Publication
Proteomics identify disease-associated variants in patients with rare diseases undiagnosed after genome sequencing
Julia Carrasco-Zanini, Jorge Andrade, Maik Pietzner, Athanasios Kousathanas, Julius O. B. Jacobsen, Jenny Lord, Narasimha Telugu, Sebastian Diecke, Michael Mülleder, Dominik Bierbaum, Letizia Vestito, Peter N. Robinson, Markus Ralser, Diana Baralle, Nicholas J. Wareham, Greg Elgar, Michael Potente, Matthew A. Brown, Mark Caulfield, Damian Smedley, Claudia Langenberg
Science Translational Medicine, September 2026, American Association for the Advancement of Science
DOI: 10.1126/scitranslmed.aeb1331