Search results (247)
« Back to PublicationsMolecular dynamics of Brodmann Area 22 in development and autism.
Journal article
Suresh V. et al, (2026), bioRxiv
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.
Journal article
Rius R. et al, (2026), Nat Genet, 58, 761 - 773
Deleterious coding variation associated with autism is shared across ancestries.
Journal article
Natividad Avila M. et al, (2026), Nat Med
Human-specific features of the cerebellum and ZP2-regulated synapse development.
Journal article
Kim S-K. et al, (2026), Cell, 189, 1802 - 1819.e28
Crossing the finish line towards a disease-modifying treatment for Angelman syndrome.
Journal article
Judson MC. et al, (2026), J Neurodev Disord, 18
Targeted BDNF upregulation via upstream open reading frame disruption.
Journal article
Feng N. et al, (2026), Mol Ther, 34, 1652 - 1671
Association of Carboxypeptidase B2 Gene Polymorphisms With Graft Loss in Kidney Transplantation.
Journal article
Poppelaars F. et al, (2026), Transplant Direct, 12
Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort study.
Journal article
Cheerie D. et al, (2026), Genet Med, 28
Publisher Correction: CRISPR activation for SCN2A-related neurodevelopmental disorders.
Journal article
Tamura S. et al, (2026), Nature, 649
Engineered AAV Capsids with Enhanced Extracellular Vesicle Loading via Rational Design and Directed Evolution
Preprint
Vorobieva I. et al, (2025)
Modulating splicing in 5' untranslated regions to treat rare haploinsufficient disease.
Preprint
Beer Wells ES. et al, (2025)
Clinical Manifestations
Journal article
Jung Y. et al, (2025), Alzheimer S Dementia the Journal of the Alzheimer S Association, 21
Common and rare variant genetic contributions in African Americans with autism.
Preprint
Cirnigliaro M. et al, (2025)
Disruption of Cell-Type-Specific Molecular Programs of Medium Spiny Neurons in Autism.
Preprint
Yuan G. et al, (2025)
Accurately modelling RNase H-mediated antisense oligonucleotide efficacy
Preprint
Hill B. et al, (2025)