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
2023 in the European Journal of Human Genetics

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Phenotypic spectrum of dual diagnoses in developmental disorders

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Decoding the genetic landscape of autism: A comprehensive review

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Next‐generation sequencing in pediatric‐onset epilepsies: Analysis with target panels and personalized therapeutic approach

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Deciphering the physiopathology of neurodevelopmental disorders using brain organoids

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ER-associated degradation ligase HRD1 links ER stress to DNA damage repair by modulating the activity of DNA-PKcs

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Scaled and efficient derivation of loss-of-function alleles in risk genes for neurodevelopmental and psychiatric disorders in human iPSCs

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Both GEF domains of the autism and developmental epileptic encephalopathy-associated Trio protein are required for proper tangential migration of GABAergic interneurons

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Identification of novel genomic loci for anxiety symptoms and extensive genetic overlap with psychiatric disorders

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Causal associations and shared genetic etiology of neurodegenerative diseases with epigenetic aging and human longevity

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

review Full Text OpenAlex 2345 FWCI378.82935459

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 2095 FWCI547.85600693

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

review Full Text OpenAlex 1413 FWCI200.89088799

A saturated map of common genetic variants associated with human height

article Full Text OpenAlex 766 FWCI199.53987532

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 552 FWCI81.62947546

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

review Full Text OpenAlex 509 FWCI44.58031456

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

review Full Text OpenAlex 405 FWCI36.39564808

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 399 FWCI55.79262313

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

review Full Text OpenAlex 397 FWCI63.72680245

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

article Full Text OpenAlex 388 FWCI61.9610724