Avdelningen för klinisk genetik

Organisation: avdelning

Fler filtreringsmöjligheter
  1. Artikel i vetenskaplig tidskrift
  2. 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 andraNik-Zainal, S., 2019 sep 30, I : Nature Medicine. 25, s. 1526–1533

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  3. Most gene fusions in cancer are stochastic events

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

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Okuyama, K., Tobias Strid, Kuruvilla, J., Somasundaram, R., Cristobal, S., Emma Smith, Prasad, M., Thoas Fioretos, Henrik Lilljebjörn, Shamit Soneji, Stefan Lang, Jonas Ungerbäck & Mikael Sigvardsson, 2019 aug 1, I : PLoS Genetics. 15, 8, e1008280.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  5. Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2 gene

    Monika Meinert, Elisabet Englund, Hedberg-Oldfors, C., Oldfors, A., Kornhall, B., Lundin, C. & Wittström, E., 2019 jul 2, I : Ophthalmic Genetics. 40, 3, s. 227–236 11 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Minjun Yang, Vesterlund, M., Siavelis, I., Moura-Castro, L. H., Anders Castor, Thoas Fioretos, Jafari, R., Henrik Lilljebjörn, Odom, D. T., Linda Olsson, Naveen Ravi, Eleanor L. Woodward, Harewood, L., Lehtiö, J. & Kajsa Paulsson, 2019 apr 3, I : Nature Communications. 10, 1, 1519.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Ponte di Legno Childhood ALL Working Group & Kajsa Paulsson, 2019 apr 1, I : Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 37, 10, s. 770-779 10 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Ola Forslund, Natsuki Sugiyama, Chengjun Wu, Naveen Ravi, Jin, Y., Swoboda, S., Andersson, F., Bzhalava, D., Hultin, E., Kajsa Paulsson, Dillner, J., Stefan Schwartz, Johan Wennerberg & Lars Ekblad, 2019 mar 25, I : BMC Cancer. 19, 1, 265.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

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

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Brédart, A., Kop, J. L., Antoniou, A. C., Cunningham, A. P., de Pauw, A., Tischkowitz, M., Hans Ehrencrona, Schmidt, M. K., Dolbeault, S., Rhiem, K., Easton, D. F., Devilee, P., Stoppa-Lyonnet, D. & Schmutlzer, R., 2019 jan, I : Journal of Community Genetics. 10, 1, s. 61-71

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Studd, J. B., Minjun Yang, Li, Z., Vijayakrishnan, J., Lu, Y., Yeoh, A. E. J., Kajsa Paulsson & Houlston, R. S., 2019 jan, I : Leukemia. 33, 1, s. 1-14

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Linda Holmquist Mengelbier, Lindell-Munther, S., Hiroaki Yasui, Jansson, C., Esfandyari, J., Jenny Karlsson, Lau, K., Hui, C. C., Daniel Bexell, Hopyan, S. & David Gisselsson, 2019 jan, I : Journal of Pathology. 247, 1

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Al-Ibraheemi, A., Folpe, A. L., Perez-Atayde, A. R., Perry, K., Jakob Hofvander, Elsa Arbajian, Magnusson, L., Nilsson, J. & Fredrik Mertens, 2019, I : Modern Pathology. 32, 3, s. 423-434

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  14. A stroke gene panel for whole-exome sequencing

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

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  15. Changes in the Prevalence of Embryologic Remnants in Umbilical Cord With Gestational Age

    Emma Grottling & David Gisselsson, 2019, I : Pediatric and Developmental Pathology. 22, 4, s. 288-291

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

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

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  17. Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition

    Swedish Extended Genetic Analysis of Colorectal Neoplasia (SWEN) Study Group, Olkinuora, A., Nieminen, T. T., Mårtensson, E., Anna Rohlin, Ristimäki, A., Koskenvuo, L., Lepistö, A., Samuel Gebre-Medhin, Nordling, M. & Peltomäki, P., 2019, I : Genetics in Medicine. 21, 8, s. 1868-1873

