Universität zu Köln

Journal Article

Al Chawa, Taofik, Ludwig, Kerstin U., Fier, Heide, Poetzsch, Bernd, Reich, Rudolf H., Schmidt, Guel, Braumann, Bert, Daratsianos, Nikolaos ORCID: 0000-0003-2098-0379, Boehmer, Anne C., Schuencke, Hannah, Alblas, Margrieta, Fricker, Nadine, Hoffmann, Per, Knapp, Michael, Lange, Christoph, Noethen, Markus M. and Mangold, Elisabeth (2014). Nonsyndromic Cleft Lip with or without Cleft Palate: Increased Burden of Rare Variants within Gremlin-1, a Component of the Bone Morphogenetic Protein 4 Pathway. Birth Defects Res. Part A-Clin. Mol. Teratol., 100 (6). S. 493 - 499. HOBOKEN: WILEY-BLACKWELL. ISSN 1542-0760

Butler-Laporte, Guillaume, Povysil, Gundula ORCID: 0000-0003-4625-5909, Kosmicki, Jack A., Cirulli, Elizabeth T., Drivas, Theodore ORCID: 0000-0002-8717-0111, Furini, Simone ORCID: 0000-0002-1099-8279, Saad, Chadi, Schmidt, Axel, Olszewski, Pawel, Korotko, Urszula ORCID: 0000-0002-1779-8368, Quinodoz, Mathieu, Celik, Elifnaz, Kundu, Kousik, Walter, Klaudia, Jung, Junghyun, Stockwell, Amy D., Sloofman, Laura G., Jordan, Daniel M., Thompson, Ryan C., Del Valle, Diane, Simons, Nicole, Cheng, Esther, Sebra, Robert, Schadt, Eric E., Kim-Schulze, Seunghee, Gnjatic, Sacha, Merad, Miriam, Buxbaum, Joseph D., Beckmann, Noam D., Charney, Alexander W., Przychodzen, Bartlomiej, Chang, Timothy, Pottinger, Tess D., Shang, Ning, Brand, Fabian, Fava, Francesca, Mari, Francesca ORCID: 0000-0003-1992-1654, Chwialkowska, Karolina, Niemira, Magdalena ORCID: 0000-0002-0701-4961, Pula, Szymon, Baillie, J. Kenneth, Stuckey, Alex, Salas, Antonio ORCID: 0000-0002-2336-702X, Bello, Xabier, Pardo-Seco, Jacobo, Gomez-Carballa, Alberto, Rivero-Calle, Irene, Martinon-Torres, Federico ORCID: 0000-0002-9023-581X, Ganna, Andrea ORCID: 0000-0002-8147-240X, Karczewski, Konrad J., Veerapen, Kumar, Bourgey, Mathieu ORCID: 0000-0002-8432-834X, Bourque, Guillaume ORCID: 0000-0002-3933-9656, Eveleigh, Robert Jm, Forgetta, Vincenzo, Morrison, David, Langlais, David ORCID: 0000-0003-4429-0110, Lathrop, Mark, Mooser, Vincent, Nakanishi, Tomoko, Frithiof, Robert, Hultstrom, Michael, Lipcsey, Miklos, Marincevic-Zuniga, Yanara, Nordlund, Jessica, Barrett, Kelly M. Schiabor, Lee, William, Bolze, Alexandre, White, Simon, Riffle, Stephen, Tanudjaja, Francisco, Sandoval, Efren, Neveux, Iva, Dabe, Shaun, Casadei, Nicolas ORCID: 0000-0003-2209-0580, Motameny, Susanne, Alaamery, Manal, Massadeh, Salam, Aljawini, Nora, Almutairi, Mansour S., Arabi, Yaseen M., Alqahtani, Saleh A., Al Harthi, Fawz S., Almutairi, Amal, Alqubaishi, Fatima, Alotaibi, Sarah, Binowayn, Albandari, Alsolm, Ebtehal A., El Bardisy, Hadeel, Fawzy, Mohammad, Cai, Fang, Soranzo, Nicole, Butterworth, Adam, Geschwind, Daniel H., Arteaga, Stephanie, Stephens, Alexis, Butte, Manish J., Boutros, Paul C., Yamaguchi, Takafumi N., Tao, Shu, Eng, Stefan ORCID: 0000-0002-5245-6507, Sanders, Timothy, Tung, Paul J., Broudy, Michael E., Pan, Yu, Gonzalez, Alfredo, Chavan, Nikhil, Johnson, Ruth, Pasaniuc, Bogdan, Yaspan, Brian, Smieszek, Sandra, Rivolta, Carlo, Bibert, Stephanie, Bochud, Pierre-Yves, Dabrowski, Maciej ORCID: 0000-0003-4150-3985, Zawadzki, Pawel, Sypniewski, Mateusz ORCID: 0000-0002-0108-0255, Kaja, Elzbieta ORCID: 0000-0003-1277-6140, Chariyavilaskul, Pajaree, Nilaratanakul, Voraphoj, Hirankarn, Nattiya, Shotelersuk, Vorasuk, Pongpanich, Monnat, Phokaew, Chureerat ORCID: 0000-0002-4246-2604, Chetruengchai, Wanna, Tokunaga, Katsushi, Sugiyama, Masaya, Kawai, Yosuke, Hasegawa, Takanori, Naito, Tatsuhiko, Namkoong, Ho, Edahiro, Ryuya, Kimura, Akinori, Ogawa, Seishi, Kanai, Takanori, Fukunaga, Koichi, Okada, Yukinori, Imoto, Seiya, Miyano, Satoru, Mangul, Serghei, Abedalthagafi, Malak S., Zeberg, Hugo ORCID: 0000-0001-7118-1249, Grzymski, Joseph J., Washington, Nicole L., Ossowski, Stephan ORCID: 0000-0002-7416-9568, Ludwig, Kerstin U., Schulte, Eva C., Riess, Olaf, Moniuszko, Marcin, Kwasniewski, Miroslaw, Mbarek, Hamdi, Ismail, Said I., Verma, Anurag, Goldstein, David B., Kiryluk, Krzysztof, Renieri, Alessandra, Ferreira, Manuel A. R. and Richards, J. Brent (2022). Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative. PLoS Genet., 18 (11). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1553-7404

