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Large-effect variants in autism remain elusive. Here, the authors use long-read sequencing to assemble phased genomes for 189 individuals, identifying pathogenic variants in TBL1XR1, MECP2, and SYNGAP1, plus nine candidate structural variants missed by short-read methods.

Du, Xie, Dai, Jia, et al. assess the role of MEFV variants in Castleman Disease using both in vitro experiments and patient samples. The inflammatory response, scRNA landscape, and high prevalence of MEFV variants propose a critical role for MEFV in Castleman disease.

Liu et al. report Chinese normative lifespan brain charts showing later neurodevelopmental milestones than those detected in Western cohorts. Individual deviations from these norms are valuable in assessing clinical risk and outcomes.

2D diamond is expected to show superior properties compared to bulk diamond, but its synthesis remains challenging. Here, the authors report a high-temperature high-pressure method to fabricate thermally stable 2D diamond via laser-heating of few-layer graphene in a diamond anvil cell, providing relevant insights into the 2D graphene-diamond transformation mechanisms.

The synthesis of functionalized γ-lactams is challenging due to instability of the products and difficulties in controlling diastereoselectivity. Here, the authors report on the design and synthesis of a naphthyl-based pyrene-containing covalent organic framework and utilize it as a heterogeneous photocatalyst for synthesis of γ-lactams.

In this contribution, the authors demonstrate that modifying carbon supports with thiophene-derived sulfur enhances ionomer distribution within fuel cells, thereby achieving remarkably high-power density and platinum utilization—even at an low Pt loading of just 0.125 mgPt cm⁻².

Edge AI systems require high-frequency, temperature-stable entropy sources, which traditional sources fail to provide. Here, the authors experimentally demonstrate a 3D 16-layer Fe-diode array that achieves high efficiency, low energy consumption, and high recognition accuracy.

Controlled nanoscale reduction of graphene oxide could aid the development of graphene-based electronics. Here, a relatively mild technique is reported that uses a platinum-coated atomic force microscope tip to catalyse the reduction of graphene oxide to graphene.

Crystallization of noble metal atoms usually leads to the thermodynamically stable face-centred cubic phase. Sunet al. show that internal strain in silver nanoparticles leads to lattice distortion and a stable body-centred tetragonal phase.

Dynamic kinetic resolution (DKR) allows the conversion of both enantiomers of a racemic mixture into a single enantiomer of product, and requires both a stereoselective reaction and a means of rapidly racemizing the starting materials. Here, a highly stereoselective iridium-catalysed DKR of secondary allylic alcohols is reported, with mechanistic studies implying that substrate racemization is achieved through carbon–oxygen bond cleavage.

IrO2 catalysts typically feature rutile structures with multiple facets. The authors develop an ammonia-induced method to synthesize single-faceted CuO₂ monolayers with the theoretically optimal (101) facet, resulting in high oxygen evolution activity and stability (>10,000 h) in a water electrolyser.

Selective electrochemical water oxidation via a 2e⁻ pathway represents a sustainable H₂O₂ electrosynthesis route. Here, the authors develop an unsaturated coordinative bismuth-benzene tricarboxylic acid metal-organic framework using a hetero-linker doping strategy for high activity and selectivity.

Age-dependent dynamics of gut bacteriome, virome, and antibiotic resistome reveal microbial and pathogenic shifts shaping health in captive koalas.

Xu Tan, Yong Yang and colleagues identify patients with epidermolysis bullosa harboring mutations in KLHL24, which encodes a cullin 3–RBX1 ubiquitin ligase substrate receptor. They find that truncating mutations stabilize the protein by abolishing autoubiquitination, leading to enhanced ubiquitination and degradation of KRT14, the target substrate of KLHL24.

This study reveals that RNA silencing component Argonaute 2 (AGO2) loads small RNAs at endoplasmic reticulum–chloroplast membrane contact sites with the help of RNA helicase 3 (RH3), which also enhances the loading of viral-derived small RNAs. These findings highlight the connections between RNA silencing, viral replication, and plant antiviral resistance.

Genomic, transcriptomic and DNA methylation data from tissue samples from 208 Chinese patients with prostate cancer define the landscape of alterations in this population, and comparison with data from Western cohorts suggests that the disease may stratify into different molecular subtypes.

