Cascade counselling and testing. Recommendations of the European Society of Human Genetics

de Wert, G., van El, C. G., Clarke, A., Cordier, C., Fellmann, F., Genuardi, M., Hentze, S., Kayserili, H., Macek, M., MacLeod, R., Melegh, B., Mendes, Á., Rial-Sebbag, E., Stefánsdóttir, V., Tranebjærg, L., Ulph, F. & Forzano, F., 2026, In: European Journal of Human Genetics. 34, 2, p. 171-184

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Historien om Jervell og Lange-Nielsens syndrom

Hem, E., Gjesdal, K. T., Tranebjærg, L. & Nylenna, M., 2024, In: Tidsskrift for den Norske Legeforening. 144, 15

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The Wolfram-like variant WFS1^E864K destabilizes MAM and compromises autophagy and mitophagy in human and mice

Patergnani, S., Bataillard, M. S., Danese, A., Alves, S., Cazevieille, C., Valéro, R., Tranebjærg, L., Maurice, T., Pinton, P., Delprat, B. & Richard, E. M., 2024, In: Autophagy. 20, 9, p. 2055-2066 12 p.

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Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

Reurink, J., Weisschuh, N., Garanto, A., Dockery, A., van den Born, L. I., Fajardy, I., Haer-Wigman, L., Kohl, S., Wissinger, B., Farrar, G. J., Ben-Yosef, T., Pfiffner, F. K., Berger, W., Weener, M. E., Dudakova, L., Liskova, P., Sharon, D., Salameh, M., Offenheim, A. & Heon, E. & 30 others, Girotto, G., Gasparini, P., Morgan, A., Bergen, A. A., ten Brink, J. B., Klaver, C. C. W., Tranebjærg, L., Rendtorff, N. D., Vermeer, S., Smits, J. J., Pennings, R. J. E., Aben, M., Oostrik, J., Astuti, G. D. N., Corominas Galbany, J., Kroes, H. Y., Phan, M., van Zelst-Stams, W. A. G., Thiadens, A. A. H. J., Verheij, J. B. G. M., van Schooneveld, M. J., de Bruijn, S. E., Li, C. H. Z., Hoyng, C. B., Gilissen, C., Vissers, L. E. L. M., Cremers, F. P. M., Kremer, H., van Wijk, E. & Roosing, S., 2023, In: Human Genetics and Genomics Advances. 4, 2, 100181.

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A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene

Abdelfatah, N., Mostafa, A. A., French, C. R., Doucette, L. P., Penney, C., Lucas, M. B., Griffin, A., Booth, V., Rowley, C., Besaw, J. E., Tranebjærg, L., Rendtorff, N. D., Hodgkinson, K. A., Little, L. A., Agrawal, S., Parnes, L., Batten, T., Moore, S., Hu, P. & Pater, J. A. & 8 others, Houston, J., Galutira, D., Benteau, T., MacDonald, C., French, D., O’Rielly, D. D., Stanton, S. G. & Young, T. L., 2022, In: Human Genetics. 141, p. 965–979

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Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation

McTiernan, N., Tranebjærg, L., Bjørheim, A. S., Hogue, J. S., Wilson, W. G., Schmidt, B., Boerrigter, M. M., Nybo, M. L., Smeland, M. F., Tümer, Z. & Arnesen, T., 2022, In: Human Genetics. 141, p. 1355–1369

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Congenital Nonprofound Bilateral Sensorineural Hearing Loss in Children: Comprehensive Characterization of Auditory Function and Hearing Aid Benefit

Berninger, E., Drott, M., Romanitan, M., Tranebjærg, L. & Hellström, S., 2022, In: Audiology Research. 12, 5, p. 539-563

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Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients

Rendtorff, N. D., Karstensen, H. G., Lodahl, M., Tolmie, J., McWilliam, C., Bak, M., Tommerup, N., Nazaryan-Petersen, L., Kunst, H., Wong, M., Joss, S., Carelli, V. & Tranebjærg, L., 2022, In: Scientific Reports. 12, 14959.

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