Shirlee Shril

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

Monogenic causes of chronic kidney disease in adults

Dervla M. Connaughton, Claire Kennedy, Shirlee Shril et al. · Kidney International · 2019 · 262 citations

Glomerular Disease, Glomerulonephritis, Renal Disease +7

The copy number variation landscape of congenital anomalies of the kidney and urinary tract

Miguel Verbitsky, Rik Westland, Alejandra Perez et al. · Nature Genetics · 2018 · 236 citations · Full text

Developmental Anomaly, Urological Research, Urology +8

Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome

Jillian K. Warejko, Weizhen Tan, Ankana Daga et al. · Clinical Journal of the American Society of Nephrology · 2017 · 225 citations · Full text

Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome

Daniela A. Braun, Carolin E. Sadowski, Stefan Kohl et al. · Nature Genetics · 2016 · 212 citations · Full text

Genetic Disorder, Genetics, Renal Pathology +5