Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits.
Scherer N, Fässler D, Borisov O, Cheng Y, Schlosser P, Wuttke M, Haug S, Li Y, Telkämper F, Patil S, Meiselbach H, Wong C, Berger U, Sekula P, Hoppmann A, Schultheiss UT, Mozaffari S, Xi Y, Graham R, Schmidts M, Köttgen M, Oefner PJ, Knauf F, Eckardt KU, Grünert SC, Estrada K, Thiele I, Hertel J, Köttgen A.
Scherer N, et al. Among authors: patil s.
Nat Genet. 2025 Jan;57(1):193-205. doi: 10.1038/s41588-024-01965-7. Epub 2025 Jan 2.
Nat Genet. 2025.
PMID: 39747595
Free PMC article.