Associated Papers
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
40620702 (PubMed )
Supplement: Supplementaryfile1.XLSX › Blad1
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
The molecular basis of phenylalanine hydroxylase deficiency in Croatia.
Zschocke J et al.
Human Mutation, 2003
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