Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement von Kline, Antonie D., Moss, Joanna F., Selicorni, Angelo, Bisgaard, Anne-Marie, Deardorff, Matthew A., Gillett, Peter M., Ishman, Stacey L., Kerr, Lynne M., Levin, Alex V., Mulder, Paul A., Ramos, Feliciano J., Wierzba, Jolanta, Ajmone, Paola Francesca, Axtell, David, Blagowidow, Natalie, Cereda, Anna, Costantino, Antonella, Cormier-Daire, Valerie, FitzPatrick, David, Grados, Marco, Groves, Laura, Guthrie, Whitney, Huisman, Sylvia, Kaiser, Frank J., Koekkoek, Gerritjan, Levis, Mary, Mariani, Milena, McCleery, Joseph P., Menke, Leonie A., Metrena, Amy, O’Connor, Julia, Oliver, Chris, Pie, Juan, Piening, Sigrid, Potter, Carol J., Quaglio, Ana L., Redeker, Egbert, Richman, David, Rigamonti, Claudia, Shi, Angell, Tümer, Zeynep, Van Balkom, Ingrid D. C., Hennekam, Raoul C.

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Coronary heart disease-associated variation in TCF21 disrupts a miR-224 binding site and miRNA-mediated regulation von Miller, Clint L, Haas, Ulrike, Diaz, Roxanne, Leeper, Nicholas J, Kundu, Ramendra K, Patlolla, Bhagat, Assimes, Themistocles L, Kaiser, Frank J, Perisic, Ljubica, Hedin, Ulf, Maegdefessel, Lars, Schunkert, Heribert, Erdmann, Jeanette, Quertermous, Thomas, Sczakiel, Georg

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Cornelia de Lange Syndrome as Paradigm of Chromatinopathies von Parenti, Ilaria, Kaiser, Frank J.

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RAD21 Mutations Cause a Human Cohesinopathy von Deardorff, Matthew A., Wilde, Jonathan J., Albrecht, Melanie, Dickinson, Emma, Tennstedt, Stephanie, Braunholz, Diana, Mönnich, Maren, Yan, Yuqian, Xu, Weizhen, Gil-Rodríguez, María Concepcion, Clark, Dinah, Hakonarson, Hakon, Halbach, Sara, Michelis, Laura Daniela, Rampuria, Abhinav, Rossier, Eva, Spranger, Stephanie, Van Maldergem, Lionel, Lynch, Sally Ann, Gillessen-Kaesbach, Gabriele, Lüdecke, Hermann-Josef, Ramsay, Robert G., McKay, Michael J., Krantz, Ian D., Xu, Huiling, Horsfield, Julia A., Kaiser, Frank J.

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Bacterial modulators of bone remodeling in the periodontal pocket von Henderson, Brian, Kaiser, Frank

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Gene regulation and chromatin organization: relevance of cohesin mutations to human disease von Watrin, Erwan, Kaiser, Frank J, Wendt, Kerstin S

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TRα2—An Untuned Second Fiddle or Fine-Tuning Thyroid Hormone Action? von Hönes, Georg Sebastian, Härting, Nina, Mittag, Jens, Kaiser, Frank J.

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A hexanucleotide repeat modifies expressivity of X‐linked dystonia parkinsonism von Westenberger, Ana, Reyes, Charles Jourdan, Saranza, Gerard, Dobricic, Valerija, Hanssen, Henrike, Domingo, Aloysius, Laabs, Björn‐Hergen, Schaake, Susen, Pozojevic, Jelena, Rakovic, Aleksandar, Grütz, Karen, Begemann, Kimberly, Walter, Uwe, Dressler, Dirk, Bauer, Peter, Rolfs, Arndt, Münchau, Alexander, Kaiser, Frank J., Ozelius, Laurie J., Jamora, Roland Dominic, Rosales, Raymond L., Diesta, Cid Czarina E., Lohmann, Katja, König, Inke R., Brüggemann, Norbert, Klein, Christine

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Chromatinopathies: A focus on Cornelia de Lange syndrome von Avagliano, Laura, Parenti, Ilaria, Grazioli, Paolo, Di Fede, Elisabetta, Parodi, Chiara, Mariani, Milena, Kaiser, Frank J., Selicorni, Angelo, Gervasini, Cristina, Massa, Valentina

