Egyptian Group for Orphan Renal Diseases Egord

Top Publications

Top Publications Authored or Co-Authored in "Egyptian Group for Orphan Renal Diseases Egord"

• ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

  Journal of Clinical Investigation, Volume 123, No. 8, Year 2013, Citations 208
• 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
• 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
• Mutations in PRDM15 are a novel cause of galloway-mowat syndrome

  Journal of the American Society of Nephrology, Volume 32, No. 3, Year 2021, Citations 43
• Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients

  Nephron - Clinical Practice, Volume 120, No. 3, Year 2012, Citations 33