Tjitske Kleefstra
Affiliations: | Genetics | Radboudumc |
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Children
Sign in to add traineeKarlijn 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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Borroto MC, Michaud C, Hudon C, et al. (2024) A Genotype/Phenotype Study of -Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants. Genes. 15 |
Rots D, Choufani S, Faundes V, et al. (2024) Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes. American Journal of Human Genetics |
Rots D, Bouman A, Yamada A, et al. (2024) Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome. American Journal of Human Genetics |
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 |