Gehlen, Jan, Giel, Ann-Sophie ORCID: 0000-0003-2973-2099, Koellges, Ricarda, Haas, Stephan L. ORCID: 0000-0003-4329-8751, Zhang, Rong, Trcka, Jiri, Sungur, Ayse O., Renziehausen, Florian, Bornholdt, Dorothea, Jung, Daphne, Hoyer, Paul D., Nordenskjold, Agneta, Tibboel, Dick, Vlot, John, Spaander, Manon C. W., Smigiel, Robert, Patkowski, Dariusz ORCID: 0000-0002-4583-5517, Roeleveld, Nel ORCID: 0000-0002-3390-4466, van Rooij, Iris Alm, de Blaauw, Ivo, Hoelscher, Alice, Pauly, Marcus, Leutner, Andreas, Fuchs, Joerg, Niethammer, Joel, Melissari, Maria-Theodora, Jenetzky, Ekkehart, Zwink, Nadine, Thiele, Holger, Hilger, Alina Christine, Hess, Timo ORCID: 0000-0003-2778-4274, Trautmann, Jessica, Marks, Matthias, Baumgarten, Martin, Blaess, Gaby, Landen, Mikael, Fundin, Bengt, Bulik, Cynthia M., Pennimpede, Tracie, Ludwig, Michael, Ludwig, Kerstin U., Mangold, Elisabeth, Heilmann-Heimbach, Stefanie, Moebus, Susanne ORCID: 0000-0002-0072-5410, Herrmann, Bernhard G., Alsabeah, Kristina, Burgos, Carmen M., Lilja, Helene E., Azodi, Sahar, Stenstrom, Pernilla, Arnbjornsson, Einar, Frybova, Barbora, Lebensztejn, Dariusz M., Debek, Wojciech ORCID: 0000-0001-6023-8510, Kolodziejczyk, Elwira, Kozera, Katarzyna, Kierkus, Jaroslaw, Kalicinski, Piotr ORCID: 0000-0003-0555-2229, Stefanowicz, Marek, Socha-Banasiak, Anna, Kolejwa, Michal, Piaseczna-Piotrowska, Anna, Czkwianianc, Elzbieta, Noethen, Markus M., Grote, Phillip, Rygl, Michal, Reinshagen, Konrad, Spychalski, Nicole, Ludwikowski, Barbara, Hubertus, Jochen ORCID: 0000-0003-3206-6170, Heydweiller, Andreas, Ure, Benno, Muensterer, Oliver J., Aubert, Ophelia, Gosemann, Jan-Hendrik, Lacher, Martin, Degenhardt, Petra ORCID: 0000-0001-7506-9457, Boemers, Thomas M., Mokrowiecka, Anna, Malecka-Panas, Ewa, Woehr, Markus, Knapp, Michael, Seitz, Guido, de Klein, Annelies, Oracz, Grzegorz, Brosens, Erwin ORCID: 0000-0001-8235-4010, Reutter, Heiko and Schumacher, Johannes (2022). First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B. Hum. Genet. Genom. Adv., 3 (2). AMSTERDAM: ELSEVIER. ISSN 2666-2477

