Genetics and Neurodevelopmental Disorders

Moving in bioRxiv, Stem cell research, Frontiers in Genetics, Nature Communications, Neuron, Trends in Genetics, Communications Biology and Journal of hepatology.

Moved, week to 23 Oct 2026: 0
Papers in 60 days: 36

Add Genetics and Neurodevelopmental Disorders as an interest in JClubFree on iPhone and Android · interests shape Home, Discover and your digest

Rebuilt 23 October 2026 at 3:06 pm AEDT

Moved this week

Everything that moved →

Nothing in this topic has moved yet this week.

Latest in Genetics and Neurodevelopmental Disorders

Newest first · last 60 days

Phase Separation Contributes to Pathogenicity for Nonsense Mediated Decay-Escaping Variant Alleles
medRxiv · 19 Oct 2026 · Preprint
Read the AI summary in JClub
- Open access
Open
Share
Post on X Post on Bluesky Share on LinkedIn
https://jclub.com.au/a/10.64898/2025.12.01.25341387
Open in JClub
Unique Amygdala Signatures and Shared Prefrontal Deficits in Autism: Mapping Social Heterogeneity via Naturalistic functional MRI
bioRxiv · 18 Oct 2026 · Preprint
Read the AI summary in JClub
- Open access
- 1 cites
Open
Share
Post on X Post on Bluesky Share on LinkedIn
https://jclub.com.au/a/10.64898/2026.02.26.708280
Open in JClub
Astrocytic Nonsense-mediated mRNA decay regulates calcium signaling to support synapse function and influence anxiety-like behavior
bioRxiv · 16 Oct 2026 · Preprint
Read the AI summary in JClub
Open
Share
Post on X Post on Bluesky Share on LinkedIn
https://jclub.com.au/a/10.1101/2025.11.18.689044
Open in JClub
Analysis of ribosomes from the Wild-type and FMR1 knockout human embryonic stem cells
bioRxiv · 14 Oct 2026 · Preprint
Read the AI summary in JClub
- Open access
Open
Share
Post on X Post on Bluesky Share on LinkedIn
https://jclub.com.au/a/10.1101/2024.11.18.624098
Open in JClub
Human-specific CCG-repeat insertion in the RBFOX1 promoter implicated in autism and speech enhances EGR1-responsive activity
bioRxiv · 12 Oct 2026 · Preprint
Read the AI summary in JClub
- Open access
- 2 cites
Open
Share
Post on X Post on Bluesky Share on LinkedIn
https://jclub.com.au/a/10.64898/2026.04.21.719679
Open in JClub
Alus harbor genetic variants that shape the human cortex.
Nature Neuroscience · 12 Oct 2026 · Journal Article
Read the AI summary in JClub
Open
Share
Post on X Post on Bluesky Share on LinkedIn
https://jclub.com.au/a/42864447
Open in JClub
p70 ribosomal protein S6 Kinase (p70S6K) as a potential peripheral biomarker for autistic symptoms in 16p11.2 deletion and duplication syndromes
bioRxiv · 12 Oct 2026 · Preprint
Read the AI summary in JClub
- Open access
- 1 cites
Open
Share
Post on X Post on Bluesky Share on LinkedIn
https://jclub.com.au/a/10.64898/2026.02.23.706592
Open in JClub
Retinal cell mosaics in the valproate-induced rat model of autism spectrum disorder
bioRxiv · 8 Oct 2026 · Preprint
Read the AI summary in JClub
- Open access
Open
Share
Post on X Post on Bluesky Share on LinkedIn
https://jclub.com.au/a/10.64898/2026.06.14.732149
Open in JClub
DNMT1 function in cortical PV interneurons modulates cortical network activity, mood disorder‑related behavior, and perineuronal nets.
Communications Biology · 8 Oct 2026 · Journal Article
Loss of DNMT1 in cortical PV interneurons increases PV spiking but reduces inhibitory efficacy, leading to network desynchronization and depression- and anxiety-like behaviors in mice.
- Open access
Open
Share
Post on X Post on Bluesky Share on LinkedIn
https://jclub.com.au/a/42850306
Open in JClub
PTEN Subcellular Localization Dictates Function
bioRxiv · 8 Oct 2026 · Preprint
Read the AI summary in JClub
- Open access
- 1 cites
Open
Share
Post on X Post on Bluesky Share on LinkedIn
