Agnieszka Bierżyńska

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

Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management

Agnieszka Bierżyńska, Hugh J. McCarthy, Katrina Soderquest et al. · Kidney International · 2017 · 274 citations · Full text

Glomerulonephritis, Urology, Renal Disease +13

Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome

Rathi Prasad, Irene Hadjidemetriou, Avinaash Maharaj et al. · Journal of Clinical Investigation · 2017 · 173 citations · Full text

Simultaneous Sequencing of 24 Genes Associated with Steroid-Resistant Nephrotic Syndrome

Hugh J. McCarthy, Agnieszka Bierżyńska, M. Wherlock et al. · Clinical Journal of the American Society of Nephrology · 2013 · 172 citations

FAT1 mutations cause a glomerulotubular nephropathy

Heon Yung Gee, Carolin E. Sadowski, Pardeep Aggarwal et al. · Nature Communications · 2016 · 128 citations · Full text