Kohl, Stefan

Top Publications

Top Publications Authored or Co-Authored by "Kohl, Stefan"

• A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome

  Journal of the American Society of Nephrology, Volume 26, No. 6, Year 2015, Citations 489
• ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

  American Journal of Human Genetics, Volume 93, No. 2, Year 2013, Citations 179
• Whole exome sequencing of patients with steroid-resistant nephrotic syndrome

  Clinical Journal of the American Society of Nephrology, Volume 13, No. 1, Year 2018, Citations 153
• Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

  American Journal of Human Genetics, Volume 107, No. 4, Year 2020, Citations 99
• Mild recessive mutations in six fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract

  Journal of the American Society of Nephrology, Volume 25, No. 9, Year 2014, Citations 94