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Dive into the research topics where Helena Gásdal Karstensen is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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Diagnostic yield of whole exome sequencing in a cohort of 825 patients
Andersen, P. F., Ek, J., Karstensen, H. G., Bak, M., Grønborg, S., Hove, H. B., Diness, B., Hjortshøj, T. D., Hammer, T. B., Høi-Hansen, C., Greulich, B. S., Bisgaard, A.-M., Duno, M. & Østergaard, E., Dec 2025, In: European Journal of Medical Genetics. 78, p. 105043 105043.Research output: Contribution to journal › Journal article › Research › peer-review
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Exploring RBFOX2 Haploinsufficiency: A New Genetic Link to Hypoplastic Left Heart Syndrome
Sauvestre, C., Bouchatal, A., Beneteau, C., Michaud, V., Blanc, P., Bouvagnet, P., Chung, W. K., Marcadier, J., Thomas, M. A., Karstensen, H. G., Born, A. P., Breen, C., Xiong, S., Ades, L. C., Dixit, A., Fradin, M. & Rooryck, C., Dec 2025, In: Circulation. Genomic and precision medicine. 18, 6, p. e005231Research output: Contribution to journal › Letter › peer-review
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Phenotype Spectrum of TRPM3-Associated Disorders
Jolitz, L., Helbig, I., Fitzgerald, M. P., McKeown Ruggiero, S., Cohen, S., Angelini, C., Vallespin, E., Michaud, V., Gerasimenko, A., Cogne, B., Isidor, B., Keren, B., Dyment, D., Heron, D., Karstensen, H. G., Cuppen, I., Christodoulou, J., Wilson, M., Lake, N. J. & Biskup, S. & 4 others, , Mar 2025, In: Annals of Neurology. 97, 3, p. 561-570 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
2 Citations (Scopus) -
Structural variants dysregulating FOXC2 cause lymphoedema distichiasis syndrome: a series of case reports
Dobbins, S. E., May, R., Noble, A. J., Uhlig, H. H., Fowler, E., Davies, A., Yu, J., Karstensen, H. G., Nissen, C. V., Schönewolf-Greulich, B., Djursby, M., Martin-Almedina, S., Gordon, K., Ostergaard, P., Pagnamenta, A. T. & Mansour, S., 2025, In: BMJ Connections Clinical Genetics and Genomics.. 2, 1, e000033.Research output: Contribution to journal › Journal article › Research › peer-review
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TRPM3-Associated Disorders: Clinical Spectrum and Treatment Options
Becker, L.-L., Jolitz, L., Helbig, I., McKeown Ruggiero, S., Cohen, S., Angelini, C., Vallespin, E., Michaud, V., Gerasimenko, A., Cogné, B., Isidor, B., Keren, B., Dyment, D., Heron, D., Karstensen, H. G., Cuppen, I., Christodoulou, J., Wilson, M., Lake, N. J. & Biskup, S. & 3 others, , 2025, In: Neuropediatrics. 56, S 01, p. S1-S24Research output: Contribution to journal › Journal article › Research › peer-review