Research output per year
Research output per year
Personal profile
Expertises
Cell biology; stem cell biology; primary cilia
Current research
Currently working on a project aiming to use induced pluripotent stem cells as a model for retinal degeneration in Bardet-Biedl syndrome
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Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells
Hey, C. A. B., Larsen, L. J., Tümer, Z., Brøndum-Nielsen, K., Grønskov, K., Hjortshøj, T. D. & Møller, L. B., Feb 2021, In: International Journal of Molecular Sciences. 22, 3, p. 1-18 18 p., 1345.Research output: Contribution to journal › Journal article › Research › peer-review
6 Citations (Scopus) -
A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium
Jespersgaard, C., Hey, A. B., Ilginis, T., Hjortshøj, T. D., Fang, M., Bertelsen, M., Bech, N., Jensen, H., Larsen, L. J., Tümer, Z., Rosenberg, T., Brøndum-Nielsen, K., Møller, L. B. & Grønskov, K., 7 Feb 2020, In: Investigative ophthalmology & visual science. 61, 2, p. 29 2761939.Research output: Contribution to journal › Journal article › Research › peer-review
3 Citations (Scopus) -
Functional Investigation of Variants Identified in patients with Retinal dystrophy
Hey, A., 2020Research output: Book/Report › Ph.D. thesis
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Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex
Rosengren, T., Nanhoe, S., de Almeida, L. G. D., Schönewolf-Greulich, B., Larsen, L. J., Hey, C. A. B., Dunø, M., Ek, J., Risom, L., Nellist, M. & Møller, L. B., 18 Jun 2020, In: Scientific Reports. 10, 1, p. 9909 9909.Research output: Contribution to journal › Journal article › Research › peer-review
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Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant
Hey, C. A. B., Larsen, L. J., Tümer, Z., Brøndum-Nielsen, K., Grønskov, K., Hjortshøj, T. D. & Møller, L. B., Dec 2019, In: Stem Cell Research. 41, p. 101594Research output: Contribution to journal › Journal article › Research › peer-review