TY  - JOUR
AU  - Hinić, S.
AU  - Mensenkamp, A.R.
AU  - Schuurs-Hoeijmakers, J.H.M.
AU  - Brugnoletti, F.
AU  - Vreede, L.
AU  - van, Veen E.M.
AU  - Mijzen, B.
AU  - van, der Post R.S.
AU  - Genuardi, M.
AU  - Ligtenberg, M.J.L.
AU  - Hoogerbrugge, N.
AU  - de, Voer R.M.
TI  - Exome-based cancer predisposition gene testing can provide a genetic diagnosis for individuals with heterogeneous tumor phenotypes
JF  - EUROPEAN JOURNAL OF HUMAN GENETICS
J2  - EUR J HUM GENET
VL  - 33
PY  - 2025
IS  - 6
SP  - 803
EP  - 809
PG  - 7
SN  - 1018-4813
DO  - 10.1038/s41431-025-01814-z
UR  - https://m2.mtmt.hu/api/publication/36279654
ID  - 36279654
N1  - Department of Human Genetics, Research Institute for Medical Innovation, Radboud university medical center, Nijmegen, Netherlands            
            Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy            
            European Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, Netherlands            
            Department of Pathology, Research Institute for Medical Innovation, Radboud university medical center, Nijmegen, Netherlands            
            Medical Genetics Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy            
            Export Date: 04 August 2025; Cited By: 1; Correspondence Address: R.M. de Voer; Department of Human Genetics, Research Institute for Medical Innovation, Radboud university medical center, Nijmegen, Netherlands; email: richarda.devoer@radboudumc.nl; CODEN: EJHGE
LA  - English
DB  - MTMT
ER  - 

TY  - JOUR
AU  - Laurie, S.
AU  - Steyaert, W.
AU  - de, Boer E.
AU  - Polavarapu, K.
AU  - Schuermans, N.
AU  - Sommer, A.K.
AU  - Demidov, G.
AU  - Ellwanger, K.
AU  - Paramonov, I.
AU  - Thomas, C.
AU  - Aretz, S.
AU  - Baets, J.
AU  - Benetti, E.
AU  - Bullich, G.
AU  - Chinnery, P.F.
AU  - Clayton-Smith, J.
AU  - Cohen, E.
AU  - Danis, D.
AU  - de, Sainte Agathe J.-M.
AU  - Denommé-Pichon, A.-S.
AU  - Diaz-Manera, J.
AU  - Efthymiou, S.
AU  - Faivre, L.
AU  - Fernandez-Callejo, M.
AU  - Freeberg, M.
AU  - Garcia-Pelaez, J.
AU  - Guillot-Noel, L.
AU  - Haack, T.B.
AU  - Hanna, M.
AU  - Hengel, H.
AU  - Horvath, R.
AU  - Houlden, H.
AU  - Jackson, A.
AU  - Johansson, L.
AU  - Johari, M.
AU  - Kamsteeg, E.-J.
AU  - Kellner, M.
AU  - Kleefstra, T.
AU  - Lacombe, D.
AU  - Lochmüller, H.
AU  - López-Martín, E.
AU  - Macaya, A.
AU  - Marcé-Grau, A.
AU  - Maver, A.
AU  - Morsy, H.
AU  - Muntoni, F.
AU  - Musacchia, F.
AU  - Nelson, I.
AU  - Nigro, V.
AU  - Olimpio, C.
AU  - Oliveira, C.
AU  - Paulasová, Schwabová J.
AU  - Pauly, M.G.
AU  - Peterlin, B.
AU  - Peters, S.
AU  - Pfundt, R.
AU  - Piluso, G.
AU  - Piscia, D.
AU  - Posada, M.
AU  - Reich, S.
AU  - Renieri, A.
AU  - Ryba, L.
AU  - Šablauskas, K.
AU  - Savarese, M.
AU  - Schöls, L.
AU  - Schütz, L.
