https://m2.mtmt.hu/ eng 2026-07-27 16:08 JournalArticle 32119912 VALIDATED true 0 false 2026-06-15T10:18:19.475+0000 2023-07-27T05:28:35.262+0000 2021-08-02T08:50:50.712+0000 true 10015544 Csajbók Edit /api/admin/10015544 Admin true 10015544 2021-09-11T18:01:33.346+0000 2021-09-11T18:01:33.346+0000 2021-09-11T18:01:49.724+0000 true 10015544 Csajbók Edit /api/admin/10015544 Admin true 10015544 2023-07-27T05:28:35.272+0000 true 10015544 Csajbók Edit /api/admin/10015544 Admin true 10015544 true 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 Zurek, Birte Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases true true /api/journal/7451 REVIEWED true false 7451 false 7451 true 1018-4813 1476-5438 Journal FOREIGN 29 1325 1331 1325 6 2021 For the first time in Europe hundreds of rare disease (RD) experts team up to actively share and jointly analyse existing patient's data. Solve-RD is a Horizon 2020-supported EU flagship project bringing together >300 clinicians, scientists, and patient representatives of 51 sites from 15 countries. Solve-RD is built upon a core group of four European Reference Networks (ERNs; ERN-ITHACA, ERN-RND, ERN-Euro NMD, ERN-GENTURIS) which annually see more than 270,000 RD patients with respective pathologies. The main ambition is to solve unsolved rare diseases for which a molecular cause is not yet known. This is achieved through an innovative clinical research environment that introduces novel ways to organise expertise and data. Two major approaches are being pursued (i) massive data re-analysis of >19,000 unsolved rare disease patients and (ii) novel combined -omics approaches. The minimum requirement to be eligible for the analysis activities is an inconclusive exome that can be shared with controlled access. The first preliminary data re-analysis has already diagnosed 255 cases form 8393 exomes/genome datasets. This unprecedented degree of collaboration focused on sharing of data and expertise shall identify many new disease genes and enable diagnosis of many so far undiagnosed patients from all over Europe. 2021 true true true false false NONE 2026-06-15 false 82 0 81 29 1 81 81 80 73 82 81 30 29 30 52 0 82 30 81 29 0 0 0 Folyóiratcikk Journal Article 24 81 Könyvrészlet Chapter in Book 25 0 Könyv Book 23 0 Egyéb konferenciaközlemény Conference paper 31 0 Egyéb konferenciakötet Conference proceedings 32 0 Oltalmi formák Protection forms 26 0 Disszertáció Thesis 28 1 Egyéb Miscellaneous 29 0 Alkotás Achievement 22 0 Kutatási adat Research data 33 0 Folyóiratcikk Journal Article 24 0 0 0 Könyvrészlet Chapter in Book 25 0 0 0 Könyv Book 23 0 0 0 Egyéb konferenciaközlemény Conference paper 31 0 0 0 Egyéb konferenciakötet Conference proceedings 32 0 0 0 Oltalmi formák Protection forms 26 0 0 0 Disszertáció Thesis 28 0 0 0 Egyéb Miscellaneous 29 0 0 0 Alkotás Achievement 22 0 0 0 Kutatási adat Research data 33 0 0 0 2021 0 5 3 5 3 2022 0 14 4 14 4 2023 0 19 9 19 9 2024 0 20 7 20 7 2025 0 17 7 17 7 2026 0 7 0 7 0 Q1 false false false false 2021-09-10T18:00:04.813+0000 Genomikai Medicina és Ritka Betegségek Intézete (SE / AOK / I) 2 11 1 29 211 true Language 10002 /api/language/10002 Angol English true 2 true PersonAuthorship 96924634 /api/authorship/96924634 1 0.03448276 true false false Zurek Birte true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 96924635 /api/authorship/96924635 2 0.03448276 false false false Ellwanger Kornelia true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 96924636 /api/authorship/96924636 3 0.03448276 false false false Vissers Lisenka E. 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L. M. </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Schuele Rebecca </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Synofzik Matthis </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Topf Ana </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >de Voer Richarda M. </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Laurie Steven </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Matalonga Leslie </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Gilissen Christian </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Ossowski Stephan </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >'t Hoen Peter A. C. </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Vitobello Antonio </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Schulze-Hentrich Julia M. </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Riess Olaf </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Brunner Han G. </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Brookes Anthony J. </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Rath Ana </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Bonne Gisele </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Gumus Gulcin </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Verloes Alain </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Hoogerbrugge Nicoline </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Evangelista Teresinha </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Harmuth Tina </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Swertz Morris </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Spalding Dylan </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Hoischen Alexander </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Beltran Sergi </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Graessner Holm ✉ </span> </div> <div class="autype autype-11"> Collaborator: <span class="author-name" >Olaf Riess </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10032403"><a href="/gui2/?type=authors&mode=browse&sel=10032403" target="_blank">Peter Balicza (<span class="authorship-author-name">Balicza Péter</span> <span class="authorAux-mtmt"> neurogenetika</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/Genomic Medicine and the Institute of Rare Diseases</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10002781"><a href="/gui2/?type=authors&mode=browse&sel=10002781" target="_blank">Maria Judit Molnar (<span class="authorship-author-name">Molnár Mária Judit</span> <span class="authorAux-mtmt"> Neurológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/Genomic Medicine and the Institute of Rare Diseases</span> ;&nbsp;&nbsp;&nbsp; et al. (211) </div> <div class="autype autype-29"> Collaborative Organization: <span class="author-affil">SOLVE-RD Consortium</span> </div> <div><a target="_blank" href="/api/publication/32119912?labelLang=eng">All authors</a></div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;32119912" target="_blank">Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases</a></div> <div> <span class="journal-title">EUROPEAN JOURNAL OF HUMAN GENETICS</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/1018-4813">1018-4813</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/1476-5438">1476-5438</a>)</span>: <span class="journal-volume">29</span> <span class="page"> pp 1325-1331 </span> <span class="year">(2021)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Language: English | </span> <span class="identifiers"> <span class="id identifier oa_none" title="none"> <a style="color:black" title="10.1038/s41431-021-00859-0" target="_blank" href="https://doi.org/10.1038/s41431-021-00859-0"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000656824000001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/000656824000001"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:black" title="85107583586" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85107583586"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:black" title="34075208" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=34075208&dopt=Abstract"> PubMed </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Journal subject: Scopus - Genetics (clinical)&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q1</div> <div class="journal-subject">Journal subject: Scopus - Genetics&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q1</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="" class="citingPub-count">Citing papers: 82</span> | Independent citation: 30 | Self citation: 52 | Unknown citation: 0 | Number of citations in WoS: 80 | Number of citations in Scopus:&nbsp;73 | WoS/Scopus assigned:&nbsp;82 | Number of citations with DOI:&nbsp;81 </div> <div class="mtid"><span class="long-pub-mtid">Publication: 32119912</span> | <span class="status-data status-VALIDATED"> Validated </span> Core | <span class="type-subtype">Journal Article ( Study Group ) </span> | <span class="pub-category">Scientific</span> | <span class="publication-sourceOfData">WOS TAGGED</span> </div> <div class="lastModified">Last Modified: 2023.07.27. 07:28 Edit Csajbók (SE_KK_Admin5_CSE, admin) </div> </div></div>