Paul Goodyer
Affiliations: | McGill University, Montreal, QC, Canada |
Area:
Molecular Biology, Animal Physiology BiologyGoogle:
"Paul Goodyer"
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Publications
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| Sentell ZT, Mougharbel L, Nurcombe ZW, et al. (2024) Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis. Human Molecular Genetics |
| Sentell ZT, Nurcombe ZW, Mougharbel L, et al. (2024) Expanding the phenotypic spectrum of CC2D2A-related ciliopathies: a rare homozygous nonsense variant in a patient with suspected nephronophthisis. European Journal of Human Genetics : Ejhg |
| Torban E, Goodyer P. (2023) Wilms Tumor Gene 1: Lessons from Kidney Development and Cancer. American Journal of Physiology. Renal Physiology |
| Tokhmafshan F, Dickinson K, Akpa MM, et al. (2019) A no-nonsense approach to hereditary kidney disease. Pediatric Nephrology (Berlin, Germany) |
| Brasell EJ, Chu LL, Akpa MM, et al. (2019) The novel aminoglycoside, ELX-02, permits CTNSW138X translational read-through and restores lysosomal cystine efflux in cystinosis. Plos One. 14: e0223954 |
| Torban E, Braun F, Wanner N, et al. (2019) From podocyte biology to novel cures for glomerular disease. Kidney International |
| Chung CF, Kitzler T, Kachurina N, et al. (2019) Intrinsic tumor necrosis factor-α pathway is activated in a subset of patients with focal segmental glomerulosclerosis. Plos One. 14: e0216426 |
| Dickinson KK, Hammond LC, Karner CM, et al. (2019) Molecular determinants of WNT9b responsiveness in nephron progenitor cells. Plos One. 14: e0215139 |
| Brasell EJ, Chu L, El Kares R, et al. (2018) The aminoglycoside geneticin permits translational readthrough of the CTNS W138X nonsense mutation in fibroblasts from patients with nephropathic cystinosis. Pediatric Nephrology (Berlin, Germany) |
| Kitzler TM, Kachurina N, Bitzan MM, et al. (2018) Use of genomic and functional analysis to characterize patients with steroid-resistant nephrotic syndrome. Pediatric Nephrology (Berlin, Germany) |