AU  - Steinke-Lange, V.
AU  - Stevanin, G.
AU  - Straub, V.
AU  - Sturm, M.
AU  - Swertz, M.A.
AU  - Tartaglia, M.
AU  - te, Paske I.B.A.W.
AU  - Thompson, R.
AU  - Torella, A.
AU  - Trainor, C.
AU  - Udd, B.
AU  - Van, de Vondel L.
AU  - van, de Warrenburg B.
AU  - van, Reeuwijk J.
AU  - Vandrovcova, J.
AU  - Vitobello, A.
AU  - Vos, J.
AU  - Vyhnálková, E.
AU  - Wijngaard, R.
AU  - Wilke, C.
AU  - William, D.
AU  - Xu, J.
AU  - Yaldiz, B.
AU  - Zalatnai, L.
AU  - Zurek, B.
AU  - de, Voer R.M.
AU  - Vissers, L.E.L.M.
AU  - Brookes, A.J.
AU  - Evangelista, T.
AU  - Gilissen, C.
AU  - Graessner, H.
AU  - Hoogerbrugge, N.
AU  - Ossowski, S.
AU  - Riess, O.
AU  - Schüle, R.
AU  - Synofzik, M.
AU  - Verloes, A.
AU  - Matalonga, L.
AU  - Brunner, H.G.
AU  - Lohmann, K.
AU  - Töpf, A.
AU  - Beltran, S.
AU  - Hoischen, A.
TI  - Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
JF  - NATURE MEDICINE
J2  - NAT MED
VL  - 31
PY  - 2025
IS  - 2
SP  - 478
EP  - 489
PG  - 12
SN  - 1078-8956
DO  - 10.1038/s41591-024-03420-w
UR  - https://m2.mtmt.hu/api/publication/36271874
ID  - 36271874
N1  - Funding Agency and Grant Number: European Union [101080997]; ERN RND [101155994, 101156434]; ERN GENTURIS [101155809]; Instituto de Salud CarlosIII [PT13/0001/0044, PT17/0009/0019]; Instituto Nacional de Bioinformatica, ELIXIR-EXCELERATE; EU; ELIXIR Implementation Studies [ELIXIR IT-2017-INTEGRATION, Beacon ELIXIR 2019-2021, 001-P-001647]; European Regional Development Fund of the European Union; (Secretaria d'Universitats i Recerca del Departament d'Empresa i Coneixement de la Generalitat de Catalunya) [SLT002/16/00174]; (Departament de Salut, Generalitat de Catalunya); Spanish academic and research network RedIris; Netherlands Science Organizations; NWO VIDI [917.164.55]; Ministero della Salute [T3-AN-04, GTB12001]; EuroBioBank network; Canadian Institutes of Health Research (CIHR) for Foundation [FDN-167281, ERT-174211, OR2-189333 (NMD4C)]; Canada Foundation for Innovation; CFI-JELF [38412]; Canada Research Chairs program (Canada Research Chair in Neuromuscular Genomics and Health) [950-232279]; European Commission [101080249]; Canada Research Coordinating Committee New Frontiers in Research Fund [NFRFG-2022-00033]; Government of Canada First Research Excellence Fund (CFREF) [CFREF-2022-00007]; CIHR postdoctoral fellowship [MFE-491707]; Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) [441409627, 825575]; Else Kroner-Fresenius-Stiftung [LX22NPO5107]; European Union - Next Generation EU; ZonMW; Gossweiler Foundation; Hersenstichting; Muscular Dystrophy UK; Muscular Dystrophy USA
            Funding text: The Solve-RD consortium thanks all involved rare-disease patients and their families, as well as other contributors to Solve-RD. The Solve-RD project has received funding from the European Union's Horizon 2020 research and innovation program under grant agreement no. 779257 (to all authors). This research is supported (not financially) by four ERNs: ERN ITHACA (project ID no. 101085231), ERN RND (project ID no. 101155994), ERN EURO-NMD (project ID no. 101156434) and ERN GENTURIS (project ID no. 101155809). All ERNs are cofunded by the European Union within the framework of the Third Health Programme. The RD-Connect GPAP was developed under funded project FP7/2007-2013 (grant agreement no. 305444) and ongoing funding from EJPRD (grant nos. H2020 