Publications

Maroofian R, Zamani M, Kaiyrzhanov R, Liebmann L, Karimiani EG, …, Schmidts M, …, Severino M, Houlden H, Hübner CA. Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder. Genet Med (2023). Haug S, Muthusamy S, Li Y, Stewart G, Li X, Treppner M, Köttgen A, Akilesh S. Multi-omic analysis of human kidney tissue identified medulla-specific gene expression patterns. Kidney Int (2023). Kaiyrzhanov R, Rad A, Lin SJ, Bertoli-Avella A, Kallemeijn WW, …, Schmidts M, …, Varshney GK, Houlden H, Maroofian R. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain (2023). Kheirkhah A, Schachtl-Riess JF, Lamina C, Di Maio S, Koller A, …, Sekula P, …, Köttgen A, Eckardt KU, Kronenberg F. Meta-GWAS on PCSK9 concentrations reveals associations of novel loci outside the PCSK9 locus in White populations. Atherosclerosis (2023). Wu Y, Zehnle PMA, Rajak J, Koleci N, Andrieux G, …, Börries M, Niemeyer CM, Flotho C, Bohler S, Erlacher M. BH3 mimetics and azacitidine show synergistic effects on juvenile myelomonocytic leukemia. Leukemia (2023). Ramamoorthy S, Lebrecht D, Schanze D, Schanze I, Wieland I, …, Börries M, Niemeyer CM, Zenker M, Flotho C. Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup. Br J Haematol (2023). Riedmann H, Kayser S, Helmstädter M, Epting D, Bergmann C. Kif21a deficiency leads to impaired glomerular filtration barrier function. Sci Rep (2023). Arnold F, Kappes J, Rottmann FA, Westermann L, Welte T. HbA1c-dependent projection of long-term renal outcomes. J Intern Med (2023). Mehta S, Bernt M, Chambers M, Fahrner M, Föll MF, …, Schilling O, …, Price G, Jagtap PD, Griffin TJ. A Galaxy of informatics resources for MS-based proteomics. Expert Rev Proteomics (2023). Cosenza-Contreras M, Schäfer A, Sing J, Cook L, Stillger MN, …, Arnoux A, Bartsch JW, Schilling O. Proteometabolomics of initial and recurrent glioblastoma highlights an increased immune cell signature with altered lipid metabolism. Neuro Oncol (2023). Stölting G, Dinh HA, Volkert M, Hellmig N, Schewe J, …, Rivalan M, Nottoli T, Scholl UI. Isradipine therapy in Cacna1dIle772Met/+ mice ameliorates primary aldosteronism and neurologic abnormalities. JCI Insight (2023). Chubanov V, Köttgen M, Touyz RM, Gudermann T. TRPM channels in health and disease. Nat Rev Nephrol (2023). Ott E, Hoff S, Indorf L, Ditengou FA, Müller J, …, Kramer-Zucker A, Bergmann C, Epting D. A novel role for the chloride intracellular channel protein Clic5 in ciliary function. Sci Rep (2023). Trevisan-Silva D, Cosenza-Contreras M, Oliveira UC, da Rós N, Andrade-Silva D, …, Nishiyama-Jr. MY, Schilling O, Serrano SMT. Systemic toxicity of snake venom metalloproteinases: Multi-omics analyses of kidney and blood plasma disturbances in a mouse model. Int J Biol Macrobiol (2023). Grams ME, Coresh J, Matsushita K, Ballew SH, Sang Y, …, Köttgen A, …, Zhang L, Levey AS, Gansevoort RT. Estimated Glomerular Filtration Rate, Albuminuria, and Adverse Outcomes: An Individual-Participant Data Meta-Analysis. JAMA (2023). Gopalakrishnan J, Feistel K, Friedrich BM, Grapin-Botton A, Jurisch-Yaksi N, …, Schmidts M, Walentek P, Wachten D. Emerging principles of primary cilia dynamics in controlling tissue organization and function. EMBO J (2023).