Division of Clinical Genetics

Organisational unit: Division

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  1. 2018
  2. 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

  3. 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

  4. 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

  5. Studies of Ligands and Receptors Regulating Acute Myeloid Leukemia

    Pablo Peña, 2018, Lund: Lund University: Faculty of Medicine. 72 p.

    Research output: ThesisDoctoral Thesis (compilation)

  6. 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

  7. 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

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