Sindh Institute of Urology and Transplantation

Top Publications

Top Publications Authored or Co-Authored in "Sindh Institute of Urology and Transplantation"

• 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
• Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome

  Journal of Clinical Investigation, Volume 128, No. 10, Year 2018, Citations 73
• The Distribution and Most Recent Common Ancestor of the 17q21 Inversion in Humans

  American Journal of Human Genetics, Volume 86, No. 2, Year 2010, Citations 66
• Recommendations for developing effective and safe paediatric and congenital heart disease services in low-income and middle-income countries: A public health framework

  BMJ Global Health, Volume 8, No. 5, Article bmjgh-2023-012049, Year 2023, Citations 47