https://jclub.com.au/a/10.64898/2026.06.16.732743
Open in JClub
Behavioral phenotypes and neuronal biomarkers in F1 mutant macaque model of SHANK3-associated autism spectrum disorders.
Neuron · 7 Oct 2026 · Journal Article
Heterozygous SHANK3 +/- macaques exhibit sleep disturbances, social interaction changes, stereotypical behaviors, and altered brain connectivity, modeling autism spectrum disorder features.
- 1 cites
Open
Share
Post on X Post on Bluesky Share on LinkedIn
https://jclub.com.au/a/42127910
Open in JClub
Dysregulation of cAMP-PKA-mediated mechanisms disrupts basal synaptic function in the absence of presynaptic FMRP
bioRxiv · 7 Oct 2026 · Preprint
Read the AI summary in JClub
Open
Share
Post on X Post on Bluesky Share on LinkedIn
https://jclub.com.au/a/10.64898/2026.10.01.755951
Open in JClub
Altered Aperiodic EEG Activity in Adolescents with Neurofibromatosis Type 1
bioRxiv · 7 Oct 2026 · Preprint
Read the AI summary in JClub
- Open access
Open
Share
Post on X Post on Bluesky Share on LinkedIn
https://jclub.com.au/a/10.64898/2026.09.28.754984
Open in JClub
Neurocognitive characteristics of perceptual feedback processing differ in autism
bioRxiv · 6 Oct 2026 · Preprint
Read the AI summary in JClub
- Open access
Open
Share
Post on X Post on Bluesky Share on LinkedIn
https://jclub.com.au/a/10.1101/2024.07.23.604831
Open in JClub
Molecular characterization and pathogenicity stratification of YWHAG missense variants in developmental and epileptic encephalopathy.
Frontiers in Genetics · 5 Oct 2026 · Journal Article
MetaSVM, MetaLR, and ESM1b outperform traditional tools in predicting YWHAG missense variant pathogenicity, with MetaSVM showing the best overall performance.
- Open access
Open
Share
Post on X Post on Bluesky Share on LinkedIn
https://jclub.com.au/a/42898427
Open in JClub
Two iPSC lines with frameshift mutations in FTSJ1 as models for X-linked non-syndromic intellectual disability.
Stem cell research · 1 Oct 2026 · Journal Article
Two iPSC lines with FTSJ1 frameshift mutations were created, maintaining pluripotency and differentiation capacity, to model X-linked non-syndromic intellectual disability.
- Open access
Open
Share
Post on X Post on Bluesky Share on LinkedIn
https://jclub.com.au/a/42697162
Open in JClub
Genetic suppressors as new therapeutic targets for Mendelian diseases.
Trends in Genetics · 1 Oct 2026 · Review
Genetic suppressors may provide new therapeutic targets for Mendelian diseases by counteracting disease-causing mutations.
- Open access
Open
Share
Post on X Post on Bluesky Share on LinkedIn
https://jclub.com.au/a/42392954
Open in JClub
An automated machine vision-based index for Rett Syndrome provides a generalizable framework for modeling rare disease therapeutics
bioRxiv · 25 Sept 2026 · Preprint
Read the AI summary in JClub
- Open access
Open
Share
Post on X Post on Bluesky Share on LinkedIn
https://jclub.com.au/a/10.64898/2026.09.21.753377
Open in JClub
Single-cell mapping of chromosome breaks identifies multiple fragile site classes with distinct DNA replication timing landscapes.
Nature Communications · 23 Sept 2026 · Journal Article
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
Open
Share
Post on X Post on Bluesky Share on LinkedIn
https://jclub.com.au/a/42778573
Open in JClub
Chemical genetic screen for substrates of autism risk gene NUAK1 uncovers its role in ARF6 mediated dendritic spine maturation
bioRxiv · 22 Sept 2026 · Preprint
Read the AI summary in JClub
- Open access
Open
Share
Post on X Post on Bluesky Share on LinkedIn
https://jclub.com.au/a/10.64898/2026.04.16.718295
Open in JClub
Molecular mechanism of HUWE1-HAPSTR1-USP7-mediated ubiquitin chain amplification on nuclear proteins.
