Research output per year
Research output per year
Personal profile
Research areas
Epilepsy, autism and intellectual disability
Areas of interest
Epilepsy genetics, epilepsy, intellectual disability, genetics, genetic counselling
Current research
Epilepsy, autism and intellectual disability
Potential conflicts of interest
None
Fingerprint
Dive into the research topics where Katrine M Johannesen is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
- 6 Similar Profiles
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
-
A Novel Case of Biallelic MLH3 Variants in a Patient With Rectal Cancer and Polyps
Johannesen, K. M., Karstensen, J. G., Rasmussen, A. Ø., Scott, E. A. H., Birkedal, U., Hansen, T. V. O., Steenholdt, C. & Jelsig, A. M., Apr 2025, In: Clinical Genetics. 107, 4, p. 480-482 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
-
Differences in manifestations of epilepsy and developmental delay in PURA syndrome and 5q31 microdeletions
Kofoed, A. W. S., Kristiansen, S. S., Miranda, M. J., Rubboli, G. & Johannesen, K. M., 2024, In: Clinical Genetics. 106, 4, p. 386-393 8 p.Research output: Contribution to journal › Review › peer-review
-
Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants
Mohammadi, N. A., Ahring, P. K., Yu Liao, V. W., Chua, H. C., Ortiz de la Rosa, S., Johannesen, K. M., Michaeli-Yossef, Y., Vincent-Devulder, A., Meridda, C., Bruel, A.-L., Rossi, A., Patel, C., Klepper, J., Bonanni, P., Minghetti, S., Trivisano, M., Specchio, N., Amor, D., Auvin, S. & Baer, S. & 12 others, , Aug 2024, In: EBioMedicine. 106, 105236.Research output: Contribution to journal › Journal article › Research › peer-review
-
GABRA1-related disorders: from genetic to functional pathways
Musto, E., Liao, V. W. Y., Johannesen, K. M., Fenger, C. D., Lederer, D., Kothur, K., Fisk, K., Bennetts, B., Vrielynck, P., Delaby, D., Ceulemans, B., Weckhuysen, S., Sparber, P., Bouman, A., Ardern-Holmes, S., Troedson, C., Battaglia, D. I., Goel, H., Feyma, T. & Bakhtiari, S. & 28 others, , Jan 2024, In: Annals of Neurology. 95, 1, p. 27-41 15 p.Research output: Contribution to journal › Journal article › Research › peer-review
-
Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants
Silva, D. B., Trinidad, M., Ljungdahl, A., Revalde, J. L., Berguig, G. Y., Wallace, W., Patrick, C. S., Bomba, L., Arkin, M., Dong, S., Estrada, K., Hutchinson, K., LeBowitz, J. H., Schlessinger, A., Johannesen, K. M., Møller, R. S., Giacomini, K. M., Froelich, S., Sanders, S. J. & Wuster, A., 6 Jun 2024, In: American Journal of Human Genetics. 111, 6, p. 1222-1238 17 p.Research output: Contribution to journal › Journal article › Research › peer-review