Associated Papers
Case report and literature review of neurodevelopmental syndrome linked to DOT1L variants.
Caux A et al.
Gene, 2026
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder.
Maroni MJ et al.
Brain : a Journal of Neurology, 2026
40494548 (PubMed )
Supplement: awaf212_supplementary_data.zip › brain-2024-02804-File011.xlsx › S5_Match_Results
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.
Nil Z et al.
American Journal of Human Genetics, 2023
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