Photo of Kristina Pilekær Sørensen

Kristina Pilekær Sørensen

M.Sc. P.hD.

20092019
If you made any changes in Pure these will be visible here soon.

Fingerprint Dive into the research topics where Kristina Pilekær Sørensen is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 16 Similar Profiles
Long Noncoding RNA Medicine & Life Sciences
RNA Medicine & Life Sciences
Exome Medicine & Life Sciences
Methyl-CpG-Binding Protein 2 Medicine & Life Sciences
Platelet-Derived Growth Factor beta Receptor Medicine & Life Sciences
Rett Syndrome Medicine & Life Sciences
Antisense RNA Medicine & Life Sciences
Microcephaly Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output 2009 2019

32 Downloads (Pure)

A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly

Ree, R., Geithus, A. S., Tørring, P. M., Sørensen, K. P., Damkjær, M., Lynch, S. A. & Arnesen, T., 7. Jun 2019, In : BMC Medical Genetics. 20, 8 p., 101.

Research output: Contribution to journalJournal articleResearchpeer-review

Open Access
File
Microcephaly
Acetylation
Acetyl Coenzyme A
Enzymes and Coenzymes
Exome
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
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

Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

Schönewolf-Greulich, B., Bisgaard, A-M., Dunø, M., Jespersgaard, C., Rokkjaer, M., Hansen, L. K., Tsoutsou, E., Sofokleous, C., Topcu, M., Kaur, S., Van Bergen, N. J., Brøndum-Nielsen, K., Larsen, M. J., Sørensen, K. P., Christodoulou, J., Fagerberg, C. R. & Tümer, Z., Mar 2019, In : Clinical Genetics. 95, 3, p. 403-408

Research output: Contribution to journalJournal articleResearchpeer-review

Methyl-CpG-Binding Protein 2
Rett Syndrome
Mosaicism
Fibroblasts
Exome