Guillaume Dorval

Guillaume Dorval

INSERM - Paris / France
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 4571338
person_outline Guillaume Dorval's MOST POPULAR ARTICLES
1-) Refining genotype–phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variantsK Burgmaier, L Brinker, F Erger, BB Beck, MR Benz, C Bergmann, ...Kidney international 100 (3), 650-659, 2021482021
2-) Long-term efficacy and safety of repeated rituximab to maintain remission in idiopathic childhood nephrotic syndrome: an international studyEY Chan, LM Ellen, A Angeletti, Z Arslan, B Basu, O Boyer, CY Chan, ...Journal of the American Society of Nephrology 33 (6), 1193-1207, 2022492022
3-) TBC1D8B loss-of-function mutations lead to X-linked nephrotic syndrome via defective trafficking pathwaysG Dorval, V Kuzmuk, O Gribouval, GI Welsh, A Bierzynska, A Schmitt, ...The American Journal of Human Genetics 104 (2), 348-355, 2019492019
4-) Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndromeG Dorval, O Gribouval, V Martinez-Barquero, E Machuca, MJ Tête, ...Pediatric Nephrology 33, 473-483, 2018462018
5-) Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitisE Balogh, JC Chandler, M Varga, M Tahoun, DK Menyhárd, G Schay, ...Proceedings of the National Academy of Sciences 117 (26), 15137-15147, 2020442020