Waters, Aoife M.

Top Publications

Top Publications Authored or Co-Authored by "Waters, Aoife M."

• Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

  Nature Genetics, Volume 43, No. 3, Year 2011, Citations 227
• Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis

  Proceedings of the National Academy of Sciences of the United States of America, Volume 117, No. 26, Year 2020, Citations 57
• IPNA clinical practice recommendations for the diagnosis and management of children with steroid-sensitive nephrotic syndrome

  Pediatric Nephrology, Volume 38, No. 3, Year 2023, Citations 53
• Genetic identification of two novel loci associated with steroid-sensitive nephrotic syndrome

  Journal of the American Society of Nephrology, Volume 30, No. 8, Year 2019, Citations 35
• Activation of podocyte Notch mediates early Wt1 glomerulopathy

  Kidney International, Volume 93, No. 4, Year 2018, Citations 27