Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations

por Fabian, Julia, Dworschak, Gabriel C., Waffenschmidt, Lea, Schierbaum, Luca, Bendixen, Charlotte, Heilmann-Heimbach, Stefanie, Sivalingam, Sugirthan, Buness, Andreas, Schwarzer, Nicole, Boemers, Thomas M., Schmiedeke, Eberhard, Neser, Jörg, Leonhardt, Johannes, Kosch, Ferdinand, Weih, Sandra, Gielen, Helen Maya, Hosie, Stuart, Kabs, Carmen, Palta, Markus, Märzheuser, Stefanie, Bode, Lena Marie, Lacher, Martin, Schäfer, Frank-Mattias, Stehr, Maximilian, Knorr, Christian, Ure, Benno, Kleine, Katharina, Rolle, Udo, Zaniew, Marcin, Phillip, Grote, Zwink, Nadine, Jenetzky, Ekkehart, Reutter, Heiko, Hilger, Alina C.
Publicado 2022

Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia

por Zhang, Rong, Gehlen, Jan, Kawalia, Amit, Melissari, Maria-Theodora, Dakal, Tikam Chand, Menon, Athira M., Höfele, Julia, Riedhammer, Korbinian, Waffenschmidt, Lea, Fabian, Julia, Breuer, Katinka, Kalanithy, Jeshurun, Hilger, Alina Christine, Sharma, Amit, Hölscher, Alice, Boemers, Thomas M., Pauly, Markus, Leutner, Andreas, Fuchs, Jörg, Seitz, Guido, Ludwikowski, Barbara M., Gomez, Barbara, Hubertus, Jochen, Heydweiller, Andreas, Kurz, Ralf, Leonhardt, Johannes, Kosch, Ferdinand, Holland-Cunz, Stefan, Münsterer, Oliver, Ure, Beno, Schmiedeke, Eberhard, Neser, Jörg, Degenhardt, Petra, Märzheuser, Stefanie, Kleine, Katharina, Schäfer, Mattias, Spychalski, Nicole, Deffaa, Oliver J., Gosemann, Jan-Hendrik, Lacher, Martin, Heilmann-Heimbach, Stefanie, Zwink, Nadine, Jenetzky, Ekkehart, Ludwig, Michael, Grote, Phillip, Schumacher, Johannes, Thiele, Holger, Reutter, Heiko
Publicado 2020