TY  - CONF

T1  - Proteomics to identify disease-associated variants in rare disease patients undiagnosed after whole-genome sequencing: a proof-of-concept study in the 100,000 Genomes Project (Award Candidate)

JO  - EUROPEAN JOURNAL OF HUMAN GENETICS

PY  - 2025/11/01

AU  - Carrasco J

AU  - Sanchez Z

AU  - Pietzner M

AU  - Kousathanas A

AU  - Jacobsen J

AU  - Lord J

AU  - Robinson PN

AU  - Baralle D

AU  - Wareham NJ

AU  - Brown MA

AU  - Elgar G et al

ED  - 

VL  - 33

SP  - 63

EP  - 63

Y2  - 2026/03/31

ER  -