779257 and H2020 825575), further supported by Instituto de Salud CarlosIII (grant nos. PT13/0001/0044 and PT17/0009/0019), Instituto Nacional de Bioinformatica, ELIXIR-EXCELERATE (grant no. EU H2020 676559); and ELIXIR Implementation Studies (remote real-time visualization of human rare disease genomics data, RD-Connect, stored at EGA ELIXIR 2017-2018, ELIXIR IT-2017-INTEGRATION, Rare Disease Infrastructure ELIXIR 2019-2020 and Beacon ELIXIR 2019-2021). The RD-Connect GPAP has leveraged developments funded through the project VEIS (no. 001-P-001647, cofinanced by the European Regional Development Fund of the European Union within the framework of the Operational Program FEDER of Catalonia 2014-2020, and with the support of Secretaria d'Universitats i Recerca del Departament d'Empresa i Coneixement de la Generalitat de Catalunya) and URD-Cat (no. PERIS SLT002/16/00174, Departament de Salut, Generalitat de Catalunya). The Spanish academic and research network RedIris (https://www.rediris.es/) provided the Aspera service used for uploading raw data for processing to the RD-Connect GPAP, and for transfer of data between centers. We further acknowledge support from the Netherlands Science Organizations (grant no. NWO VIDI 917.164.55 to C.G.), Ministero della Salute (Genoma mEdiciNa pERsonalizzatA, grant no. T3-AN-04, to V.N., A.R. and M.T.), the Network for Italian Genomes, Cell lines and DNA bank of Rett Syndrome, X-linked mental retardation and other genetic diseases, member of the Telethon Network of Genetic Biobanks (project no. GTB12001) and the EuroBioBank network. H.L. receives support from the Canadian Institutes of Health Research (CIHR) for Foundation Grant no. FDN-167281 (Precision Health for Neuromuscular Diseases), Transnational Team Grant no. ERT-174211 (ProDGNE) and Network Grant no. OR2-189333 (NMD4C), the Canada Foundation for Innovation (no. CFI-JELF 38412), the Canada Research Chairs program (Canada Research Chair in Neuromuscular Genomics and Health, no. 950-232279), the European Commission (grant no. 101080249), the Canada Research Coordinating Committee New Frontiers in Research Fund (no. NFRFG-2022-00033) for SIMPATHIC and from the Government of Canada First Research Excellence Fund (CFREF) for the Brain-Heart Interconnectome (no. CFREF-2022-00007). K.P. is a recipient of a CIHR postdoctoral fellowship under award no. MFE-491707. This work was also supported by Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) no. 441409627, as part of the PROSPAX consortium under the framework of the European Joint Programme on Rare Diseases, under EJP RD COFUND-EJP no. 825575 (to M. Synofzik, R.S. and R.H.) and the Clinician Scientist programme PRECISE.net, funded by Else Kroner-Fresenius-Stiftung (to C.W., M.K., R.S. and M. Synofzik). J.P.S. was financed by Programme EXCELES (ID project no. LX22NPO5107), funded by the European Union - Next Generation EU. B.v.d.W. is supported by ZonMW, the Gossweiler Foundation and Hersenstichting. The work of F. Muntoni was also supported by Muscular Dystrophy UK and Muscular Dystrophy USA. H.G. and T.B.H. are supported by the European Union's Horizon 2020 research and innovation program, project Recon4IMD (grant no. 101080997). The funders had no role in study design, data collection and analysis, decision to publish or preparation of the manuscript.
LA  - English
DB  - MTMT
ER  -