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

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

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De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability von 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

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A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency von Buchert, Rebecca, Tawamie, Hasan, Smith, Christopher, Uebe, Steffen, Innes, A. Micheil, Al Hallak, Bassam, Ekici, Arif B., Sticht, Heinrich, Schwarze, Bernd, Lamont, Ryan E., Parboosingh, Jillian S., Bernier, Francois P., Abou Jamra, Rami

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Genetic studies of urinary metabolites illuminate mechanisms of detoxification and excretion in humans von Schlosser, Pascal, Li, Yong, Sekula, Peggy, Raffler, Johannes, Grundner-Culemann, Franziska, Pietzner, Maik, Cheng, Yurong, Wuttke, Matthias, Steinbrenner, Inga, Schultheiss, Ulla T., Kotsis, Fruzsina, Kacprowski, Tim, Forer, Lukas, Hausknecht, Birgit, Ekici, Arif B., Nauck, Matthias, Völker, Uwe, Walz, Gerd, Oefner, Peter J., Kronenberg, Florian, Mohney, Robert P., Köttgen, Michael, Suhre, Karsten, Eckardt, Kai-Uwe, Kastenmüller, Gabi, Köttgen, Anna

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Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin Signaling von Vasileiou, Georgia, Ekici, Arif B., Uebe, Steffen, Zweier, Christiane, Hoyer, Juliane, Engels, Hartmut, Behrens, Jürgen, Reis, André, Hadjihannas, Michel V.

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Polyol Pathway Links Glucose Metabolism to the Aggressiveness of Cancer Cells von Schwab, Annemarie, Siddiqui, Aarif, Vazakidou, Maria Eleni, Napoli, Francesca, Böttcher, Martin, Menchicchi, Bianca, Raza, Umar, Saatci, Özge, Krebs, Angela M, Ferrazzi, Fulvia, Rapa, Ida, Dettmer-Wilde, Katja, Waldner, Maximilian J, Ekici, Arif B, Rasheed, Suhail Ahmed Kabeer, Mougiakakos, Dimitrios, Oefner, Peter J, Sahin, Ozgur, Volante, Marco, Greten, Florian R, Brabletz, Thomas, Ceppi, Paolo

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Reset of Inflammatory Priming of Joint Tissue and Reduction of the Severity of Arthritis Flares by Bromodomain Inhibition von Friščić, Jasna, Reinwald, Christiane, Böttcher, Martin, Houtman, Miranda, Euler, Maximilien, Chen, Xi, Walker, Kellie I., Kirchner, Philipp, Zhu, Honglin, Wirth, Benjamin, Weidner, Daniela, Krüger, René, Trajkovic, Vladimir, Ekici, Arif B., Klein, Kerstin, Mougiakakos, Dimitrios, Ospelt, Caroline, Schett, Georg, Hoffmann, Markus H.

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Single-cell RNA sequencing of adult mouse testes von Lukassen, Soeren, Bosch, Elisabeth, Ekici, Arif B., Winterpacht, Andreas

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The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy von Hebebrand, Moritz, Hüffmeier, Ulrike, Trollmann, Regina, Hehr, Ute, Uebe, Steffen, Ekici, Arif B, Kraus, Cornelia, Krumbiegel, Mandy, Reis, André, Thiel, Christian T, Popp, Bernt

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

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MicroRNA profiles of prostate carcinoma detected by multiplatform microRNA screening von Wach, Sven, Nolte, Elke, Szczyrba, Jaroslaw, Stöhr, Robert, Hartmann, Arndt, Ørntoft, Torben, Dyrskjøt, Lars, Eltze, Elke, Wieland, Wolf, Keck, Bastian, Ekici, Arif B., Grässer, Friedrich, Wullich, Bernd

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Impaired ATF3 signaling involves SNAP25 in SOD1 mutant ALS patients von Yazar, Volkan, Kühlwein, Julia K., Knehr, Antje, Grozdanov, Veselin, Ekici, Arif B., Ludolph, Albert C., Danzer, Karin M.

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Th2 single-cell heterogeneity and clonal distribution at distant sites in helminth-infected mice von Radtke, Daniel, Thuma, Natalie, Schülein, Christine, Kirchner, Philipp, Ekici, Arif B, Schober, Kilian, Voehringer, David

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Reduced syncytin-1 expression levels in placental syndromes correlates with epigenetic hypermethylation of the ERVW-1 promoter region von Ruebner, Matthias, Strissel, Pamela L, Ekici, Arif B, Stiegler, Elisabeth, Dammer, Ulf, Goecke, Tamme W, Faschingbauer, Florian, Fahlbusch, Fabian B, Beckmann, Matthias W, Strick, Reiner

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Paradoxical antidepressant effects of alcohol are related to acid sphingomyelinase and its control of sphingolipid homeostasis von Müller, Christian P., Kalinichenko, Liubov S., Tiesel, Jens, Witt, Matthias, Stöckl, Thomas, Sprenger, Eva, Fuchser, Jens, Beckmann, Janine, Praetner, Marc, Huber, Sabine E., Amato, Davide, Mühle, Christiane, Büttner, Christian, Ekici, Arif B., Smaga, Irena, Pomierny-Chamiolo, Lucyna, Pomierny, Bartosz, Filip, Malgorzata, Eulenburg, Volker, Gulbins, Erich, Lourdusamy, Anbarasu, Reichel, Martin, Kornhuber, Johannes

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Choline transporter‐like1 (CHER1) is crucial for plasmodesmata maturation in Arabidopsis thaliana von Kraner, Max E., Link, Katrin, Melzer, Michael, Ekici, Arif B., Uebe, Steffen, Tarazona, Pablo, Feussner, Ivo, Hofmann, Jörg, Sonnewald, Uwe

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Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations von Wenzel, Andrea, Altmueller, Janine, Ekici, Arif B., Popp, Bernt, Stueber, Kurt, Thiele, Holger, Pannes, Alois, Staubach, Simon, Salido, Eduardo, Nuernberg, Peter, Reinhardt, Richard, Reis, André, Rump, Patrick, Hanisch, Franz-Georg, Wolf, Matthias T. F., Wiesener, Michael, Huettel, Bruno, Beck, Bodo B.

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Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition von Knaup, Karl X, Hackenbeck, Thomas, Popp, Bernt, Stoeckert, Johanna, Wenzel, Andrea, Büttner-Herold, Maike, Pfister, Frederick, Schueler, Markus, Seven, Didem, May, Annette M, Halbritter, Jan, Gröne, Hermann-Josef, Reis, André, Beck, Bodo B, Amann, Kerstin, Ekici, Arif B, Wiesener, Michael S

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NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski von Thiel, Christian, Kessler, Kristin, Giessl, Andreas, Dimmler, Arno, Shalev, Stavit A., von der Haar, Sigrun, Zenker, Martin, Zahnleiter, Diana, Stöss, Hartmut, Beinder, Ernst, Abou Jamra, Rami, Ekici, Arif B., Schröder-Kreß, Nadja, Aigner, Thomas, Kirchner, Thomas, Reis, André, Brandstätter, Johann H., Rauch, Anita

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