Beales, Philip

Ciliopathies: an expanding disease spectrum

Waters, A. M., & Beales, P. L. (2011) · Pediatric Nephrology

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

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Common genetic variation drives molecular heterogeneity in human iPSCs

Kilpinen, H., Goncalves, A., Leha, A., Afzal, V., Alasoo, K., Ashford, S., Bala, S., Bensaddek, D., Casale, F. P., Culley, O. J., et al. (2017) · Nature

Pluripotent Stem Cells ResearchGenetic Associations and Epidemiology

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Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response

Gerdes, J. M., Liu, Y., Zaghloul, N. A., Leitch, C. C., Lawson, S. S., Kato, M., Beachy, P. A., Beales, P. L., DeMartino, G. N., Fisher, S., et al. (2007) · Nature Genetics

Genetic and Kidney Cyst DiseasesWnt/β-catenin signaling in development and cancer

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TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Program, N. C. S., Davis, E. E., Zhang, Q., Liu, Q., Diplas, B. H., Davey, L. M., Hartley, J., Stoetzel, C., Szymanska, K., Ramaswami, G., et al. (2011) · Nature Genetics

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

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Single-cell RNA-sequencing of differentiating iPS cells reveals dynamic genetic effects on gene expression

Cuomo, A. S. E., Seaton, D. D., McCarthy, D. J., Martinez, I., Bonder, M. J., Garcia-Bernardo, J., Amatya, S., Madrigal, P., Isaacson, A., Buettner, F., et al. (2020) · Nature Communications

Pluripotent Stem Cells ResearchSingle-cell and spatial transcriptomics

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An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Boldt, K., van Reeuwijk, J., Lu, Q., Koutroumpas, K., Nguyen, T.-M. T., Texier, Y., van Beersum, S. E. C., Horn, N., Willer, J. R., Mans, D. A., et al. (2016) · Nature Communications

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

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Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

Sousa, S. B., Jenkins, D., Chanudet, E., Tasseva, G., Ishida, M., Anderson, G., Docker, J., Ryten, M., Sa, J., Saraiva, J. M., et al. (2014) · Nature Genetics

Dermatological and Skeletal DisordersGenomics and Rare Diseases

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Bardet–Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self-tolerance

Tsyklauri, O., Niederlova, V., Forsythe, E., Prasai, A., Drobek, A., Kasparek, P., Sparks, K., Trachtulec, Z., Prochazka, J., Sedlacek, R., et al. (2021) · The EMBO Reports

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