Publications

CONCLUSIONS: Higher levels of adolescent ADHD symptoms are associated with substance use problems and criminal offending in adulthood. Long-term secondary prevention activities are needed to detect and manage coexisting problems among adults with a history of ADHD.

No abstract

UBR5 encodes an E3 ubiquitin-protein ligase which targets distinct N-terminal residues of proteins for degradation. Heterozygous loss-of-function variants were reported in patients with Autism Spectrum Disorder (ASD) and developmental delay, and recently in a cohort of individuals with neurodevelopmental disorders and variable other features. Here, we report three unrelated individuals with de novo loss-of-function variants in UBR5, presenting with ASD and intellectual disability. We review the...

CONCLUSION: The results suggest that our approach for determining intrafamilial IQ correlation effectively captured the impact of de novo 22q11.2 microdeletion and additive parental background effect on cognitive impairment, consistent with the modest but detectable effect of 15q11.2 deletions. Parental cognitive data could assist with classifying inherited CNVs of unknown significance.

CONCLUSIONS: This work demonstrates the potential of using the chicken cecal microbiome as a model system for investigating the complex metabolic interactions and key contributions that drive community dynamics in the gut. Our model-based predictions offer insights into how keystone taxa like B. fragilis may shape the metabolic landscape and functional organization of microbial communities. The observed metabolic adaptations in the absence of B. fragilis share metabolic similarities with...

CONCLUSIONS: BRAF status can be assessed non-invasively using ML models based on whole-brain FLAIR sequences. Dependence on inconsistent manual or automated segmentations can be reduced by integrating tumor region information into the model through pretraining.

Stem cell niches are complex multi-signalling networks comprised of molecular cues and physical interactions, orchestrated by niche-resident cells and the extracellular factors they produce. The bone niche specifically houses haematopoietic stem cells (HSCs), a critical cell type responsible for producing all blood and immune cells throughout life. Currently, how niches facilitate an ideal environment with simultaneously coordinating both intrinsic and extrinsic cellular signals is unknown....

The cellular origin of intestinal epithelial homeostasis and regeneration has been a subject of continued debate, with recent models challenging the primacy of WNT-dependent Lgr5^(+) crypt base columnar (CBC) cells as the central intestinal stem cell population. Here, we revisit this question through quantitative integration of single-cell transcriptomic, chromatin accessibility, spatial, and lineage-tracing analyses across the proximal-to-distal axis of the small intestinal epithelium. Our data...

Cognitive deficits are common across many neurodevelopmental and psychiatric conditions, including those studied in the current set of PGC-CNV papers. How changes in regional gene expression across the cerebral cortex influence cognitive ability remains unknown. Population variation in gene dosage-which significantly impacts gene expression-represents a unique paradigm to address this question. We developed a cerebral-cortex gene-set burden analysis (CC-GSBA) to associate a trait with genomic...

Biomedical research benefits from the rapid growth and diversity of experimentally detected protein-protein interactions (PPIs) by gaining important biological insights. However, increasingly dense PPI networks can be challenging to interpret and apply. The 2025 update of the Integrated Interactions Database (IID) enhances accessibility and utility through several new features. We identify and incorporate network structural components from co-purified protein sets, as well as curated and...

CONCLUSIONS AND RELEVANCE: In this large, relatively homogeneous cohort of patients with OPSCC, proton therapy was associated with a higher rate of ORN compared with IMRT, particularly in the definitive setting, although high-grade ORN remained uncommon across both modalities. These retrospective findings should be considered exploratory and underscore the need for future hypothesis-driven studies to refine dose constraints and optimize treatment planning to mitigate ORN risk among patients with...

No abstract

Clonal hematopoiesis, through the age-associated accumulation of somatic mutations in blood, is strongly associated with hematological malignancies and other chronic diseases. These mutations have largely been characterized in individuals of European ancestry or environments, and consequently, it remains unclear how mutation-recurrence patterns vary across populations of different histories or non-European ancestries. Here, we evaluate how variation in geography, ancestry, genetics and sex shape...

Pioneer transcription factors act at the top of gene-regulatory networks by promoting accessible chromatin at the cis-regulatory regions that drive gene expression. Despite their ability to bind closed chromatin, pioneer factors occupy distinct binding sites in different tissues. The pioneer factor Zelda promotes the undifferentiated fate in both the early Drosophila embryo and in the neural stem cells (neuroblasts) of the larval brain. Tissue-specific binding by Zelda identifies cell-type...

Hybrid immune individuals who experience an infection after a severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) mRNA vaccine series show evidence of salivary anti-spike and anti-receptor binding domain (RBD) IgA antibodies with broad specificity against different variants. It is unclear how long these antibodies persist and whether they offer protection against new SARS-CoV-2 infections. We compared salivary IgA levels to full-length spike protein and its RBD of the ancestral Wuhan...

BACKGROUND: Tumour-infiltrating immune cells exert both pro-tumour and anti-tumour effects on intracranial tumours. In this study, we investigated the prognostic value of various infiltrating immune cells in medulloblastoma (MB) within a large cohort.

Substituted diphenylamine antioxidants (SDPAs) and synthetic phenolic antioxidants (SPAs), widely used in rubber and consumer products, pose growing environmental concerns. This study evaluated the occurrence and release of 43 SDPAs and 4 SPAs in raw leachate and treated effluent from 18 municipal landfills across China. Results showed 17 SDPAs and 1 SPA (AO4703) were detected in raw leachate. DPG, AO4703, and C8/C8-DPA dominated, accounting for 90.6 ± 5.20 % of total antioxidant concentrations...

Type-II topoisomerases resolve topological stress in DNA through double-strand breaks. While topoisomerases are chemotherapy targets linked to therapy-related genotoxicity, TOP2B is uniquely positioned to influence mutagenesis through its activity in non-dividing cells and sensitivity to topoisomerase poisons. To investigate this, we generated DNA-binding maps of TOP2B, CTCF, and RAD21 in human cancer samples and analyzed these for driver mutations and mutational processes across 6500 whole...

The International Cancer Genome Consortium Accelerating Research in Genomic Oncology (ICGC ARGO) project is an international initiative to sequence germline and tumour genomes from 100,000 cancer patients across 13 countries and 22 tumour types. By integrating genomic data with comprehensive clinical information including treatment outcomes, lifestyle, environmental exposures and family history, ICGC ARGO aims to accelerate the application of genomic insights in cancer diagnosis, treatment and...

No abstract