Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity
Yu, Yanqin, Zuo, Xianbo, He, Miao, Gao, Jinping, Fu, Yuchuan, Qin, Chuanqi, Meng, Liuyan, Wang, Wenjun, Song, Yaling, Cheng, Yong, Zhou, Fusheng, Chen, Gang, Zheng, Xiaodong, Wang, Xinhuan, Liang, Bo, Zhu, Zhengwei, Fu, Xiazhou, Sheng, Yujun, Hao, Jiebing, Liu, Zhongyin, Yan, Hansong, Mangold, Elisabeth, Ruczinski, Ingo, Liu, Jianjun, Marazita, Mary L., Ludwig, Kerstin U., Beaty, Terri H., Zhang, Xuejun, Sun, Liangdan, Bian, Zhuan
Published in Nature communications (24.02.2017)
Published in Nature communications (24.02.2017)
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Journal Article
Breakthroughs in the genetics of orofacial clefting
Mangold, Elisabeth, Ludwig, Kerstin U, Nöthen, Markus M
Published in Trends in molecular medicine (01.12.2011)
Published in Trends in molecular medicine (01.12.2011)
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Journal Article
Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only
Ludwig, Kerstin U, Böhmer, Anne C, Bowes, John, Nikolic, Miloš, Ishorst, Nina, Wyatt, Niki, Hammond, Nigel L, Gölz, Lina, Thieme, Frederic, Barth, Sandra, Schuenke, Hannah, Klamt, Johanna, Spielmann, Malte, Aldhorae, Khalid, Rojas-Martinez, Augusto, Nöthen, Markus M, Rada-Iglesias, Alvaro, Dixon, Michael J, Knapp, Michael, Mangold, Elisabeth
Published in Human molecular genetics (15.02.2017)
Published in Human molecular genetics (15.02.2017)
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Journal Article
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate
Mangold, Elisabeth, Böhmer, Anne C., Ishorst, Nina, Hoebel, Ann-Kathrin, Gültepe, Pinar, Schuenke, Hannah, Klamt, Johanna, Hofmann, Andrea, Gölz, Lina, Raff, Ruth, Tessmann, Peter, Nowak, Stefanie, Reutter, Heiko, Hemprich, Alexander, Kreusch, Thomas, Kramer, Franz-Josef, Braumann, Bert, Reich, Rudolf, Schmidt, Gül, Jäger, Andreas, Reiter, Rudolf, Brosch, Sibylle, Stavusis, Janis, Ishida, Miho, Seselgyte, Rimante, Moore, Gudrun E., Nöthen, Markus M., Borck, Guntram, Aldhorae, Khalid A., Lace, Baiba, Stanier, Philip, Knapp, Michael, Ludwig, Kerstin U.
Published in American journal of human genetics (07.04.2016)
Published in American journal of human genetics (07.04.2016)
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Journal Article
Investigating the shared genetics of non-syndromic cleft lip/palate and facial morphology
Howe, Laurence J, Lee, Myoung Keun, Sharp, Gemma C, Davey Smith, George, St Pourcain, Beate, Shaffer, John R, Ludwig, Kerstin U, Mangold, Elisabeth, Marazita, Mary L, Feingold, Eleanor, Zhurov, Alexei, Stergiakouli, Evie, Sandy, Jonathan, Richmond, Stephen, Weinberg, Seth M, Hemani, Gibran, Lewis, Sarah J
Published in PLoS genetics (01.08.2018)
Published in PLoS genetics (01.08.2018)
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Journal Article
Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the Palate, and Functional Analyses Implicate GREM1 As a Plausible Causative Gene
Ludwig, Kerstin U, Ahmed, Syeda Tasnim, Böhmer, Anne C, Sangani, Nasim Bahram, Varghese, Sheryil, Klamt, Johanna, Schuenke, Hannah, Gültepe, Pinar, Hofmann, Andrea, Rubini, Michele, Aldhorae, Khalid Ahmed, Steegers-Theunissen, Regine P, Rojas-Martinez, Augusto, Reiter, Rudolf, Borck, Guntram, Knapp, Michael, Nakatomi, Mitsushiro, Graf, Daniel, Mangold, Elisabeth, Peters, Heiko
Published in PLoS genetics (11.03.2016)
Published in PLoS genetics (11.03.2016)
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Journal Article
Allele-specific transcription factor binding in a cellular model of orofacial clefting
Ruff, Katharina L. M., Hollstein, Ronja, Fazaal, Julia, Thieme, Frederic, Gehlen, Jan, Mangold, Elisabeth, Knapp, Michael, Welzenbach, Julia, Ludwig, Kerstin U.
