Johanna Magdalena Schmidt
Publications by Year
Research Areas
Renal Diseases and Glomerulopathies, Genetic and Kidney Cyst Diseases, Renal and related cancers, Ion Transport and Channel Regulation, Urological Disorders and 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
- → Stem-Cell-like Properties and Epithelial Plasticity Arise as Stable Traits after Transient Twist1 Activation(2015)176 cited
- → Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome(2018)140 cited
- → Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment(2018)121 cited
- → Mutations in WDR4 as a new cause of Galloway–Mowat syndrome(2018)100 cited
- → Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome(2017)54 cited
- → Genome-wide Association Study and Meta-Analysis Identify ISL1 as Genome-wide Significant Susceptibility Gene for Bladder Exstrophy(2015)53 cited