Genetic and functional correction of argininosuccinate lyase deficiency using CRISPR adenine base editors

Jalil, S., Keskinen, T., Juutila, J., Sartori Maldonado, R., Euro, L., Suomalainen, A., Lapatto, R., Kuuluvainen, E., Hietakangas, V., Otonkoski, T., Hyvönen, M. E. & Wartiovaara, K., 4 Apr 2024, In: American Journal of Human Genetics. 111, 4, p. 714-728 15 p.

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

European expert recommendations on clinical investigation and evaluation of high-risk medical devices for children

the European Academy of Paediatrics, Guerlich, K., Patro-Golab, B., Barnacle, A., Baumann, U., Eicken, A. G., Fraser, A., Gruszfeld, D. A., Haas, N. H., Jonker, A., Kammermeier, M., Kenny, D., Kolacek, S., Lapatto, R., Maconochie, I., Mader, S., McGauran, G., Melvin, T., Muensterer, O. & Piscoi, P. & 6 others, Romano, A. K., Saxena, A. T., Schneider, D. A., Turner, M., Vande Walle, J. & Koletzko, B., Nov 2023, In: Acta Paediatrica. 112, 11, p. 2440-2448 9 p.

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

Availability and use of rapid diagnostic tests for the management of acute childhood infections in Europe: A cross-sectional survey of paediatricians

Dewez, J. E., Pembrey, L., Nijman, R. G., del Torso, S., Grossman, Z., Hadjipanayis, A., Van Esso, D., Lim, E., Emonts, M., Burns, J., Gras-LeGuen, C., Kohlfuerst, D., Dornbusch, H. J., Brengel-Pesce, K., Mallet, F., von Both, U., Tsolia, M., Eleftheriou, I., Zavadska, D. & de Groot, R. & 34 others, van der Flier, M., Moll, H., Hagedoorn, N., Borensztajn, D., Oostenbrink, R., Kuijpers, T., Pokorn, M., Vincek, K., Martinon-Torres, F., Rivero, I., Agyeman, P., Carrol, E. D., Paulus, S., Cunnington, A., Herberg, J., Levin, M., Mujkic, A., Geitmann, K., Da Dalt, L., Syridou, G., Valiulis, A., Lapatto, R., Altorjai, P., Torpiano, P., Størdal, K., Illy, K., Mazur, A., Spreitzer, M. V., Rios, J., Wyder, C., Romankevych, I., Basmaci, R., Ibanez-Mico, S. & Yeung, S., 20 Dec 2022, In: PLoS One. 17, 12, 22 p., e0275336.

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

CRISPR correction of the Finnish ornithine delta-aminotransferase mutation restores metabolic homeostasis in iPSC from patients with gyrate atrophy

Maldonado, R., Jalil, S., Keskinen, T., Nieminen, A. I., Hyvönen, M. E., Lapatto, R. & Wartiovaara, K., Jun 2022, In: Molecular Genetics and Metabolism Reports. 31, 6 p., 100863.

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

Expert guidance on the multidisciplinary management of cystinosis in adolescent and adult patients

Levtchenko, E., Servais, A., Hulton, S. A., Ariceta, G., Emma, F., Game, D. S., Lange, K., Lapatto, R., Liang, H., Sberro-Soussan, R., Topaloglu, R., Das, A. M., Webb, N. J. A. & Wanner, C., 22 Aug 2022, In: Clinical kidney journal. 15, 9, p. 1675-1684 10 p.

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