The authors present a chip-based plasmonic scattering microscope (Chip-PSM) for labelfree imaging of single nanoparticles over a large field-of-view, with isotropic point spread function and high spatial resolution. They demonstrate imaging of diverse nanoparticles, highlighting applications in biological, physical, environmental, and chemical sciences.

Sleep disturbances are highly prevalent in patients with Parkinson’s disease. Here, the authors leverage intracranial recordings in such patients, finding that pathological pallidal activity is present during sleep and associated with sleep disturbance.

Congenital vertebral malformation has a complex genetic architecture that isn’t fully understood. Here, the authors explore the genetic architecture of congenital vertebral malformation through case-control rare variant genetic analyses and embryonic transcriptome analyses of the developing spine.

The counterion-mediated positively charged channels in covalent organic framework membranes enable the fast transport of lithium ions, realizing high lithium/magnesium selectivity without compromising lithium ion flux.

Catheter-based pulmonary artery denervation (PADN) has achieved promising outcomes to treat pulmonary hypertension (PH). Here, the authors show stereotactic body radiotherapy is a novel noninvasive approach for PADN with improved pulmonary hemodynamics in both acute and chronic PH swine models.

Calorimetry is a powerful tool for precise heat measurement at the nanowatt and picowatt scale but is often constrained by high cost and complexity. Here, the authors introduce a flexible printed circuit-based microcalorimeter that enables high-resolution thermal analysis at a lower cost than conventional systems.

Designing reliable, scalable and high speed computing systems remains a challenge. Here, the authors identify noncentrosymmetric orthorhombic phase in HZO film and demonstrate a CMOS compatible 3D Vertical HZO-based ferroelectric diode array with self-selective property and 20 ns of speed operation.

Li et al. find that IFFO1 bridges the core NHEJ factor XRCC4 and lamin A/C, thus reducing the mobility of broken DNA ends to prevent chromosomal translocation in cancer cells.

The nanostructured diamond capsule process with the inert gases solid argon and neon is demonstrated, where the trapped volatile gases could sustain their high-pressure states without confinement of conventional high-pressure vessels, opening up the possibility of in-depth investigations of high-pressure phenomena.

The evolutionarily conserved MTREC complex promotes degradation of meiotic mRNAs and regulatory ncRNAs. Here the authors show that MTREC also targets cryptic unstable transcripts and unspliced pre-mRNAs for degradation by the nuclear exosome, while the TRAMP complex has only a minor role in this process.

The spatial organisation of diffuse midline glioma-H3K27M mutant (DMG) and glioblastoma (GBM) remains to be investigated. Here, the authors integrate short-read and long-read spatial profiling of DMG and GBM to identify regulatory programs and cellular ecosystems in distinct glioma niches.

Conjugates of small-molecule anticancer drugs with a polyzwitterion that has negligible interaction with proteins and a weak interaction with phospholipids eradicate large tumours and patient-derived tumour xenografts in mice.

Plant traits, particularly height and basal diameter, are strong predictors of ecosystem property variations in coastal forests, based on a meta-analysis of global 396 data points and field data in eastern China

Jun Wang and colleagues report the resequencing of six elite maize inbred lines. The authors identified over 1 million SNPs and 30,000 insertion or deletion polymorphisms in this agricultural crop.

Proteomic, transcriptomic, and genomic analysis has shown osteosarcoma (OS) to be a complex and heterogenous disease but revealed little about its carcinogenesis or potential therapeutic targets. Here, the authors profile the RNA interactome, transcriptome and proteome of cells derived from OS patients, identifying a targetable vulnerability to translation inhibition.

Exploration of metastable phases of a given elemental composition is a data-intensive task. Here the authors integrate first-principles atomistic simulations with machine learning and high-performance computing to allow a rapid exploration of the metastable phases of carbon.

Observational analyses from the China Kadoorie Biobank found that alcohol consumption was associated with higher risks of 61 diseases in Chinese men, with most of these associations confirmed by genetic analyses.

Solute transport during rapid and repeated thermal cycles is important in additive manufacturing process. Here, the authors develop a fully-coupled model to rationalise solute transport process, elemental segregation, and non-equilibrium solid/liquid interfacial evolution at sub-grain scale.