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    Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses von Laurie, Steven, Steyaert, Wouter, de Boer, Elke, Polavarapu, Kiran, Schuermans, Nika, Sommer, Anna K, Demidov, German, Ellwanger, Kornelia, Paramonov, Ida, Thomas, Coline, Aretz, Stefan, Baets, Jonathan, Benetti, Elisa, Bullich, Gemma, Chinnery, Patrick F, Clayton-Smith, Jill, Cohen, Enzo, Danis, Daniel, de Sainte Agathe, Jean-Madeleine, Denommé-Pichon, Anne-Sophie, Diaz-Manera, Jordi, Efthymiou, Stephanie, Faivre, Laurence, Fernandez-Callejo, Marcos, Freeberg, Mallory, Garcia-Pelaez, José, Guillot-Noel, Lena, Haack, Tobias B, Hanna, Mike, Hengel, Holger, Horvath, Rita, Houlden, Henry, Jackson, Adam, Johansson, Lennart, Johari, Mridul, Kamsteeg, Erik-Jan, Kellner, Melanie, Kleefstra, Tjitske, Lacombe, Didier, Lochmüller, Hanns, López-Martín, Estrella, Macaya, Alfons, Marcé-Grau, Anna, Maver, Aleš, Morsy, Heba, Muntoni, Francesco, Musacchia, Francesco, Nelson, Isabelle, Nigro, Vincenzo, Olimpio, Catarina, Oliveira, Carla, Paulasová Schwabová, Jaroslava, Pauly, Martje G, Peterlin, Borut, Peters, Sophia, Pfundt, Rolph, Piluso, Giulio, Piscia, Davide, Posada, Manuel, Reich, Selina, Renieri, Alessandra, Ryba, Lukas, Šablauskas, Karolis, Savarese, Marco, Schöls, Ludger, Schütz, Leon, Steinke-Lange, Verena, Stevanin, Giovanni, Straub, Volker, Sturm, Marc, Swertz, Morris A, Tartaglia, Marco, Te Paske, Iris B A W, Thompson, Rachel, Torella, Annalaura, Trainor, Christina, Udd, Bjarne, Van de Vondel, Liedewei, van de Warrenburg, Bart, van Reeuwijk, Jeroen, Vandrovcova, Jana, Vitobello, Antonio, Vos, Janet, Vyhnálková, Emílie, Wijngaard, Robin, Wilke, Carlo, William, Doreen, Xu, Jishu, Yaldiz, Burcu, Zalatnai, Luca, Zurek, Birte, Brookes, Anthony J, Evangelista, Teresinha, Gilissen, Christian, Graessner, Holm, Hoogerbrugge, Nicoline, Ossowski, Stephan, Riess, Olaf, Schüle, Rebecca, Synofzik, Matthis

    Veröffentlicht in Nature medicine

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    Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia von Morsy, Heba, Benkirane, Mehdi, Cali, Elisa, Zhelcheska, Kristina, Cipriani, Valentina, Galanaki, Evangelia, Maroofian, Reza, Efthymiou, Stephanie, Murphy, David, Banka, Siddharth, Clayton-Smith, Jill, Redman, Melody, Bassetti, Jennifer A., Nizon, Mathilde, Jamra, Rami Abu, Heruth, Marion, Krey, Ilona, Gburek-Augustat, Janina, Wieczorek, Dagmar, Mcentagart, Meriel, Goldenberg, Alice, Guyant-Marechal, Lucie, Garcia-Moreno, Hector, Giunti, Paola, Chabrol, Brigitte, Bacrot, Severine, Buissonnière, Roger, Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Melegh, Béla, Szabó, András, Sümegi, Katalin, Cossée, Mireille, Ziff, Monica, Butterfield, Russell, Hunt, David, Hanna, Michael, Koenig, Michel, Vandrovcova, Jana, Houlden, Henry, Arumugam, P., Baple, E.L., Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Brittain, H., Caulfield, M.J., Chan, G.C., Daugherty, L.C., Devereau, A., Foulger, R.E., Fowler, T., Furió-Tarí, P., Halai, D., Hamblin, A., Henderson, S., Holman, J.E., Hubbard, T.J.P., Ibáñez, K., Jackson, R., Jones, L.J., Kasperaviciute, D., Lahnstein, L., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., Mason, J., McDonagh, E.M., Moutsianas, L., Mueller, M., Murugaesu, N., Odhams, C.A., Patch, C., Perez-Gil, D., Pullinger, J., Rahim, T., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Sosinsky, A., Stevens, H.E., Stuckey, A., Sultana, R., Thompson, S.R., Tucci, A., Walsh, E., Watters, S.A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M.

    Veröffentlicht in Genetics in medicine

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