Wolf, Matthias Tilmann Florian

Top Publications

Top Publications Authored or Co-Authored by "Wolf, Matthias Tilmann Florian"

• Mutations in KEOPS-complex genes cause nephritic syndrome with primary microcephaly

  Nature Genetics, Volume 49, No. 10, Year 2017, Citations 146
• Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

  Journal of Medical Genetics, Volume 48, No. 2, Year 2011, Citations 141
• An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes

  Kidney International, Volume 98, No. 6, Year 2020, Citations 56
• A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3

  Journal of Medical Genetics, Volume 40, No. 7, Year 2003, Citations 39