https://m2.mtmt.hu/ hun 2026-07-26 10:51 JournalArticle 36271874 VALIDATED true 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. 0 false 2026-02-02T10:10:14.036+0000 2025-08-04T11:53:49.858+0000 2025-07-29T13:11:00.550+0000 true 10015544 Csajbók Edit /api/admin/10015544 Admin true 10015544 2025-12-31T08:09:25.661+0000 2025-08-04T11:53:50.113+0000 true 10015544 Csajbók Edit /api/admin/10015544 Admin true 10015544 false false true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle true 10000359 Study Group true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle /api/subtype/10000359 Sokszerzős vagy csoportos szerzőségű szakcikk SubType 104 true 10000359 true 1 /api/category/1 Category true 1 Laurie, S. 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<div class="authors"> <img title="Idézőközlemény" style="float: left" src="/frontend/resources/grid/publication-citation-icon.png"> <div class="autype autype0"> <span class="author-name" >Laurie S. </span> ;&nbsp;&nbsp;&nbsp; et al. (109) </div> <div><a target="_blank" href="/api/publication/36271874?labelLang=hun">Összes szerző</a></div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;36271874" target="_blank">Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses</a></div> <div> <span class="journal-title">NATURE MEDICINE</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/1078-8956">1078-8956</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/1546-170X">1546-170X</a>)</span>: <span class="journal-volume">31</span> <span class="journal-issue">2</span> <span class="page"> pp 478-489 </span> <span class="year">(2025)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Nyelv: Angol | </span> <span class="identifiers"> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="10.1038/s41591-024-03420-w" target="_blank" href="https://doi.org/10.1038/s41591-024-03420-w"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="001439574500001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/001439574500001"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85217578337" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85217578337"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="39825153" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=39825153&dopt=Abstract"> PubMed </a> </span> </span> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;36271874&sort=publishedYear,desc&sort=title"> Idézett közlemények száma: 7 </a> </div> <div class="mtid"><span class="long-pub-mtid">Közlemény: 36271874</span> | <span class="status-data status-VALIDATED"> Egyeztetett </span> Idéző | <span class="type-subtype">Folyóiratcikk ( Sokszerzős vagy csoportos szerzőségű szakcikk ) </span> | <span class="pub-category">Tudományos</span> | <span class="publication-sourceOfData">Scopus</span> </div> <div class="lastModified">Utolsó módosítás: 2025.08.04. 13:53 Csajbók Edit (SE_KK_Admin5_CSE, admin) </div> <pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Megjegyzés</u>: 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 Unio...</pre> </div></div>