![]() | Fernandes, D. M., Llanos-Lizcano, A., Brück, F., Oberreiter, V., Özdoğan, K. T., Cheronet, O., Lucci, M., Beckers, A., Pétrossians, P., Coppa, A., Pinhasi, R., & Daly, A. (29 January 2026). A 12,000-Year-Old Case of NPR2-Related Acromesomelic Dysplasia. New England Journal of Medicine, 394 (5), 513-515. doi:10.1056/NEJMc2513616 Peer Reviewed verified by ORBi |
![]() | Daly, A., Dunnington, L. A., Rodriguez-Buritica, D. F., Spiegel, E., Brancati, F., Mantovani, G., Rawal, V. M., Faucz, F. R., Hijazi, H., CABERG, J.-H., Nardone, A. M., Bengala, M., Fortugno, P., Del Sindaco, G., Ragonese, M., Gould, H., Cannavò, S., Pétrossians, P., Lania, A., ... Franke, M. (13 September 2024). Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus. Genome Medicine, 16 (1), 112. doi:10.1186/s13073-024-01378-5 Peer Reviewed verified by ORBi |
![]() | Franke, M.* , Daly, A.* , Palmeira, L., Tirosh, A., Stigliano, A., Trifan, E., Faucz, F. R., Abboud, D., PETROSSIANS, P., Tena, J. J., Vitali, E., Lania, A. G., Gómez-Skarmeta, J. L., BECKERS, A.* , Stratakis, C. A.* , & Trivellin, G.*. (2022). Duplications disrupt chromatin architecture and rewire GPR101-enhancer communication in X-linked acrogigantism. American Journal of Human Genetics. doi:10.1016/j.ajhg.2022.02.002 Peer Reviewed verified by ORBi* These authors have contributed equally to this work. |
![]() | Trivellin, G.* , Daly, A.* , Faucz, F. R., Yuan, B., Rostomyan, L., Larco, D. O., Schernthaner-Reiter, M. H., Szarek, E., Leal, L. F., CABERG, J.-H., CASTERMANS, E., Villa, C., Dimopoulos, A., Chittiboina, P., Xekouki, P., Shah, N. S., Metzger, D., Lysy, P. A., Ferrante, E., ... Stratakis, C. A.*. (2014). Gigantism and Acromegaly Due to Xq26 Microduplications and GPR101 Mutation. New England Journal of Medicine. doi:10.1056/NEJMoa1408028 Peer Reviewed verified by ORBi* These authors have contributed equally to this work. |
![]() | Daly, A., Jaffrain-Rea, M.-L., Ciccarelli, A., Valdes Socin, H. G., Rohmer, V., Tamburrano, G., Borson-Chazot, C., Estour, B., Ciccarelli, E., Brue, T., Ferolla, P., Emy, P., Colao, A., De Menis, E., Lecomte, P., Penfornis, F., Delemer, B., Bertherat, J., Wemeau, J. L., ... Beckers, A. (September 2006). Clinical characterization of familial isolated pituitary adenomas. Journal of Clinical Endocrinology and Metabolism, 91 (9), 3316-23. doi:10.1210/jc.2005-2671 Peer Reviewed verified by ORBi |