Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions von Lupiáñez, Darío G., Kraft, Katerina, Heinrich, Verena, Krawitz, Peter, Brancati, Francesco, Klopocki, Eva, Horn, Denise, Kayserili, Hülya, Opitz, John M., Laxova, Renata, Santos-Simarro, Fernando, Gilbert-Dussardier, Brigitte, Wittler, Lars, Borschiwer, Marina, Haas, Stefan A., Osterwalder, Marco, Franke, Martin, Timmermann, Bernd, Hecht, Jochen, Spielmann, Malte, Visel, Axel, Mundlos, Stefan

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CNVs of noncoding cis -regulatory elements in human disease von Spielmann, Malte, Klopocki, Eva

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Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog) von Will, Anja J, Cova, Giulia, Osterwalder, Marco, Chan, Wing-Lee, Wittler, Lars, Brieske, Norbert, Heinrich, Verena, de Villartay, Jean-Pierre, Vingron, Martin, Klopocki, Eva, Visel, Axel, Lupiáñez, Darío G, Mundlos, Stefan

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Negative enrichment by immunomagnetic nanobeads for unbiased characterization of circulating tumor cells from peripheral blood of cancer patients von Liu, Zhian, Fusi, Alberto, Klopocki, Eva, Schmittel, Alexander, Tinhofer, Ingeborg, Nonnenmacher, Anika, Keilholz, Ulrich

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Investigation of alpl expression and Tnap-activity in zebrafish implies conserved functions during skeletal and neuronal development von Ohlebusch, Barbara, Borst, Angela, Frankenbach, Tina, Klopocki, Eva, Jakob, Franz, Liedtke, Daniel, Graser, Stephanie

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Generation of induced pluripotent stem cell line (UKWNLi008) derived from a patient carrying a c.1678C>G variant in the transient receptor potential cation channel subfamily A memb... von Schottmann, Nicole Michelle, Klug, Katharina, Klopocki, Eva, Üçeyler, Nurcan

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Fine Mapping of the 1p36 Deletion Syndrome Identifies Mutation of PRDM16 as a Cause of Cardiomyopathy von Arndt, Anne-Karin, Schafer, Sebastian, Drenckhahn, Jorg-Detlef, Sabeh, M. Khaled, Plovie, Eva R., Caliebe, Almuth, Klopocki, Eva, Musso, Gabriel, Werdich, Andreas A., Kalwa, Hermann, Heinig, Matthias, Padera, Robert F., Wassilew, Katharina, Bluhm, Julia, Harnack, Christine, Martitz, Janine, Barton, Paul J., Greutmann, Matthias, Berger, Felix, Hubner, Norbert, Siebert, Reiner, Kramer, Hans-Heiner, Cook, Stuart A., MacRae, Calum A., Klaassen, Sabine

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Generation of two induced pluripotent stem cell lines UKWNLi006 and UKWNLi007 derived from two patients with an active site GLA mutation leading to a pain and no pain phenotype in... von Klug, Katharina, Breyer, Maximilian, Klopocki, Eva, Üçeyler, Nurcan

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Tissue-Nonspecific Alkaline Phosphatase-A Gatekeeper of Physiological Conditions in Health and a Modulator of Biological Environments in Disease von Liedtke, Daniel, Hofmann, Christine, Jakob, Franz, Klopocki, Eva, Graser, Stephanie

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Copy-Number Variations, Noncoding Sequences, and Human Phenotypes von Klopocki, Eva, Mundlos, Stefan

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Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome von Klopocki, Eva, Schulze, Harald, Strauß, Gabriele, Ott, Claus-Eric, Hall, Judith, Trotier, Fabienne, Fleischhauer, Silke, Greenhalgh, Lynn, Newbury-Ecob, Ruth A., Neumann, Luitgard M., Habenicht, Rolf, König, Rainer, Seemanova, Eva, Megarbane, André, Ropers, Hans-Hilger, Ullmann, Reinhard, Horn, Denise, Mundlos, Stefan

