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
Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel feature.
St John M et al.
European Journal of Human Genetics : Ejhg, 2023
Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Gibson KM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence.
Keen C et al.
American Journal of Medical Genetics. Part A, 2017
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.
Zollino M et al.
Journal of Medical Genetics, 2015
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