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
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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.
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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
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Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive
Johannesen, K. M., Aung, K. P., Liao, V. W., Absalom, N. L., Chua, H. C., Gan, X. N., Mao, M., McKenzie, C. E., Lee, H. M., Ortiz, S., Spillmann, R. C., Shashi, V., Radtke, R. A., Mirzaa, G. M., Weisner, P. A., Flores Daboub, J., Hagedorn, C., Bayrak-Toydemir, P., DeMille, D. & Zhao, J. & 31 others, , 16 Jan 2026, In: The Journal of clinical investigation. 136, 2, e189830.Research output: Contribution to journal › Journal article › Research › peer-review
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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
3 Citations (Scopus) -
Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants
Rossi, A., Lin, S. X. N., Absalom, N. L., Ortiz-De la Rosa, S., Liao, V. W. Y., Mohammadi, N. A., Viswanathan, S., Stödberg, T., Danieli, A., Bonanni, P., Aeby, A., Orsini, A., Bonuccelli, A., Rüegger, A., Giraldez, B. G., Isidor, B., Stüve, B., Marini, C., Cesaroni, E. & Fenger, C. D. & 37 others, , 22 Jul 2025, In: Neurology. 105, 2, p. e213644 e213644.Research output: Contribution to journal › Journal article › Research › peer-review
5 Citations (Scopus) -
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
4 Citations (Scopus) -
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
17 Citations (Scopus)