Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits

Nora Scherer(University of Freiburg), Anna Köttgen(University of Freiburg), Robert Graham(GenProMarkers (United States)), Heike Meiselbach, Johannes Hertel(Ollscoil na Gaillimhe – University of Galway), Stefan Haug(University of Freiburg), Sahar V. Mozaffari(Maze (United States)), Ulla T. Schultheiß(Pediatrics and Genetics), Yannan Xi(Maze (United States)), Matthias Wuttke(University of Freiburg), Miriam Schmidts(University of Freiburg), Michael Köttgen(University of Freiburg), Daniel Fässler(Universitätsmedizin Greifswald), Pascal Schlosser(University of Freiburg), Suraj Patil(University of Freiburg), Sarah C. Grünert(University Medical Center Freiburg), Kai‐Uwe Eckardt(Friedrich-Alexander-Universität Erlangen-Nürnberg), Urs Berger(Helmholtz Centre for Environmental Research), Ines Thiele(Ollscoil na Gaillimhe – University of Galway), Anselm Hoppmann(University of Freiburg), Peggy Sekula(University of Freiburg), Oleg Borisov(University of Freiburg), Fabian Telkämper(University of Freiburg), Yong Li(Target (United States)), Peter J. Oefner(University of Regensburg), Karol Estrada(Erasmus MC), Yurong Cheng(University of Freiburg), Felix Knauf(Mayo Clinic)
Nature Genetics
January 1, 2025
Cited by 13


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