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, Waffenschmidt, Lea, Fazaal, Julia, Breuer, Katinka, Hilger, Alina C., Dworschak, Gabriel C., Mingardo, Enrico, Rösch, Wolfgang, Hofmann, Aybike, Neissner, Claudia, Ebert, Anne-Karolin, Stein, Raimund, Younsi, Nina, Hirsch-Koch, Karin, Schmiedeke, Eberhard, Zwink, Nadine, Jenetzky, Ekkehart, Thiele, Holger, Ludwig, Kerstin U.
and Reutter, Heiko
(2023)
Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation.
Biomolecules 13 (7), p. 1117.
Fulltext not available.
, Dixon, Michael, Rada‐Iglesias, Alvaro, Bartusel, Michaela, Rojas‐Martinez, Augusto, Aldhorae, Khalid, Braumann, Bert, Kruse, Teresa, Kirschneck, Christian, Spanier, Gerrit, Reutter, Heiko, Nowak, Stefanie, Gölz, Lina, Knapp, Michael, Buness, Andreas, Krawitz, Peter
, Nöthen, Markus M., Nothnagel, Michael, Becker, Tim, Ludwig, Kerstin U. and Mangold, Elisabeth
(2023)
Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores.
Molecular Genetics & Genomic Medicine 11 (3).
Fulltext not available.
, Nordenskjöld, Agneta, Newman, William
, Woolf, Adrian S.
, Eckstein, Markus
, Hilger, Alina C., Dworschak, Gabriel C.
, Rösch, Wolfgang, Ebert, Anne-Karolin, Stein, Raimund, Brusco, Alfredo, Di Grazia, Massimo, Tamer, Ali, Torres, Federico M., Hernandez, Jose L., Erben, Philipp, Maj, Carlo, Olmos, Jose M.
, Riancho, Jose A., Valero, Carmen, Hostettler, Isabel C., Houlden, Henry, Werring, David J.
, Schumacher, Johannes, Gehlen, Jan, Giel, Ann-Sophie, Buerfent, Benedikt C., Arkani, Samara, Åkesson, Elisabeth
, Rotstein, Emilia, Ludwig, Michael, Holmdahl, Gundela, Giorgio, Elisa, Berettini, Alfredo, Keene, David, Cervellione, Raimondo M., Younsi, Nina, Ortlieb, Melissa, Oswald, Josef, Haid, Bernhard, Promm, Martin, Neissner, Claudia, Hirsch, Karin, Stehr, Maximilian, Schäfer, Frank-Mattias, Schmiedeke, Eberhard, Boemers, Thomas M., van Rooij, Iris A. L. M., Feitz, Wouter F. J., Marcelis, Carlo L. M., Lacher, Martin, Nelson, Jana, Ure, Benno, Fortmann, Caroline, Gale, Daniel P., Chan, Melanie M. Y., Ludwig, Kerstin U., Nöthen, Markus M., Heilmann, Stefanie, Zwink, Nadine, Jenetzky, Ekkehart, Odermatt, Benjamin, Knapp, Michael and Reutter, Heiko
(2022)
A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy.
Communications Biology 5 (1).
Fulltext not available.
, Rühlemann, Malte C., Arora, Jatin, Özer, Onur, Lenning, Ole Bernt, Myhre, Ronny, Vadla, May Sissel, Wacker, Eike M., Wienbrandt, Lars
, Blandino Ortiz, Aaron, de Salazar, Adolfo, Garrido Chercoles, Adolfo, Palom, Adriana, Ruiz, Agustín, Garcia-Fernandez, Alba-Estela
, Blanco-Grau, Albert, Mantovani, Alberto, Zanella, Alberto, Holten, Aleksander Rygh, Mayer, Alena, Bandera, Alessandra, Cherubini, Alessandro, Protti, Alessandro, Aghemo, Alessio, Gerussi, Alessio, Ramirez, Alfredo
, Braun, Alice
, Nebel, Almut, Barreira, Ana, Lleo, Ana, Teles, Ana, Kildal, Anders Benjamin
, Biondi, Andrea, Caballero-Garralda, Andrea, Ganna, Andrea
, Gori, Andrea, Glück, Andreas, Lind, Andreas
, Tanck, Anja, Hinney, Anke, Carreras Nolla, Anna, Fracanzani, Anna Ludovica, Peschuck, Anna, Cavallero, Annalisa, Dyrhol-Riise, Anne Ma, Ruello, Antonella, Julià, Antonio, Muscatello, Antonio, Pesenti, Antonio, Voza, Antonio, Rando-Segura, Ariadna, Solier, Aurora, Schmidt, Axel, Cortes, Beatriz, Mateos, Beatriz, Nafria-Jimenez, Beatriz, Schaefer, Benedikt, Jensen, Björn
, Bellinghausen, Carla, Maj, Carlo, Ferrando, Carlos, de la Horra, Carmen, Quereda, Carmen, Skurk, Carsten, Thibeault, Charlotte
, Scollo, Chiara, Herr, Christian, Spinner, Christoph D.
