R Frank Kooy
Affiliations: | Universiteit Antwerpen (Belgium) |
Area:
Neuroscience BiologyGoogle:
"R Kooy"Mean distance: 53433
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Publications
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| D'Incal CP, Annear DJ, Elinck E, et al. (2024) Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel-Van der Aa syndrome. European Journal of Human Genetics : Ejhg |
| Huyghebaert J, Mateiu L, Elinck E, et al. (2024) Identification of a DLG3 stop mutation in the MRX20 family. European Journal of Human Genetics : Ejhg. 32: 317-323 |
| Annear DJ, Kooy RF. (2023) Unravelling the link between neurodevelopmental disorders and short tandem CGG-repeat expansions. Emerging Topics in Life Sciences |
| Tassone F, Protic D, Allen EG, et al. (2023) Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on Premutation. Cells. 12 |
| Willemsen R, Kooy RF. (2023) Mouse models of fragile X-related disorders. Disease Models & Mechanisms. 16 |
| Annear DJ, Vandeweyer G, Elinck E, et al. (2021) Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease. Scientific Reports. 11: 2515 |
| Garg P, Jadhav B, Rodriguez OL, et al. (2020) A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions. American Journal of Human Genetics |
| Schneeberger PE, Kortüm F, Korenke GC, et al. (2020) Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder. Brain : a Journal of Neurology |
| Grigg I, Ivashko-Pachima Y, Hait TA, et al. (2020) Tauopathy in the young autistic brain: novel biomarker and therapeutic target. Translational Psychiatry. 10: 228 |
| van der Werf IM, Jansen S, de Vries PF, et al. (2020) Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders. European Journal of Human Genetics : Ejhg. 28: 1726-1733 |