@article{MTMT:36279654,
	title = {Exome-based cancer predisposition gene testing can provide a genetic diagnosis for individuals with heterogeneous tumor phenotypes},
	url = {https://m2.mtmt.hu/api/publication/36279654},
	author = {Hinić, S. and Mensenkamp, A.R. and Schuurs-Hoeijmakers, J.H.M. and Brugnoletti, F. and Vreede, L. and van, Veen E.M. and Mijzen, B. and van, der Post R.S. and Genuardi, M. and Ligtenberg, M.J.L. and Hoogerbrugge, N. and de, Voer R.M.},
	doi = {10.1038/s41431-025-01814-z},
	journal-iso = {EUR J HUM GENET},
	journal = {EUROPEAN JOURNAL OF HUMAN GENETICS},
	volume = {33},
	unique-id = {36279654},
	issn = {1018-4813},
	year = {2025},
	eissn = {1476-5438},
	pages = {803-809}
}

@article{MTMT:36271874,
	title = {Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses},
	url = {https://m2.mtmt.hu/api/publication/36271874},
	author = {Laurie, S. and Steyaert, W. and de, Boer E. and Polavarapu, K. and Schuermans, N. and Sommer, A.K. and Demidov, G. and Ellwanger, K. and Paramonov, I. and Thomas, C. and Aretz, S. and Baets, J. and Benetti, E. and Bullich, G. and Chinnery, P.F. and Clayton-Smith, J. and Cohen, E. and Danis, D. and de, Sainte Agathe J.-M. and Denommé-Pichon, A.-S. and Diaz-Manera, J. and Efthymiou, S. and Faivre, L. and Fernandez-Callejo, M. and Freeberg, M. and Garcia-Pelaez, J. and Guillot-Noel, L. and Haack, T.B. and Hanna, M. and Hengel, H. and Horvath, R. and Houlden, H. and Jackson, A. and Johansson, L. and Johari, M. and Kamsteeg, E.-J. and Kellner, M. and Kleefstra, T. and Lacombe, D. and Lochmüller, H. and López-Martín, E. and Macaya, A. and Marcé-Grau, A. and Maver, A. and Morsy, H. and Muntoni, F. and Musacchia, F. and Nelson, I. and Nigro, V. and Olimpio, C. and Oliveira, C. and Paulasová, Schwabová J. and Pauly, M.G. and Peterlin, B. and Peters, S. and Pfundt, R. and Piluso, G. and Piscia, D. and Posada, M. and Reich, S. and Renieri, A. and Ryba, L. and Šablauskas, K. and Savarese, M. and Schöls, L. and Schütz, L. and Steinke-Lange, V. and Stevanin, G. and Straub, V. and Sturm, M. and Swertz, M.A. and Tartaglia, M. and te, Paske I.B.A.W. and Thompson, R. and Torella, A. and Trainor, C. and Udd, B. and Van, de Vondel L. and van, de Warrenburg B. and van, Reeuwijk J. and Vandrovcova, J. and Vitobello, A. and Vos, J. and Vyhnálková, E. and Wijngaard, R. and Wilke, C. and William, D. and Xu, J. and Yaldiz, B. and Zalatnai, L. and Zurek, B. and de, Voer R.M. and Vissers, L.E.L.M. and Brookes, A.J. and Evangelista, T. and Gilissen, C. and Graessner, H. and Hoogerbrugge, N. and Ossowski, S. and Riess, O. and Schüle, R. and Synofzik, M. and Verloes, A. and Matalonga, L. and Brunner, H.G. and Lohmann, K. and Töpf, A. and Beltran, S. and Hoischen, A.},
	doi = {10.1038/s41591-024-03420-w},
	journal-iso = {NAT MED},
	journal = {NATURE MEDICINE},
	volume = {31},
	unique-id = {36271874},
	issn = {1078-8956},
	year = {2025},
	eissn = {1546-170X},
	pages = {478-489}
}