Diagnostic yield and clinical relevance of expanded germline genetic testing for nearly 7000 suspected HBOC patients

por Henkel, Jan, Laner, Andreas, Locher, Melanie, Wohlfrom, Tobias, Neitzel, Birgit, Becker, Kerstin, Neuhann, Teresa, Abicht, Angela, Steinke-Lange, Verena, Holinski-Feder, Elke
Publicado 2023

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

por Akimoto, Chizuru, Volk, Alexander E, van Blitterswijk, Marka, Van den Broeck, Marleen, Leblond, Claire S, Lumbroso, Serge, Camu, William, Neitzel, Birgit, Onodera, Osamu, van Rheenen, Wouter, Pinto, Susana, Weber, Markus, Smith, Bradley, Proven, Melanie, Talbot, Kevin, Keagle, Pamela, Chesi, Alessandra, Ratti, Antonia, van der Zee, Julie, Alstermark, Helena, Birve, Anna, Calini, Daniela, Nordin, Angelica, Tradowsky, Daniela C, Just, Walter, Daoud, Hussein, Angerbauer, Sabrina, DeJesus-Hernandez, Mariely, Konno, Takuya, Lloyd-Jani, Anjali, de Carvalho, Mamede, Mouzat, Kevin, Landers, John E, Veldink, Jan H, Silani, Vincenzo, Gitler, Aaron D, Shaw, Christopher E, Rouleau, Guy A, van den Berg, Leonard H, Van Broeckhoven, Christine, Rademakers, Rosa, Andersen, Peter M, Kubisch, Christian
Publicado 2014