Associated Papers
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.
LaFlamme CW et al.
Nature Communications, 2024
39107278 (PubMed )
Supplement: 41467_2024_50159_MOESM5_ESM.xlsx › SupplementaryData2B
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Weerts MJA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
SETD1B-associated neurodevelopmental disorder.
Roston A et al.
Journal of Medical Genetics, 2021
A genome-wide DNA methylation signature for SETD1B-related syndrome.
Krzyzewska IM et al.
Clinical Epigenetics, 2019
De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences.
Hiraide T et al.
Epilepsia Open, 2019
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