Research output per year
Research output per year
Fingerprint
Fingerprints are formed from scientific publications and create an index of weighted keyword concepts for each individual researcher.
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Research output
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CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
Gehin, C., Lone, M. A., Lee, W., Capolupo, L., Ho, S., Adeyemi, A. M., Gerkes, E. H., Stegmann, A. P., López-Martín, E., Bermejo-Sánchez, E., Martínez-Delgado, B., Zweier, C., Kraus, C., Popp, B., Strehlow, V., Gräfe, D., Knerr, I., Jones, E. R., Zamuner, S., Abriata, L. A., & 65 others, 15. May 2023, In: The Journal of clinical investigation. 133, 10, e165019.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile1 Downloads (Pure) -
Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease–gene association
Cesana, M., Vaccaro, L., Larsen, M. J., Kibæk, M., Micale, L., Riccardo, S., Annunziata, P., Colantuono, C., Di Filippo, L., De Brasi, D., Castori, M., Fagerberg, C., Acquaviva, F. & Cacchiarelli, D., Mar 2023, In: Human Genetics. 142, 3, p. 343-350Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile2 Downloads (Pure) -
Ryanodine receptor 1 related myasthenia like myopathy responsive to pyridostigmine
Lester, E. B., Larsen, M. J., Laulund, L. W., Illum, N., Dunkhase-Heinl, U., Schrøder, H. D. & Fagerberg, C. R., Mar 2023, In: European Journal of Medical Genetics. 66, 3, 104706.Research output: Contribution to journal › Journal article › Research › peer-review
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Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures
Sølyst, S., Oksjoki, R., Farholt, S., Nielsen, D. G., Christensen, A. H., Fagerberg, C. R., Risom, L., Gregersen, P. A., Christensen, M. B., Rasmussen, T. B. & Diness, B. R., Sept 2022, In: Clinical Genetics. 102, 3, p. 191-200Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile37 Downloads (Pure) -
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 AccessFile3 Downloads (Pure)