Ishorst, Nina, Francheschelli, Paola, Boehmer, Anne C., Khan, Mohammad Faisal J., Heilmann-Heimbach, Stefanie ORCID: 0000-0003-1057-465X, Fricker, Nadine, Little, Julian ORCID: 0000-0001-5026-5531, Steegers-Theunissen, Regine P. M., Peterlin, Borut, Nowak, Stefanie, Martini, Markus, Kruse, Teresa, Dunsche, Anton, Kreusch, Thomas, Goelz, Lina, Aldhorae, Khalid ORCID: 0000-0002-5920-8004, Halboub, Esam ORCID: 0000-0002-1894-470X, Reutter, Heiko, Mossey, Peter, Noethen, Markus M., Rubini, Michele ORCID: 0000-0003-1448-9516, Ludwig, Kerstin U., Knapp, Michael and Mangold, Elisabeth (2018). Nonsyndromic cleft palate: An association study at GWAS candidate loci in a multiethnic sample. Birth Defects Res., 110 (10). S. 871 - 883. HOBOKEN: WILEY. ISSN 2472-1727

Ishorst, Nina, Henschel, Leonie, Thieme, Frederic, Drichel, Dmitriy, Sivalingam, Sugirthan, Mehrem, Sarah L., Fechtner, Ariane C., Fazaal, Julia, Welzenbach, Julia, Heimbach, Andre, Maj, Carlo, Borisov, Oleg, Hausen, Jonas, Raff, Ruth, Hoischen, Alexander ORCID: 0000-0002-8072-4476, Dixon, Michael, Rada-Iglesias, Alvaro, Bartusel, Michaela, Rojas-Martinez, Augusto, Aldhorae, Khalid, Braumann, Bert, Kruse, Teresa, Kirschneck, Christian, Spanier, Gerrit, Reutter, Heiko, Nowak, Stefanie, Goelz, Lina, Knapp, Michael, Buness, Andreas, Krawitz, Peter, Noethen, 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. Mol. Genet. Genom. Med., 11 (3). HOBOKEN: WILEY. ISSN 2324-9269

Klamt, Johanna, Hofmann, Andrea, Boehmer, Anne C., Hoebel, Ann-Kathrin, Goelz, Lina, Becker, Jessica, Zink, Alexander M., Draaken, Markus, Hemprich, Alexander, Scheer, Martin, Schmidt, Guel, Martini, Markus ORCID: 0000-0001-5608-6980, Knapp, Michael, Mangold, Elisabeth, Degenhardt, Franziska and Ludwig, Kerstin U. (2016). Further Evidence for Deletions in 7p14.1 Contributing to Nonsyndromic Cleft Lip with or without Cleft Palate. Birth Defects Res. Part A-Clin. Mol. Teratol., 106 (9). S. 767 - 773. HOBOKEN: WILEY-BLACKWELL. ISSN 1542-0760

