Genetics and Neurodevelopmental Disorders
Moving in Neuron.
- Moved this week
- 1
Rebuilt
Moved this week
Latest in Genetics and Neurodevelopmental Disorders
Newest first · last 60 days
Single-cell mapping reveals that 42% of chromosome breaks in human cells occur at common fragile sites, with 58% occurring at rare, replication-timing-dependent regions.
- Open access
HUWE1-HAPSTR1-USP7 complex amplifies ubiquitin chains on nuclear proteins, regulating stress-responsive degradation with a key role in neurodevelopmental disorders and cancer.
Inhibiting the Na+ channel gene Scn9a reduces beta cell loss and diabetes incidence in NOD mice, highlighting its potential as a therapeutic target for type 1 diabetes.
- Open access
- 4 cites
A 2.06 Mb de novo deletion at 17p13.3p13.2 causes progressive neurodevelopmental decline in a Chinese patient with isolated lissencephaly sequence, highlighting PAFAH1B1 haploinsufficiency.
- Open access
Genotype-phenotype relationships in neurodevelopmental disorders are highly complex, with diverse clinical outcomes observed even among individuals with the same risk gene variants.
BRD4 can be recruited into HP1 condensates to activate transcription without removing repressive H3K9me3 marks, revealing a new mechanism of gene desilencing.
A novel GRIA3 splice-site variant causes intellectual disability and psychiatric symptoms, expanding the phenotypic spectrum in an X-linked family.
- Open access
Sex-specific genetic factors influence autism prediction accuracy, with common variants more predictive in males (69%) than females (66%), highlighting biological differences.
- Open access
A +2 reading frame shift in MECP2 C-terminal deletions predicts pathogenicity, with a 10% mutation subset causing Rett syndrome through reduced MeCP2 levels.
- Open access
Follow this area in the app
Browse JClub
Journals this month
- bioRxiv5569
- medRxiv1746
- Environ Res485
- PNAS463
- Sci Adv439
- JAMA255
- Cell Rep210
- BMJ205
- Nat Commun177
- Environ Pollution170
- Lancet149
- Science138
- NEJM119
- Applied & Environ Microbio116
- Curr Biol116
- J Exp Bot115
- mBio109
- Nature104
Moving areas, week to 3 Oct 2026
- Single-cell and spatial transcriptomics10
- Artificial Intelligence in Healthcare and Education8
- CAR-T cell therapy research7
- Neuroinflammation and Neurodegeneration Mechanisms6
- Lung Cancer Treatments and Mutations5
- Diabetes Treatment and Management4
- Pancreatic and Hepatic Oncology Research4
- Photosynthetic Processes and Mechanisms4
- Genomics and Chromatin Dynamics4
- Gut microbiota and health4