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@ARTICLE{Zurek:155536,
author = {Zurek, Birte and Ellwanger, Kornelia and Vissers, Lisenka E
L M and Schüle, Rebecca and Synofzik, Matthis and Töpf,
Ana and de Voer, Richarda M and Laurie, Steven and
Matalonga, Leslie and Gilissen, Christian and Ossowski,
Stephan and 't Hoen, Peter A C and Vitobello, Antonio and
Schulze-Hentrich, Julia M and Riess, Olaf and Brunner, Han G
and Brookes, Anthony J and Rath, Ana and Bonne, Gisèle and
Gumus, Gulcin and Verloes, Alain and Hoogerbrugge, Nicoline
and Evangelista, Teresinha and Harmuth, Tina and Swertz,
Morris and Spalding, Dylan and Hoischen, Alexander and
Beltran, Sergi and Graessner, Holm and Haack, Tobias B and
Zurek, Birte and Ellwanger, Kornelia and Demidov, German and
Sturm, Marc and Brunner, Han and Scheffer, Hans and
Steyaert, Wouter and Sablauskas, Karolis and de Voer,
Richarda M and Kamsteeg, Erik-Jan and van de Warrenburg,
Bart and van Os, Nienke and Te Paske, Iris and Janssen, Erik
and de Boer, Elke and Steehouwer, Marloes and Yaldiz, Burcu
and Kleefstra, Tjitske and Veal, Colin and Gibson, Spencer
and Wadsley, Marc and Mehtarizadeh, Mehdi and Riaz, Umar and
Warren, Greg and Dizjikan, Farid Yavari and Shorter, Thomas
and Straub, Volker and Bettolo, Chiara Marini and Specht,
Sabine and Clayton-Smith, Jill and Banka, Siddharth and
Alexander, Elizabeth and Jackson, Adam and Faivre, Laurence
and Thauvin, Christel and Vitobello, Antonio and
Denommé-Pichon, Anne-Sophie and Duffourd, Yannis and
Tisserant, Emilie and Bruel, Ange-Line and Peyron, Christine
and Pélissier, Aurore and Beltran, Sergi and Gut, Ivo
Glynne and Laurie, Steven and Piscia, Davide and Matalonga,
Leslie and Papakonstantinou, Anastasios and Bullich, Gemma
and Corvo, Alberto and Garcia, Carles and Fernandez-Callejo,
Marcos and Hernández, Carles and Picó, Daniel and
Paramonov, Ida and Lochmüller, Hanns and Gumus, Gulcin and
Bros-Facer, Virginie and Hanauer, Marc and Olry, Annie and
Lagorce, David and Havrylenko, Svitlana and Izem, Katia and
Rigour, Fanny and Stevanin, Giovanni and Davoine,
Claire-Sophie and Guillot-Noel, Léna and Heinzmann, Anna
and Coarelli, Giulia and Allamand, Valérie and Nelson,
Isabelle and Yaou, Rabah Ben and Metay, Corinne and Eymard,
Bruno and Cohen, Enzo and Atalaia, Antonio and Stojkovic,
Tanya and Macek, Milan and Turnovec, Marek and Thomasová,
Dana and Kremliková, Radka Pourová and Franková, Vera and
Havlovicová, Markéta and Kremlik, Vlastimil and Parkinson,
Helen and Keane, Thomas and Senf, Alexander and Robinson,
Peter and Danis, Daniel and Robert, Glenn and Costa, Alessia
and Patch, Christine and Hanna, Mike and Houlden, Henry and
Reilly, Mary and Vandrovcova, Jana and Muntoni, Francesco
and Zaharieva, Irina and Sarkozy, Anna and Timmerman,
Vincent and Baets, Jonathan and Van de Vondel, Liedewei and
Beijer, Danique and de Jonghe, Peter and Nigro, Vincenzo and
Banfi, Sandro and Torella, Annalaura and Musacchia,
Francesco and Piluso, Giulio and Ferlini, Alessandra and
Selvatici, Rita and Rossi, Rachele and Neri, Marcella and
Aretz, Stefan and Spier, Isabel and Sommer, Anna Katharina
and Peters, Sophia and Oliveira, Carla and Pelaez, Jose
Garcia and Matos, Ana Rita and José, Celina São and
Ferreira, Marta and Gullo, Irene and Fernandes, Susana and
Garrido, Luzia and Ferreira, Pedro and Carneiro, Fátima and
Swertz, Morris A and Johansson, Lennart and van der Velde,
Joeri K and van der Vries, Gerben and Neerincx, Pieter B and
Roelofs-Prins, Dieuwke and Köhler, Sebastian and Metcalfe,
Alison and Verloes, Alain and Drunat, Séverine and Rooryck,
Caroline and Trimouille, Aurelien and Castello, Raffaele and
Morleo, Manuela and Pinelli, Michele and Varavallo,
Alessandra and De la Paz, Manuel Posada and Sánchez, Eva
Bermejo and Martín, Estrella López and Delgado, Beatriz
Martínez and de la Rosa, F Javier Alonso García and
Ciolfi, Andrea and Dallapiccola, Bruno and Pizzi, Simone and
Radio, Francesca Clementina and Tartaglia, Marco and
Renieri, Alessandra and Benetti, Elisa and Balicza, Peter
and Molnar, Maria Judit and Maver, Ales and Peterlin, Borut
and Münchau, Alexander and Herzog, Rebecca and Pauly,
Martje and Macaya, Alfons and Marcé-Grau, Anna and Osorio,
Andres Nascimiento and de Benito, Daniel Natera and
Lochmüller, Hanns and Thompson, Rachel and Polavarapu,
Kiran and Beeson, David and Cossins, Judith and Cruz, Pedro
M Rodriguez and Hackman, Peter and Johari, Mridul and
Savarese, Marco and Udd, Bjarne and Horvath, Rita and
Capella, Gabriel and Valle, Laura and Holinski-Feder, Elke
and Laner, Andreas and Steinke-Lange, Verena and Schröck,
Evelin and Rump, Andreas},
collaboration = {consortium, Solve-RD},
othercontributors = {Kessler, Christoph and Wayand, Melanie and Wilke, Carlo and
Traschuetz, Andreas and Schöls, Ludger and Hengel, Holger
and Heutink, Peter and Dürr, Alexandra and Lohmann, Katja},
title = {{S}olve-{RD}: systematic pan-{E}uropean data sharing and
collaborative analysis to solve rare diseases.},
journal = {European journal of human genetics},
volume = {29},
number = {9},
issn = {1018-4813},
address = {Basingstoke},
publisher = {Stockton Press},
reportid = {DZNE-2021-00715},
pages = {1325-1331},
year = {2021},
abstract = {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.},
keywords = {Consensus Development Conferences as Topic / Europe /
Genetic Diseases, Inborn: diagnosis / Genetic Diseases,
Inborn: genetics / Genetic Testing: methods / Humans /
Information Dissemination / Intersectoral Collaboration /
Rare Diseases: diagnosis / Rare Diseases: genetics / Exome
Sequencing: methods},
cin = {AG Gasser 1 / AG Maetzler},
ddc = {610},
cid = {I:(DE-2719)1210000 / I:(DE-2719)5000024},
pnm = {353 - Clinical and Health Care Research (POF4-353)},
pid = {G:(DE-HGF)POF4-353},
typ = {PUB:(DE-HGF)16},
pmc = {pmc:PMC8440542},
pubmed = {pmid:34075208},
doi = {10.1038/s41431-021-00859-0},
url = {https://pub.dzne.de/record/155536},
}
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