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
Loss of the Mecp2 gene in parvalbumin interneurons leads to an inhibitory deficit in the amygdala and affects its functional connectivity

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Annual Research Review: Developmental language disorder – a hidden condition with lifelong impact

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Myocardial reprogramming by HMGN1 underlies heart defects in trisomy 21

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Transcriptional and epigenetic targets of MEF2C in human microglia contribute to cellular functions related to autism risk and age-related disease

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Development of attentional disengagement in typically developing children and children with elevated levels of attentional deficits

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Prolonged psychiatric symptoms revealed as nonconvulsive status epilepticus in ring chromosome 20 syndrome

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Pediatric MASLD in China: epidemiology, screening, diagnosis, and management

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Dysfunction of the rostral lateral septum GABAergic neurons induces mania-like behavior in male mice

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Targeting the BCL2 Family: Advances and Challenges in BH3 Mimetic-Based Therapies

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Decomposition of phenotypic heterogeneity in autism reveals underlying genetic programs

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

review Full Text OpenAlex 2437 FWCI391.02894398

Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years — Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2020

article Full Text OpenAlex 2185 FWCI571.59555465

A saturated map of common genetic variants associated with human height

article Full Text OpenAlex 795 FWCI205.40119988

The global prevalence of autism spectrum disorder: a comprehensive systematic review and meta-analysis

review Full Text OpenAlex 423 FWCI66.45565797

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

article Full Text OpenAlex 397 FWCI63.24523971

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

article Full Text OpenAlex 390 FWCI82.58688625

Universal DNA methylation age across mammalian tissues

article Full Text OpenAlex 332 FWCI61.08556411

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 300 FWCI62.644646

Broad transcriptomic dysregulation occurs across the cerebral cortex in ASD

article Full Text OpenAlex 257 FWCI73.13913693

Epigenetic clock: A promising biomarker and practical tool in aging

review Full Text OpenAlex 251 FWCI31.38263529