Phillip Beales
Affiliations: | University College London, London, United Kingdom |
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"Phillip Beales"
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| Forsythe E, Kenny J, Bacchelli C, et al. (2018) Managing Bardet-Biedl Syndrome-Now and in the Future. Frontiers in Pediatrics. 6: 23 |
| Antony D, Nampoory N, Bacchelli C, et al. (2017) Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature. European Journal of Medical Genetics |
| Sugiyama Y, Shelley EJ, Yoder BK, et al. (2016) Non-essential role for cilia in coordinating precise alignment of lens fibres. Mechanisms of Development |
| Wheway G, Schmidts M, Mans DA, et al. (2015) An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nature Cell Biology |
| Shoemark A, Dixon M, Beales PL, et al. (2015) Bardet Biedl syndrome: motile ciliary phenotype. Chest. 147: 764-70 |
| Su X, Driscoll K, Yao G, et al. (2014) Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein. Human Molecular Genetics. 23: 5441-51 |
| Onoufriadis A, Shoemark A, Schmidts M, et al. (2014) Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects. Human Molecular Genetics. 23: 3362-74 |
| Onoufriadis A, Shoemark A, Munye MM, et al. (2014) Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm. Journal of Medical Genetics. 51: 61-7 |
| McInerney-Leo AM, Schmidts M, Cortés CR, et al. (2013) Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. American Journal of Human Genetics. 93: 515-23 |
| Hernandez-Hernandez V, Pravincumar P, Diaz-Font A, et al. (2013) Bardet-biedl syndrome proteins control the cilia length through regulation of actin polymerization Human Molecular Genetics. 22: 3858-3868 |