Associated Papers
Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.
El Chehadeh S et al.
Genome Medicine, 2025
Report of two children with global developmental delay in association with de novo TLK2 variant and literature review.
Woods E et al.
American Journal of Medical Genetics. Part A, 2022
The Tousled-like kinases regulate genome and epigenome stability: implications in development and disease.
Segura-Bayona S et al.
Cellular and Molecular Life Sciences : Cmls, 2019
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Reijnders MRF et al.
American Journal of Human Genetics, 2018
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