%0 Journal Article
%A Laurie, Steven
%A Steyaert, Wouter
%A de Boer, Elke
%A Polavarapu, Kiran
%A Schuermans, Nika
%A Sommer, Anna K
%A Demidov, German
%A Ellwanger, Kornelia
%A Paramonov, Ida
%A Thomas, Coline
%A Aretz, Stefan
%A Baets, Jonathan
%A Benetti, Elisa
%A Bullich, Gemma
%A Chinnery, Patrick F
%A Clayton-Smith, Jill
%A Cohen, Enzo
%A Danis, Daniel
%A de Sainte Agathe, Jean-Madeleine
%A Denommé-Pichon, Anne-Sophie
%A Diaz-Manera, Jordi
%A Efthymiou, Stephanie
%A Faivre, Laurence
%A Fernandez-Callejo, Marcos
%A Freeberg, Mallory
%A Garcia-Pelaez, José
%A Guillot-Noel, Lena
%A Haack, Tobias B
%A Hanna, Mike
%A Hengel, Holger
%A Horvath, Rita
%A Houlden, Henry
%A Jackson, Adam
%A Johansson, Lennart
%A Johari, Mridul
%A Kamsteeg, Erik-Jan
%A Kellner, Melanie
%A Kleefstra, Tjitske
%A Lacombe, Didier
%A Lochmüller, Hanns
%A López-Martín, Estrella
%A Macaya, Alfons
%A Marcé-Grau, Anna
%A Maver, Aleš
%A Morsy, Heba
%A Muntoni, Francesco
%A Musacchia, Francesco
%A Nelson, Isabelle
%A Nigro, Vincenzo
%A Olimpio, Catarina
%A Oliveira, Carla
%A Paulasová Schwabová, Jaroslava
%A Pauly, Martje G
%A Peterlin, Borut
%A Peters, Sophia
%A Pfundt, Rolph
%A Piluso, Giulio
%A Piscia, Davide
%A Posada, Manuel
%A Reich, Selina
%A Renieri, Alessandra
%A Ryba, Lukas
%A Šablauskas, Karolis
%A Savarese, Marco
%A Schöls, Ludger
%A Schütz, Leon
%A Steinke-Lange, Verena
%A Stevanin, Giovanni
%A Straub, Volker
%A Sturm, Marc
%A Swertz, Morris A
%A Tartaglia, Marco
%A Te Paske, Iris B A W
%A Thompson, Rachel
%A Torella, Annalaura
%A Trainor, Christina
%A Udd, Bjarne
%A Van de Vondel, Liedewei
%A van de Warrenburg, Bart
%A van Reeuwijk, Jeroen
%A Vandrovcova, Jana
%A Vitobello, Antonio
%A Vos, Janet
%A Vyhnálková, Emílie
%A Wijngaard, Robin
%A Wilke, Carlo
%A William, Doreen
%A Xu, Jishu
%A Yaldiz, Burcu
%A Zalatnai, Luca
%A Zurek, Birte
%A Brookes, Anthony J
%A Evangelista, Teresinha
%A Gilissen, Christian
%A Graessner, Holm
%A Hoogerbrugge, Nicoline
%A Ossowski, Stephan
%A Riess, Olaf
%A Schüle, Rebecca
%A Synofzik, Matthis
%A Verloes, Alain
%A Matalonga, Leslie
%A Brunner, Han G
%A Lohmann, Katja
%A de Voer, Richarda M
%A Töpf, Ana
%A Vissers, Lisenka E L M
%A Beltran, Sergi
%A Hoischen, Alexander
%T Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
%J Nature medicine
%V 31
%N 2
%@ 1078-8956
%C [New York, NY]
%I Springer Nature
%M DZNE-2025-00325
%P 478 - 489
%D 2025
%X Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease data (94.5
%K Humans
%K Rare Diseases: genetics
%K Rare Diseases: diagnosis
%K Europe
%K Male
%K Genomics: methods
%K Female
%K Pedigree
%K Databases, Genetic
%K Computational Biology: methods
%K Genome, Human: genetics
%K Exome: genetics
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:39825153
%R 10.1038/s41591-024-03420-w
%U https://pub.dzne.de/record/276800