Universität zu Köln

Journal Article

Bey, Katharina, Wolfsgruber, Steffen, Karaca, Ilker ORCID: 0000-0002-2139-0015, Wagner, Holger, Lardenoije, Roy, Becker, Julian, Milz, Esther, Kornhuber, Johannes ORCID: 0000-0002-8096-3987, Peters, Oliver, Froelich, Lutz, Huell, Michael, Ruether, Eckart, Wiltfang, Jens ORCID: 0000-0003-1492-5330, Riedel-Heller, Steffi, Scherer, Martin, Jessen, Frank, Maier, Wolfgang, van den Hove, Daniel L., Rutten, Bart P. F., Wagner, Michael ORCID: 0000-0003-2589-6440 and Ramirez, Alfredo ORCID: 0000-0003-4991-763X (2016). No association of the variant rs11887120 in DNMT3A with cognitive decline in individuals with mild cognitive impairment. Epigenomics, 8 (5). S. 593 - 599. LONDON: FUTURE MEDICINE LTD. ISSN 1750-192X

Boegershausen, Nina, Tsai, I-Chun, Pohl, Esther, Kiper, Pelin Ozlem Simsek, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Percin, E. Ferda, Keupp, Katharina, Matchan, Angela, Milz, Esther, Alanay, Yasemin ORCID: 0000-0003-0683-9731, Kayserili, Hulya ORCID: 0000-0003-0376-499X, Liu, Yicheng, Banka, Siddharth ORCID: 0000-0002-8527-2210, Kranz, Andrea, Zenker, Martin, Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Elcioglu, Nursel, Prontera, Paolo ORCID: 0000-0003-4960-9223, Lyonnet, Stanislas ORCID: 0000-0001-5426-9417, Meitinger, Thomas ORCID: 0000-0002-8838-8403, Stewart, A. Francis, Donnai, Dian, Strom, Tim M., Boduroglu, Koray ORCID: 0000-0001-6260-1942, Yigit, Goekhan, Li, Yun, Katsanis, Nicholas and Wollnik, Bernd (2015). RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome. J. Clin. Invest., 125 (9). S. 3585 - 3600. ANN ARBOR: AMER SOC CLINICAL INVESTIGATION INC. ISSN 1558-8238

Carolina Dalmasso, Maria, Ignacio Brusco, Luis, Olivar, Natividad, Muchnik, Carolina, Hanses, Claudia, Milz, Esther, Becker, Julian, Heilmann-Heimbach, Stefanie, Hoffmann, Per ORCID: 0000-0002-6573-983X, Prestia, Federico A., Galeano, Pablo, Sanchez Avalos, Mariana Soledad, Eduardo Martinez, Luis, Estela Carulla, Mariana, Javier Azurmendi, Pablo, Liberczuk, Cynthia, Fezza, Cristina, Sampano, Marcelo, Fierens, Maria, Jemar, Guillermo, Solis, Patricia, Medel, Nancy, Lisso, Julieta, Sevillano, Zulma, Bosco, Paolo, Bossu, Paola, Spalletta, Gianfranco ORCID: 0000-0002-7432-4249, Galimberti, Daniela ORCID: 0000-0002-9284-5953, Mancuso, Michelangelo ORCID: 0000-0003-2738-8562, Nacmias, Benedetta, Sorbi, Sandro, Mecocci, Patrizia ORCID: 0000-0003-0729-5246, Pilotto, Alberto, Caffarra, Paolo, Panza, Francesco ORCID: 0000-0002-7220-0656, Bullido, Maria ORCID: 0000-0002-6477-1117, Clarimon, Jordi, Sanchez-Juan, Pascual, Coto, Eliecer, Sanchez-Garcia, Florentino, Graff, Caroline, Ingelsson, Martin, Bellenguez, Celine ORCID: 0000-0002-1240-7874, Miguel Castano, Eduardo, Kairiyama, Claudia, Gustavo Politis, Daniel, Kochen, Silvia, Scaro, Horacio, Maier, Wolfgang, Jessen, Frank, Alberto Mangone, Carlos, Lambert, Jean-Charles, Morelli, Laura and Ramirez, Alfredo ORCID: 0000-0003-4991-763X (2019). Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer's disease. Transl. Psychiatr., 9. NEW YORK: NATURE PUBLISHING GROUP. ISSN 2158-3188