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Recessive grey platelet-like syndrome with unaffected erythropoiesis in the absence of the splice isoform GFI1B-p37 von Schulze, Harald, Schlagenhauf, Axel, Manukjan, Georgi, Beham-Schmid, Christine, Andres, Oliver, Klopocki, Eva, König, Eva-Maria, Haidl, Harald, Panzer, Simon, Althaus, Karina, Muntean, Wolfgang E, Schwinger, Wolfgang, Urban, Christian, Greinacher, Andreas, Bakchoul, Tamam, Seidel, Markus G

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Generation of a ST3GAL3 null mutant induced pluripotent stem cell (iPSC) line (UKWMPi002-A-3) by CRISPR/Cas9 genome editing von Diouf, David, Vitale, Maria Rosaria, Zöller, Johanna Eva Maria, Pineau, Ana-Magdalena, Klopocki, Eva, Hamann, Catharina, Ziegler, Georg Christoph, Vanmierlo, Tim, Van den Hove, Daniel, Lesch, Klaus-Peter

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Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome von Koparir, Asuman, Lekszas, Caroline, Keseroglu, Kemal, Rose, Thalia, Rappl, Lena, Rad, Aboulfazl, Maroofian, Reza, Narendran, Nakul, Hasanzadeh, Atefeh, Karimiani, Ehsan Ghayoor, Boschann, Felix, Kornak, Uwe, Klopocki, Eva, Özbudak, Ertuğrul M, Vona, Barbara, Haaf, Thomas, Liedtke, Daniel

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Generation of the human induced pluripotent stem cell line UKWNLi002-A from dermal fibroblasts of a woman with a heterozygous c.608 C>T (p.Thr203Met) mutation in exon 3 of the nerv... von Klein, Thomas, Henkel, Lisa, Klug, Katharina, Kwok, Chee Keong, Klopocki, Eva, Üçeyler, Nurcan

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Mutations in DNAJC19 cause altered mitochondrial structure and increased mitochondrial respiration in human iPSC-derived cardiomyocytes von Janz, Anna, Walz, Katharina, Cirnu, Alexandra, Surjanto, Jessica, Urlaub, Daniela, Leskien, Miriam, Kohlhaas, Michael, Nickel, Alexander, Brand, Theresa, Nose, Naoko, Wörsdörfer, Philipp, Wagner, Nicole, Higuchi, Takahiro, Maack, Christoph, Dudek, Jan, Lorenz, Kristina, Klopocki, Eva, Ergün, Süleyman, Duff, Henry J, Gerull, Brenda

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Generation of multiple human iPSC lines from peripheral blood mononuclear cells of two SLC2A3 deletion and two SLC2A3 duplication carriers von Ziegler, Georg C., Radtke, Franziska, Vitale, Maria Rosaria, Preuße, André, Klopocki, Eva, Herms, Stefan, Lesch, Klaus-Peter

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CRISPR/Cas9-edited PKP2 knock-out (JMUi001-A-2) and DSG2 knock-out (JMUi001-A-3) iPSC lines as an isogenic human model system for arrhythmogenic cardiomyopathy (ACM) von Janz, Anna, Zink, Miriam, Cirnu, Alexandra, Hartleb, Annika, Albrecht, Christina, Rost, Simone, Klopocki, Eva, Günther, Katharina, Edenhofer, Frank, Ergün, Süleyman, Gerull, Brenda

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Agenesis and dysgenesis of the corpus callosum: Clinical, genetic and neuroimaging findings in a series of 41 patients von Schell-Apacik, Chayim Can, Wagner, Kristina, Bihler, Moritz, Ertl-Wagner, Birgit, Heinrich, Uwe, Klopocki, Eva, Kalscheuer, Vera M., Muenke, Maximilian, von Voss, Hubertus

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Generation of two patient-derived iPSC lines from siblings (LIBUCi001-A and LIBUCi002-A) and a genetically modified iPSC line (JMUi001-A-1) to mimic dilated cardiomyopathy with ata... von Janz, Anna, Chen, Ruping, Regensburger, Martina, Ueda, Yuichiro, Rost, Simone, Klopocki, Eva, Günther, Katharina, Edenhofer, Frank, Duff, Henry J., Ergün, Süleyman, Gerull, Brenda

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