Christina Fagerberg

19992019
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  • 14 Similar Profiles
Mutation Medicine & Life Sciences
Microcephaly Medicine & Life Sciences
Denmark Medicine & Life Sciences
Mosaicism Medicine & Life Sciences
spleen exonuclease Medicine & Life Sciences
Comparative Genomic Hybridization Medicine & Life Sciences
Exome Medicine & Life Sciences
Non-gestational Choriocarcinoma Medicine & Life Sciences

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Research Output 1999 2019

66 Downloads (Pure)

A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: A case report and a review of the literature

Mathorne, S. W., Sørensen, K., Fagerberg, C., Bode, M. & Hertz, J. M., 12. Apr 2019, In : BMC Neurology. 19, 6 p., 60.

Research output: Contribution to journalJournal articleResearchpeer-review

Open Access
File
Platelet-Derived Growth Factor beta Receptor
Mutation
Proto-Oncogene Proteins c-sis
Exome
Amino Acids

Deletions and loss-of-function variants in TP63 associated with orofacial clefting

Khandelwal, K. D., van den Boogaard, M-J. H., Mehrem, S. L., Gebel, J., Fagerberg, C., van Beusekom, E., van Binsbergen, E., Topaloglu, O., Steehouwer, M., Gilissen, C., Ishorst, N., van Rooij, I. A. L. M., Roeleveld, N., Christensen, K., Schoenaers, J., Bergé, S., Murray, J. C., Hens, G., Devriendt, K., Ludwig, K. U. & 6 others, Mangold, E., Hoischen, A., Zhou, H., Dötsch, V., Carels, C. E. L. & van Bokhoven, H., Jul 2019, In : European Journal of Human Genetics. 27, 7, p. 1101-1112

Research output: Contribution to journalJournal articleResearchpeer-review

Alleles
Population Control
Penetrance
Nonsense Codon
Mutant Proteins

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

Haijes, H. A., Koster, M. J. E., Rehmann, H., Li, D., Hakonarson, H., Cappuccio, G., Hancarova, M., Lehalle, D., Reardon, W., Schaefer, G. B., Lehman, A., van de Laar, I. M. B. H., Tesselaar, C. D., Turner, C., Goldenberg, A., Patrier, S., Thevenon, J., Pinelli, M., Brunetti-Pierri, N., Prchalová, D. & 24 others, Havlovicová, M., Vlckova, M., Sedláček, Z., Lopez, E., Ragoussis, V., Pagnamenta, A. T., Kini, U., Vos, H. R., van Es, R. M., van Schaik, R. F. M. A., van Essen, T. A. J., Kibaek, M., Taylor, J. C., Sullivan, J., Shashi, V., Petrovski, S., Fagerberg, C., Martin, D. M., van Gassen, K. L. I., Pfundt, R., Falk, M. J., McCormick, E. M., Timmers, H. T. M. & van Hasselt, P. M., 1. Aug 2019, In : American Journal of Human Genetics. 105, 2, p. 283-301

Research output: Contribution to journalJournal articleResearchpeer-review

Muscle Hypotonia
RNA Polymerase II
HeLa Cells
Saccharomyces cerevisiae
Cell Survival
30 Downloads (Pure)

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

Holt, R. J., Young, R. M., Crespo, B., Ceroni, F., Curry, C. J., Bellacchio, E., Bax, D. A., Ciolfi, A., Simon, M., Fagerberg, C. R., van Binsbergen, E., De Luca, A., Memo, L., Dobyns, W. B., Mohammed, A. A., Clokie, S. J. H., Zazo Seco, C., Jiang, Y. H., Sørensen, K. P., Andersen, H. & 14 others, Sullivan, J., Powis, Z., Chassevent, A., Smith-Hicks, C., Petrovski, S., Antoniadi, T., Shashi, V., Gelb, B. D., Wilson, S. W., Gerrelli, D., Tartaglia, M., Chassaing, N., Calvas, P. & Ragge, N. K., 5. Sep 2019, In : American Journal of Human Genetics. 105, 3, p. 640-657

Research output: Contribution to journalJournal articleResearchpeer-review

Open Access
File
Zebrafish
SKP Cullin F-Box Protein Ligases
Noonan Syndrome
Exome
Limb Buds

Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations

16p11.2 European Consortium, Dunkhase-Heinl, U., Fagerberg, C., Sørensen, K. P. & Kristiansen, B. S., Dec 2019, In : NeuroImage. 203, 7 p., 116155.

Research output: Contribution to journalJournal articleResearchpeer-review

Endophenotypes
Human Genome
Neuroimaging
Mothers
Datasets