Trine Bjørg Hammer

Publikationer pr. år

Expertise

Neurogenetics; neuropsychiatry

Primære forskningsområder

Neuropsychiatry

Aktuel forskning

Neurogenetics

Mulige interessekonflikter

None

Fingeraftryk

Dyk ned i forskningsemnerne, hvor Trine Bjørg Hammer er aktive. Disse emneetiketter kommer fra denne persons arbejder. Sammen danner de et unikt fingerprint.

1 Lignende profiler

19 Tidsskriftartikel
4 Review
1 Ph.d.-afhandling
1 Konferenceabstrakt til konference
Mere
- 1 Letter

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci
Hildonen, M., Ciolfi, A., Ferilli, M., Cappelletti, C., Al Alam, C., Amor, D. J., Barakat, T. S., Benoit, V., Birk, O. S., Callewaert, B., Cazurro-Gutiérrez, A., De Wachter, M., Doco-Fenzy, M., Gómez-Puertas, P., Hammer, T. B., Jamra, R. A., Kaiyrzhanov, R., Kameyama, S., Keren, B. & Kresge, C. & 21 flere, Krey, I., Lederer, D., Marcos-Alcalde, I., Maroofian, R., Matsumoto, N., Mizuguchi, T., Moey, L.-H., Morgan, A., Munell, F., Platzer, K., Pletcher, B. A., Ros-Pardo, D., Rumping, L., Szakszon, K., Van Schil, K., Verdura, E., Vogt, J., Wassmer, E., Zamani, M., Tümer, Z. & Tartaglia, M., 23 maj 2025, (E-pub ahead of print) I: European journal of human genetics : EJHG. 104522.
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder
Elkhateeb, N., Crookes, R., Spiller, M., Pavinato, L., Palermo, F., Brusco, A., Parker, M., Park, S.-M., Mendes, A. C., Saraiva, J. M., Hammer, T. B., Nazaryan-Petersen, L., Barakat, T. S., Wilke, M., Bhoj, E., Ahrens-Nicklas, R. C., Li, D., Nomakuchi, T., Brilstra, E. H. & Hunt, D. & 51 flere, Johnson, D., Mansour, S., Oprych, K., Mehta, S. G., Platzer, K., Schnabel, F., Kiep, H., Faust, H., Prinzing, G., Wiltrout, K., Radley, J. A., Serrano Russi, A. H., Atallah, I., Campos-Xavier, B., Amor, D. J., Morgan, A., Fagerberg, C., Andersen, U. A., Andersen, C. B., Bijlsma, E. K., Bird, L. M., Mullegama, S. V., Green, A., Isidor, B., Cogné, B., Kenny, J., Lynch, S. A., Quin, S., Low, K., Herget, T., Kortüm, F., Levy, R. J., Morrison, J. L., Wheeler, P. G., Narumanch, T. C., Peron, K., Matthews, N., Uhlman, J., Bell, L., Pang, L., Scurr, I., Belles, R. S., Salbert, B. A., Schaefer, G. B., Green, S., Ros, A., Rodríguez-Palmero, A., Višnjar, T., Writzl, K., Vasudevan, P. C. & Balasubramanian, M., 2025, I: Genetics in medicine : official journal of the American College of Medical Genetics. 27, 3, 101348.
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
1 Citationer (Scopus)
Seizure and movement disorder in CACNA1E developmental and epileptic encephalopathy: Two sides of the same coin or same side of two different coins?
Di Micco, V., Affronte, L., Khinchi, M. S., Rønde, G., Miranda, M. J., Hammer, T. B., Specchio, N., Beniczky, S., Olofsson, K., Møller, R. S. & Gardella, E., aug. 2024, I: Epileptic disorders : international epilepsy journal with videotape. 26, 4, s. 520-526 7 s.
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome
Pisan, E., De Luca, C., Brancati, F., Sanchez Russo, R., Li, D., Bhoj, E., Wenger, T., Marwaha, A., Johnson, N., Beneteau, C., Brischoux-Boucher, E., Houge, G., Paulsen, J., Hammer, T. B., Ek, J., Schweitzer, D., Russell, B. E., Dutra-Clarke, M., Nelson, S. & Douine, E. D. & 14 flere, Corona, R. I., Dudding, T., Thomson, H., Low, K., Belnap, N., Iascone, M., Priolo, M., Carli, D., Mussa, A., Bijlsma, E. K., Kopp, N., Jais, J.-P., Amiel, J. & Gordon, C. T., 19 mar. 2024, I: Proceedings of the National Academy of Sciences of the United States of America. 121, 12, e2317601121.
Publikation: Bidrag til tidsskrift › Letter › peer review

1 Citationer (Scopus)
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
Peluso, F., Caraffi, S. G., Contrò, G., Valeri, L., Napoli, M., Carboni, G., Seth, A., Zuntini, R., Coccia, E., Astrea, G., Bisgaard, A.-M., Ivanovski, I., Maitz, S., Brischoux-Boucher, E., Carter, M. T., Dentici, M. L., Devriendt, K., Bellini, M., Digilio, M. C. & Doja, A. & 45 flere, Dyment, D. A., Farholt, S., Ferreira, C. R., Wolfe, L. A., Gahl, W. A., Gnazzo, M., Goel, H., Grønborg, S. W., Hammer, T., Iughetti, L., Kleefstra, T., Koolen, D. A., Lepri, F. R., Lemire, G., Louro, P., McCullagh, G., Madeo, S. F., Milone, A., Milone, R., Nielsen, J. E. K., Novelli, A., Ockeloen, C. W., Pascarella, R., Pippucci, T., Ricca, I., Robertson, S. P., Sawyer, S., Falkenberg Smeland, M., Stegmann, S., Stumpel, C. T., Goel, A., Taylor, J. M., Barbuti, D., Soresina, A., Bedeschi, M. F., Battini, R., Cavalli, A., Fusco, C., Iascone, M., Van Maldergem, L., Venkateswaran, S., Zuffardi, O., Vergano, S., Garavelli, L. & Bayat, A., 27 nov. 2023, I: Journal of Medical Genetics. 60, 12, s. 1224-1234 11 s., jmg-2023-109141.
Publikation: Bidrag til tidsskrift › Review › peer review
7 Citationer (Scopus)

Trine Bjørg Hammer

Personlig profil

Expertise

Primære forskningsområder

Aktuel forskning

Mulige interessekonflikter

Fingeraftryk

Samarbejde og topforskningsområder i de sidste fem år

Dyk ned i detaljerne

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder

Seizure and movement disorder in CACNA1E developmental and epileptic encephalopathy: Two sides of the same coin or same side of two different coins?

The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature