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    Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant von de Boer, Elke, Yaldiz, Burcu, Denommé-Pichon, Anne-Sophie, Matalonga, Leslie, Laurie, Steve, Steyaert, Wouter, de Reuver, Rick, Gilissen, Christian, Kwint, Michael, Pfundt, Rolph, Verloes, Alain, Willemsen, Michèl A.A.P., Vries, Bert B.A. de, Vitobello, A., Kleefstra, Tjitske, Vissers, Lisenka E.L.M., Boer, Elke de, Cohen, Enzo, Cuesta, Isabel, Danis, Daniel, Denommé-Pichon, Anne-Sophie, Gao, Fei, Gilissen, Christian, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Matalonga, Leslie, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, Paske, Iris B.A.W. te, Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, Trimouille, Aurélien, van der Velde, Joeri K., Vandrovcova, Jana, Vitobello, Antonio, Zurek, Birte, Abbot, Kristin M., Banka, Siddharth, Benetti, Elisa, de Boer, Elke, Casari, Giorgio, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Ellwanger, Kornelia, Faivre, Laurence, Graessner, Holm, Haack, Tobias B., Hammarsjö, Anna, Havlovicova, Marketa, Hoischen, Alexander, Hugon, Anne, Jackson, Adam, Kerstjens, Mieke, Kleefstra, Tjitske, Lindstrand, Anna, Martín, Estrella López, Macek, Milan, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Nordgren, Ann, Pettersson, Maria, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca C., Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Santen, Gijs W.E., Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Verloes, Alain, Vissers, Lisenka, Votypka, Pavel, Vyshka, Klea, Zguro, Kristina


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    A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing von Banka, Siddharth, Ciolfi, Andrea, Dallapiccola, Bruno, Gilissen, Christian, López-Martín, Estrella, Ryba, Lukas, Tartaglia, Marco, Thevenon, Julien, Tran Mau-Them, Frédéric, Votypka, Pavel, Faivre, Laurence, Gilissen, Christian, Jackson, Adam, Kleefstra, Tjitske, Santen, Gijs W.E., Verloes, Alain, Votypka, Pavel, Gao, Fei, Johari, Mridul, Morsy, Heba, Robinson, Peter, Zurek, Birte, Kegele, Josua, Scheffer, Hans, van de Warrenburg, Bart, Steehouwer, Marloes, Maddi, Vatsalya, Riaz, Umar, Dizjikan, Farid Yavari, Straub, Volker, Papakonstantinou, Anastasios, Corvo, Alberto, Fernandez-Callejo, Marcos, Gumus, Gulcin, Lagorce, David, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Evangelista, Teresinha, Metay, Corinne, Eymard, Bruno, Thomas, Coline, Spalding, Dylan, Magrinelli, Francesca, Sisodiya, Sanjay M., Zaharieva, Irina, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Piluso, Giulio, Rossi, Rachele, Matos, Ana Rita, Gullo, Irene, Fernandes, Susana, Zonneveld-Huijssoon, Eveline, van Gijn, Marielle, Mignot, Cyril, Lacombe, Didier, Holinski-Feder, Elke, Cilio, Maria-Roberta, Depondt, Chantal, Lederer, Damien, Mary, Sandrine, Pérez-Dueñas, Belén, Masó, Laura Batlle, Hemelsoet, Dimitri, Depienne, Christel, Iacomino, Michele, Scala, Marcello, Bourbouli, Mara, Radio, Francesca Clementina, De la Paz, Manuel Posada, Alonso García de la Rosa, F. Javier, Guerrini, Renzo, Chinnery, Patrick F., Schon, Katherine, Münchau, Alexander, Pauly, Martje, Toutain, Annick, Molin, Arnaud, Jouret, Béatrice, Laudier, Béatrice, Bonniaud, Bertille, Paul, Carle, Schaefer, Élise, Colin, Estelle, Prieur, Fabienne, Alessandri, Jean-Luc, Martinovic, Jelena, Lambert, Laëtitia, Bournez, Marie, Cordier-Alex, Marie-Pierre, Fradin, Mélanie, Hanna, Nadine, Chassaing, Nicolas, Naudion, Sophie, Cusin, Véronica

    Veröffentlicht in Genetics in medicine

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    Maternal body mass index, gestational weight gain, and the risk of overweight and obesity across childhood: An individual participant data meta-analysis von Voerman, Ellis, Santos, Susana, Patro Golab, Bernadeta, Amiano, Pilar, Ballester, Ferran, Barros, Henrique, Bergström, Anna, Charles, Marie-Aline, Chatzi, Leda, Chevrier, Cécile, Chrousos, George P, Corpeleijn, Eva, Costet, Nathalie, Crozier, Sarah, Devereux, Graham, Eggesbø, Merete, Ekström, Sandra, Fantini, Maria Pia, Farchi, Sara, Forastiere, Francesco, Georgiu, Vagelis, Godfrey, Keith M, Gori, Davide, Grote, Veit, Hanke, Wojciech, Hertz-Picciotto, Irva, Heude, Barbara, Hryhorczuk, Daniel, Huang, Rae-Chi, Inskip, Hazel, Iszatt, Nina, Karvonen, Anne M, Kenny, Louise C, Koletzko, Berthold, Küpers, Leanne K, Lagström, Hanna, Lehmann, Irina, Magnus, Per, Majewska, Renata, Mäkelä, Johanna, Manios, Yannis, McAuliffe, Fionnuala M, McDonald, Sheila W, Mehegan, John, Mommers, Monique, Morgen, Camilla S, Mori, Trevor A, Moschonis, George, Murray, Deirdre, Chaoimh, Carol Ní, Nohr, Ellen A, Nybo Andersen, Anne-Marie, Oken, Emily, Oostvogels, Adriëtte J J M, Pac, Agnieszka, Papadopoulou, Eleni, Pekkanen, Juha, Pizzi, Costanza, Polanska, Kinga, Porta, Daniela, Richiardi, Lorenzo, Rifas-Shiman, Sheryl L, Ronfani, Luca, Santos, Ana C, Standl, Marie, Stoltenberg, Camilla, Thiering, Elisabeth, Thijs, Carel, Torrent, Maties, Tough, Suzanne C, Trnovec, Tomas, Turner, Steve, van Rossem, Lenie, von Berg, Andrea, Vrijheid, Martine, Vrijkotte, Tanja G M, West, Jane, Wijga, Alet, Wright, John, Zvinchuk, Oleksandr, Sørensen, Thorkild I A, Lawlor, Debbie A, Gaillard, Romy, Jaddoe, Vincent W V

    Veröffentlicht in PLoS medicine

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