Universität zu Köln

Journal Article

Angastiniotis, Michael and Lobitz, Stephan ORCID: 0000-0001-5398-0610 (2019). Thalassemias: An Overview. Int. J. Neonatal Screen., 5 (1). BASEL: MDPI. ISSN 2409-515X

Cario, Holger ORCID: 0000-0002-6923-488X and Lobitz, Stephan ORCID: 0000-0001-5398-0610 (2019). What's new in diagnostics and treatment of hemoglobinopathies? Dtsch. Med. Wochenschr., 144 (11). S. 719 - 724. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-4413

Daniel, Yvonne, Elion, Jacques ORCID: 0000-0002-8407-1783, Allaf, Bichr, Badens, Catherine, Bouva, Marelle J., Brincat, Ian, Cela, Elena, Coppinger, Cathy, de Montalembert, Mariane, Gulbis, Beatrice, Henthorn, Joan, Ketelslegers, Olivier, McMahon, Corrina, Streetly, Allison, Colombatti, Raffaella and Lobitz, Stephan ORCID: 0000-0001-5398-0610 (2019). Newborn Screening for Sickle Cell Disease in Europe. Int. J. Neonatal Screen., 5 (1). BASEL: MDPI. ISSN 2409-515X

Gallon, Richard ORCID: 0000-0002-5395-0099, Muehlegger, Barbara, Wenzel, Soeren-Sebastian, Sheth, Harsh, Hayes, Christine, Aretz, Stefan ORCID: 0000-0002-5228-1890, Dahan, Karin, Foulkes, William, Kratz, Christian P., Ripperger, Tim, Azizi, Amedeo A., Feldman, Hagit Baris, Chong, Anne-Laure, Demirsoy, Ugur, Florkin, Benoit, Imschweiler, Thomas, Januszkiewicz-Lewandowska, Danuta ORCID: 0000-0003-2332-2750, Lobitz, Stephan ORCID: 0000-0001-5398-0610, Nathrath, Michaela, Pander, Hans-Juergen, Perez-Alonso, Vanesa, Perne, Claudia, Ragab, Iman, Rosenbaum, Thorsten, Rueda, Daniel ORCID: 0000-0002-5377-8890, Seidel, Markus G. ORCID: 0000-0003-0981-8661, Suerink, Manon, Taeubner, Julia, Zimmermann, Stefanie-Yvonne, Zschocke, Johannes, Borthwick, Gillian M., Burn, John, Jackson, Michael S., Santibanez-Koref, Mauro and Wimmer, Katharina (2019). A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes. Hum. Mutat., 40 (5). S. 649 - 656. HOBOKEN: WILEY. ISSN 1098-1004

Gonzalez-Acosta, Maribel ORCID: 0000-0002-2468-3876, Marin, Fatima ORCID: 0000-0003-3534-0091, Puliafito, Benjamin, Bonifaci, Nuria, Fernandez, Anna, Navarro, Matilde, Salvador, Hector ORCID: 0000-0002-2515-0019, Balaguer, Francesc, Iglesias, Silvia, Velasco, Angela, Garces, Elia Grau, Moreno, Victor ORCID: 0000-0002-2818-5487, Gonzalez-Granado, Luis Ignacio ORCID: 0000-0001-6917-8980, Guerra-Garcia, Pilar ORCID: 0000-0002-7740-0614, Ayala, Rosa, Florkin, Benoit, Kratz, Christian, Ripperger, Tim, Rosenbaum, Thorsten, Januszkiewicz-Lewandowska, Danuta, Azizi, Amedeo A., Ragab, Iman, Nathrath, Michaela, Pander, Hans-Juergen, Lobitz, Stephan, Suerink, Manon, Dahan, Karin, Imschweiler, Thomas, Demirsoy, Ugur, Brunet, Joan ORCID: 0000-0003-1945-3512, Lazaro, Conxi, Rueda, Daniel ORCID: 0000-0002-5377-8890, Wimmer, Katharina, Capella, Gabriel and Pineda, Marta (2020). High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers. J. Med. Genet., 57 (4). S. 269 - 274. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

Kunz, Joachim B., Lobitz, Stephan ORCID: 0000-0001-5398-0610, Grosse, Regine, Oevermann, Lena, Hakimeh, Dani, Jarisch, Andrea, Cario, Holger ORCID: 0000-0002-6923-488X, Beier, Rita, Schenk, Daniela, Schneider, Dominik, Gross-Wieltsch, Ute, Prokop, Aram, Heine, Sabine, Khurana, Claudia, Erlacher, Miriam, Duerken, Matthias, Linke, Christina, Fruehwald, Michael, Corbacioglu, Selim, Claviez, Alexander, Metzler, Markus, Ebinger, Martin ORCID: 0000-0002-4229-8058, Full, Hermann, Wiesel, Thomas, Eberl, Wolfgang, Reinhard, Harald, Tagliaferri, Laura, Allard, Pierre, Karapanagiotou-Schenkel, Irini, Rother, Lisa-Marie, Beck, Dorothea, Le Cornet, Lucian and Kulozik, Andreas E. (2020). Sickle cell disease in Germany: Results from a national registry. Pediatr. Blood Cancer, 67 (4). HOBOKEN: WILEY. ISSN 1545-5017

Lobitz, Stephan ORCID: 0000-0001-5398-0610, Telfer, Paul, Cela, Elena, Allaf, Bichr, Angastiniotis, Michael, Backman Johansson, Carolina, Badens, Catherine, Bento, Celeste ORCID: 0000-0003-1080-411X, Bouva, Marelle J., Canatan, Duran, Charlton, Matthew, Coppinger, Cathy, Daniel, Yvonne, de Montalembert, Marianne, Ducoroy, Patrick, Dulin, Elena, Fingerhut, Ralph, Froemmel, Claudia, Garcia-Morin, Marina, Gulbis, Beatrice, Holtkamp, Ute, Inusa, Baba, James, John, Kleanthous, Marina, Klein, Jeannette, Kunz, Joachim B., Langabeer, Lisa, Lapoumeroulie, Claudine, Marcao, Ana, Marin Soria, Jose L., McMahon, Corrina, Ohene-Frempong, Kwaku, Perini, Jean-Marc, Piel, Frederic B., Russo, Giovanna ORCID: 0000-0001-9369-7473, Sainati, Laura, Schmugge, Markus, Streetly, Allison, Tshilolo, Leon, Turner, Charles, Venturelli, Donatella, Vilarinho, Laura ORCID: 0000-0001-6186-779X, Yahyaoui, Rachel, Elion, Jacques ORCID: 0000-0002-8407-1783 and Colombatti, Raffaella ORCID: 0000-0001-9797-0457 (2018). Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference. Br. J. Haematol., 183 (4). S. 648 - 661. HOBOKEN: WILEY. ISSN 1365-2141

Yoshimi, Ayami, Gruenert, Sarah C., Cario, Holger, Fisch, Aron, Gross-Wieltsch, Ute, Timmermann, Kirsten, Kontny, Udo, Lobitz, Stephan, Odenthal, Helen S., Schmid, Irene, Uetz, Barbara, Hoell, Tanja, Roetig, Agnes, Luecke, Thomas, Borkhardt, Arndt, Strauss, Gabriele, Hohnecker, Alexander, Metzler, Markus ORCID: 0000-0002-4523-1676, Karall, Daniela and Niemeyer, Charlotte M. (2021). Haematological characteristics and spontaneous haematological recovery in Pearson syndrome. Br. J. Haematol., 193 (6). S. 1283 - 1288. HOBOKEN: WILEY. ISSN 1365-2141