Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

Title:	Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Authors:	Laurie, Steven^{Aff1, Aff2}; Steyaert, Wouter^{Aff3, Aff4}; de Boer, Elke^{Aff3, Aff5}; Polavarapu, Kiran^Aff6; Schuermans, Nika^{Aff7, Aff8, Aff9}; Sommer, Anna K.^Aff10; Demidov, German^Aff11; Ellwanger, Kornelia^Aff11; Paramonov, Ida^{Aff1, Aff2}; Thomas, Coline^Aff12; Aretz, Stefan^{Aff10, Aff13}; Baets, Jonathan^{Aff14, Aff15, Aff16}; Benetti, Elisa^{Aff17, Aff18}; Bullich, Gemma^{Aff1, Aff2}; Chinnery, Patrick F.^{Aff19, Aff20}; Clayton-Smith, Jill^{Aff21, Aff22}; Cohen, Enzo^Aff23; Danis, Daniel^Aff24; de Sainte Agathe, Jean-Madeleine^Aff25; Denommé-Pichon, Anne-Sophie^{Aff26, Aff27}; Diaz-Manera, Jordi^Aff28; Efthymiou, Stephanie^Aff29; Faivre, Laurence^{Aff26, Aff30, Aff31, Aff32, Aff33}; Fernandez-Callejo, Marcos^{Aff1, Aff2}; Freeberg, Mallory^Aff12; Garcia-Pelaez, José^{Aff34, Aff35, Aff36}; Guillot-Noel, Lena^Aff37; Haack, Tobias B.^Aff11; Hanna, Mike^Aff38; Hengel, Holger^{Aff39, Aff40}; Horvath, Rita^Aff19; Houlden, Henry^Aff29; Jackson, Adam^{Aff21, Aff22}; Johansson, Lennart^Aff41; Johari, Mridul^Aff42; Kamsteeg, Erik-Jan^Aff3; Kellner, Melanie^{Aff39, Aff40}; Kleefstra, Tjitske^{Aff3, Aff5, Aff43, Aff44}; Lacombe, Didier^{Aff45, Aff46}; Lochmüller, Hanns^{Aff1, Aff6, Aff47, Aff48, Aff49}; López-Martín, Estrella^Aff50; Macaya, Alfons^Aff51; Marcé-Grau, Anna^Aff51; Maver, Aleš^Aff52; Morsy, Heba^{Aff29, Aff53}; Muntoni, Francesco^{Aff54, Aff55}; Musacchia, Francesco^{Aff56, Aff57}; Nelson, Isabelle^Aff23; Nigro, Vincenzo^{Aff56, Aff57}; Olimpio, Catarina^{Aff19, Aff58}; Oliveira, Carla^{Aff35, Aff36, Aff37}; Paulasová Schwabová, Jaroslava^Aff59; Pauly, Martje G.^{Aff60, Aff61, Aff62}; Peterlin, Borut^Aff52; Peters, Sophia^Aff10; Pfundt, Rolph^{Aff3, Aff5}; Piluso, Giulio^Aff56; Piscia, Davide^{Aff1, Aff2}; Posada, Manuel^Aff50; Reich, Selina^{Aff39, Aff40}; Renieri, Alessandra^{Aff17, Aff18, Aff63}; Ryba, Lukas^Aff64; Šablauskas, Karolis^{Aff3, Aff65}; Savarese, Marco^Aff42; Schöls, Ludger^{Aff39, Aff40}; Schütz, Leon^Aff11; Steinke-Lange, Verena^{Aff66, Aff67}; Stevanin, Giovanni^Aff37; Straub, Volker^Aff28; Sturm, Marc^Aff11; Swertz, Morris A.^Aff41; Tartaglia, Marco^Aff68; te Paske, Iris B. A. W.^{Aff3, Aff4}; Thompson, Rachel^Aff6; Torella, Annalaura^{Aff56, Aff57}; Trainor, Christina^Aff28; Udd, Bjarne^{Aff42, Aff69, Aff70}; Van de Vondel, Liedewei^{Aff14, Aff15, Aff71}; van de Warrenburg, Bart^{Aff5, Aff72}; van Reeuwijk, Jeroen^{Aff3, Aff5}; Vandrovcova, Jana^Aff29; Vitobello, Antonio^{Aff26, Aff27}; Vos, Janet^{Aff3, Aff4}; Vyhnálková, Emílie^Aff64; Wijngaard, Robin^{Aff3, Aff4}; Wilke, Carlo^{Aff39, Aff40}; William, Doreen^{Aff73, Aff74}; Xu, Jishu^{Aff11, Aff39, Aff40}; Yaldiz, Burcu^Aff3; Zalatnai, Luca^{Aff1, Aff2}; Zurek, Birte^Aff11; Brookes, Anthony J.^Aff75; Evangelista, Teresinha^Aff23; Gilissen, Christian^{Aff3, Aff4}; Graessner, Holm^{Aff11, Aff76}; Hoogerbrugge, Nicoline^{Aff3, Aff4}; Ossowski, Stephan^{Aff11, Aff77}; Riess, Olaf^{Aff11, Aff76}; Schüle, Rebecca^{Aff39, Aff40}; Synofzik, Matthis^{Aff39, Aff40}; Verloes, Alain^{Aff78, Aff79}; Matalonga, Leslie^{Aff1, Aff2}; Brunner, Han G.^{Aff3, Aff5, Aff80}; Lohmann, Katja^Aff61; de Voer, Richarda M.^{Aff3, Aff4}; Töpf, Ana^Aff28; Vissers, Lisenka E.L.M.^{Aff3, Aff5}; Beltran, Sergi^{Aff1, Aff81}; Hoischen, Alexander^{Aff3, Aff4, Aff82}; Beltran, Sergi^{Aff1, Aff81, IDIAu5_cor1}; Hoischen, Alexander^{Aff3, Aff4, Aff82, IDIAu5_cor2}
Source:	Nature Medicine. 31(2):478-489
Database:	Springer Nature Journals