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
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Picketts D et al.
Research Square, 2023
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.
Tran Mau-Them F et al.
Molecular Genetics & Genomic Medicine, 2021
34716697 (PubMed )
Supplement: MGG3-9-e1836-s001.xlsx › Feuil1
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