Tilman Jobst‐Schwan
Friedrich-Alexander-Universität Erlangen-Nürnberg(DE)Universitätsklinikum Erlangen(DE)Comprehensive Cancer Center Erlangen(DE)
Publications by Year
Research Areas
Renal Diseases and Glomerulopathies, Renal and related cancers, Ion Transport and Channel Regulation, Genetic and Kidney Cyst Diseases, Kidney Stones and Urolithiasis Treatments
Most-Cited Works
- → Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome(2017)228 cited
- → Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly(2017)217 cited
- → Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract(2018)205 cited
- → Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency(2017)205 cited
- → Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis(2017)195 cited
- → Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients(2019)152 cited
- → Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome