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Asadollahi, Reza, Strauss, Justin E., Zenker, Martin, Beuing, Oliver ORCID: 0000-0001-8033-063X, Edvardson, Simon, Elpeleg, Orly, Strom, Tim M., Joset, Pascal, Niedrist, Dunja, Otte, Christine, Oneda, Beatrice, Boonsawat, Paranchai, Azzarello-Burri, Silvia, Bartholdi, Deborah, Papik, Michael, Zweier, Markus, Haas, Cordula
ORCID: 0000-0001-8122-1427, Ekici, Arif B., Baumer, Alessandra, Boltshauser, Eugen, Steindl, Katharina, Nothnagel, Michael
ORCID: 0000-0001-8305-7114, Schinzel, Albert, Stoeckli, Esther T. and Rauch, Anita
ORCID: 0000-0003-2930-3163
(2018).
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.
Eur. J. Hum. Genet., 26 (2).
S. 197 - 210.
LONDON:
NATURE PUBLISHING GROUP.
ISSN 1476-5438
Rosin, Nadine, Elcioglu, Nursel H., Beleggia, Filippo ORCID: 0000-0003-0234-7094, Isguven, Pinar, Altmueller, Janine, Thiele, Holger, Steindl, Katharina, Joset, Pascal, Rauch, Anita
ORCID: 0000-0003-2930-3163, Nuernberg, Peter, Wollnik, Bernd and Yigit, Goekhan
(2015).
Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.
Hum. Mol. Genet., 24 (13).
S. 3708 - 3718.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2083
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
Yigit, Goekhan, Brown, Karen E., Kayserili, Hulya ORCID: 0000-0003-0376-499X, Pohl, Esther, Caliebe, Almuth
ORCID: 0000-0003-2157-425X, Zahnleiter, Diana, Rosser, Elisabeth, Boegershausen, Nina, Uyguner, Zehra Oya, Altunoglu, Umut, Nuernberg, Gudrun, Nuernberg, Peter, Rauch, Anita
ORCID: 0000-0003-2930-3163, Li, Yun, Thiel, Christian Thomas and Wollnik, Bernd
(2015).
Mutations in CDK5RAP2 cause Seckel syndrome.
Mol. Genet. Genom. Med., 3 (5).
S. 467 - 481.
HOBOKEN:
WILEY.
ISSN 2324-9269
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