Christina Fagerberg

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71 Tidsskriftartikel
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CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
Gehin, C., Lone, M. A., Lee, W., Capolupo, L., Ho, S., Adeyemi, A. M., Gerkes, E. H., Stegmann, A. P., López-Martín, E., Bermejo-Sánchez, E., Martínez-Delgado, B., Zweier, C., Kraus, C., Popp, B., Strehlow, V., Gräfe, D., Knerr, I., Jones, E. R., Zamuner, S., Abriata, L. A., & 65 flereKunnathully, V., Moeller, B. E., Vocat, A., Rommelaere, S., Bocquete, J-P., Ruchti, E., Limoni, G., Van Campenhoudt, M., Bourgeat, S., Henklein, P., Gilissen, C., van Bon, B. W., Pfundt, R., Willemsen, M. H., Schieving, J. H., Leonardi, E., Soli, F., Murgia, A., Guo, H., Zhang, Q., Xia, K., Fagerberg, C. R., Beier, C. P., Larsen, M. J., Valenzuela, I., Fernández-Álvarez, P., Xiong, S., Śmigiel, R., López-González, V., Armengol, L., Morleo, M., Selicorni, A., Torella, A., Blyth, M., Cooper, N. S., Wilson, V., Oegema, R., Herenger, Y., Garde, A., Bruel, A-L., Tran Mau-Them, F., Maddocks, A. B., Bain, J. M., Bhat, M. A., Costain, G., Kannu, P., Marwaha, A., Champaigne, N. L., Friez, M. J., Richardson, E. B., Gowda, V. K., Srinivasan, V. M., Gupta, Y., Lim, T. Y., Sanna-Cherchi, S., Lemaitre, B., Yamaji, T., Hanada, K., Burke, J. E., Jakšić, A. M., McCabe, B. D., De Los Rios, P., Hornemann, T., D'Angelo, G. & Gennarino, V. A., 15. maj 2023, I: The Journal of clinical investigation. 133, 10, e165019.
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease–gene association
Cesana, M., Vaccaro, L., Larsen, M. J., Kibæk, M., Micale, L., Riccardo, S., Annunziata, P., Colantuono, C., Di Filippo, L., De Brasi, D., Castori, M., Fagerberg, C., Acquaviva, F. & Cacchiarelli, D., mar. 2023, I: Human Genetics. 142, 3, s. 343-350
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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Ryanodine receptor 1 related myasthenia like myopathy responsive to pyridostigmine
Lester, E. B., Larsen, M. J., Laulund, L. W., Illum, N., Dunkhase-Heinl, U., Schrøder, H. D. & Fagerberg, C. R., mar. 2023, I: European Journal of Medical Genetics. 66, 3, 104706.
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures
Sølyst, S., Oksjoki, R., Farholt, S., Nielsen, D. G., Christensen, A. H., Fagerberg, C. R., Risom, L., Gregersen, P. A., Christensen, M. B., Rasmussen, T. B. & Diness, B. R., sep. 2022, I: Clinical Genetics. 102, 3, s. 191-200
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder
Melland, H., Bumbak, F., Kolesnik-Taylor, A., Ng-Cordell, E., John, A., Constantinou, P., Joss, S., Larsen, M., Fagerberg, C., Laulund, L. W., Thies, J., Emslie, F., Willemsen, M., Kleefstra, T., Pfundt, R., Barrick, R., Chang, R., Loong, L., Alfadhel, M., van der Smagt, J., & 6 flereNizon, M., Kurian, M., Scott, D. J., Ziarek, J. J., Gordon, S. L. & Baker, K., apr. 2022, I: Genetics in medicine : official journal of the American College of Medical Genetics. 24, 4, s. 880-893
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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Christina Fagerberg

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CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease–gene association

Ryanodine receptor 1 related myasthenia like myopathy responsive to pyridostigmine

Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures

Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder

Christina Fagerberg

Fingeraftryk

Netværk

Publikationer

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease–gene association

Ryanodine receptor 1 related myasthenia like myopathy responsive to pyridostigmine

Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures

Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder