Tina Duelund Hjortshøj

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39 Journal article
2 Report
2 Conference abstract in journal
2 Review
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- 1 Conference abstract for conference

DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals
Sabbagh, Q., Cenni, C., Haghshenas, S., Alessandri, J. L., Bak, M., Bayat, A., Barat-Houari, M., Brusco, A., Busa, T., Calaya, A., Calvert, P., Cormier-Daire, V., Coubes, C., Duffourd, Y., Ferrero, G. B., Guimier, A., Haye, D., Hjortshøj, T. D., Lambert, L. & Larsen, K. B. & 40 others, Lauzon-Young, C., Lesca, G., Chatron, N., Levy, M. A., Lopergolo, D., Margot, H., McConkey, H., Monin, P., Morel, G., Naudion, S., Nizon, M., Odent, S., Pinson, L., Pons, L., Putoux, A., Rio, M., Rossi, M., Rouaux, L., Rouxel, F., Ruiz-Pallares, N., Sanchez, E., Pagano, S., Santorelli, F. M., Sauvestre, C., Schymick, J. C., Siu, V. M., Spodenkiewicz, M., Tedder, M., Tharreau, M., Mau-Them, F. T., Tümer, Z., Valenzuela, I., Van Gils, J., Willems, M., Kirchhoff, A., Krawitz, P., Kerkhof, J., Schuurs-Hoeijmakers, J. H. M., Sadikovic, B. & Geneviève, D., 25 Mar 2026, (E-pub ahead of print) In: European Journal of Human Genetics.
Research output: Contribution to journal › Journal article › Research › peer-review
Non-restrictive cerebral venous dysgenesis in an 11-year-old girl: a case report
Mozaffari, M., Dahl, R. H., Børresen, M. L., Hjortshøj, T. D. & Benndorf, G., May 2026, In: Pediatric Radiology. 56, 5, p. 1189-1195 7 p.
Research output: Contribution to journal › Journal article › Research › peer-review
Novel MYL1 Intron Variant With Expanded Phenotype
Barington, M., Balslev-Harder, M., Krag, T., van Overeem Hansen, T., Wulff, C. B., Lausten-Thomsen, U., Hjortshøj, T. D. & Østergaard, E., Jun 2026, In: American Journal of Medical Genetics. Part A. 200, 6, p. 1378-1383 6 p.
Research output: Contribution to journal › Journal article › Research › peer-review
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder
Efthymiou, S., Leo, C. P., Deng, C., Lin, S.-J., Maroofian, R., Lin, R., Karagoz, I., Zhang, K., Kaiyrzhanov, R., Scardamaglia, A., Owrang, D., Turchetti, V., Jahnke, F., Huang, K., Petree, C., Derrick, A. V., Rees, M. I., Alvi, J. R., Sultan, T. & Li, C. & 80 others, Jacquemont, M.-L., Tran-Mau-Them, F., Valenzuela-Palafoll, M., Sidlow, R., Yoon, G., Morrow, M. M., Carere, D. A., O'Connor, M., Fleischer, J., Gerkes, E. H., Phornphutkul, C., Isidor, B., Rivier-Ringenbach, C., Philippe, C., Kurul, S. H., Soydemir, D., Kara, B., Sunnetci-Akkoyunlu, D., Bothe, V., Platzer, K., Wieczorek, D., Koch-Hogrebe, M., Rahner, N., Thuresson, A.-C., Matsson, H., Frykholm, C., Bozdoğan, S. T., Bisgin, A., Chatron, N., Lesca, G., Cabet, S., Tümer, Z., Hjortshøj, T. D., Rønde, G., Marquardt, T., Reunert, J., Afzal, E., Zamani, M., Azizimalamiri, R., Galehdari, H., Nourbakhsh, P., Chamanrou, N., Chung, S.-K., Suri, M., Benke, P. J., Zaki, M. S., Gleeson, J. G., Calame, D. G., Pehlivan, D., Yilmaz, H. I., Gezdirici, A., Rad, A., Abumansour, I. S., Oprea, G., Bereketoğlu, M. B., Banneau, G., Julia, S., Zeighami, J., Ashoori, S., Shariati, G., Sedaghat, A., Sabri, A., Hamid, M., Parvas, S., Tajudin, T. A., Abdullah, U., Baig, S. M., Chung, W. K., Glazunova, O. O., Sabine, S., Cheema, H. A., Zifarelli, G., Bauer, P., Sidpra, J., Mankad, K., Vona, B., Fry, A. E., Varshney, G. K., Houlden, H. & Fu, D., 1 May 2025, In: American Journal of Human Genetics. 112, 5, p. 1117-1138 22 p.
Research output: Contribution to journal › Journal article › Research › peer-review
6 Citations (Scopus)
Childhood Cancer Predisposition and Evolutionary Constraints: Novel lessons from Germline Genomes from 1,127 Children with Cancer
Stoltze, U. K., Hansen, T. V. O., Foss-Skiftesvik, J., Byrjalsen, A., Henriksen, K. A., Otamendi Laspiur, A., Gerdes, A.-M., Ostrowski, S. R., Sørensen, E., Bak, M., Lautrup, C. K., Grønskov, K., Papaleo, E., Hasle, H., Mikkelsen, T. S., Wehner, P., Saksager, A. B., Andersen, M. K., Kjærsgaard, M. & Hjortshøj, T. D. & 15 others, Frederiksen, J. H., Scheie, D., Olsen, T. E., Tuckuviene, R., Olsen, M., Tümer, Z., Mathiasen, R., Brok, J., Sehested, A., Gorissen, B. L., Rasmussen, S., Karczewski, K. J., Hjalgrim, L. L., Wadt, K. A. W. & Schmiegelow, K., 1 Nov 2025, In: Clinical Cancer Research. 31, 21, p. 4495-4509 15 p.
Research output: Contribution to journal › Journal article › Research › peer-review

