Tjitske Kleefstra

Affiliations: 
Genetics Radboudumc 
Google:
"Tjitske Kleefstra"
Mean distance: (not calculated yet)
 
BETA: Related publications

Publications

You can help our author matching system! If you notice any publications incorrectly attributed to this author, please sign in and mark matches as correct or incorrect.

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
See more...