David Gisselsson Nord, 2013, In : PLoS ONE. 8, 3, e59268.

    Research output: Contribution to journalArticle

  186. Better Prognosis of Patients with Glioma Expressing FGF2-Dependent PDGFRA Irrespective of Morphological Diagnosis.

    Chen, D., Persson, A., Sun, Y., Leif Salford, David Gisselsson Nord, Elisabet Englund, Jiang, T. & Xiaolong Fan, 2013, In : PLoS ONE. 8, 4, e61556.

    Research output: Contribution to journalArticle

  187. Recurrent chromosome 22 deletions in osteoblastoma affect inhibitors of the wnt/beta-catenin signaling pathway.

    Karolin Hansén Nord, Nilsson, J., Elsa Arbajian, Fredrik Vult von Steyern, Brosjö, O., Cleton-Jansen, A-M., Szuhai, K. & Hogendoorn, P. C. W., 2013, In : PLoS ONE. 8, 11, e80725.

    Research output: Contribution to journalArticle

  188. Impact of malignant stem cell burden on therapy outcome in newly diagnosed chronic myeloid leukemia patients

    Mustjoki, S., Richter, J., Barbany, G., Ehrencrona, H., Fioretos, T., Gedde-Dahl, T., Gjertsen, B. T., Hovland, R., Hernesniemi, S., Josefsen, D., Koskenvesa, P., Dybedal, I., Markevarn, B., Olofsson, T., Olsson-Stromberg, U., Rapakko, K., Thunberg, S., Stenke, L., Simonsson, B., Porkka, K. & 1 others, Hjorth-Hansen, H., 2013, In : Leukemia. 27, 7, p. 1520-1526

    Research output: Contribution to journalArticle

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