Oliver Wegehaupt, Oleg Borisov, Elena Sieni, Florian Oyen, Jasmin Mann, Maria Luisa Coniglio, Aurora Chinnici, Francesco Pegoraro, Linda Beneforti, Kimberly Gilmour, Despina Moshous, Geneviève de Saint Basile, Wenying Zhang, Rebecca Marsh, Carmela De Fusco, Katharina Wustrau, Fabio Timeus, Concetta Micalizzi, Eberhard Gunsilius, Laine Hosking, Sharon Choo, Sujal Ghosh, Anna Köttgen, Kai Lehmberg, Stephan Ehl. "Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants." Blood, 2025. doi:10.1182/blood.2024027954