专题：Genetics and Neurodevelopmental Disorders

This cluster of papers focuses on the molecular basis, genetic mutations, and neurological manifestations of Rett syndrome and related disorders such as Fragile X syndrome. It explores the role of MeCP2, synaptic function, autism-like behaviors, and altered brain development in these conditions.
最新文献
Cortical development dynamics across autism spectrum disorder mouse models

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How Environment and Epigenetics Lead to Reduced Self-Regulation and the Development of Related Mental Disorders

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Autism subtypes identified using cross-species functional connectivity analyses

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Unraveling the Genetic and Molecular Architecture of Autism Spectrum Disorder: Implications for Clinical Genetics and Genomic Diagnostics

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The stress responsive transcription factor ATF4: from molecular structure to disease mechanisms

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Trajectory of skill acquisition, loss, and regain in females with classic Rett syndrome

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Expert Consensus on Real‐World Use of Trofinetide for Rett Syndrome Using a Modified Delphi Method

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Modulating alternative splicing of MECP2 is a potential therapeutic strategy for Rett syndrome

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Myelin dysfunction in autism spectrum disorder: insights into core symptoms and mechanisms of brain development

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Anxiety, Depression, and Care Barriers in Adults With Intellectual and Developmental Disabilities

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近5年高被引文献
Global prevalence of autism: A systematic review update

review Full Text OpenAlex 2983 FWCI110.4198

A saturated map of common genetic variants associated with human height

article Full Text OpenAlex 918 FWCI135.0379

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes

article Full Text OpenAlex 475 FWCI40.5279

ILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position statement by the ILAE Task Force on Nosology and Definitions

article Full Text OpenAlex 460 FWCI54.2002

Universal DNA methylation age across mammalian tissues

article Full Text OpenAlex 407 FWCI37.0035

The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission

article Full Text OpenAlex 356 FWCI40.9669

Epigenetic clock: A promising biomarker and practical tool in aging

article Full Text OpenAlex 345 FWCI20.2472

Broad transcriptomic dysregulation occurs across the cerebral cortex in ASD

article Full Text OpenAlex 297 FWCI48.2278

The role of histone modifications: from neurodevelopment to neurodiseases

article Full Text OpenAlex 295 FWCI18.7932

Genomic architecture of autism from comprehensive whole-genome sequence annotation

article Full Text OpenAlex 286 FWCI26.574