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
Decomposition of phenotypic heterogeneity in autism reveals underlying genetic programs

article Full Text OpenAlex

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization

article Full Text OpenAlex

Ciliary biology intersects autism and congenital heart disease

article Full Text OpenAlex

Evidence That Dmrta2 Acts through Repression ofPax6in Cortical Patterning and Identification of a Mutation Impairing DNA Recognition Associated with Microcephaly in Human

article Full Text OpenAlex

The mitochondrial disease biomarker GDF15 is dynamic, quantifiable in saliva, and correlates with disease severity

article Full Text OpenAlex

Major-depressive-disorder-associated dysregulation of ZBTB7A in orbitofrontal cortex promotes astrocyte-mediated stress susceptibility

article Full Text OpenAlex

CRAMP1 drives linker histone expression to enable Polycomb repression

article Full Text OpenAlex

Copy Number Variant Architecture of Child Psychopathology and Cognitive Development in the ABCD Study

article Full Text OpenAlex

Unravelling axonal transcriptional landscapes: insights from induced pluripotent stem cell-derived cortical neurons and implications for motor neuron degeneration

article Full Text OpenAlex

Glucose-1-phosphate promotes compartmentalization of glycogen with the pentose phosphate pathway in CD8+ memory T cells

article Full Text OpenAlex

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

review Full Text OpenAlex 1946 FWCI89.847

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 1768 FWCI392.762

Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology

review Full Text OpenAlex 1212 FWCI42.601

A saturated map of common genetic variants associated with human height

article Full Text OpenAlex 571 FWCI98.124

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

article Full Text OpenAlex 446 FWCI50.349

Annual Research Review: Shifting from ‘normal science’ to neurodiversity in autism science

review Full Text OpenAlex 435 FWCI12.29

Bi-ancestral depression GWAS in the Million Veteran Program and meta-analysis in >1.2 million individuals highlight new therapeutic directions

review Full Text OpenAlex 344 FWCI12.42

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

article Full Text OpenAlex 340 FWCI63.915

30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?

review Full Text OpenAlex 335 FWCI10.985

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

review Full Text OpenAlex 326 FWCI14.858