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
Genetic findings of children with congenital heart diseases using chromosomal microarray and trio-based whole exome sequencing.
Guo R et al.
Scientific Reports, 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
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
Clinical utility of exome sequencing in a pediatric epilepsy cohort.
Graifman JL et al.
Epilepsia, 2023
The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.
Sun J et al.
Genomics, Proteomics & Bioinformatics, 2020
32827758 (PubMed )
Supplement: mmc12.xlsx › Supplementary_table_6
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Miller CR et al.
Cold Spring Harbor Molecular Case Studies, 2020
Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.
Singh R et al.
Plos One, 2020
32492030 (PubMed )
Supplement: pone.0233058.s001.xlsx › RADS33
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
Novel mutations target distinct subgroups of medulloblastoma.
Robinson G et al.
Nature, 2012
22722829 (PubMed )
Supplement: NIHMS374717-supplement-table_5.xlsx › Tier1
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