Proteomics identify disease-associated variants in patients with rare diseases undiagnosed after genome sequencing.
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| Title: | Proteomics identify disease-associated variants in patients with rare diseases undiagnosed after genome sequencing. |
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| Authors: | Carrasco-Zanini J; Precision Healthcare University Research Institute, Queen Mary University of London, London, UK., Andrade J; Angiogenesis & Metabolism Laboratory, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany.; Max Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany., Pietzner M; Precision Healthcare University Research Institute, Queen Mary University of London, London, UK.; Computational Medicine, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany., Kousathanas A; Genomics England, London, UK., Jacobsen JOB; William Harvey Research Institute, Queen Mary University of London, London, UK., Lord J; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK., Telugu N; Max Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany., Diecke S; Max Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany.; DZHK (German Centre for Cardiovascular Research), Partner Site Berlin, 10785 Berlin, Germany., Mülleder M; Department of Biochemistry, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; Core Facility, High-Throughput Mass Spectrometry, Charité, Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Bierbaum D; Department of Biochemistry, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany., Vestito L; William Harvey Research Institute, Queen Mary University of London, London, UK., Robinson PN; Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany., Ralser M; Department of Biochemistry, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; Core Facility, High-Throughput Mass Spectrometry, Charité, Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany., Baralle D; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK., Wareham NJ; MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Institute of Metabolic Science, CB2 0QQ Cambridge, UK., Elgar G; Genomics England, London, UK., Potente M; Angiogenesis & Metabolism Laboratory, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany.; Max Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany., Brown MA; Genomics England, London, UK., Caulfield M; William Harvey Research Institute, Queen Mary University of London, London, UK., Smedley D; William Harvey Research Institute, Queen Mary University of London, London, UK., Langenberg C; Precision Healthcare University Research Institute, Queen Mary University of London, London, UK.; Computational Medicine, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany.; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany. |
| Source: | Science translational medicine [Sci Transl Med] 2026 Sep 09; Vol. 18 (866), pp. eaeb1331. Date of Electronic Publication: 2026 Sep 09. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1946-6242 (Electronic) Linking ISSN: 19466234 NLM ISO Abbreviation: Sci Transl Med Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1946-6242 |
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| DOI: | 10.1126/scitranslmed.aeb1331 |
