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A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

Khan, Muzammil A. ; Rupp, Verena M. ; Orpinell, Meritxell ; Hussain, Muhammad S. ; Altmüller, Janine ; Steinmetz, Michel O. ; Enzinger, Christian ; Thiele, Holger ; Höhne, Wolfgang ; Nürnberg, Gudrun ; Baig, Shahid M. ; Ansar, Muhammad ; Nürnberg, Peter ; Vincent, John B. ; Speicher, Michael R. ; Gönczy, Pierre ; Windpassinger, Christian

In: Human Molecular Genetics, 2014, vol. 23, no. 22, p. 5940-5949

Consortium of Swiss Academic Libraries

Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability

Rosin, Nadine ; Elcioglu, Nursel H. ; Beleggia, Filippo ; Isgüven, Pinar ; Altmüller, Janine ; Thiele, Holger ; Steindl, Katharina ; Joset, Pascal ; Rauch, Anita ; Nürnberg, Peter ; Wollnik, Bernd ; Yigit, Gökhan

In: Human Molecular Genetics, 2015, vol. 24, no. 13, p. 3708-3717

Consortium of Swiss Academic Libraries

Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene

Elsayed, Solaf M. ; Phillips, Jennifer B. ; Heller, Raoul ; Thoenes, Michaela ; Elsobky, Ezzat ; Nürnberg, Gudrun ; Nürnberg, Peter ; Seland, Saskia ; Ebermann, Inga ; Altmüller, Janine ; Thiele, Holger ; Toliat, Mohammad ; Körber, Friederike ; Hu, Xue-Jia ; Wu, Yun-Dong ; Zaki, Maha S. ; Abdel-Salam, Ghada ; Gleeson, Joseph ; Boltshauser, Eugen ; Westerfield, Monte ; Bolz, Hanno J.

In: Human Molecular Genetics, 2015, vol. 24, no. 9, p. 2594-2603

Consortium of Swiss Academic Libraries

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

Wieczorek, Dagmar ; Bögershausen, Nina ; Beleggia, Filippo ; Steiner-Haldenstätt, Sabine ; Pohl, Esther ; Li, Yun ; Milz, Esther ; Martin, Marcel ; Thiele, Holger ; Altmüller, Janine ; Alanay, Yasemin ; Kayserili, Hülya ; Klein-Hitpass, Ludger ; Böhringer, Stefan ; Wollstein, Andreas ; Albrecht, Beate ; Boduroglu, Koray ; Caliebe, Almuth ; Chrzanowska, Krystyna ; Cogulu, Ozgur ; Cristofoli, Francesca ; Czeschik, Johanna Christina ; Devriendt, Koenraad ; Dotti, Maria Teresa ; Elcioglu, Nursel ; Gener, Blanca ; Goecke, Timm O. ; Krajewska-Walasek, Małgorzata ; Guillén-Navarro, Encarnación ; Hayek, Joussef ; Houge, Gunnar ; Kilic, Esra ; Simsek-Kiper, Pelin Özlem ; López-González, Vanesa ; Kuechler, Alma ; Lyonnet, Stanislas ; Mari, Francesca ; Marozza, Annabella ; Mathieu Dramard, Michèle ; Mikat, Barbara ; Morin, Gilles ; Morice-Picard, Fanny ; Özkinay, Ferda ; Rauch, Anita ; Renieri, Alessandra ; Tinschert, Sigrid ; Utine, G. Eda ; Vilain, Catheline ; Vivarelli, Rossella ; Zweier, Christiane ; Nürnberg, Peter ; Rahmann, Sven ; Vermeesch, Joris ; Lüdecke, Hermann-Josef ; Zeschnigk, Michael ; Wollnik, Bernd

In: Human Molecular Genetics, 2013, vol. 22, no. 25, p. 5121-5135

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