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Journal Article

Hofmeister, Benedikt, von Stuelpnagel, Celina, Betzler, Cornelia, Mari, Francesca ORCID: 0000-0003-1992-1654, Renieri, Alessandra ORCID: 0000-0002-0846-9220, Baldassarri, Margherita, Haberlandt, Edda, Jansen, Katrien, Schilling, Stefan, Weber, Peter, Ahlbory, Katja, Tang, Shan, Berweck, Steffen and Kluger, Gerhard (2021). Epilepsy in Nicolaides-Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment Aspects. Neuropediatrics, 52 (2). S. 109 - 123. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-1899

Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Catucci, Irene, Colombo, Mara ORCID: 0000-0001-5465-354X, Caleca, Laura ORCID: 0000-0002-3381-7493, Mucaki, Eliseos, Bogliolo, Massimo ORCID: 0000-0001-8240-7784, Marin, Maria, Damiola, Francesca ORCID: 0000-0002-0238-1252, Bernard, Loris, Pensotti, Valeria, Volorio, Sara, Dall'Olio, Valentina, Meindl, Alfons, Bartram, Claus, Sutter, Christian, Surowy, Harald ORCID: 0000-0002-3595-9188, Sornin, Valerie, Dondon, Marie-Gabrielle ORCID: 0000-0001-6016-8524, Eon-Marchais, Severine, Stoppa-Lyonnet, Dominique, Andrieu, Nadine, Sinilnikova, Olga M., Mitchell, Gillian, James, Paul A., Thompson, Ella, Marchetti, Marina ORCID: 0000-0001-9036-960X, Verzeroli, Cristina, Tartari, Carmen, Capone, Gabriele Lorenzo, Putignano, Anna Laura, Genuardi, Maurizio ORCID: 0000-0002-7410-8351, Medici, Veronica, Marchi, Isabella, Federico, Massimo ORCID: 0000-0002-5074-3262, Tognazzo, Silvia ORCID: 0000-0002-6260-1261, Matricardi, Laura ORCID: 0000-0002-0241-1810, Agata, Simona, Dolcetti, Riccardo ORCID: 0000-0003-1625-9853, Della Puppa, Lara, Cini, Giulia ORCID: 0000-0002-8696-8922, Gismondi, Viviana, Viassolo, Valeria, Perfumo, Chiara, Mencarelli, Maria Antonietta, Baldassarri, Margherita, Peissel, Bernard ORCID: 0000-0001-9233-3571, Roversi, Gaia, Silvestri, Valentina ORCID: 0000-0003-0712-9379, Rizzolo, Piera ORCID: 0000-0002-3421-1485, Spina, Francesca, Vivanet, Caterina, Tibiletti, Maria Grazia, Caligo, Maria Adelaide, Gambino, Gaetana ORCID: 0000-0002-0671-0244, Tommasi, Stefania ORCID: 0000-0002-2157-2978, Pilato, Brunella, Tondini, Carlo, Corna, Chiara, Bonanni, Bernardo, Barile, Monica, Osorio, Ana ORCID: 0000-0001-8124-3984, Benitez, Javier, Balestrino, Luisa, Ottini, Laura, Manoukian, Siranoush, Pierotti, Marco A., Renieri, Alessandra ORCID: 0000-0002-0846-9220, Varesco, Liliana ORCID: 0000-0003-4871-6668, Couch, Fergus J., Wang, Xianshu, Devilee, Peter ORCID: 0000-0002-8023-2009, Hilbers, Florentine S., van Asperen, Christi J., Viel, Alessandra ORCID: 0000-0003-2804-0840, Montagna, Marco, Cortesi, Laura ORCID: 0000-0001-8950-8561, Diez, Orland, Balmana, Judith ORCID: 0000-0002-0762-6415, Hauke, Jan, Schmutzler, Rita K., Papi, Laura ORCID: 0000-0003-4552-9517, Angel Pujana, Miguel, Lazaro, Conxi, Falanga, Anna ORCID: 0000-0002-5007-3457, Offit, Kenneth, Vijai, Joseph, Campbell, Ian ORCID: 0000-0002-7773-4155, Burwinkel, Barbara, Kvist, Anders ORCID: 0000-0002-1358-0695, Ehrencrona, Hans ORCID: 0000-0002-5589-3622, Mazoyer, Sylvie ORCID: 0000-0002-2135-0160, Pizzamiglio, Sara ORCID: 0000-0002-7759-0550, Verderio, Paolo ORCID: 0000-0002-9231-1281, Surralles, Jordi ORCID: 0000-0002-4041-7519, Rogan, Peter K. and Radice, Paolo ORCID: 0000-0001-6298-4111 (2015). FANCM c.5791C > T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor. Hum. Mol. Genet., 24 (18). S. 5345 - 5356. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Boegershausen, Nina, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Steiner-Haldenstaett, Sabine, Pohl, Esther, Li, Yun, Milz, Esther, Martin, Marcel ORCID: 0000-0002-0680-200X, Thiele, Holger, Altmueller, Janine, Alanay, Yasemin ORCID: 0000-0003-0683-9731, Kayserili, Hulya ORCID: 0000-0003-0376-499X, Klein-Hitpass, Ludger, Bohringer, Stefan, Wollstein, Andreas, Albrecht, Beate, Boduroglu, Koray ORCID: 0000-0001-6260-1942, Caliebe, Almuth ORCID: 0000-0003-2157-425X, Chrzanowska, Krystyna ORCID: 0000-0003-3888-0624, Cogulu, Ozgur, Cristofoli, Francesca, Czeschik, Johanna Christina ORCID: 0000-0002-9254-0084, Devriendt, Koenraad, Dotti, Maria Teresa, Elcioglu, Nursel, Gener, Blanca, Goecke, Timm O., Krajewska-Walasek, Malgorzata ORCID: 0000-0001-8721-210X, Guillen-Navarro, Encarnacion, Hayek, Joussef, Houge, Gunnar, Kilic, Esra, Simsek-Kiper, Pelin Ozlem, Lopez-Gonzalez, Vanesa, Kuechler, Alma, Lyonnet, Stanislas ORCID: 0000-0001-5426-9417, Mari, Francesca ORCID: 0000-0003-1992-1654, Marozza, Annabella, Dramard, Michele Mathieu, Mikat, Barbara, Morin, Gilles, Morice-Picard, Fanny, Ozkinay, Ferda, Rauch, Anita ORCID: 0000-0003-2930-3163, Renieri, Alessandra ORCID: 0000-0002-0846-9220, Tinschert, Sigrid, Utine, G. Eda, Vilain, Catheline, Vivarelli, Rossella, Zweier, Christiane ORCID: 0000-0001-8002-2020, Nuernberg, Peter, Rahmann, Sven, Vermeesch, Joris, Luedecke, Hermann-Josef, Zeschnigk, Michael and Wollnik, Bernd (2013). A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum. Mol. Genet., 22 (25). S. 5121 - 5136. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

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