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Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism von Laabs, Björn-Hergen, Klein, Christine, Pozojevic, Jelena, Domingo, Aloysius, Brüggemann, Norbert, Grütz, Karen, Rosales, Raymond L., Jamora, Roland Dominic, Saranza, Gerard, Diesta, Cid Czarina E., Wittig, Michael, Schaake, Susen, Dulovic-Mahlow, Marija, Quismundo, Jana, Otto, Pia, Acuna, Patrick, Go, Criscely, Sharma, Nutan, Multhaupt-Buell, Trisha, Müller, Ulrich, Hanssen, Henrike, Kilpert, Fabian, Franke, Andre, Rolfs, Arndt, Bauer, Peter, Dobričić, Valerija, Lohmann, Katja, Ozelius, Laurie J., Kaiser, Frank J., König, Inke R., Westenberger, Ana

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Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X von Leitão, Elsa, Schröder, Christopher, Parenti, Ilaria, Dalle, Carine, Rastetter, Agnès, Kühnel, Theresa, Kuechler, Alma, Kaya, Sabine, Gérard, Bénédicte, Schaefer, Elise, Nava, Caroline, Drouot, Nathalie, Engel, Camille, Piard, Juliette, Duban-Bedu, Bénédicte, Villard, Laurent, Stegmann, Alexander P. A., Vanhoutte, Els K., Verdonschot, Job A. J., Kaiser, Frank J., Tran Mau-Them, Frédéric, Scala, Marcello, Striano, Pasquale, Frints, Suzanna G. M., Argilli, Emanuela, Sherr, Elliott H., Elder, Fikret, Buratti, Julien, Keren, Boris, Mignot, Cyril, Héron, Delphine, Mandel, Jean-Louis, Gecz, Jozef, Kalscheuer, Vera M., Horsthemke, Bernhard, Piton, Amélie, Depienne, Christel

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MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome von Parenti, Ilaria, Diab, Farah, Gil, Sara Ruiz, Mulugeta, Eskeatnaf, Casa, Valentina, Berutti, Riccardo, Brouwer, Rutger W.W., Dupé, Valerie, Eckhold, Juliane, Graf, Elisabeth, Puisac, Beatriz, Ramos, Feliciano, Schwarzmayr, Thomas, Gines, Macarena Moronta, van Staveren, Thomas, van IJcken, Wilfred F.J., Strom, Tim M., Pié, Juan, Watrin, Erwan, Kaiser, Frank J., Wendt, Kerstin S.

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Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene von Lohmann, Katja, Wilcox, Robert A., Winkler, Susen, Ramirez, Alfredo, Rakovic, Aleksandar, Park, Jin-Sung, Arns, Björn, Lohnau, Thora, Groen, Justus, Kasten, Meike, Brüggemann, Norbert, Hagenah, Johann, Schmidt, Alexander, Kaiser, Frank J., Kumar, Kishore R., Zschiedrich, Katja, Alvarez-Fischer, Daniel, Altenmüller, Eckart, Ferbert, Andreas, Lang, Anthony E., Münchau, Alexander, Kostic, Vladimir, Simonyan, Kristina, Agzarian, Marc, Ozelius, Laurie J., Langeveld, Antonius P. M., Sue, Carolyn M., Tijssen, Marina A. J., Klein, Christine

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Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions von Mohren, Lars, Erdlenbruch, Friedrich, Leitão, Elsa, Kilpert, Fabian, Hönes, G. Sebastian, Kaya, Sabine, Schröder, Christopher, Thieme, Andreas, Sturm, Marc, Park, Joohyun, Schlüter, Agatha, Ruiz, Montserrat, Morales de la Prida, Moisés, Casasnovas, Carlos, Becker, Kerstin, Roggenbuck, Ulla, Pechlivanis, Sonali, Kaiser, Frank J., Synofzik, Matthis, Wirth, Thomas, Anheim, Mathieu, Haack, Tobias B., Lockhart, Paul J., Jöckel, Karl-Heinz, Pujol, Aurora, Klebe, Stephan, Timmann, Dagmar, Depienne, Christel