Published in Scientific reports (02.02.2022)
Published in Scientific reports (02.02.2022)
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Journal Article
Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome
Wieczorek, Dagmar, Newman, William G., 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, Strom, Tim M.
Published in American journal of human genetics (04.12.2014)
Published in American journal of human genetics (04.12.2014)
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Journal Article
TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19
Schmidt, Axel, Peters, Sophia, Knaus, Alexej, Sabir, Hemmen, Hamsen, Frauke, Maj, Carlo, Fazaal, Julia, Sivalingam, Sugirthan, Savchenko, Oleksandr, Mantri, Aakash, Holzinger, Dirk, Neudorf, Ulrich, Müller, Andreas, Ludwig, Kerstin U., Krawitz, Peter M., Engels, Hartmut, Nöthen, Markus M., Bagci, Soyhan
Published in Npj genomic medicine (01.07.2021)
Published in Npj genomic medicine (01.07.2021)
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Journal Article
Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy
Draaken, Markus, Knapp, Michael, Pennimpede, Tracie, Schmidt, Johanna M, Ebert, Anne-Karolin, Rösch, Wolfgang, Stein, Raimund, Utsch, Boris, Hirsch, Karin, Boemers, Thomas M, Mangold, Elisabeth, Heilmann, Stefanie, Ludwig, Kerstin U, Jenetzky, Ekkehart, Zwink, Nadine, Moebus, Susanne, Herrmann, Bernhard G, Mattheisen, Manuel, Nöthen, Markus M, Ludwig, Michael, Reutter, Heiko
Published in PLoS genetics (01.03.2015)
Published in PLoS genetics (01.03.2015)
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Journal Article
Analysis of candidate genes for cleft lip ± cleft palate using murine single-cell expression data
Siewert, Anna, Reiz, Benedikt, Krug, Carina, Heggemann, Julia, Mangold, Elisabeth, Dickten, Henning, Ludwig, Kerstin U
Published in Frontiers in cell and developmental biology (24.04.2023)
Published in Frontiers in cell and developmental biology (24.04.2023)
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Journal Article
Exome sequencing in large, multiplex bipolar disorder families from Cuba
Maaser, Anna, Forstner, Andreas J, Strohmaier, Jana, Hecker, Julian, Ludwig, Kerstin U, Sivalingam, Sugirthan, Streit, Fabian, Degenhardt, Franziska, Witt, Stephanie H, Reinbold, Céline S, Koller, Anna C, Raff, Ruth, Heilmann-Heimbach, Stefanie, Fischer, Sascha B, Herms, Stefan, Hoffmann, Per, Thiele, Holger, Nürnberg, Peter, Löhlein Fier, Heide, Orozco-Díaz, Guillermo, Carmenate-Naranjo, Deinys, Proenza-Barzaga, Niurka, Auburger, Georg W J, Andlauer, Till F M, Cichon, Sven, Marcheco-Teruel, Beatriz, Mors, Ole, Rietschel, Marcella, Nöthen, Markus M
Published in PloS one (31.10.2018)
Published in PloS one (31.10.2018)
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Journal Article
Genetic Predisposition and the Variable Course of Infectious Diseases
Schmidt, Axel, Groh, Ana M, Frick, Julia S, Vehreschild, Maria J G T, Ludwig, Kerstin U
Published in Deutsches Ärzteblatt international (25.02.2022)
Published in Deutsches Ärzteblatt international (25.02.2022)
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Journal Article
