Arid1b haploinsufficiency disrupts cortical interneuron development and mouse behavior

• 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

  0

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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

  3

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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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• Epigenetic function in neurodevelopment and cognitive impairment

  2021 e-Neuroforum article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation

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• Population pharmacokinetics of clonazepam in saliva and plasma: Steps towards noninvasive pharmacokinetic studies in vulnerable populations

  2021 British Journal of Clinical Pharmacology article Medicine Pharmaceutical studies and practices Open access

  11

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• Inability to switch from ARID1A-BAF to ARID1B-BAF impairs exit from pluripotency and commitment towards neural crest formation in ARID1B-related neurodevelopmental disorders

  2021 Nature Communications article Biochemistry, Genetics and Molecular Biology Chromatin Remodeling and Cancer Open access

  43

  citations
• Inability to switch from ARID1A-BAF to ARID1B-BAF impairs exit from pluripotency and commitment towards neural crest formation in ARID1B -related neurodevelopmental disorders

  2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Chromatin Remodeling and Cancer Open access

  1

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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

  citations

9 results