Associated Papers
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Mirzaa GM et al.
Nature Communications, 2025
Hemizygous SMARCA1 variants cause X-linked intellectual disability.
Nishimura N et al.
Journal of Human Genetics, 2025
Fibroblast transcriptomics uncovers pathogenic genomic variants in individuals with exome-negative childhood onset epilepsy.
Smal N et al.
Epilepsia, 2025
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Picketts D et al.
Research Square, 2023
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