The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia

Hakkarainen, M., Kaaja, I., Douglas, S. P. M., Vulliamy, T., Dokal, I., Soulier, J., Larcher, L., de Latour, R. P., Leblanc, T., de Fontbrune, F. S., Siitonen, T., Lohi, O., Hellstrom-Lindberg, E., Barbany, G., Tesi, B., Shimamura, A., Beier, F., Jackson, S., Kuperman, A. A., Zaccai, T. F., & 9 othersTamary, H., Mecucci, C., Capolsini, I., Jahnukainen, K., Salmenniemi, U., Niinimäki, R., Varilo, T., Kilpivaara, O. & Wartiovaara-Kautto, U., 8 Jun 2023, In: Blood. 141, 23, p. 2853-2866 14 p.

Research output: Contribution to journal › Article › Scientific › peer-review

A germline exome analysis reveals harmful POT1 variants in multiple myeloma patients and families

Hakkarainen, M., Koski, J. R., Heckman, C. A., Anttila, P., Silvennoinen, R., Lievonen, J., Kilpivaara, O. & Wartiovaara-Kautto, U., Nov 2022, In: eJHaem. 3, 4, p. 1352-1357 6 p.

Research output: Contribution to journal › Article › Scientific › peer-review

Germline variants drive myelodysplastic syndrome in young adults

Feurstein, S., Churpek, J. E., Walsh, T., Keel, S., Hakkarainen, M., Schroeder, T., Germing, U., Geyh, S., Heuser, M., Thol, F., Pohlkamp, C., Haferlach, T., Gao, J., Owen, C., Goehring, G., Schlegelberger, B., Verma, D., Krause, D. S., Gao, G., Cronin, T., & 15 othersGulsuner, S., Lee, M., Pritchard, C. C., Subramanian, H. P., del Gaudio, D., Li, Z., Das, S., Kilpivaara, O., Wartiovaara-Kautto, U., Wang, E. S., Griffiths, E. A., Dohner, K., Dohner, H., King, M-C. & Godley, L. A., Aug 2021, In: Leukemia. 35, 8, p. 2439-2444 6 p.

Research output: Contribution to journal › Letter › Scientific