Research Output per year
Fingerprint Dive into the research topics where Christina Fagerberg is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
- 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
Network
Recent external collaboration on country level. Dive into details by clicking on the dots.
Research Output 1999 2019
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 journal › Journal article › Research › peer-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, , Jul 2019, In : European Journal of Human Genetics. 27, 7, p. 1101-1112Research output: Contribution to journal › Journal article › Research › peer-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, , 1. Aug 2019, In : American Journal of Human Genetics. 105, 2, p. 283-301Research output: Contribution to journal › Journal article › Research › peer-review
Muscle Hypotonia
RNA Polymerase II
HeLa Cells
Saccharomyces cerevisiae
Cell Survival
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, , 5. Sep 2019, In : American Journal of Human Genetics. 105, 3, p. 640-657Research output: Contribution to journal › Journal article › Research › peer-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 journal › Journal article › Research › peer-review
Endophenotypes
Human Genome
Neuroimaging
Mothers
Datasets