Shazia Ashraf

A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome

Carolin E. Sadowski, Svjetlana Lovric, Shazia Ashraf et al. · Journal of the American Society of Nephrology · 2014 · 637 citations · Full text

Genetics, Renal Pathology, Genetic Epidemiology +19

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

Bernward Hinkes, Roger C. Wiggins, Rasheed Gbadegesin et al. · Nature Genetics · 2006 · 557 citations

Mendelian Disorder, Genetic Disorder, Genetics +7

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

Saskia F. Heeringa, Gil Chernin, Moumita Chaki et al. · Journal of Clinical Investigation · 2011 · 394 citations · Full text

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

Shazia Ashraf, Heon Yung Gee, Stéphanie Woerner et al. · Journal of Clinical Investigation · 2013 · 333 citations · Full text

Genetics, Renal Pathology, Immunology +17

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

Heon Yung Gee, Pawaree Saisawat, Shazia Ashraf et al. · Journal of Clinical Investigation · 2013 · 226 citations · Full text

Glomerulonephritis, Renal Function, Disease Mechanism +15