Einträge von Schmidts, Miriam auf dem Publikationsserver

Scherer, Nora, Fässler, Daniel, Borisov, Oleg, Cheng, Yurong, Schlosser, Pascal, Wuttke, Matthias, Haug, Stefan, Li, Yong, Telkämper, Fabian, Patil, Suraj, Meiselbach, Heike, Wong, Casper, Berger, Urs, Sekula, Peggy, Hoppmann, Anselm, Schultheiss, Ulla T, Mozaffari, Sahar, Xi, Yannan, Graham, Robert, Schmidts, Miriam, Köttgen, Michael, Oefner, Peter J. , Knauf, Felix, Eckardt, Kai-Uwe, Grünert, Sarah C, Estrada, Karol, Thiele, Ines, Hertel, Johannes und Köttgen, Anna (2025) Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits. Nature genetics 57, S. 193-205.

Schlosser, Pascal, Scherer, Nora, Grundner-Culemann, Franziska, Monteiro-Martins, Sara, Haug, Stefan, Steinbrenner, Inga, Uluvar, Burulça, Wuttke, Matthias, Cheng, Yurong, Ekici, Arif B., Gyimesi, Gergely, Karoly, Edward D., Kotsis, Fruzsina, Mielke, Johanna, Gomez, Maria F., Yu, Bing, Grams, Morgan E., Coresh, Josef, Boerwinkle, Eric, Köttgen, Michael, Kronenberg, Florian, Meiselbach, Heike, Mohney, Robert P., Akilesh, Shreeram, Schmidts, Miriam, Hediger, Matthias A., Schultheiss, Ulla T., Eckardt, Kai-Uwe, Oefner, Peter J., Sekula, Peggy, Li, Yong und Köttgen, Anna (2023) Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine. Nature genetics.

Cheng, Yurong, Schlosser, Pascal , Hertel, Johannes, Sekula, Peggy , Oefner, Peter J., Spiekerkoetter, Ute, Mielke, Johanna, Freitag, Daniel F. , Schmidts, Miriam , Kronenberg, Florian , Eckardt, Kai-Uwe, Thiele, Ines , Li, Yong und Köttgen, Anna (2021) Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism. Nature Communications 12 (964).

Nöthe-Menchen, Tabea, Wallmeier, Julia, Pennekamp, Petra, Höben, Inga M., Olbrich, Heike, Loges, Niki T., Raidt, Johanna, Dougherty, Gerard W., Hjeij, Rim, Dworniczak, Bernd, Omran, Heymut, Amirav, Israel, Biebach, Luisa, Fabricius, Dorit, Griese, Matthias, Große-Onnebrink, Jörg, Häffner, Karsten, Hector, Andreas, Jung, Andreas, Kaiser-Labusch, Petra, Kaiser, Thomas, Keßler, Christina, Kitz, Richard, Knowles, Michael R., Koerner-Rettberg, Cordula, Kristoffersson, Ulf, Leigh, Margaret W., Mertsch, Pontus, Mischo, Bernhard, Nielsen, Kim G. , Poeta, Marco, Rietschel, Ernst, Roth, Samra, Santamaria, Francesca, Schmalstieg, Christian, Schmidts, Miriam, Schwarz, Carsten, Schwerk, Nicolaus, Seithe, Horst, Tebbe, Johannes, Werner, Claudius und Zariwala, Maimoona A. (2019) Randomization of Left-Right Asymmetry and Congenital Heart Defects. Circulation: Genomic and Precision Medicine 12 (11). Volltext nicht vorhanden.

Olbrich, Heike, Schmidts, Miriam , Werner, Claudius, Onoufriadis, Alexandros, Loges, Niki T., Raidt, Johanna, Banki, Nora Fanni, Shoemark, Amelia , Burgoyne, Tom , Al Turki, Saeed, Hurles, Matthew E., Köhler, Gabriele, Schroeder, Josef, Nürnberg, Gudrun, Nürnberg, Peter, Chung, Eddie M.K., Reinhardt, Richard , Marthin, June K., Nielsen, Kim G., Mitchison, Hannah M. und Omran, Heymut (2012) Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry. The American Journal of Human Genetics 91 (4), S. 672-684. Volltext nicht vorhanden.