Amelie T. van der Ven

Monogenic causes of chronic kidney disease in adults

Dervla M. Connaughton, Claire Kennedy, Shirlee Shril et al. · Kidney International · 2019 · 275 citations

Medicine, Internal Medicine, Nephrology +9

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

Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients

Nina Mann, Daniela A. Braun, Kassaundra Amann et al. · Journal of the American Society of Nephrology · 2019 · 156 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

Sarah L. Stenton, Claudia B. Catarino, N.A. Andreeva et al. · Journal of Clinical Investigation · 2021 · 151 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17