Universität zu Köln

Journal Article

Gangfuss, Andrea ORCID: 0000-0002-9975-0092, Yigit, Goekhan, Altmueller, Janine, Nuernberg, Peter, Czeschik, Johanna Christina, Wollnik, Bernd ORCID: 0000-0003-2589-0364, Boegershausen, Nina, Burfeind, Peter, Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Kaiser, Frank, Roos, Andreas, Koelbel, Heike, Schara-Schmidt, Ulrike and Kuechler, Alma (2021). Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study. Am. J. Med. Genet. A, 185 (4). S. 1216 - 1222. HOBOKEN: WILEY. ISSN 1552-4833

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

Schaefer, Elise, Collet, Corinne, Genevieve, David, Vincent, Marie ORCID: 0000-0003-1010-5618, Lohmann, Dietmar R. ORCID: 0000-0002-2624-9889, Sanchez, Elodie, Bolender, Chantal, Eliot, Marie-Madeleine, Nuernberg, Gudrun, Passos-Bueno, Maria-Rita, Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Van Maldergem, Lionel ORCID: 0000-0001-8880-5214 and Doray, Berenice (2014). Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome. Genet. Med., 16 (9). S. 720 - 725. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1530-0366

Murray, Jennie E., Bicknell, Louise S., Yigit, Goekhan, Duker, Angela L., van Kogelenberg, Margriet, Haghayegh, Sara, Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Kayserili, Huelya, Albert, Michael H., Wise, Carol A., Brandon, January, Kleefstra, Tjitske, Warris, Adilia ORCID: 0000-0001-6586-3358, van der Flier, Michiel, Bamforth, J. Steven, Doonanco, Kurston, Ades, Lesley, Ma, Alan, Field, Michael, Johnson, Diana, Shackley, Fiona, Firth, Helen, Woods, C. Geoffrey, Nuernberg, Peter, Gatti, Richard A., Hurles, Matthew, Bober, Michael B., Wollnik, Bernd and Jackson, Andrew P. (2014). Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency. Hum. Mutat., 35 (1). S. 76 - 86. HOBOKEN: WILEY. ISSN 1098-1004

Ehmke, Nadja, Caliebe, Almuth ORCID: 0000-0003-2157-425X, Koenig, Rainer, Kant, Sarina G., Stark, Zornitza, Cormier-Daire, Valerie, Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Gillessen-Kaesbach, Gabriele, Hoff, Kirstin, Kawalia, Amit, Thiele, Holger, Altmueller, Janine, Fischer-Zirnsak, Bjoern, Knaus, Alexej, Zhu, Na ORCID: 0000-0001-6460-3087, Heinrich, Verena, Huber, Celine, Harabula, Izabela, Spielmann, Malte ORCID: 0000-0002-0583-4683, Horn, Denise, Komak, Uwe, Hecht, Jochen, Krawitz, Peter M., Nuernberg, Peter, Siebert, Reiner, Manzke, Hermann and Mundlos, Stefan (2014). Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome. Am. J. Hum. Genet., 95 (6). S. 763 - 771. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Borck, Guntram, de Vries, Liat, Wu, Hsin-Jung, Smirin-Yosef, Pola, Nuernberg, Gudrun, Lagovsky, Irina, Ishida, Luis Henrique, Thierry, Patrick, Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Nuernberg, Peter, Foley, John, Kubisch, Christian ORCID: 0000-0003-4220-0978 and Basel-Vanagaite, Lina (2014). Homozygous truncating PTPRF mutation causes athelia. Hum. Genet., 133 (8). S. 1041 - 1048. 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

Zweier, Christiane ORCID: 0000-0001-8002-2020, Kraus, Cornelia, Brueton, Louise, Cole, Trevor, Degenhardt, Franziska, Engels, Hartmut, Gillessen-Kaesbach, Gabriele, Graul-Neumann, Luitgard, Horn, Denise, Hoyer, Juliane, Just, Walter, Rauch, Anita ORCID: 0000-0003-2930-3163, Reis, Andre ORCID: 0000-0002-6301-6363, Wollnik, Bernd, Zeschnigk, Michael, Luedecke, Hermann-Josef and Wieczorek, Dagmar ORCID: 0000-0003-2812-6492 (2013). A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype. J. Med. Genet., 50 (12). S. 838 - 848. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

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