Nanna Dahl Rendtorff

Publikationer pr. år

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Expertise

Genetics; Molecular Biology; Deafness; Hearing Loss; Diagnostics

Aktuel forskning

Identification of novel genes and mechanisms that underlie hearing loss

Fingeraftryk

Dyk ned i forskningsemnerne, hvor Nanna Dahl Rendtorff er aktive. Disse emneetiketter kommer fra dennes persons arbejder. Sammen danner de et unikt fingerprint.

1 Lignende profiler

20 Tidsskriftartikel
3 Andet bidrag
1 Letter

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 flereGirotto, 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., 13 apr. 2023, I: HGG advances. 4, 2, 100181.
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
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 flereHouston, J., Galutira, D., Benteau, T., MacDonald, C., French, D., O'Rielly, D. D., Stanton, S. G. & Young, T-L., apr. 2022, I: Human Genetics. 141, 3-4, s. 965-979 15 s.
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
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., 2 sep. 2022, I: Scientific Reports. 12, 1, 14959.
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
Mutations in BCOR, a co-repressor of CRX/OTX2, are associated with early-onset retinal degeneration
Langouët, M., Jolicoeur, C., Javed, A., Mattar, P., Gearhart, M. D., Daiger, S. P., Bertelsen, M., Tranebjærg, L., Rendtorff, N. D., Grønskov, K., Jespersgaard, C., Chen, R., Sun, Z., Li, H., Alirezaie, N., Majewski, J., Bardwell, V. J., Sui, R., Koenekoop, R. K. & Cayouette, M., 9 sep. 2022, I: Science Advances. 8, 36, s. 1-20 20 s., eabh2868.
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder
Domínguez-Ruiz, M., Rodríguez-Ballesteros, M., Gandía, M., Gómez-Rosas, E., Villamar, M., Scimemi, P., Mancini, P., Rendtorff, N. D., Moreno-Pelayo, M. A., Tranebjaerg, L., Medà, C., Santarelli, R. & Del Castillo, I., 15 jan. 2022, I: Genes. 13, 1, s. 1-12 12 s., 149.
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
2 Citationer (Scopus)

Nanna Dahl Rendtorff

Personlig profil

Expertise

Aktuel forskning

Fingeraftryk

Netværk

Dyk ned i detaljerne

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

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

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

Mutations in BCOR, a co-repressor of CRX/OTX2, are associated with early-onset retinal degeneration

Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder