Human TBX1 Missense Mutations Cause Gain of Function Resulting in the Same Phenotype as 22q11.2 Deletions

Por Zweier, Christiane, Sticht, Heinrich, Aydin-Yaylagül, Inci, Campbell, Christine E., Rauch, Anita
Publicado em 2007

Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin Signaling

Por Vasileiou, Georgia, Ekici, Arif B., Uebe, Steffen, Zweier, Christiane, Hoyer, Juliane, Engels, Hartmut, Behrens, Jürgen, Reis, André, Hadjihannas, Michel V.
Publicado no Am J Hum Genet (2015)

Severely Incapacitating Mutations in Patients with Extreme Short Stature Identify RNA-Processing Endoribonuclease RMRP as an Essential Cell Growth Regulator

Por Thiel, Christian T. , Horn, Denise , Zabel, Bernhard , Ekici, Arif B. , Salinas, Kelly , Gebhart, Erich , Rüschendorf, Franz , Sticht, Heinrich , Spranger, Jürgen , Müller, Dietmar , Zweier, Christiane , Schmitt, Mark E. , Reis, André , Rauch, Anita 
Publicado em 2005

Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules

Por Kochinke, Korinna, Zweier, Christiane, Nijhof, Bonnie, Fenckova, Michaela, Cizek, Pavel, Honti, Frank, Keerthikumar, Shivakumar, Oortveld, Merel A.W., Kleefstra, Tjitske, Kramer, Jamie M., Webber, Caleb, Huynen, Martijn A., Schenck, Annette
Publicado no Am J Hum Genet (2016)

Transcription factor E2-2 is an essential and specific regulator of plasmacytoid dendritic cell development

Por Cisse, Babacar, Caton, Michele L., Lehner, Manfred, Maeda, Takahiro, Scheu, Stefanie, Locksley, Richard, Holmberg, Dan, Zweier, Christiane, den Hollander, Nicolette S., Kant, Sarina G., Holter, Wolfgang, Rauch, Anita, Zhuang, Yuan, Reizis, Boris
Publicado em 2008

De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability

Por Gregor, Anne, Oti, Martin, Kouwenhoven, Evelyn N., Hoyer, Juliane, Sticht, Heinrich, Ekici, Arif B., Kjaergaard, Susanne, Rauch, Anita, Stunnenberg, Hendrik G., Uebe, Steffen, Vasileiou, Georgia, Reis, André, Zhou, Huiqing, Zweier, Christiane
Publicado em 2013

CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila

Por Zweier, Christiane, de Jong, Eiko K., Zweier, Markus, Orrico, Alfredo, Ousager, Lilian B., Collins, Amanda L., Bijlsma, Emilia K., Oortveld, Merel A.W., Ekici, Arif B., Reis, André, Schenck, Annette, Rauch, Anita
Publicado em 2009

Dosage-Dependent Severity of the Phenotype in Patients with Mental Retardation Due to a Recurrent Copy-Number Gain at Xq28 Mediated by an Unusual Recombination

Por Vandewalle, Joke, Van Esch, Hilde, Govaerts, Karen, Verbeeck, Jelle, Zweier, Christiane, Madrigal, Irene, Mila, Montserrat, Pijkels, Elly, Fernandez, Isabel, Kohlhase, Jürgen, Spaich, Christiane, Rauch, Anita, Fryns, Jean-Pierre, Marynen, Peter, Froyen, Guy
Publicado em 2009

Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome

Por van Rahden, Vanessa A, Rau, Isabella, Fuchs, Sigrid, Kosyna, Friederike K, de Almeida, Hiram Larangeira, Fryssira, Helen, Isidor, Bertrand, Jauch, Anna, Joubert, Madeleine, Lachmeijer, Augusta M A, Zweier, Christiane, Moog, Ute, Kutsche, Kerstin
Publicado em 2014

Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for...

Por Griffin, Helen R, Töpf, Ana, Glen, Elise, Zweier, Christiane, Stuart, A Graham, Parsons, Jonathan, Peart, Ian, Deanfield, John, O'Sullivan, John, Rauch, Anita, Scambler, Peter, Burn, John, Cordell, Heather J, Keavney, Bernard, Goodship, Judith A
Publicado em 2010

Zeb2 Recruits HDAC-NuRD to Inhibit Notch and Controls Schwann Cell Differentiation and Remyelination

Por Wu, Lai Man Natalie, Wang, Jincheng, Conidi, Andrea, Zhao, Chuntao, Wang, Haibo, Ford, Zachary, Zhang, Liguo, Zweier, Christiane, Ayee, Brian G., Maurel, Patrice, Zwijsen, An, Chan, Jonah R., Jankowski, Michael P., Huylebroeck, Danny, Lu, Q. Richard
Publicado no Nat Neurosci (2016)

Molecular karyotyping in patients with mental retardation using 100K single‐nucleotide polymorphism arrays

Por Hoyer, Juliane, Dreweke, Alexander, Becker, Christian, Göhring, Ina, Thiel, Christian T, Peippo, Maarit M, Rauch, Ralf, Hofbeck, Michael, Trautmann, Udo, Zweier, Christiane, Zenker, Martin, Hüffmeier, Ulrike, Kraus, Cornelia, Ekici, Arif B, Rüschendorf, Franz, Nürnberg, Peter, Reis, André, Rauch, Anita
Publicado em 2007

