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| Morleo M, Franco B. (2020) OFD Type I syndrome: lessons learned from a rare ciliopathy. Biochemical Society Transactions |
| Alfieri M, Iaconis D, Tammaro R, et al. (2020) The centrosomal/basal body protein OFD1 is required for microtubule organization and cell cycle progression. Tissue & Cell. 64: 101369 |
| Cappuccio G, Apuzzo D, Alagia M, et al. (2020) Expansion of the phenotype of lateral meningocele syndrome. American Journal of Medical Genetics. Part A. 182: 1259-1262 |
| van Dam TJP, Kennedy J, van der Lee R, et al. (2019) CiliaCarta: An integrated and validated compendium of ciliary genes. Plos One. 14: e0216705 |
| Bruel AL, Franco B, Duffourd Y, et al. (2017) Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. Journal of Medical Genetics |
| Indrieri A, Grimaldi C, Zucchelli S, et al. (2016) Synthetic long non-coding RNAs [SINEUPs] rescue defective gene expression in vivo. Scientific Reports. 6: 27315 |
| Toriyama M, Lee C, Taylor SP, et al. (2016) The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nature Genetics |
| Franco B, Thauvin-Robinet C. (2016) Update on oral-facial-digital syndromes (OFDS). Cilia. 5: 12 |
| Ansari M, Rainger J, Hanson IM, et al. (2016) Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome. Plos One. 11: e0153757 |
| Thevenon J, Duplomb L, Phadke S, et al. (2016) Autosomal Recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia. Clinical Genetics |