Associated Papers
Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.
Chałupczyńska B et al.
Genes, 2026
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
The same genomic variants in the first three exons of KANSL1 can be either benign or causative of Koolen-de Vries syndrome: Definition of a validation procedure.
L'Erario FF et al.
Genes & Diseases, 2025
40735694 (PubMed )
Supplement: mmc1.docx
Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.
Jiang M et al.
Frontiers in Genetics, 2025
40567897 (PubMed )
Supplement: Supplementaryfile1.xls › Sheet1
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
Genetic Testing for Global Developmental Delay in Early Childhood.
Zhang J et al.
Jama Network Open, 2024
38837156 (PubMed )
Supplement: jamanetwopen-e2415084-s002.xlsx › eTable_2
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_S1
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
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8
Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.
Nair P et al.
Molecular Genetics & Genomic Medicine, 2018
The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.
Myers KA et al.
Epilepsia, 2017
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