Sherif El Desoky

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 · 341 citations · Full text

Medicine, Genetics, Molecular Genetics +15

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 · 235 citations · Full text

Life Sciences, Genetics, Nephrology +15

Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract

Amelie T. van der Ven, Dervla M. Connaughton, Hadas Ityel et al. · Journal of the American Society of Nephrology · 2018 · 210 citations

Medicine, Genetics, Molecular Genetics +17

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment

Shazia Ashraf, Hiroki Kudo, Jia Rao et al. · Nature Communications · 2018 · 126 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome

Xiaoyuan Jia, Tomohiko Yamamura, Rasheed Gbadegesin et al. · Kidney International · 2020 · 73 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17