Ludwig, Kerstin U., Boehmer, Anne C., Bowes, John, Nikolic, Milos ORCID: 0000-0003-0029-7601, Ishorst, Nina, Wyatt, Niki, Hammond, Nigel L., Goelz, Lina, Thieme, Frederic, Barth, Sandra, Schuenke, Hannah, Klamt, Johanna, Spielmann, Malte ORCID: 0000-0002-0583-4683, Aldhorae, Khalid ORCID: 0000-0002-5920-8004, Rojas-Martinez, Augusto, Noethen, Markus M., Rada-Iglesias, Alvaro, Dixon, Michael J., Knapp, Michael and Mangold, Elisabeth (2017). Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip 6 cleft palate and cleft palate only. Hum. Mol. Genet., 26 (4). S. 829 - 843. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Maaser, Anna, Forstner, Andreas J., Strohmaier, Jana, Hecker, Julian, Ludwig, Kerstin U., Sivalingam, Sugirthan, Streit, Fabian, Degenhardt, Franziska, Witt, Stephanie H., Reinbold, Celine S., Koller, Anna C., Raff, Ruth, Heilmann-Heimbach, Stefanie, Fischer, Sascha B., Herms, Stefan ORCID: 0000-0002-2786-8200, Hoffmann, Per, Thiele, Holger, Nuernberg, Peter, Fier, Heide Loehlein, Orozco-Diaz, Guillermo, Carmenate-Naranjo, Deinys, Proenza-Barzaga, Niurka, Auburger, Georg W. J., Andlauer, Till F. M., Cichon, Sven, Marcheco-Teruel, Beatriz, Mors, Ole, Rietschel, Marcella and Noethen, Markus M. (2018). Exome sequencing in large, multiplex bipolar disorder families from Cuba. PLoS One, 13 (10). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Maaser, Anna ORCID: 0000-0002-9440-0712, Strohmaier, Jana ORCID: 0000-0002-4364-1487, Ludwig, Kerstin U., Degenhardt, Franziska ORCID: 0000-0002-1685-8904, Streit, Fabian ORCID: 0000-0003-1080-4339, Thiele, Holger ORCID: 0000-0002-0169-998X, Nürnberg, Peter ORCID: 0000-0002-7228-428X, Herms, Stefan ORCID: 0000-0002-2786-8200, Hoffmann, Per ORCID: 0000-0002-6573-983X, Cichon, Sven ORCID: 0000-0002-9475-086X, Rietschel, Marcella ORCID: 0000-0002-5236-6149, Nöthen, Markus M. ORCID: 0000-0002-8770-2464 and Forstner, Andreas J. ORCID: 0000-0002-1876-6368 (2019). Exome sequencing of multiply affected bipolar disorder families and follow-up resequencing implicate rare variants in neuronal genes contributing to disease etiology. European Neuropsychopharmacology, 29 (3). S. 836- 837. Elsevier. ISSN 0924-977X

Mangold, Elisabeth, Boehmer, Anne C., Ishorst, Nina, Hoebel, Ann-Kathrin, Gueltepe, Pinar, Schuenke, Hannah, Klamt, Johanna, Hofmann, Andrea, Goelz, Lina, Raff, Ruth, Tessmann, Peter, Nowak, Stefanie, Reutter, Heiko, Hemprich, Alexander, Kreusch, Thomas, Kramer, Franz-Josef, Braumann, Bert, Reich, Rudolf, Schmidt, Guel, Jaeger, Andreas, Reiter, Rudolf, Brosch, Sibylle, Stavusis, Janis, Ishida, Miho, Seselgyte, Rimante, Moore, Gudrun E., Noethen, Markus M., Borck, Guntram, Aldhorae, Khalid A., Lace, Baiba ORCID: 0000-0001-5371-6756, Stanier, Philip ORCID: 0000-0001-9340-8117, Knapp, Michael and Ludwig, Kerstin U. (2016). Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate. Am. J. Hum. Genet., 98 (4). S. 755 - 763. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Mingardo, Enrico, Beaman, Glenda, Grote, Philip, Nordenskjold, Agneta, Newman, William ORCID: 0000-0002-6382-4678, Woolf, Adrian S., Eckstein, Markus ORCID: 0000-0001-5418-3349, Hilger, Alina C., Dworschak, Gabriel C., Roesch, 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. ORCID: 0000-0002-7765-0891, 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, Akesson, 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, Schafer, 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., Noethen, 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. Commun. Biol., 5 (1). BERLIN: NATURE PORTFOLIO. ISSN 2399-3642

