A clinical and molecular characterization of a Pakistani family with multicentric osteolysis, nodulosis and arthropathy (MONA) syndrome

Ahmad, S., Muurinen, M., Loid, P., Ali, M. Z., Muzammal, M., Fatima, S., Khan, J., Khan, M. A. & Mäkitie, O., Sept 2024, In: Bone Reports. 22, 9 p., 101789.

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

Germline mutations in a G protein identify signaling cross-talk in T cells

Ham, H., Jing, H., Lamborn, I. T., Kober, M. M., Koval, A., Berchiche, Y. A., Anderson, D. E., Druey, K. M., Mandl, J. N., Isidor, B., Ferreira, C. R., Freeman, A. F., Ganesan, S., Karsak, M., Mustillo, P. J., Teo, J., Zolkipli-Cunningham, Z., Chatron, N., Lecoquierre, F. & Oler, A. J. & 82 others, Schmid, J. P., Kuhns, D. B., Xu, X., Hauck, F., Al-Herz, W., Wagner, M., Terhal, P. A., Muurinen, M., Barlogis, V., Cruz, P., Danielson, J., Stewart, H., Loid, P., Rading, S., Keren, B., Pfundt, R., Zarember, K. A., Vill, K., Potocki, L., Olivier, K. N., Lesca, G., Faivre, L., Wong, M., Puel, A., Chou, J., Tusseau, M., Moutsopoulos, N. M., Matthews, H. F., Simons, C., Taft, R. J., Soldatos, A., Masle-Farquhar, E., Pittaluga, S., Brink, R., Fink, D. L., Kong, H. H., Kabat, J., Kim, W. S., Bierhals, T., Meguro, K., Hsu, A. P., Gu, J., Stoddard, J., Banos-Pinero, B., Slack, M., Trivellin, G., Mazel, B., Soomann, M., Li, S., Watts, V. J., Stratakis, C. A., Rodriguez-Quevedo, M. F., Bruel, A. L., Lipsanen-Nyman, M., Saultier, P., Jain, R., Lehalle, D., Torres, D., Sullivan, K. E., Barbarot, S., Neu, A., Duffourd, Y., Similuk, M., McWalter, K., Blanc, P., Bézieau, S., Jin, T., Geha, R. S., Casanova, J. L., Mäkitie, O. M., Kubisch, C., Edery, P., Christodoulou, J., Germain, R. N., Goodnow, C. C., Sakmar, T. P., Billadeau, D. D., Küry, S., Katanaev, V. L., Zhang, Y., Lenardo, M. J. & Su, H. C., 20 Sept 2024, In: Science (New York, N.Y.). 385, 6715, 18 p., eadd8947.

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

Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly

Ahmad, S., Ali, M. Z., Muzammal, M., Khan, A. U., Ikram, M., Muurinen, M., Hussain, S., Loid, P., Khan, M. A. & Mäkitie, O., Apr 2023, In: Genes. 14, 4, 13 p., 869.

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

Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia

Reilly, M. L., ul Ain, N., Muurinen, M., Tata, A., Huber, C., Simon, M., Ishaq, T., Shaw, N., Rusanen, S., Pekkinen, M., Hogler, W., Knapen, M. F. C. M., van den Born, M., Saunier, S., Naz, S., Cormier-Daire, V., Benmerah, A. & Mäkitie, O., Sept 2022, In: Journal of Bone and Mineral Research. 37, 9, p. 1642-1652 11 p.

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

Case report: A novel de novo IGF2 missense variant in a Finnish patient with Silver-Russell syndrome

Loid, P., Lipsanen-Nyman, M., Ala-Mello, S., Hannula-Jouppi, K., Kere, J., Mäkitie, O. & Muurinen, M., 4 Oct 2022, In: Frontiers in pediatrics. 10, 6 p., 969881.

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