, Gassner, Christoph, Lange, Christoph, Hu, Cinzia, Paccapelo, Cinzia, Lehmann, Clara, Angelini, Claudio, Cappadona, Claudio, Azuure, Clinton, Bianco, Cristiana, Cea, Cristina, Sancho, Cristina, Hoff, Dag Arne Lihaug, Galimberti, Daniela
, Prati, Daniele, Haschka, David, Jiménez, David, Pestaña, David, Toapanta, David, Muñiz-Diaz, Eduardo, Azzolini, Elena, Sandoval, Elena, Binatti, Eleonora
, Scarpini, Elio, Helbig, Elisa T., Casalone, Elisabetta
, Urrechaga, Eloisa, Paraboschi, Elvezia Maria
, Pontali, Emanuele, Reverter, Enric, Calderón, Enrique J., Navas, Enrique, Solligård, Erik, Contro, Ernesto, Arana-Arri, Eunate, Aziz, Fátima, Garcia, Federico, García Sánchez, Félix, Ceriotti, Ferruccio, Martinelli-Boneschi, Filippo, Peyvandi, Flora, Kurth, Florian, Blasi, Francesco, Malvestiti, Francesco
, Medrano, Francisco J., Mesonero, Francisco, Rodriguez-Frias, Francisco, Hanses, Frank, Müller, Fredrik, Hemmrich-Stanisak, Georg, Bellani, Giacomo, Grasselli, Giacomo, Pezzoli, Gianni, Costantino, Giorgio, Albano, Giovanni, Cardamone, Giulia, Bellelli, Giuseppe, Citerio, Giuseppe
, Foti, Giuseppe, Lamorte, Giuseppe, Matullo, Giuseppe, Baselli, Guido
, Kurihara, Hayato, Neb, Holger, My, Ilaria, Kurth, Ingo, Hernández, Isabel, Pink, Isabell, de Rojas, Itziar, Galván-Femenia, Iván, Holter, Jan Cato, Afset, Jan Egil, Heyckendorf, Jan, Kässens, Jan, Damås, Jan Kristian, Rybniker, Jan, Altmüller, Janine, Ampuero, Javier, Martín, Javier, Erdmann, Jeanette, Banales, Jesus M., Badia, Joan Ramon, Dopazo, Joaquin, Schneider, Jochen, Bergan, Jonas
, Barretina, Jordi, Walter, Jörn, Hernández Quero, Jose, Goikoetxea, Josune, Delgado, Juan, Guerrero, Juan M., Fazaal, Julia, Kraft, Julia
, Schröder, Julia, Risnes, Kari
, Banasik, Karina
, Müller, Karl Erik, Gaede, Karoline I., Garcia-Etxebarria, Koldo, Tonby, Kristian, Heggelund, Lars, Izquierdo-Sanchez, Laura, Bettini, Laura Rachele, Sumoy, Lauro
, Sander, Leif Erik, Lippert, Lena J., Terranova, Leonardo, Nkambule, Lindokuhle, Knopp, Lisa, Gustad, Lise Tuset
, Garbarino, Lucia, Santoro, Luigi, Téllez, Luis, Roade, Luisa, Ostadreza, Mahnoosh, Intxausti, Maider, Kogevinas, Manolis, Riveiro-Barciela, Mar, Berger, Marc M.
, Schaefer, Marco, Niemi, Mari E. K., Gutiérrez-Stampa, María A., Carrabba, Maria, Figuera Basso, Maria E., Valsecchi, Maria Grazia, Hernandez-Tejero, María, Vehreschild, Maria J. G. T., Manunta, Maria
, Acosta-Herrera, Marialbert
, D'Angiò, Mariella, Baldini, Marina, Cazzaniga, Marina, Grimsrud, Marit M., Cornberg, Markus, Nöthen, Markus M., Marquié, Marta, Castoldi, Massimo, Cordioli, Mattia
, Cecconi, Maurizio, D'Amato, Mauro, Augustin, Max, Tomasi, Melissa, Boada, Mercè, Dreher, Michael, Seilmaier, Michael J., Joannidis, Michael, Wittig, Michael, Mazzocco, Michela, Ciccarelli, Michele, Rodríguez-Gandía, Miguel, Bocciolone, Monica, Miozzo, Monica, Imaz Ayo, Natale, Blay, Natalia
, Chueca, Natalia, Montano, Nicola, Braun, Nicole
, Ludwig, Nicole
, Marx, Nikolaus, Martínez, Nilda, Cornely, Oliver A.