Molecular Cell · 17 Sept 2026 · Journal Article
HUWE1-HAPSTR1-USP7 complex amplifies ubiquitin chains on nuclear proteins, regulating stress-responsive degradation with a key role in neurodevelopmental disorders and cancer.
Open
Share
Post on X Post on Bluesky Share on LinkedIn
https://jclub.com.au/a/42753704
Open in JClub
Pharmacological or genetic inhibition of Scn9a protects human and mouse beta cells while dampening insulin secretion in type 1 diabetes
bioRxiv · 17 Sept 2026 · Preprint
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
Open
Share
Post on X Post on Bluesky Share on LinkedIn
https://jclub.com.au/a/10.1101/2023.06.11.544521
Open in JClub
Translatome profiling reveals opposing alterations in inhibitory and excitatory neurons of fragile X mice and identifies EPAC2 as a therapeutic target.
Neuron · 16 Sept 2026 · Journal Article
Read the AI summary in JClub
- Open access
- 2 cites
Open
Share
Post on X Post on Bluesky Share on LinkedIn
https://jclub.com.au/a/42155452
Open in JClub
Developmental Dynamics of Phenotypic Architecture in ASD
bioRxiv · 9 Sept 2026 · Preprint
Read the AI summary in JClub
- Open access
Open
Share
Post on X Post on Bluesky Share on LinkedIn
https://jclub.com.au/a/10.64898/2026.05.25.727621
Open in JClub
Genotype-phenotypic correlation in a Chinese patient with isolated lissencephaly sequence caused by 17p13.3p13.2 chromosomal microdeletion: a 6-year follow-up study.
Frontiers in Genetics · 9 Sept 2026 · Journal Article
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
Open
Share
Post on X Post on Bluesky Share on LinkedIn
https://jclub.com.au/a/42775388
Open in JClub
Astrocytic PI3Kα controls synaptic plasticity and cognitive function via serine metabolism.
Nature Communications · 4 Sept 2026 · Journal Article
Read the AI summary in JClub
- Open access
Open
Share
Post on X Post on Bluesky Share on LinkedIn
https://jclub.com.au/a/42834036
Open in JClub
Control of timing and directionality during neurodifferentiation of human induced Pluripotent Stem Cells (iPSC) via miRNA-mediated feedback and feedforward loops.
bioRxiv · 4 Sept 2026 · Preprint
Read the AI summary in JClub
- Open access
Open
Share
Post on X Post on Bluesky Share on LinkedIn
https://jclub.com.au/a/10.1101/2023.10.16.562489
Open in JClub
Generation of a hiPSC from a patient with an ITSN1-associated neurodevelopmental disorder spectrum carrying biallelic c.2893_2894insA (p.Tyr965Ter) genetic variant.
Stem cell research · 1 Sept 2026 · Case Reports
Read the AI summary in JClub
- Open access
Open
Share
Post on X Post on Bluesky Share on LinkedIn
https://jclub.com.au/a/42492410
Open in JClub
Generation of a human induced pluripotent stem cell line (hiPSC) from a patient with DLG4-related synaptopathy (AOUMEYi004-A) and a novel heterozygous de novo nonsense DLG4 variant c.2155A > T p.(Arg719*).
Stem cell research · 1 Sept 2026 · Case Reports
Read the AI summary in JClub
- Open access
Open
Share
Post on X Post on Bluesky Share on LinkedIn
https://jclub.com.au/a/42462545
Open in JClub
BRD4 recruitment into HP1 condensates desilences transcription without erasure of repressive chromatin.
Nature Cell Biology · 1 Sept 2026 · Journal Article
BRD4 can be recruited into HP1 condensates to activate transcription without removing repressive H3K9me3 marks, revealing a new mechanism of gene desilencing.
Open
Share
Post on X Post on Bluesky Share on LinkedIn
https://jclub.com.au/a/42557413
Open in JClub

Add Genetics and Neurodevelopmental Disorders as an interest in JClub

Journals this month

All journals →

Topics moving, week to 23 Oct 2026

All topics →

By field

All journals by field →

Moved this week

Latest in Genetics and Neurodevelopmental Disorders

Browse JClub