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

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Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood von Latorre-Pellicer, Ana, Gil-Salvador, Marta, Parenti, Ilaria, Lucia-Campos, Cristina, Trujillano, Laura, Marcos-Alcalde, Iñigo, Arnedo, María, Ascaso, Ángela, Ayerza-Casas, Ariadna, Antoñanzas-Pérez, Rebeca, Gervasini, Cristina, Piccione, Maria, Mariani, Milena, Weber, Axel, Kanber, Deniz, Kuechler, Alma, Munteanu, Martin, Khuller, Katharina, Bueno-Lozano, Gloria, Puisac, Beatriz, Gómez-Puertas, Paulino, Selicorni, Angelo, Kaiser, Frank J., Ramos, Feliciano J., Pié, Juan

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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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Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes von Latorre-Pellicer, Ana, Ascaso, Angela, Trujillano, Laura, Gil-Salvador, Marta, Arnedo, Maria, Lucia-Campos, Cristina, Antonanzas-Perez, Rebeca, Marcos-Alcalde, Inigo, Parenti, Ilaria, Bueno-Lozano, Gloria, Musio, Antonio, Puisac, Beatriz, Kaiser, Frank J., Ramos, Feliciano J., Gomez-Puertas, Paulino, Pie, Juan

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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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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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An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype von Lucia-Campos, Cristina, Parenti, Ilaria, Latorre-Pellicer, Ana, Gil-Salvador, Marta, Bestetti, Ilaria, Finelli, Palma, Larizza, Lidia, Arnedo, María, Ayerza-Casas, Ariadna, Del Rincón, Julia, Trujillano, Laura, Morte, Beatriz, Pérez-Jurado, Luis A., Lapunzina, Pablo, Leitão, Elsa, Beygo, Jasmin, Lich, Christina, Kilpert, Fabian, Kaya, Sabine, Depienne, Christel, Kaiser, Frank J., Ramos, Feliciano J., Puisac, Beatriz, Pié, Juan

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Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer element von Zuin, Jessica, Casa, Valentina, Pozojevic, Jelena, Kolovos, Petros, van den Hout, Mirjam C G N, van Ijcken, Wilfred F J, Parenti, Ilaria, Braunholz, Diana, Baron, Yorann, Watrin, Erwan, Kaiser, Frank J, Wendt, Kerstin S

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Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome von Ascaso, Ángela, Latorre-Pellicer, Ana, Puisac, Beatriz, Trujillano, Laura, Arnedo, María, Parenti, Ilaria, Llorente, Elena, Puente-Lanzarote, Juan José, Matute-Llorente, Ángel, Ayerza-Casas, Ariadna, Kaiser, Frank J, Ramos, Feliciano J, Pié, Juan, Bueno-Lozano, Gloria

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Assessment of Quality of Life Using the Kidslife Scale in Individuals With Cornelia de Lange Syndrome von Trujillano, Laura, Ayerza-Casas, Ariadna, Puisac, Beatriz, Latorre-Pellicer, Ana, Arnedo, María, Lucia-Campos, Cristina, Gil-Salvador, Marta, Parenti, Ilaria, Kaiser, Frank J, Ramos, Feliciano J, Trujillano, Javier, Pié, Juan

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Neurodevelopmental Disorders: From Genetics to Functional Pathways von Parenti, Ilaria, Rabaneda, Luis G., Schoen, Hanna, Novarino, Gaia

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Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy von Azzollini, Jacopo, Rovina, Davide, Gervasini, Cristina, Parenti, Ilaria, Fratoni, Alessia, Cubellis, Maria Vittoria, Cerri, Amilcare, Pietrogrande, Luca, Larizza, Lidia

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Mosaic Intronic NIPBL Variant in a Family With Cornelia de Lange Syndrome von Krawczynska, Natalia, Kuzniacka, Alina, Wierzba, Jolanta, Parenti, Ilaria, Kaiser, Frank J, Wasag, Bartosz

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Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles von Haghshenas, Sadegheh, Bout, Hidde J., Schijns, Josephine M., Levy, Michael A., Kerkhof, Jennifer, Bhai, Pratibha, McConkey, Haley, Jenkins, Zandra A., Williams, Ella M., Halliday, Benjamin J., Huisman, Sylvia A., Lauffer, Peter, de Waard, Vivian, Witteveen, Laura, Banka, Siddharth, Brady, Angela F., Galazzi, Elena, van Gils, Julien, Hurst, Anna C.E., Kaiser, Frank J., Lacombe, Didier, Martinez-Monseny, Antonio F., Fergelot, Patricia, Monteiro, Fabíola P., Parenti, Ilaria, Persani, Luca, Santos-Simarro, Fernando, Simpson, Brittany N., Alders, Mariëlle, Robertson, Stephen P., Sadikovic, Bekim, Menke, Leonie A.

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PHIP -associated Chung-Jansen syndrome: Report of 23 new individuals von Kampmeier, Antje, Leitão, Elsa, Parenti, Ilaria, Beygo, Jasmin, Depienne, Christel, Bramswig, Nuria C, Hsieh, Tzung-Chien, Afenjar, Alexandra, Beck-Wödl, Stefanie, Grasshoff, Ute, Haack, Tobias B, Bijlsma, Emilia K, Ruivenkamp, Claudia, Lausberg, Eva, Elbracht, Miriam, Haanpää, Maria K, Koillinen, Hannele, Heinrich, Uwe, Rost, Imma, Jamra, Rami Abou, Popp, Denny, Koch-Hogrebe, Margarete, Rostasy, Kevin, López-González, Vanesa, Sanchez-Soler, María José, Macedo, Catarina, Schmetz, Ariane, Steinborn, Carmen, Weidensee, Sabine, Lesmann, Hellen, Marbach, Felix, Caro, Pilar, Schaaf, Christian P, Krawitz, Peter, Wieczorek, Dagmar, Kaiser, Frank J, Kuechler, Alma

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Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics von Braunholz, Diana, Obieglo, Carolin, Parenti, Ilaria, Pozojevic, Jelena, Eckhold, Juliane, Reiz, Benedikt, Brænne, Ingrid, Wendt, Kerstin S., Watrin, Erwan, Vodopiutz, Julia, Rieder, Harald, Gillessen-Kaesbach, Gabriele, Kaiser, Frank J.

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Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy von Parenti, Ilaria, Lehalle, Daphné, Nava, Caroline, Torti, Erin, Undiagnosed Diseases Network, Friedman, Jennifer, Joset, Pascal, Steindl, Katharina, Rauch, Anita

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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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Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype von Parenti, I., Gervasini, C., Pozojevic, J., Graul-Neumann, L., Azzollini, J., Braunholz, D., Watrin, E., Wendt, K.S., Cereda, A., Cittaro, D., Gillessen-Kaesbach, G., Lazarevic, D., Mariani, M., Russo, S., Werner, R., Krawitz, P., Larizza, L., Selicorni, A., Kaiser, F.J.

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Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases von Symonds, Joseph D., Joss, Shelagh, Metcalfe, Kay A., Somarathi, Suresh, Cruden, Jamie, Devlin, Anita M., Donaldson, Alan, DiDonato, Nataliya, Fitzpatrick, David, Kaiser, Frank J., Lampe, Anne K., Lees, Melissa M., McLellan, Ailsa, Montgomery, Tara, Mundada, Vivek, Nairn, Lesley, Sarkar, Ajoy, Schallner, Jens, Pozojevic, Jelena, Parenti, Ilaria, Tan, Jeen, Turnpenny, Peter, Whitehouse, William P., Zuberi, Sameer M.

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