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
Schröder, Julia, Schüller, Vitalia, May, Andrea, Gerges, Christian, Anders, Mario, Becker, Jessica, Hess, Timo, Kreuser, Nicole, Thieme, René, Ludwig, Kerstin U, Noder, Tania, Venerito, Marino, Veits, Lothar, Schmidt, Thomas, Fuchs, Claudia, Izbicki, Jakob R, Hölscher, 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, Weismüller, Josef, Mangold, Elisabeth, Nöthen, Markus M, Moebus, Susanne, Knapp, Michael, Neuhaus, Horst, Rösch, Thomas, Ell, Christian, Gockel, Ines, Schumacher, Johannes, Böhmer, Anne C
Published in PloS one (31.12.2019)
Published in PloS one (31.12.2019)
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Molecular Genetic Screening in Patients With ACE Inhibitor/Angiotensin Receptor Blocker-Induced Angioedema to Explore the Role of Hereditary Angioedema Genes
Mathey, Carina M., Maj, Carlo, Scheer, Annika B., Fazaal, Julia, Wedi, Bettina, Wieczorek, Dorothea, Amann, Philipp M., Löffler, Harald, Koch, Lukas, Schöffl, Clemens, Dickel, Heinrich, Ganjuur, Nomun, Hornung, Thorsten, Forkel, Susann, Greve, Jens, Wurpts, Gerda, Hallberg, Pär, Bygum, Anette, Von Buchwald, Christian, Karawajczyk, Malgorzata, Steffens, Michael, Stingl, Julia, Hoffmann, Per, Heilmann-Heimbach, Stefanie, Mangold, Elisabeth, Ludwig, Kerstin U., Rasmussen, Eva R., Wadelius, Mia, Sachs, Bernhardt, Nöthen, Markus M., Forstner, Andreas J.
Published in Frontiers in genetics (18.07.2022)
Published in Frontiers in genetics (18.07.2022)
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Journal Article
Pancreatic cancer acquires resistance to MAPK pathway inhibition by clonal expansion and adaptive DNA hypermethylation
Godfrey, Laura K, Forster, Jan, Liffers, Sven-Thorsten, Schröder, Christopher, Köster, Johannes, Henschel, Leonie, Ludwig, Kerstin U, Lähnemann, David, Trajkovic-Arsic, Marija, Behrens, Diana, Scarpa, Aldo, Lawlor, Rita T, Witzke, Kathrin E, Sitek, Barbara, Johnsen, Steven A, Rahmann, Sven, Horsthemke, Bernhard, Zeschnigk, Michael, Siveke, Jens T
Published in Clinical epigenetics (16.01.2024)
Published in Clinical epigenetics (16.01.2024)
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Journal Article
Genetic determination of human facial morphology: links between cleft-lips and normal variation
BOEHRINGER, Stefan, VAN DER LIJN, Fedde, UITTERLINDEN, Andre G, NIESSEN, Wiro J, BRETELER, Monique M. B, VAN DER LUGT, Aad, WÜRTZ, Rolf P, NÖTHEN, Markus M, HORSTHEMKE, Bernhard, WIECZOREK, Dagmar, MANGOLD, Elisabeth, KAYSER, Manfred, FAN LIU, GÜNTHER, Manuel, SINIGEROVA, Stella, NOWAK, Stefanie, LUDWIG, Kerstin U, HERBERZ, Ruth, KLEIN, Stefan, HOFMAN, Albert
Published in European journal of human genetics : EJHG (01.11.2011)
Published in European journal of human genetics : EJHG (01.11.2011)
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Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation
Köllges, Ricarda, Stegmann, Jil, Schneider, Sophia, 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, Reutter, Heiko
Published in Biomolecules (Basel, Switzerland) (13.07.2023)
Published in Biomolecules (Basel, Switzerland) (13.07.2023)
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