Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment

por Beygo, Jasmin, Bürger, Joachim, Strom, Tim M., Kaya, Sabine, Buiting, Karin
Publicado en Eur J Hum Genet (2019)

Common genetic variation in the Angelman syndrome imprinting centre affects the imprinting of chromosome 15

por Beygo, Jasmin, Grosser, Christian, Kaya, Sabine, Mertel, Claudia, Buiting, Karin, Horsthemke, Bernhard
Publicado en Eur J Hum Genet (2020)

The Origin of the RB1 Imprint

por Kanber, Deniz, Buiting, Karin, Roos, Christian, Gromoll, Jörg, Kaya, Sabine, Horsthemke, Bernhard, Lohmann, Dietmar
Publicado 2013

The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders

por Beygo, Jasmin, Mertel, Claudia, Kaya, Sabine, Gillessen-Kaesbach, Gabriele, Eggermann, Thomas, Horsthemke, Bernhard, Buiting, Karin
Publicado en Epigenetics (2018)

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

por Florian, Rahel T., Kraft, Florian, Leitão, Elsa, Kaya, Sabine, Klebe, Stephan, Magnin, Eloi, van Rootselaar, Anne-Fleur, Buratti, Julien, Kühnel, Theresa, Schröder, Christopher, Giesselmann, Sebastian, Tschernoster, Nikolai, Altmueller, Janine, Lamiral, Anaide, Keren, Boris, Nava, Caroline, Bouteiller, Delphine, Forlani, Sylvie, Jornea, Ludmila, Kubica, Regina, Ye, Tao, Plassard, Damien, Jost, Bernard, Meyer, Vincent, Deleuze, Jean-François, Delpu, Yannick, Avarello, Mario D. M., Vijfhuizen, Lisanne S., Rudolf, Gabrielle, Hirsch, Edouard, Kroes, Thessa, Reif, Philipp S., Rosenow, Felix, Ganos, Christos, Vidailhet, Marie, Thivard, Lionel, Mathieu, Alexandre, Bourgeron, Thomas, Kurth, Ingo, Rafehi, Haloom, Steenpass, Laura, Horsthemke, Bernhard, LeGuern, Eric, Klein, Karl Martin, Labauge, Pierre, Bennett, Mark F., Bahlo, Melanie, Gecz, Jozef, Corbett, Mark A., Tijssen, Marina A. J., van den Maagdenberg, Arn M. J. M., Depienne, Christel
Publicado en Nat Commun (2019)

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

por Corbett, Mark A., Kroes, Thessa, Veneziano, Liana, Bennett, Mark F., Florian, Rahel, Schneider, Amy L., Coppola, Antonietta, Licchetta, Laura, Franceschetti, Silvana, Suppa, Antonio, Wenger, Aaron, Mei, Davide, Pendziwiat, Manuela, Kaya, Sabine, Delledonne, Massimo, Straussberg, Rachel, Xumerle, Luciano, Regan, Brigid, Crompton, Douglas, van Rootselaar, Anne-Fleur, Correll, Anthony, Catford, Rachael, Bisulli, Francesca, Chakraborty, Shreyasee, Baldassari, Sara, Tinuper, Paolo, Barton, Kirston, Carswell, Shaun, Smith, Martin, Berardelli, Alfredo, Carroll, Renee, Gardner, Alison, Friend, Kathryn L., Blatt, Ilan, Iacomino, Michele, Di Bonaventura, Carlo, Striano, Salvatore, Buratti, Julien, Keren, Boris, Nava, Caroline, Forlani, Sylvie, Rudolf, Gabrielle, Hirsch, Edouard, Leguern, Eric, Labauge, Pierre, Balestrini, Simona, Sander, Josemir W., Afawi, Zaid, Helbig, Ingo, Ishiura, Hiroyuki, Tsuji, Shoji, Sisodiya, Sanjay M., Casari, Giorgio, Sadleir, Lynette G., van Coller, Riaan, Tijssen, Marina A. J., Klein, Karl Martin, van den Maagdenberg, Arn M. J. M., Zara, Federico, Guerrini, Renzo, Berkovic, Samuel F., Pippucci, Tommaso, Canafoglia, Laura, Bahlo, Melanie, Striano, Pasquale, Scheffer, Ingrid E., Brancati, Francesco, Depienne, Christel, Gecz, Jozef
Publicado en Nat Commun (2019)