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Puls, F., Pillay, N., Fagman, H., Palin-Masreliez, A., Amary, F., Hansson, M., Kindblom, L. G., McCulloch, T. A., Meligonis, G., Muc, R., Rissler, P., Sumathi, V. P., Tirabosco, R., Jakob Hofvander, Magnusson, L., Nilsson, J., Flanagan, A. M. & Fredrik Mertens, 2019, I : American Journal of Surgical Pathology. 43, 4, s. 504-513

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

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

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  20. 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, I : Histopathology. 74, 7, s. 1098-1102

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    KConFab Investigators, 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. & 31 andraBlümcke, B., 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, 2019, I : Human Mutation. s. 1557-1578

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

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

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Jakob Hofvander, Puls, F., Pillay, N., Steele, C. D., Flanagan, A. M., Magnusson, L., Nilsson, J. & Fredrik Mertens, 2019, I : Journal of Pathology.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  25. 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, I : Nature Communications. 9, 1, 3662.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  26. 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, I : Cancer Letters. 437, s. 13-24 12 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  27. 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, I : Pediatric Blood and Cancer. 65, 11, e27301.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  28. 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, I : Modern Pathology. 31, 11, s. 1694-1707

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

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

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  30. 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, I : Blood Advances. 2, 13, s. 1651-1663

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  31. 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, I : Nature Genetics. 50, 7, s. 944-950

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  32. 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 andraFabarius, A., Hofmann, W. K., Hochhaus, A., Pfirrmann, M., Mahon, F. X. & EURO-SKI investigators, 2018 jun, I : The Lancet Oncology. 19, 6, s. 747-757

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  33. Novel subgroups of adult-onset diabetes and their association with outcomes: A data-driven cluster analysis of six variables

    Ahlqvist, E., Storm, P., Käräjämäki, A., Martinell, M., Dorkhan, M., Carlsson, A., Vikman, P., Prasad, R. B., Aly, D. M., Almgren, P., Wessman, Y., Shaat, N., Spégel, P., Mulder, H., Lindholm, E., Melander, O., Hansson, O., Malmqvist, U., Lernmark, Å., Lahti, K. & 4 andraForsén, T., Tuomi, T., Anders H. Rosengren & Leif Groop, 2018 maj, I : The Lancet Diabetes and Endocrinology. 6, 5, s. 361-369

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  34. 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, I : Stem Cell Research. 28, s. 44-47 4 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

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

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  36. 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 andraOrimo, A., Mattias Höglund, Lisa Rydén, Moch, H., Scott, A. M., Eriksson, U. & Kristian Pietras, 2018 mar 12, I : Nature Medicine. 24, s. 463–473

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  37. Generation of a human induced pluripotent stem cell line (CSC-40) from a Parkinson's disease patient with a PINK1 p.Q456X mutation

    Kaspar Russ, Marote, A., Ekaterina Savchenko, Collin, A., Goldwurm, S., Yuriy Pomeshchik & Laurent Roybon, 2018 mar 1, I : Stem Cell Research. 27, s. 61-64 4 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  38. 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, I : Stem Cell Research. 27, s. 82-85 4 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  39. 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, I : Stem Cell Research. 27, s. 78-81 4 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  40. 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, I : Stem Cell Research. 27, s. 90-94 5 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  41. CD36 defines primitive chronic myeloid leukemia cells less responsive to imatinib but vulnerable to antibody-based therapeutic targeting

    Niklas Landberg, Sofia von Palffy, Askmyr, M., Henrik Lilljebjörn, Carl Sandén, Rissler, M., Mustjoki, S., Hjorth-Hansen, H., Johan Richter, Helena Ågerstam, Marcus Järås & Thoas Fioretos, 2018 feb 28, I : Haematologica. 103, 3, s. 447-455

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  42. 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, I : Genetics in Medicine. 20, 1, s. 109-118 10 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  43. 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, I : Familial Cancer. 17, 1, s. 31-41

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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