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Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology von Kargapolova, Yulia, Rehimi, Rizwan, Kayserili, Hülya, Brühl, Joanna, Sofiadis, Konstantinos, Zirkel, Anne, Palikyras, Spiros, Mizi, Athanasia, Li, Yun, Yigit, Gökhan, Hoischen, Alexander, Frank, Stefan, Russ, Nicole, Trautwein, Jonathan, van Bon, Bregje, Gilissen, Christian, Laugsch, Magdalena, Gusmao, Eduardo Gade, Josipovic, Natasa, Altmüller, Janine, Nürnberg, Peter, Längst, Gernot, Kaiser, Frank J., Watrin, Erwan, Brunner, Han, Rada-Iglesias, Alvaro, Kurian, Leo, Wollnik, Bernd, Bouazoune, Karim, Papantonis, Argyris

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Evidence for correlations between BMI-associated SNPs and circRNAs von Rajcsanyi, Luisa Sophie, Diebels, Inga, Pastoors, Lydia, Kanber, Deniz, Peters, Triinu, Volckmar, Anna-Lena, Zheng, Yiran, Grosse, Martin, Dieterich, Christoph, Hebebrand, Johannes, Kaiser, Frank J., Horsthemke, Bernhard, Hinney, Anke

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HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle von Deardorff, Matthew A., Bando, Masashige, Nakato, Ryuichiro, Watrin, Erwan, Itoh, Takehiko, Minamino, Masashi, Saitoh, Katsuya, Komata, Makiko, Katou, Yuki, Clark, Dinah, Cole, Kathryn E., De Baere, Elfride, Decroos, Christophe, Di Donato, Nataliya, Ernst, Sarah, Francey, Lauren J., Gyftodimou, Yolanda, Hirashima, Kyotaro, Hullings, Melanie, Ishikawa, Yuuichi, Jaulin, Christian, Kaur, Maninder, Kiyono, Tohru, Lombardi, Patrick M., Magnaghi-Jaulin, Laura, Mortier, Geert R., Nozaki, Naohito, Petersen, Michael B., Seimiya, Hiroyuki, Siu, Victoria M., Suzuki, Yutaka, Takagaki, Kentaro, Wilde, Jonathan J., Willems, Patrick J., Prigent, Claude, Gillessen-Kaesbach, Gabriele, Christianson, David W., Kaiser, Frank J., Jackson, Laird G., Hirota, Toru, Krantz, Ian D., Shirahige, Katsuhiko

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Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes von Latorre-Pellicer, Ana, Ascaso, Ángela, Trujillano, Laura, Gil-Salvador, Marta, Arnedo, Maria, Lucia-Campos, Cristina, Antoñanzas-Pérez, Rebeca, Marcos-Alcalde, Iñigo, Parenti, Ilaria, Bueno-Lozano, Gloria, Musio, Antonio, Puisac, Beatriz, Kaiser, Frank J, Ramos, Feliciano J, Gómez-Puertas, Paulino, Pié, Juan

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Functional Characterization of the GUCY1A3 Coronary Artery Disease Risk Locus von Kessler, Thorsten, Wobst, Jana, Wolf, Bernhard, Eckhold, Juliane, Vilne, Baiba, Hollstein, Ronja, von Ameln, Simon, Dang, Tan An, Sager, Hendrik B, Moritz Rumpf, Philipp, Aherrahrou, Redouane, Kastrati, Adnan, Björkegren, Johan L.M, Erdmann, Jeanette, Lusis, Aldons J, Civelek, Mete, Kaiser, Frank J, Schunkert, Heribert

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Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes von Parenti, Ilaria, Teresa-Rodrigo, María E., Pozojevic, Jelena, Ruiz Gil, Sara, Bader, Ingrid, Braunholz, Diana, Bramswig, Nuria C., Gervasini, Cristina, Larizza, Lidia, Pfeiffer, Lutz, Ozkinay, Ferda, Ramos, Feliciano, Reiz, Benedikt, Rittinger, Olaf, Strom, Tim M., Watrin, Erwan, Wendt, Kerstin, Wieczorek, Dagmar, Wollnik, Bernd, Baquero-Montoya, Carolina, Pié, Juan, Deardorff, Matthew A., Gillessen-Kaesbach, Gabriele, Kaiser, Frank J.

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