Transcriptional repressor ZEB2 promotes terminal differentiation of CD8(+) effector and memory T cell populations during infection

Por Omilusik, Kyla D., Best, J. Adam, Yu, Bingfei, Goossens, Steven, Weidemann, Alexander, Nguyen, Jessica V., Seuntjens, Eve, Stryjewska, Agata, Zweier, Christiane, Roychoudhuri, Rahul, Gattinoni, Luca, Bird, Lynne M., Higashi, Yujiro, Kondoh, Hisato, Huylebroeck, Danny, Haigh, Jody, Goldrath, Ananda W.
Publicado no J Exp Med (2015)

Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

Por Hoyer, Juliane, Ekici, Arif B., Endele, Sabine, Popp, Bernt, Zweier, Christiane, Wiesener, Antje, Wohlleber, Eva, Dufke, Andreas, Rossier, Eva, Petsch, Corinna, Zweier, Markus, Göhring, Ina, Zink, Alexander M., Rappold, Gudrun, Schröck, Evelin, Wieczorek, Dagmar, Riess, Olaf, Engels, Hartmut, Rauch, Anita, Reis, André
Publicado em 2012

Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature

Por Hauer, Nadine N., Sticht, Heinrich, Boppudi, Sangamitra, Büttner, Christian, Kraus, Cornelia, Trautmann, Udo, Zenker, Martin, Zweier, Christiane, Wiesener, Antje, Jamra, Rami Abou, Wieczorek, Dagmar, Kelkel, Jaqueline, Jung, Anna-Maria, Uebe, Steffen, Ekici, Arif. B, Rohrer, Tilman, Reis, André, Dörr, Helmuth-Günther, Thiel, Christian T.
Publicado no Sci Rep (2017)

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

Por Gregor, Anne, Albrecht, Beate, Bader, Ingrid, Bijlsma, Emilia K, Ekici, Arif B, Engels, Hartmut, Hackmann, Karl, Horn, Denise, Hoyer, Juliane, Klapecki, Jakub, Kohlhase, Jürgen, Maystadt, Isabelle, Nagl, Sandra, Prott, Eva, Tinschert, Sigrid, Ullmann, Reinhard, Wohlleber, Eva, Woods, Geoffrey, Reis, André, Rauch, Anita, Zweier, Christiane
Publicado em 2011

Human Intellectual Disability Genes Form Conserved Functional Modules in Drosophila

Por Oortveld, Merel A. W., Keerthikumar, Shivakumar, Oti, Martin, Nijhof, Bonnie, Fernandes, Ana Clara, Kochinke, Korinna, Castells-Nobau, Anna, van Engelen, Eva, Ellenkamp, Thijs, Eshuis, Lilian, Galy, Anne, van Bokhoven, Hans, Habermann, Bianca, Brunner, Han G., Zweier, Christiane, Verstreken, Patrik, Huynen, Martijn A., Schenck, Annette
Publicado em 2013

Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)

Por Zweier, Christiane, Peippo, Maarit M., Hoyer, Juliane, Sousa, Sérgio, Bottani, Armand, Clayton-Smith, Jill, Reardon, William, Saraiva, Jorge, Cabral, Alexandra, Göhring, Ina, Devriendt, Koen, de Ravel, Thomy, Bijlsma, Emilia K., Hennekam, Raoul C. M., Orrico, Alfredo, Cohen, Monika, Dreweke, Alexander, Reis, André, Nürnberg, Peter, Rauch, Anita
Publicado em 2007

SOS1 is the second most common Noonan gene but plays no major role in cardio‐facio‐cutaneous syndrome

Por Zenker, Martin, Horn, Denise, Wieczorek, Dagmar, Allanson, Judith, Pauli, Silke, van der Burgt, Ineke, Doerr, Helmuth‐Guenther, Gaspar, Harald, Hofbeck, Michael, Gillessen‐Kaesbach, Gabriele, Koch, Andreas, Meinecke, Peter, Mundlos, Stefan, Nowka, Anja, Rauch, Anita, Reif, Silke, von Schnakenburg, Christian, Seidel, Heide, Wehner, Lars‐Erik, Zweier, Christiane, Bauhuber, Susanne, Matejas, Verena, Kratz, Christian P, Thomas, Christoph, Kutsche, Kerstin
Publicado em 2007

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome

Por Kuechler, Alma, Zink, Alexander M, Wieland, Thomas, Lüdecke, Hermann-Josef, Cremer, Kirsten, Salviati, Leonardo, Magini, Pamela, Najafi, Kimia, Zweier, Christiane, Czeschik, Johanna Christina, Aretz, Stefan, Endele, Sabine, Tamburrino, Federica, Pinato, Claudia, Clementi, Maurizio, Gundlach, Jasmin, Maylahn, Carina, Mazzanti, Laura, Wohlleber, Eva, Schwarzmayr, Thomas, Kariminejad, Roxana, Schlessinger, Avner, Wieczorek, Dagmar, Strom, Tim M, Novarino, Gaia, Engels, Hartmut
Publicado no Eur J Hum Genet (2015)