Personal profile
Expertises
Rare congenital disorders, including craniofacial syndroms and skeletal dysplasias. Neurofibromatosis von Recklinghausen; Osteogenesis Imperfecta, and other congential syndromes.
Main research areas
Craniofacial disorders, including on-going research field of the aspects of facial and cranial asymmetry.
Skeletal Dysplasias, In-born connective tissue defects; Neurofibromatosis von Recklinghausen (participation with
Danish Cancer Society Research Center)
Current research
Head of the Nordic database for Rare Disorders, Raredis; Descriptional study on Neurofibromatosis von Recklinghausen (participation with Danish Cancer Society Research Center): aspects of living with NF1.
Potential conflicts of interest
None.
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Collaborations and top research areas from the last five years
Research output
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Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder
Maroni, M. J., Barton, M., Lynch, K., Deshwar, A. R., Campbell, P. D., Millard, J., Lee, R., Cohen, A., Ahmad, R., Paranjapye, A., Faundes, V., Repetto, G. M., McKenna, C., Shillington, A. L., Phornphutkul, C., Hove, H. B., Mancini, G. M. S., Schot, R., Barakat, T. S. & Richmond, C. M. & 34 others, , 8 Jan 2026, In: Brain : a journal of neurology. 149, 1, p. 343-359 17 p.Research output: Contribution to journal › Journal article › Research › peer-review
2 Citations (Scopus) -
Neoplasm risk in individuals with neurofibromatosis 1 – a Danish nationwide cohort study with long-term follow-up
Doherty, M. A., Grell, K., Hove, H., Handrup, M. M., Østergaard, J. R., Krøyer, A., Nielsen, T. T., Hjalgrim, H., Mulvihill, J. J., Wohlfahrt, J., Hasle, H., Ejerskov, C. & Kenborg, L., 20 Feb 2026, In: British Journal of Cancer. 134, 4, p. 618-626 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
1 Citation (Scopus) -
Non-neoplastic causes of death in neurofibromatosis 1: A cohort study with long-term follow-up
Doherty, M. A., Grell, K., Hove, H., Handrup, M. M., Østergaard, J. R., Krøyer, A., Nielsen, T. T., Hjalgrim, H., Mulvihill, J. J., Hasle, H., Ejerskov, C., Wohlfahrt, J. & Kenborg, L., Apr 2026, In: Genetics in medicine : official journal of the American College of Medical Genetics. 28, 4, p. 101654 101654.Research output: Contribution to journal › Journal article › Research › peer-review
1 Citation (Scopus) -
Once-Weekly Navepegritide in Children with Achondroplasia: The APPROACH Randomized Clinical Trial
Savarirayan, R., McDonnell, C., Bacino, C. A., Hoernschemeyer, D. G., Legare, J. M., Abuzzahab, M. J., Hofman, P. L., Campeau, P. M., De Bergua Domingo, J. M., Ward, L. M., Smit, K., Smith, A., Mao, M., Ominsky, M. S., Freiberg, L. C., Shu, A. D. & Hove, H. B., 5 Jan 2026, In: JAMA Pediatrics. 180, 1, p. 18-25 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
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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
Prizes
Activities
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Achondroplasia - an up-date
Hove, H. B. (Lecturer)
21 Jan 2019Activity: Talk or presentation › Lecture and oral contribution
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Prader-Willi syndrom
Hove, H. B. (Lecturer)
6 Apr 2018Activity: Talk or presentation › Lecture and oral contribution
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Nordic Skeletal Dysplasia Symposium
Hove, H. B. (Organizer)
8 Mar 2018 → 9 Mar 2018Activity: Participating in or organising an event › Organisation of and participation in conference
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Nordic network for Rare Disease (External organisation)
Hove, H. B. (Member)
2017 → 2019Activity: Membership › Membership in board of company or public organisation
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4th Nordic Conference on Rare Diseases.
Hove, H. B. (Lecturer)
Sept 2016Activity: Talk or presentation › Lecture and oral contribution