Research output per year
Research output per year
Personal profile
Expertises
clinical genetics; congenital syndromes and chromosomal disorders including fragile X syndrome and Rett syndrome; molecular genetics of inherited eye disorders; cytogenetics; imprinting disorders; prenatal diagnosis
Main research areas
Genetics of mental retardation and visual impairment
Current research
Investigation of premutation carriers in fragile X syndrome;
Molecular genetic analyses of patients with retinal dystrophy
Potential conflicts of interest
None
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The effect of casein glycomacropeptide versus free synthetic amino acids for early treatment of phenylketonuria in a mice model
Ahring, K. K., Dagnæs-Hansen, F., Brüel, A., Christensen, M., Jensen, E., Jensen, T. G., Johannsen, M., Johansen, K. S., Lund, A. M., Madsen, J. G., Brøndum-Nielsen, K., Pedersen, M., Sørensen, L. K., Kjolby, M. & Møller, L. B., 2022, In: PLoS One. 17, 1, p. 1-26 26 p., e0261150.Research output: Contribution to journal › Journal article › Research › peer-review
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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) -
Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa
Jespersgaard, C., Bertelsen, M., Arif, F., Gellert-Kristensen, H. G., Fang, M., Jensen, H., Rosenberg, T., Tümer, Z., Møller, L. B., Brøndum-Nielsen, K. & Grønskov, K., 18 Dec 2020, In: Genes. 11, 12, p. 1-10 10 p., 1517.Research output: Contribution to journal › Journal article › Research › peer-review
8 Citations (Scopus) -
Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism
Christesen, H. T., Christensen, L. G., Löfgren, Å. M., Brøndum-Nielsen, K., Svensson, J., Brusgaard, K., Samuelsson, S., Elfving, M., Jonson, T., Grønskov, K., Rasmussen, L., Backman, T., Hansen, L. K., Larsen, A. R., Petersen, H. & Detlefsen, S., Jan 2020, In: European Journal of Medical Genetics. 63, 1, p. 103632Research output: Contribution to journal › Journal article › Research › peer-review
6 Citations (Scopus)