Universität zu Köln

Bamborschke, Daniel, Kreutzer, Mona, Koy, Anne, Koerber, Friederike, Lucas, Nadja, Huenseler, Christoph, Herkenrath, Peter, Lee-Kirsch, Min Ae and Cirak, Sebahattin (2021). PNPT1 mutations may cause Aicardi-Goutie` res-Syndrome. Brain Dev., 43 (2). S. 320 - 325. AMSTERDAM: ELSEVIER. ISSN 1872-7131

Fazeli, Walid, Bamborschke, Daniel, Moawia, Abubakar, Bakhtiari, Somayeh, Tafakhori, Abbas, Giersdorf, Matthias, Hahn, Andreas, Weik, Anja, Kolzter, Kirsten, Shafiee, Sajad, Jin, Sheng Chih ORCID: 0000-0002-5777-7262, Koerber, Friederike, Lee-Kirsch, Min Ae, Darvish, Hossein, Cirak, Sebahattin, Kruer, Michael C. and Koy, Anne (2022). The phenotypic spectrum of PCDH12 associated disorders - Five new cases and review of the literature. Eur. J. Paediatr. Neurol., 36. S. 7 - 14. OXFORD: ELSEVIER SCI LTD. ISSN 1532-2130

Meinhardt, Andrea, Ramos, Paula C., Dohmen, R. Juergen, Lucas, Nadja, Lee-Kirsch, Min Ae, Becker, Benjamin, de Laffolie, Jan, Cunha, Tomas, Niehues, Tim, Salzer, Ulrich, Yoshimi, Ayami, Erlacher, Miriam, Peters, Anke M. J., Ehl, Stephan, Strahm, Brigitte and Speckmann, Carsten (2021). Curative Treatment of POMP-Related Autoinflammation and Immune Dysregulation (PRAID) by Hematopoietic Stem Cell Transplantation. J. Clin. Immunol., 41 (7). S. 1664 - 1668. NEW YORK: SPRINGER/PLENUM PUBLISHERS. ISSN 1573-2592

de Jesus, Adriana A., Hou, Yangfeng, Brooks, Stephen, Malle, Louise, Biancotto, Angelique ORCID: 0000-0003-2271-009X, Huang, Yan, Calvo, Katherine R., Marrero, Bernadette, Moir, Susan, Oler, Andrew J., Deng, Zuoming, Sanchez, Gina A. Montealegre, Ahmed, Amina, Allenspach, Eric, Arabshahi, Bita, Behrens, Edward, Benseler, Susanne, Bezrodnik, Liliana, Bout-Tabaku, Sharon, Brescia, AnneMarie C., Brown, Diane, Burnham, Jon M., Soledad Caldirola, Maria, Carrasco, Ruy, Chan, Alice Y., Cimaz, Rolando, Dancey, Paul, Dare, Jason, DeGuzman, Marietta, Dimitriades, Victoria, Ferguson, Ian, Ferguson, Polly, Finn, Laura, Gattorno, Marco ORCID: 0000-0003-0704-1916, Grom, Alexei A., Hanson, Eric P., Hashkes, Philip J., Hedrich, Christian M., Herzog, Ronit, Horneff, Gerd, Jerath, Rita, Kessler, Elizabeth, Kim, Hanna ORCID: 0000-0002-0595-6533, Kingsbury, Daniel J., Laxer, Ronald M., Lee, Pui Y., Lee-Kirsch, Min Ae, Lewandowski, Laura, Li, Suzanne, Lilleby, Vibke, Mammadova, Vafa, Moorthy, Lakshmi N., Nasrullayeva, Gulnara, O'Neil, Kathleen M., Onel, Karen, Ozen, Seza, Pan, Nancy ORCID: 0000-0001-7884-3751, Pillet, Pascal, Piotto, Daniela G. P., Punaro, Marilynn G., Reiff, Andreas, Reinhardt, Adam, Rider, Lisa G., Rivas-Chacon, Rafael, Ronis, Tova, Roesen-Wolff, Angela, Roth, Johannes ORCID: 0000-0002-6109-1503, Ruth, Natasha Mckerran, Rygg, Marite, Schmeling, Heinrike, Schulert, Grant, Scott, Christiaan, Seminario, Gisella, Shulman, Andrew, Sivaraman, Vidya, Son, Mary Beth, Stepanovskiy, Yuriy, Stringer, Elizabeth, Taber, Sara, Terreri, Maria Teresa, Tifft, Cynthia, Torgerson, Troy, Tosi, Laura, Van Royen-Kerkhof, Annet, Muskardin, Theresa Wampler, Canna, Scott W. and Goldbach-Mansky, Raphaela (2020). Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases. J. Clin. Invest., 130 (4). S. 1669 - 1683. ANN ARBOR: AMER SOC CLINICAL INVESTIGATION INC. ISSN 1558-8238