Schueler, Marcus

Top Publications

Top Publications Authored or Co-Authored by "Schueler, Marcus"

• Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity

  Kidney International, Volume 89, No. 2, Year 2016, Citations 78
• Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

  Journal of Medical Genetics, Volume 53, No. 3, Year 2016, Citations 43
• FAT1 mutations cause a glomerulotubular nephropathy

  Nature Communications, Volume 7, Article 10822, Year 2016, Citations 42
• IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype

  Journal of Medical Genetics, Volume 52, No. 10, Year 2015, Citations 30
• Mutations of IFT81, encoding an IFT-B core protein, as a rare cause of a ciliopathy

  Cilia, No. SUPPLEMENT 1, Article P7, Year 2015, Citations 21