C
Christiane Zweier
Researcher at University of Erlangen-Nuremberg
Publications - 153
Citations - 9147
Christiane Zweier is an academic researcher from University of Erlangen-Nuremberg. The author has contributed to research in topics: Missense mutation & Exome sequencing. The author has an hindex of 43, co-authored 142 publications receiving 7755 citations. Previous affiliations of Christiane Zweier include Radboud University Nijmegen Medical Centre & University of Bern.
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Journal ArticleDOI
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Anita Rauch,Dagmar Wieczorek,Elisabeth Graf,Thomas Wieland,Sabine Endele,Thomas Schwarzmayr,Beate Albrecht,Deborah Bartholdi,Jasmin Beygo,Nataliya Di Donato,Andreas Dufke,Kirsten Cremer,Maja Hempel,Denise Horn,Juliane Hoyer,Pascal Joset,Albrecht Röpke,Ute Moog,Angelika Riess,Christian Thiel,Andreas Tzschach,Antje Wiesener,Eva Wohlleber,Christiane Zweier,Arif B. Ekici,Alexander M. Zink,Andreas Rump,Christa Meisinger,Harald Grallert,Heinrich Sticht,Annette Schenck,Hartmut Engels,Gudrun A. Rappold,Evelin Schröck,Peter Wieacker,Olaf Riess,Thomas Meitinger,André Reis,Tim M. Strom +38 more
TL;DR: The large number of de-novo variants in known intellectual disability genes is only partially attributable to known non-specific phenotypes, suggesting a strong bias in present clinical syndrome descriptions.
Journal ArticleDOI
Transcription factor E2-2 is an essential and specific regulator of plasmacytoid dendritic cell development
Babacar Cisse,Michele L. Caton,Manfred Lehner,Takahiro Maeda,Stefanie Scheu,Stefanie Scheu,Richard M. Locksley,Dan Holmberg,Christiane Zweier,Nicolette S. den Hollander,Sarina G. Kant,Wolfgang Holter,Anita Rauch,Yuan Zhuang,Boris Reizis +14 more
TL;DR: It is reported that basic helix-loop-helix transcription factor E2-2/Tcf4 is preferentially expressed in murine and human PDCs and revealed a key function of E proteins in the innate immune system.
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Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.
Anita Rauch,Juliane Hoyer,Sabine Guth,Christiane Zweier,Cornelia Kraus,Christian Becker,Martin Zenker,Ulrike Hüffmeier,Christian Thiel,Franz Rüschendorf,Peter Nürnberg,André Reis,Udo Trautmann +12 more
TL;DR: The diagnostic yield of conventional karyotyping, subtelomeric screening, molecular karyotypes, X‐inactivation studies, and dysmorphological evaluation with targeted laboratory testing in unselected patients referred for developmental delay or mental retardation is analyzed.
Journal ArticleDOI
Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism
Anita Rauch,Christian Thiel,Detlev Schindler,Ursula Wick,Yanick J. Crow,Arif B. Ekici,Anthonie J. van Essen,Timm O. Goecke,Lihadh Al-Gazali,Krystyna H. Chrzanowska,Christiane Zweier,Han G. Brunner,Kristin Becker,Cynthia J. Curry,Bruno Dallapiccola,Koenraad Devriendt,Arnd Dörfler,Esther Kinning,André Mégarbané,Peter Meinecke,Robert K. Semple,Stephanie Spranger,Annick Toutain,Richard C. Trembath,Egbert Voss,Louise C. Wilson,Raoul C.M. Hennekam,Raoul C.M. Hennekam,Raoul C.M. Hennekam,Francis de Zegher,Helmuth G. Dörr,André Reis +31 more
TL;DR: Using genetic linkage analysis, the authors found that mutations in the centrosomal pericentrin (PCNT) gene on chromosome 21q22.3 cause microcephalic osteodysplastic primordial dwarfism type II (MOPD II) in 25 patients.
Journal ArticleDOI
CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.
Christiane Zweier,Christiane Zweier,Eiko K. de Jong,Markus Zweier,Alfredo Orrico,Lilian Bomme Ousager,Amanda L. Collins,Emilia K. Bijlsma,Merel A.W. Oortveld,Arif B. Ekici,André Reis,Annette Schenck,Anita Rauch,Anita Rauch +13 more
TL;DR: It is proposed that an analogous shared synaptic mechanism contributes to the similar clinical phenotypes resulting from defects in human NRXN1 and CNTNAP2.