, Witzke, Oliver, Palmieri, Orazio, Faverio, Paola, Preatoni, Paoletta, Bonfanti, Paolo, Omodei, Paolo, Tentorio, Paolo, Castro, Pedro, Rodrigues, Pedro M., España, Pedro Pablo, Hoffmann, Per, Rosenstiel, Philip, Schommers, Philipp, Suwalski, Phillip, de Pablo, Raúl, Ferrer, Ricard, Bals, Robert
, Gualtierotti, Roberta, Gallego-Durán, Rocío, Nieto, Rosa, Carpani, Rossana, Morilla, Rubén, Badalamenti, Salvatore, Haider, Sammra, Ciesek, Sandra, May, Sandra, Bombace, Sara, Marsal, Sara, Pigazzini, Sara, Klein, Sebastian, Pelusi, Serena, Wilfling, Sibylle, Bosari, Silvano, Volland, Sonja
, Brunak, Søren, Raychaudhuri, Soumya, Schreiber, Stefan, Heilmann-Heimbach, Stefanie, Aliberti, Stefano, Ripke, Stephan, Dudman, Susanne
, Wesse, Tanja, Zheng, Tenghao, Bahmer, Thomas, Eggermann, Thomas, Illig, Thomas, Brenner, Thorsten, Pumarola, Tomas, Feldt, Torsten, Folseraas, Trine, Gonzalez Cejudo, Trinidad, Landmesser, Ulf, Protzer, Ulrike, Hehr, Ute, Rimoldi, Valeria, Monzani, Valter, Skogen, Vegard, Keitel, Verena, Kopfnagel, Verena, Friaza, Vicente
, Andrade, Victor, Moreno, Victor, Albrecht, Wolfgang, Peter, Wolfgang, Poller, Wolfgang, Farre, Xavier, Yi, Xiaoli, Wang, Xiaomin, Khodamoradi, Yascha
, Karadeniz, Zehra, Latiano, Anna, Goerg, Siegfried, Bacher, Petra, Koehler, Philipp, Tran, Florian, Zoller, Heinz, Schulte, Eva C.
, Heidecker, Bettina, Ludwig, Kerstin U.
, Fernández, Javier, Romero-Gómez, Manuel, Albillos, Agustín, Invernizzi, Pietro, Buti, Maria, Duga, Stefano, Bujanda, Luis, Hov, Johannes R., Lenz, Tobias L., Asselta, Rosanna, de Cid, Rafael, Valenti, Luca
, Karlsen, Tom H., Cáceres, Mario and Franke, Andre
(2022)
Detailed stratified GWAS analysis for severe COVID-19 in four European populations.
Human Molecular Genetics 31 (23), pp. 3945-3966.
Fulltext not available.
, Wieland, Thomas, Berulava, Tea, Kaffe, Maria, Falkenstein, Daniela, Beetz, Christian
, Graf, Elisabeth, Schwarzmayr, Thomas, Douzgou, Sofia, Clayton-Smith, Jill, Daly, Sarah B., Williams, Simon G.
, Bhaskar, Sanjeev S., Urquhart, Jill E.
, Anderson, Beverley, O’Sullivan, James, Boute, Odile, Gundlach, Jasmin, Czeschik, Johanna Christina, van Essen, Anthonie J., Hazan, Filiz, Park, Sarah, Hing, Anne, Kuechler, Alma, Lohmann, Dietmar R.
, Ludwig, Kerstin U., Mangold, Elisabeth, Steenpaß, Laura, Zeschnigk, Michael, Lemke, Johannes R., Lourenco, Charles Marques, Hehr, Ute, Prott, Eva-Christina, Waldenberger, Melanie, Böhmer, Anne C., Horsthemke, Bernhard, O’Keefe, Raymond T., Meitinger, Thomas
, Burn, John, Lüdecke, Hermann-Josef and Strom, Tim M.
(2014)
Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome.
The American Journal of Human Genetics 95 (6), pp. 698-707.
Fulltext not available.
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