Hákon Björn Högnason

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4 Article

Biallelic variants in GTF3C3 encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish
Abdel-Hamid, M. S., Paimboeuf, A., Zaki, M. S., Figueiredo, F., Abdel-Ghafar, S. F., Maher, S., Friðriksdóttir, R., Sulem, P., Högnason, H. B., Hallgrímsdóttir, S., Rojas, C. F. N., Kok, F., Suri, M., Alves, C. A. P. F., Houlden, H., Maroofian, R. & Patten, S. A., 5 Feb 2025, In: Brain Communications. 7, 1, p. fcaf055 fcaf055.
Research output: Contribution to journal › Article › peer-review

Open Access
Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder
Seaby, E. G., Godwin, A., Meyer-Dilhet, G., Clerc, V., Grand, X., Fletcher, T., Monteiro, L., Kerkhofs, M., Carelli, V., Palombo, F., Seri, M., Olivucci, G., Grippa, M., Ciaccio, C., D'Arrigo, S., Iascone, M., Bermudez, M., Fischer, J., Di Donato, N. & Goesswein, S. & 25 others, Leung, M. L., Koboldt, D. C., Myers, C., Arnadottir, G. A., Stefánsson, K., Sulem, P., Goldberg, E. M., Bruel, A.-L., Tran Mau Them, F., Willems, M., Björnsson, H. T., Högnason, H. B., Þórólfsdóttir, E. Þ., Agolini, E., Novelli, A., Zampino, G., Onesimo, R., Lachlan, K., Baralle, D., Rehm, H. L., O'Donnell-Luria, A., Courchet, J., Guille, M., Bourgeois, C. F. & Ennis, S., Apr 2025, In: Brain. 148, 4, p. 1155-1168 14 p.
University of Iceland
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Open Access
Aukin notkun á erfðaheilbrigðisþjónustu á Íslandi árin 2012-2017
Translated title of the contribution: Increased use of genetic health care in Iceland 2012-2017Högnason, H. B., Stefánsdóttir, V. F., Þórólfsdóttir, E. Þ., Jónsson, J. J. & Björnsson, H. T., 4 Jan 2022, In: Læknablaðið. 108, 1, p. 11-16 6 p.
University of Iceland
Research output: Contribution to journal › Article › peer-review

Open Access
Web-based return of BRCA2 research results: one-year genetic counselling experience in Iceland
Stefánsdóttir, V. F., Thorolfsdottir, E., Hognason, H. B., Patch, C., van El, C., Hentze, S., Cordier, C., Mendes, Á. & Jónsson, J. J., Dec 2020, In: European Journal of Human Genetics. 28, 12, p. 1656-1661 6 p.
University of Iceland
Research output: Contribution to journal › Article › peer-review

Högnason Hákon Björn

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Collaborations and top research areas from the last five years

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Biallelic variants in GTF3C3 encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish

Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder

Aukin notkun á erfðaheilbrigðisþjónustu á Íslandi árin 2012-2017

Web-based return of BRCA2 research results: one-year genetic counselling experience in Iceland

Högnason Hákon Björn

Fingerprint

Collaborations and top research areas from the last five years

Research output

Biallelic variants in GTF3C3 encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish

Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder

Aukin notkun á erfðaheilbrigðisþjónustu á Íslandi árin 2012-2017

Web-based return of BRCA2 research results: one-year genetic counselling experience in Iceland