Phillip Beales

Affiliations: 
University College London, London, United Kingdom 
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"Phillip Beales"
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Publications

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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
Boldt K, van Reeuwijk J, Lu Q, et al. (2016) An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. Nature Communications. 7: 11491
Ansari M, Rainger J, Hanson IM, et al. (2016) Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome. Plos One. 11: e0153757
Sugiyama Y, Shelley EJ, Yoder BK, et al. (2016) Non-essential role for cilia in coordinating precise alignment of lens fibres. Mechanisms of Development
Huang J, Howie B, McCarthy S, et al. (2015) Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel. Nature Communications. 6: 8111
Williams HJ, Hurst JR, Ocaka L, et al. (2015) The use of whole-exome sequencing to disentangle complex phenotypes. European Journal of Human Genetics : Ejhg
Christou-Savina S, Beales PL, Osborn DPS. (2015) Evaluation of Zebrafish kidney function using a fluorescent clearance assay Journal of Visualized Experiments
Waters AM, Asfahani R, Carroll P, et al. (2015) The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes. Journal of Medical Genetics. 52: 147-56
Forsythe E, Sparks K, Hoskins BE, et al. (2015) Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome Clinical Genetics. 87: 343-349
Shaheen R, Schmidts M, Faqeih E, et al. (2015) A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies Human Molecular Genetics. 24: 1410-1419
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