Nasser, Entessar, Mangold, Elisabeth, Tradowsky, Daniela C., Fier, Heide, Becker, Jessica, Boehmer, Anne C., Herberz, Ruth, Fricker, Nadine, Barth, Sandra, Wahle, Philipp ORCID: 0000-0002-4728-806X, Nowak, Stefanie, Reutter, Heiko, Reich, Rudolf H., Lauster, Carola, Braumann, Bert, Kreusch, Thomas, Hemprich, Alexander, Poetzsch, Bernd, Hoffmann, Per ORCID: 0000-0002-6573-983X, Kramer, Franz-Josef, Knapp, Michael, Lange, Christoph, Noethen, Markus M. and Ludwig, Kerstin U. (2012). Resequencing of VAX1 in patients with nonsyndromic cleft lip with or without cleft palate. Birth Defects Res. Part A-Clin. Mol. Teratol., 94 (11). S. 925 - 934. HOBOKEN: WILEY. ISSN 1542-0760

Schroeder, Julia, Schueller, Vitalia, May, Andrea, Gerges, Christian, Anders, Mario, Becker, Jessica, Hess, Timo, Kreuser, Nicole, Thieme, Rene ORCID: 0000-0002-0537-3979, Ludwig, Kerstin U., Noder, Tania, Venerito, Marino, Veits, Lothar, Schmidt, Thomas ORCID: 0000-0002-7166-3675, Fuchs, Claudia, Izbicki, Jakob R., Hoelscher, Arnulf H., Dakkak, Dani, Jansen-Winkeln, Boris, Moulla, Yusef, Lyros, Orestis, Niebisch, Stefan, Mehdorn, Matthias, Lang, Hauke, Lorenz, Dietmar, Schumacher, Brigitte, Mayershofer, Rupert, Vashist, Yogesh, Ott, Katja, Vieth, Michael, Weismueller, Josef, Mangold, Elisabeth, Noethen, Markus M., Moebus, Susanne, Knapp, Michael, Neuhaus, Horst, Roesch, Thomas, Ell, Christian, Gockel, Ines, Schumacher, Johannes and Boehmer, Anne C. (2019). Identification of loci of functional relevance to Barrett's esophagus and esophageal adenocarcinoma: Cross-referencing of expression quantitative trait loci data from disease-relevant tissues with genetic association data. PLoS One, 14 (12). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Thieme, Frederic, Henschel, Leonie, Hammond, Nigel L., Ishorst, Nina, Hausen, Jonas, Adamson, Antony D., Biedermann, Angelika, Bowes, John, Zieger, Hanna K., Maj, Carlo, Kruse, Teresa, Buness, Andreas, Hoischen, Alexander ORCID: 0000-0002-8072-4476, Gilissen, Christian ORCID: 0000-0003-1693-9699, Kreusch, Thomas, Jaeger, Andreas, Goelz, Lina, Braumann, Bert, Aldhorae, Khalid ORCID: 0000-0002-5920-8004, Rojas-Martinez, Augusto, Krawitz, Peter M., Mangold, Elisabeth, Dixon, Michael J. and Ludwig, Kerstin U. (2021). Extending the allelic spectrum at noncoding risk loci of orofacial clefting. Hum. Mutat., 42 (8). S. 1066 - 1079. HOBOKEN: WILEY. ISSN 1098-1004