Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

• Chromatin remodelling subunit SMARCB1 is implicated in dendrite development and complex brain functions

  2026 Acta Neuropathologica Communications article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access

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• Chromatin remodelling subunit SMARCB1 is implicated in dendrite development and complex brain functions

  2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access

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• Novel Findings in Pediatric and Adolescent Patients With Cancer and a Germline SMARCA4 Variant

  2025 Pediatric Blood & Cancer article Biochemistry, Genetics and Molecular Biology Chromatin Remodeling and Cancer Open access

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• Clonazepam repurposing in ARID1B patients through conventional RCT and N-of-1 trials: an experimental strategy for orphan disease development

  2024 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access

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• Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy

  2024 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access

  6

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• ARID1A-BAF coordinates ZIC2 genomic occupancy for epithelial-to-mesenchymal transition in cranial neural crest specification

  2024 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Developmental Biology and Gene Regulation Open access

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• ARID1A-BAF coordinates ZIC2 genomic occupancy for epithelial to mesenchymal transition in cranial neural crest lineage commitment

  2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Developmental Biology and Gene Regulation Open access

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• Clonazepam repurposing in ARID1B patients through conventional RCT and N-of-1 Trials - An experimental strategy for orphan disease development

  2024 Research Square preprint Mathematics Statistical Methods in Clinical Trials Open access

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• ARID1B-related disorder in 87 adults: Natural history and self-sustainability

  2024 Genetics in Medicine Open article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access

  6

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• Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders

  2023 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access

  76

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• Supplementary Appendix 1 from High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer

  2023 supplementary-materials Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access

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• Supplementary Appendix 1 from High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer

  2023 supplementary-materials Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access

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• Recommending revised hepatoblastoma surveillance in children with a pathogenic ARID1A variant. Reply to “Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma” by Cárcamo et al. 2022

  2022 European Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Chromatin Remodeling and Cancer Open access

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• Finding Suitable Clinical Endpoints for a Potential Treatment of a Rare Genetic Disease: the Case of ARID1B

  2020 Neurotherapeutics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access

  13

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14 results