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Journal Article
Beygo, Jasmin, Elbracht, Miriam, de Groot, Karel 
ORCID: 0000-0003-4554-9796, Begemann, Matthias ORCID: 0000-0002-4659-8437, Kanber, Deniz, Platzer, Konrad ORCID: 0000-0001-6127-6308, Gillessen-Kaesbach, Gabriele, Vierzig, Anne, Green, Andrew ORCID: 0000-0002-1077-7417, Heller, Raoul, Buiting, Karin and Eggermann, Thomas
(2015).
Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32.
Eur. J. Hum. Genet., 23 (2).
S. 180 - 189.
LONDON:
NATURE PUBLISHING GROUP.
ISSN 1476-5438
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
Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809, Battaglia, Agatino ORCID: 0000-0002-7128-7606, Szczepanski, Sandra, Kaygusuz, Emrah, Toliat, Mohammad Reza, Sakakibara, Shin-ichi ORCID: 0000-0001-8983-2249, Altmueller, Janine, Thiele, Holger, Nuernberg, Gudrun, Moosa, Shahida ORCID: 0000-0002-4463-3067, Yigit, Goekhan, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Tinschert, Sigrid, Clayton-Smith, Jill, Vasudevan, Pradeep, Urquhart, Jill E., Donnai, Dian, Fryer, Alan, Percin, Ferda ORCID: 0000-0001-9317-8155, Brancati, Francesco, Dobbie, Angus, Smigiel, Robert, Gillessen-Kaesbach, Gabriele, Wollnik, Bernd, Noegel, Angelika Anna, Newman, William G. and Nuernberg, Peter
(2014).
Mutations in CKAP2L, the Human Homo log of the Mouse Radmis Gene, Cause Filippi Syndrome.
Am. J. Hum. Genet., 95 (5).
S. 622 - 633.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
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
Marbach, Felix, Elgizouli, Magdeldin, Rech, Megan ORCID: 0000-0002-3037-2521, Beygo, Jasmin, Erger, Florian, Velmans, Clara, Stumpel, Constance T. R. M., Stegmann, Alexander P. A., Beck-Wodl, Stefanie, Gillessen-Kaesbach, Gabriele, Horsthemke, Bernhard, Schaaf, Christian P. and Kuechler, Alma
(2020).
The adult phenotype of Schaaf-Yang syndrome.
Orphanet J. Rare Dis., 15 (1).
LONDON:
BMC.
ISSN 1750-1172
Paolacci, Stefano ORCID: 0000-0002-5551-7520, Li, Yun, Agolini, Emanuele ORCID: 0000-0001-6543-6225, Bellacchio, Emanuele ORCID: 0000-0002-2757-849X, Arboleda-Bustos, Carlos E., Carrero, Dido, Bertola, Debora, Al-Gazali, Lihadh, Alders, Mariel, Altmueller, Janine, Arboleda, Gonzalo, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Bruselles, Alessandro ORCID: 0000-0002-1556-4998, Ciolfi, Andrea, Gillessen-Kaesbach, Gabriele, Krieg, Thomas, Mohammed, Shehla, Mueller, Christian, Noyelli, Antonio, Ortega, Jenny, Sandoval, Adrian, Velasco, Gloria, Yigit, Goekhan, Arboleda, Humberto, Lopez-Otin, Carlos ORCID: 0000-0001-6964-1904, Wollnik, Bernd, Tartaglia, Marco ORCID: 0000-0001-7736-9672 and Hennekam, Raoul C.
(2018).
Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.
J. Med. Genet., 55 (12).
S. 837 - 846.
LONDON:
BMJ PUBLISHING GROUP.
ISSN 1468-6244
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