Guillaume Dorval

Pseudouridylation defect due to <i>DKC1</i> and <i>NOP10</i> mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis

Eszter Balogh, Jennifer C. Chandler, Máté Varga et al. · Proceedings of the National Academy of Sciences · 2020 · 51 citations · Full text

Response to First Course of Intensified Immunosuppression in Genetically Stratified Steroid Resistant Nephrotic Syndrome

Anna E. Mason, Ethan S Sen, Agnieszka Bierżyńska et al. · Clinical Journal of the American Society of Nephrology · 2020 · 49 citations · Full text

TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways

Guillaume Dorval, Valeryia Kuzmuk, Olivier Gribouval et al. · The American Journal of Human Genetics · 2019 · 48 citations · Full text

Mendelian Disorder, Defective Trafficking Pathways, Disease Mechanism +8

Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome

Guillaume Dorval, Olivier Gribouval, Vanesa Martinez-Barquero et al. · Pediatric Nephrology · 2017 · 41 citations

Glomerulonephritis, Genetic Disorder, Medicine +8

A wave of deep intronic mutations in X-linked Alport syndrome

Marie Boisson, Christelle Arrondel, Nicolas Cagnard et al. · Kidney International · 2023 · 23 citations · Full text

Genetics, Pathology, Transcriptomics Technology +18