Sayer, John Andrew

Top Publications

Top Publications Authored or Co-Authored by "Sayer, John Andrew"

• Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

  Cell, Volume 150, No. 3, Year 2012, Citations 357
• Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis

  Kidney International, Volume 93, No. 1, Year 2018, Citations 132
• 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
• 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
• Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome

  Journal of Clinical Investigation, Volume 140, No. 8, Year 2020, Citations 40