Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.
Nature Genetics
Schlosser, Pascal P; Scherer, Nora N; Grundner-Culemann, Franziska F; Monteiro-Martins, Sara S; Haug, Stefan S; Steinbrenner, Inga I; Uluvar, Burulça B; Wuttke, Matthias M; Cheng, Yurong Y; Ekici, Arif B AB; Gyimesi, Gergely G; Karoly, Edward D ED; Kotsis, Fruzsina F; Mielke, Johanna J; Gomez, Maria F MF; Yu, Bing B; Grams, Morgan E ME; Coresh, Josef J; Boerwinkle, Eric E; Köttgen, Michael M; Kronenberg, Florian F; Meiselbach, Heike H; Mohney, Robert P RP; Akilesh, Shreeram S; , ; Schmidts, Miriam M; Hediger, Matthias A MA; Schultheiss, Ulla T UT; Eckardt, Kai-Uwe KU; Oefner, Peter J PJ; Sekula, Peggy P; Li, Yong Y; Köttgen, Anna A
Tissue-specific multi-omics analysis of atrial fibrillation.
Nature Communications
Assum, Ines I; Krause, Julia J; Scheinhardt, Markus O MO; Müller, Christian C; Hammer, Elke E; Börschel, Christin S CS; Völker, Uwe U; Conradi, Lenard L; Geelhoed, Bastiaan B; Zeller, Tanja T; Schnabel, Renate B RB; Heinig, Matthias M
Tissue-specific multi-omics analysis of atrial fibrillation.
Nature Communications
Assum, Ines I; Krause, Julia J; Scheinhardt, Markus O MO; Müller, Christian C; Hammer, Elke E; Börschel, Christin S CS; Völker, Uwe U; Conradi, Lenard L; Geelhoed, Bastiaan B; Zeller, Tanja T; Schnabel, Renate B RB; Heinig, Matthias M
Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.
Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
The role of genetic variation of human metabolism for BMI, mental traits and mental disorders.
Molecular Metabolism
Hebebrand, Johannes J; Peters, Triinu T; Schijven, Dick D; Hebebrand, Moritz M; Grasemann, Corinna C; Winkler, Thomas W TW; Heid, Iris M IM; Antel, Jochen J; Föcker, Manuel M; Tegeler, Lisa L; Brauner, Lena L; Adan, Roger A H RAH; Luykx, Jurjen J JJ; Correll, Christoph U CU; König, Inke R IR; Hinney, Anke A; Libuda, Lars L
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.
Plos Genetics
Rueedi, Rico R; Ledda, Mirko M; Nicholls, Andrew W AW; Salek, Reza M RM; Marques-Vidal, Pedro P; Morya, Edgard E; Sameshima, Koichi K; Montoliu, Ivan I; Da Silva, Laeticia L; Collino, Sebastiano S; Martin, François-Pierre FP; Rezzi, Serge S; Steinbeck, Christoph C; Waterworth, Dawn M DM; Waeber, Gérard G; Vollenweider, Peter P; Beckmann, Jacques S JS; Le Coutre, Johannes J; Mooser, Vincent V; Bergmann, Sven S; Genick, Ulrich K UK; Kutalik, Zoltán Z