Research output per year
Research output per year
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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.
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Research output
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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 others, , Apr 2022, In: Genetics in medicine : official journal of the American College of Medical Genetics. 24, 4, p. 880-893Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile -
Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring
Nagy, D., Verheyen, S., Wigby, K. M., Borovikov, A., Sharkov, A., Slegesky, V., Larson, A., Fagerberg, C., Brasch-Andersen, C., Kibæk, M., Bader, I., Hernan, R., High, F. A., Chung, W. K., Schieving, J. H., Behunova, J., Smogavec, M., Laccone, F., Witsch-Baumgartner, M., Zobel, J. & 2 others, , 15. Jan 2022, In: Genes. 13, 1, 18 p., 154.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile2 Downloads (Pure) -
Mono-allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions
Terkelsen, T., Brasch-Andersen, C., Illum, N., Busa, T., Missirian, C., Chandler, K., Holden, S. T., Jensen, U. B. & Fagerberg, C. R., Feb 2022, In: Clinical Genetics. 101, 2, p. 208-213Research output: Contribution to journal › Journal article › Research › peer-review
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Mutations affecting the N-terminal domains of SHANK3 point to different pathomechanisms in neurodevelopmental disorders
Woike, D., Wang, E., Tibbe, D., Hassani Nia, F., Failla, A. V., Kibæk, M., Overgård, T. M., Larsen, M. J., Fagerberg, C. R., Barsukov, I. & Kreienkamp, H-J., 18. Jan 2022, In: Scientific Reports. 12, 902.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile -
Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans
Qi, C., Feng, I., Costa, A. R., Pinto-Costa, R., Neil, J. E., Caluseriu, O., Li, D., Ganetzky, R. D., Brasch-Andersen, C., Fagerberg, C., Hansen, L. K., Bupp, C., Muraresku, C. C., Ruan, X., Kang, B., Hu, K., Zhong, R., Brites, P., Bhoj, E. J., Hill, R. S. & 6 others, , Feb 2022, In: Genetics in medicine : official journal of the American College of Medical Genetics. 24, 2, p. 319-331 13 p.Research output: Contribution to journal › Journal article › Research › peer-review