Franzmeier, Nicolai, Ren, Jinyi, Damm, Alexander, Monte-Rubio, Gemma, Boada, Merce, Ruiz, Agustin, Ramirez, Alfredo ORCID: 0000-0003-4991-763X, Jessen, Frank, Duezel, Emrah, Rodriguez Gomez, Octavio, Benzinger, Tammie, Goate, Alison, Karch, Celeste M., Fagan, Anne M., McDade, Eric, Buerger, Katharina, Levin, Johannes ORCID: 0000-0001-5092-4306, Duering, Marco, Dichgans, Martin, Suarez-Calvet, Marc, Haass, Christian, Gordon, Brian A., Lim, Yen Ying ORCID: 0000-0002-0308-5156, Masters, Colin L., Janowitz, Daniel, Catak, Cihan, Wolfsgruber, Steffen, Wagner, Michael ORCID: 0000-0003-2589-6440, Milz, Esther, Moreno-Grau, Sonia, Teipel, Stefan, Grothe, Michel J., Kilimann, Ingo, Rossor, Martin, Fox, Nick, Laske, Christoph, Chhatwal, Jasmeer, Falkai, Peter ORCID: 0000-0003-2873-8667, Perneczky, Robert, Lee, Jae-Hong, Spottke, Annika, Boecker, Henning ORCID: 0000-0003-2346-0598, Brosseron, Frederic, Fliessbach, Klaus, Heneka, Michael T., Nestor, Peter, Peters, Oliver ORCID: 0000-0003-0568-2998, Fuentes, Manuel, Menne, Felix ORCID: 0000-0003-1574-4443, Priller, Josef ORCID: 0000-0001-7596-0979, Spruth, Eike J., Franke, Christiana ORCID: 0000-0002-5609-2472, Schneider, Anja ORCID: 0000-0001-9540-8700, Westerteicher, Christine, Speck, Oliver ORCID: 0000-0002-6019-5597, Wiltfang, Jens, Bartels, Claudia, Araque Caballero, Miguel angel, Metzger, Coraline, Bittner, Daniel, Salloway, Stephen, Danek, Adrian ORCID: 0000-0001-8857-5383, Hassenstab, Jason, Yakushev, Igor ORCID: 0000-0003-4764-798X, Schofield, Peter R., Morris, John C., Bateman, Randall J. and Ewers, Michael (2021). The BDNFVal66Met SNP modulates the association between beta-amyloid and hippocampal disconnection in Alzheimer's disease. Mol. Psychiatr., 26 (2). S. 614 - 629. LONDON: SPRINGERNATURE. ISSN 1476-5578

Li, Yun, Boegershausen, Nina, Alanay, Yasemin ORCID: 0000-0003-0683-9731, Kiper, Pelin Ozlem Simsek, Plume, Nadine, Keupp, Katharina, Pohl, Esther, Pawlik, Barbara, Rachwalski, Martin, Milz, Esther, Thoenes, Michaela, Albrecht, Beate, Prott, Eva-Christina, Lehmkuehler, Margret, Demuth, Stephanie, Utine, Gulen Eda, Boduroglu, Koray ORCID: 0000-0001-6260-1942, Frankenbusch, Katja, Borck, Guntram, Gillessen-Kaesbach, Gabriele, Yigit, Gokhan, Wieczorek, Dagmar ORCID: 0000-0003-2812-6492 and Wollnik, Bernd (2011). A mutation screen in patients with Kabuki syndrome. Hum. Genet., 130 (6). S. 715 - 725. NEW YORK: SPRINGER. ISSN 0340-6717

Schreml, Julia, Durmaz, Burak, Cogulu, Ozgur, Keupp, Katharina, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Pohl, Esther, Milz, Esther, Coker, Mahmut, Ucar, Sema Kalkan ORCID: 0000-0001-9574-7841, Nuernberg, Gudrun, Nuernberg, Peter, Kuhn, Joachim and Ozkinay, Ferda (2014). The missing link: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation. Hum. Genet., 133 (1). S. 29 - 40. NEW YORK: SPRINGER. ISSN 1432-1203

Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Boegershausen, Nina, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Steiner-Haldenstaett, Sabine, Pohl, Esther, Li, Yun, Milz, Esther, Martin, Marcel ORCID: 0000-0002-0680-200X, Thiele, Holger, Altmueller, Janine, Alanay, Yasemin ORCID: 0000-0003-0683-9731, Kayserili, Hulya ORCID: 0000-0003-0376-499X, Klein-Hitpass, Ludger, Bohringer, Stefan, Wollstein, Andreas, Albrecht, Beate, Boduroglu, Koray ORCID: 0000-0001-6260-1942, Caliebe, Almuth ORCID: 0000-0003-2157-425X, Chrzanowska, Krystyna ORCID: 0000-0003-3888-0624, Cogulu, Ozgur, Cristofoli, Francesca, Czeschik, Johanna Christina ORCID: 0000-0002-9254-0084, Devriendt, Koenraad, Dotti, Maria Teresa, Elcioglu, Nursel, Gener, Blanca, Goecke, Timm O., Krajewska-Walasek, Malgorzata ORCID: 0000-0001-8721-210X, Guillen-Navarro, Encarnacion, Hayek, Joussef, Houge, Gunnar, Kilic, Esra, Simsek-Kiper, Pelin Ozlem, Lopez-Gonzalez, Vanesa, Kuechler, Alma, Lyonnet, Stanislas ORCID: 0000-0001-5426-9417, Mari, Francesca ORCID: 0000-0003-1992-1654, Marozza, Annabella, Dramard, Michele Mathieu, Mikat, Barbara, Morin, Gilles, Morice-Picard, Fanny, Ozkinay, Ferda, Rauch, Anita ORCID: 0000-0003-2930-3163, Renieri, Alessandra ORCID: 0000-0002-0846-9220, Tinschert, Sigrid, Utine, G. Eda, Vilain, Catheline, Vivarelli, Rossella, Zweier, Christiane ORCID: 0000-0001-8002-2020, Nuernberg, Peter, Rahmann, Sven, Vermeesch, Joris, Luedecke, Hermann-Josef, Zeschnigk, Michael and Wollnik, Bernd (2013). A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum. Mol. Genet., 22 (25). S. 5121 - 5136. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083