Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing

Por Chen, Wei, Ullmann, Reinhard, Langnick, Claudia, Menzel, Corinna, Wotschofsky, Zofia, Hu, Hao, Döring, Andreas, Hu, Yuhui, Kang, Hui, Tzschach, Andreas, Hoeltzenbein, Maria, Neitzel, Heidemarie, Markus, Susanne, Wiedersberg, Eberhard, Kistner, Gerd, van Ravenswaaij-Arts, Conny MA, Kleefstra, Tjitske, Kalscheuer, Vera M, Ropers, Hans-Hilger
Publicado em 2010

Next‐generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read...

Por Neuhaus, Christine, Eisenberger, Tobias, Decker, Christian, Nagl, Sandra, Blank, Cornelia, Pfister, Markus, Kennerknecht, Ingo, Müller‐Hofstede, Cornelie, Charbel Issa, Peter, Heller, Raoul, Beck, Bodo, Rüther, Klaus, Mitter, Diana, Rohrschneider, Klaus, Steinhauer, Ute, Korbmacher, Heike M., Huhle, Dagmar, Elsayed, Solaf M., Taha, Hesham M., Baig, Shahid M., Stöhr, Heidi, Preising, Markus, Markus, Susanne, Moeller, Fabian, Lorenz, Birgit, Nagel‐Wolfrum, Kerstin, Khan, Arif O., Bolz, Hanno J.
Publicado no Mol Genet Genomic Med (2017)