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
Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy.
Spielmann N et al.
Nature Cardiovascular Research, 2022
39195995 (PubMed )
Supplement: 44161_2022_18_MOESM5_ESM.xlsx › VSD-Genes
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM5_ESM.xlsx › Supplementary_Data_3
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
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Coe BP et al.
Nature Genetics, 2014
25217958 (PubMed )
Supplement: NIHMS622928-supplement-1.pdf
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