Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

• The inactive X chromosome accumulates widespread epigenetic variability with age

  2023 Clinical Epigenetics article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access

  22

  citations
• The inactive X chromosome accumulates widespread epigenetic variability with age

  2023 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access

  1

  citations
• Additional file 2 of The inactive X chromosome accumulates widespread epigenetic variability with age

  2023 Figshare dataset Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access

  0

  citations
• Additional file 3 of The inactive X chromosome accumulates widespread epigenetic variability with age

  2023 Figshare dataset Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access

  0

  citations
• Epigenetic genes and epilepsy — emerging mechanisms and clinical applications

  2022 Nature Reviews Neurology review Medicine Epilepsy research and treatment Open access

  68

  citations
• The Epigenome in Neurodevelopmental Disorders

  2021 Frontiers in Neuroscience article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access

  114

  citations
• A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration

  2021 Scientific Data data-paper Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access

  37

  citations
• Bone fragility in patients affected by congenital diseases non skeletal in origin

  2021 Orphanet Journal of Rare Diseases article Medicine Bone health and osteoporosis research Open access

  12

  citations
• DNA Methylation-Dependent Dysregulation of GABAergic Interneuron Functionality in Neuropsychiatric Diseases

  2020 Frontiers in Neuroscience article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access

  8

  citations
• Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies

  2020 The American Journal of Human Genetics article Medicine Epilepsy research and treatment Open access

  47

  citations

10 results