Trace2PS and FSA2PS: two software toolkits for converting trace and fsa files to PostScript format

por Krawczyk, Justina, Goesmann, Alexander, Nolte, Ralf, Werber, Martin, Weisshaar, Bernd
Publicado 2009

The Saccharomyces cerevisiae W303-K6001 cross-platform genome sequence: insights into ancestry and physiology of a laboratory mutt

por Ralser, Markus, Kuhl, Heiner, Ralser, Meryem, Werber, Martin, Lehrach, Hans, Breitenbach, Michael, Timmermann, Bernd
Publicado 2012

Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders

por Trinh, Joanne, Kandaswamy, Krishna Kumar, Werber, Martin, Weiss, Maximilian E. R., Oprea, Gabriela, Kishore, Shivendra, Lohmann, Katja, Rolfs, Arndt
Publicado 2019

Using the canary genome to decipher the evolution of hormone-sensitive gene regulation in seasonal singing birds

por Frankl-Vilches, Carolina, Kuhl, Heiner, Werber, Martin, Klages, Sven, Kerick, Martin, Bakker, Antje, de Oliveira, Edivaldo HC, Reusch, Christina, Capuano, Floriana, Vowinckel, Jakob, Leitner, Stefan, Ralser, Markus, Timmermann, Bernd, Gahr, Manfred
Publicado 2015

Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population

por Bauer, Peter, Kandaswamy, Krishna Kumar, Weiss, Maximilian E. R., Paknia, Omid, Werber, Martin, Bertoli-Avella, Aida M., Yüksel, Zafer, Bochinska, Malgorzata, Oprea, Gabriela E., Kishore, Shivendra, Weckesser, Volkmar, Karges, Ellen, Rolfs, Arndt
Publicado 2018

Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR

por Trujillano, Daniel, Weiss, Maximilian E R, Köster, Julia, Papachristos, Efstathios B, Werber, Martin, Kandaswamy, Krishna Kumar, Marais, Anett, Eichler, Sabrina, Creed, Jenny, Baysal, Erol, Jaber, Iqbal Yousuf, Mehaney, Dina Ahmed, Farra, Chantal, Rolfs, Arndt
Publicado 2015

Somatic Mutation Profiles of MSI and MSS Colorectal Cancer Identified by Whole Exome Next Generation Sequencing and Bioinformatics Analysis

por Timmermann, Bernd, Kerick, Martin, Roehr, Christina, Fischer, Axel, Isau, Melanie, Boerno, Stefan T., Wunderlich, Andrea, Barmeyer, Christian, Seemann, Petra, Koenig, Jana, Lappe, Michael, Kuss, Andreas W., Garshasbi, Masoud, Bertram, Lars, Trappe, Kathrin, Werber, Martin, Herrmann, Bernhard G., Zatloukal, Kurt, Lehrach, Hans, Schweiger, Michal R.
Publicado 2010

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

por Trujillano, Daniel, Bertoli-Avella, Aida M, Kumar Kandaswamy, Krishna, Weiss, Maximilian ER, Köster, Julia, Marais, Anett, Paknia, Omid, Schröder, Rolf, Garcia-Aznar, Jose Maria, Werber, Martin, Brandau, Oliver, Calvo del Castillo, Maria, Baldi, Caterina, Wessel, Karen, Kishore, Shivendra, Nahavandi, Nahid, Eyaid, Wafaa, Al Rifai, Muhammad Talal, Al-Rumayyan, Ahmed, Al-Twaijri, Waleed, Alothaim, Ali, Alhashem, Amal, Al-Sannaa, Nouriya, Al-Balwi, Mohammed, Alfadhel, Majid, Rolfs, Arndt, Abou Jamra, Rami
Publicado 2017

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

por Bertoli-Avella, Aida M., Beetz, Christian, Ameziane, Najim, Rocha, Maria Eugenia, Guatibonza, Pilar, Pereira, Catarina, Calvo, Maria, Herrera-Ordonez, Natalia, Segura-Castel, Monica, Diego-Alvarez, Dan, Zawada, Michal, Kandaswamy, Krishna K., Werber, Martin, Paknia, Omid, Zielske, Susan, Ugrinovski, Dimitar, Warnack, Gitte, Kampe, Kapil, Iurașcu, Marius-Ionuț, Cozma, Claudia, Vogel, Florian, Alhashem, Amal, Hertecant, Jozef, Al-Shamsi, Aisha M., Alswaid, Abdulrahman Faiz, Eyaid, Wafaa, Al Mutairi, Fuad, Alfares, Ahmed, Albalwi, Mohammed A., Alfadhel, Majid, Al-Sannaa, Nouriya Abbas, Reardon, Willie, Alanay, Yasemin, Rolfs, Arndt, Bauer, Peter
Publicado 2020