Associated Papers
Improving variant interpretation and diagnosis in Koolen-de Vries syndrome through a curated genotype-phenotype repository.
Huang H et al.
Molecular Genetics and Genomics : Mgg, 2025
Clinical and genetic characteristics of a case of Koolen-De Vries syndrome caused by KANSL1 gene mutation and literature review: A case report.
Zhang H et al.
Medicine, 2024
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells.
Awamleh Z et al.
European Journal of Human Genetics : Ejhg, 2024
38282074 (PubMed )
Supplement: 41431_2024_1538_MOESM5_ESM.xlsx › Table_S8
Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia.
Morgan AT et al.
European Journal of Human Genetics : Ejhg, 2018
The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.
Myers KA et al.
Epilepsia, 2017
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.
Koolen DA et al.
European Journal of Human Genetics : Ejhg, 2016
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