Publication
Disease characteristics of SEPSECS deficiency: an international, retrospective, multicenter cohort study
Benjamin Y. Killam, Maria J. Knol, Noelia Fradejas-Villar, Thilo S. Chillon, George J.G. Ruijter, Ramon Bonte, Firdous Abdulwahab, Hesham Aldhalaan, Abdullah Alfaifi, Fowzan S. Alkuraya, Hessa S. Alsaif, Kaitlyn A. Kiernan, Anupama K. Puppala, Laura Baker, Leigh Batten, Aziza Chedrawi, Jennifer C. Dempsey, Dan Doherty, Laurence Faivre, Vykuntaraju K. Gowda, Mais O. Hashem, Erfan Heidari, Masoud Garshasbi, Yuji Inaba, Kazuhiro Iwama, Maria Kinali, Rudolf Korinthenberg, Gaetan Lesca, Reza Maroofian, Naomichi Matsumoto, Benoît Mazel, Stanley F. Nelson, Rinze F. Neuteboom, C. Ramona Nicolescu, Heather Olson, Annapurna Poduri, Masayuki Sasaki, David Schorling, Rebecca H. Signer, Varunvenkat M. Srinivasan, Abdullah Tamim, Ali R. Tavasoli, Ehab Tous, Henna Tyynismaa, W. Edward Visser, Antonio Vitobello, Victoria Vlachou, Martina Wilke, Hieab H.H. Adams, Lutz Schomburg, Ulrich Schweizer, Miljan Simonović, Serwet Demirdas
Genetics in Medicine, August 2026, Elsevier
DOI: 10.1016/j.gim.2026.102684