Tjitske Kleefstra
Affiliations: | Genetics | Radboudumc |
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Children
Sign in to add trainee| Karlijn Vermeulen | grad student | 2018 | Radboudumc, Genetics |
| Linde C.M. van Dongen | grad student | 2016-2020 | Radboudumc |
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Publications
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| Dingemans AJM, Jansen S, van Reeuwijk J, et al. (2024) Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals. Nature Medicine |
| van der Laan L, Lauffer P, Rooney K, et al. (2024) DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants. Hgg Advances. 100289 |
| Rots D, Rooney K, Relator R, et al. (2024) Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile. Clinical Genetics |
| Paulet A, Bennett-Ness C, Ageorges F, et al. (2024) Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study. European Journal of Human Genetics : Ejhg |
| Ng R, Harris J, Kleefstra T, et al. (2023) Editorial: Characterizing the neurobehavioral phenotype of mendelian disorders of epigenetic machinery. Frontiers in Genetics. 14: 1338078 |
| Dingemans AJM, Hinne M, Truijen KMG, et al. (2023) PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework. Nature Genetics |
| de Boer E, Marcelis C, Neveling K, et al. (2023) A complex structural variant near causes X-linked split-hand/foot malformation. Hgg Advances. 4: 100200 |
| Rots D, Jakub TE, Keung C, et al. (2023) The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder. American Journal of Human Genetics |
| Rossi A, Blok LS, Neuser S, et al. (2023) POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum. Clinical Genetics |
| Burger P, Colin F, Strehle A, et al. (2022) GenIDA: an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disorders. Journal of Neural Transmission (Vienna, Austria : 1996). 1-13 |