20062019
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Fingerprint Dive into the research topics where Maria Kibæk is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 6 Similar Profiles
Mutation Medicine & Life Sciences
spleen exonuclease Medicine & Life Sciences
Muscle Hypotonia Medicine & Life Sciences
Microcephaly Medicine & Life Sciences
De Lange Syndrome Medicine & Life Sciences
Congenital Disorders of Glycosylation Medicine & Life Sciences
Brachial Plexus Neuritis Medicine & Life Sciences
Hereditary Spastic Paraplegia Medicine & Life Sciences

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Research Output 2006 2019

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
46 Downloads (Pure)

Is MED13L-related intellectual disability a recognizable syndrome?

Tørring, P. M., Larsen, M. J., Brasch-Andersen, C., Krogh, L. N., Kibæk, M., Laulund, L., Illum, N., Dunkhase-Heinl, U., Wiesener, A., Popp, B., Marangi, G., Hjortshøj, T. D., Ek, J., Vogel, I., Becher, N., Roos, L., Zollino, M. & Fagerberg, C. R., Feb 2019, In : European Journal of Medical Genetics. 62, 2, p. 129-136

Research output: Contribution to journalJournal articleResearchpeer-review

Open Access
File
Macrostomia
Macroglossia
Language Development Disorders
Foramen Ovale
Exome

Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia

Steenhof, M., Kibæk, M., Larsen, M. J., Christensen, M., Lund, A. M., Brusgaard, K. & Hertz, J. M., Aug 2018, In : Neurogenetics. 19, 3, p. 145–149

Research output: Contribution to journalJournal articleResearchpeer-review

Hereditary Spastic Paraplegia
Amino Acids
Mutation
Ligases
Citrulline
73 Downloads (Pure)

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Deciphering Developmental Disorders Study, 1. Nov 2018, In : American Journal of Human Genetics. 103, 5, p. 666-678

Research output: Contribution to journalJournal articleResearchpeer-review

Open Access
File
Contracture
S 6
R-Type Calcium Channels
Hyperkinesis
Muscle Hypotonia

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

Lardelli, R. M., Schaffer, A. E., Eggens, V. R. C., Zaki, M. S., Grainger, S., Sathe, S., Van Nostrand, E. L., Schlachetzki, Z., Rosti, B., Akizu, N., Scott, E., Silhavy, J. L., Heckman, L. D., Rosti, R. O., Dikoglu, E., Gregor, A., Guemez-Gamboa, A., Musaev, D., Mande, R., Widjaja, A. & 39 others, Shaw, T. L., Markmiller, S., Marin-Valencia, I., Davies, J. H., De Meirleir, L., Kayserili, H., Altunoglu, U., Freckmann, M. L., Warwick, L., Chitayat, D., Blaser, S., Ça Layan, A. O., Bilguvar, K., Per, H., Fagerberg, C., Christesen, H. B. T., Kibæk, M., Aldinger, K. A., Manchester, D., Matsumoto, N., Muramatsu, K., Saitsu, H., Shiina, M., Ogata, K., Foulds, N., Dobyns, W. B., Chi, N. C., Traver, D., Spaccini, L., Bova, S. M., Gabriel, S. B., Gunel, M., Valente, E. M., Nassogne, M. C., Bennett, E. J., Yeo, G. W., Baas, F., Lykke-Andersen, J. & Gleeson, J. G., 2017, In : Nature Genetics. 49, 3, p. 457-464

Research output: Contribution to journalLetterResearchpeer-review

spleen exonuclease
Mutation
Eosinophil Cationic Protein
Disorders of Sex Development
Zebrafish