OC13.01: Enhancing prenatal risk assessment: atypicality Index (AcFTS) as an adjunct to the combined first trimester screening in dichorionic twins*
Kristensen, S. E. (Lecturer), Ekelund, C. K. (Lecturer), Sandager, P. (Lecturer), Jørgensen, F. S. (Lecturer), Hoseth, E. (Lecturer), Sperling, L. (Lecturer), Zingenberg, H. J. (Lecturer), Hjortshøj, T. D. (Lecturer), Gadsbøll, K. (Lecturer), Wright, A. (Lecturer), Wright, D. (Lecturer), McLennan, A. (Lecturer), Sundberg, K. (Lecturer) & Petersen, O. B. B. (Lecturer)
16 Oct 2023 → 19 Oct 2023
Activity: Talk or presentation › Lecture and oral contribution
OC13.06: Pregnancy outcome following fetal reduction of trichorionic triamniotic triplets: a national Danish register-based study from 2008 to 2018
Kristensen, S. E. (Lecturer), Ekelund, C. K. (Lecturer), Sandager, P. (Lecturer), Jørgensen, F. S. (Lecturer), Hoseth, E. (Lecturer), Sperling, L. (Lecturer), Zingenberg, H. J. (Lecturer), Hjortshøj, T. D. (Lecturer), Gadsbøll, K. (Lecturer), Wright, A. (Lecturer), Wright, D. (Lecturer), McLennan, A. (Lecturer), Sundberg, K. (Lecturer) & Petersen, O. B. B. (Lecturer)
16 Sept 2022 → 18 Sept 2022
Activity: Talk or presentation › Lecture and oral contribution
OC13.09: Pregnancy outcome after fetal reduction of dichorionic triamniotic triplets: a national Danish register-based study from 2008 to 2018
Kristensen, S. E. (Lecturer), Ekelund, C. K. (Lecturer), Sandager, P. (Lecturer), Jørgensen, F. S. (Lecturer), Hoseth, E. (Lecturer), Sperling, L. (Lecturer), Zingenberg, H. J. (Lecturer), Hjortshøj, T. D. (Lecturer), Gadsbøll, K. (Lecturer), Wright, A. (Lecturer), Wright, D. (Lecturer), McLennan, A. (Lecturer), Sundberg, K. (Lecturer) & Petersen, O. B. B. (Lecturer)
16 Sept 2022 → 18 Sept 2022
Activity: Talk or presentation › Lecture and oral contribution

Tina Duelund Hjortshøj

Fingerprint

Collaborations and top research areas from the last five years

Dive into details

DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals

Non-restrictive cerebral venous dysgenesis in an 11-year-old girl: a case report

Novel MYL1 Intron Variant With Expanded Phenotype

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

Childhood Cancer Predisposition and Evolutionary Constraints: Novel lessons from Germline Genomes from 1,127 Children with Cancer

OC13.01: Enhancing prenatal risk assessment: atypicality Index (AcFTS) as an adjunct to the combined first trimester screening in dichorionic twins*

OC13.06: Pregnancy outcome following fetal reduction of trichorionic triamniotic triplets: a national Danish register-based study from 2008 to 2018

OC13.09: Pregnancy outcome after fetal reduction of dichorionic triamniotic triplets: a national Danish register-based study from 2008 to 2018

Tina Duelund Hjortshøj

Fingerprint

Collaborations and top research areas from the last five years

Research output

Activities