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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.

The researchers show that a subwavelength film of indium tin oxide, the bulk permittivity of which is strategically modulated via optical pumping, can be dynamically tuned to act as both a non-resonant amplifier and a perfect absorber. The findings extend the concept of coherent perfect absorption to the temporal domain and may enable coherent manipulation of light in Floquet-engineered complex photonic systems.

Plant traits drive ecosystem dynamics yet are challenging to map globally due to sparse measurements. Here, the authors combine crowdsourced biodiversity observations with Earth observation data to accurately map 31 plant traits at 1 km² resolution.

Humanity’s Last Exam, a multi-modal benchmark at the frontier of human knowledge, is designed to be an expert-level closed-ended academic benchmark with broad subject coverage.

Identifying jets originating from heavy quarks plays a fundamental role in hadronic collider experiments. In this work, the ATLAS Collaboration describes and tests a transformer-based neural network architecture for jet flavour tagging based on low-level input and physics-inspired constraints.

In a long-term follow-up of the FAME 2 trial, fractional flow reserve-guided percutaneous coronary intervention plus medical therapy in patients with stable coronary artery disease reduced cardiovascular events compared to medical therapy alone, primarily due to a decrease in urgent revascularization events.

Brain age gaps (BAGs) highlight deviations from healthy brain aging, yet their biophysical underpinnings in aging and dementia are not well understood. Here, the authors use EEG connectivity and generative modeling across diverse populations to reveal that BAGs are influenced by geography, income, sex and education, with implications for understanding accelerated aging and dementia.

In the proof-of-concept phase 2 ROME trial, comprehensive genomic profiling followed by molecular tumor board evaluation and randomization of patients with metastatic solid cancer to receive personalized therapy or standard of care led to a significantly higher objective response rate and longer progression-free survival in patients who received personalized therapy.

Rider, Grantham, Smith, Watson et al. integrate multiomic data from patients with psoriasis using dimensionality reduction and machine learning techniques. This approach identifies biological relationships between genetic background, clinical features and disease severity, providing insight into disease variability across individuals.

The CMS Collaboration reports the measurement of the spin, parity, and charge conjugation properties of all-charm tetraquarks, exotic fleeting particles formed in proton–proton collisions at the Large Hadron Collider.

Chronic care manages long-term, progressive conditions, while acute care handles short-term ones. Here, authors show chronic conditions account for most of the global health burden, with 68% of DALYs and 93% of YLDs attributed to chronic care needs.

Encapsulation of large-size DNA molecules into lipid nanoparticles (LNPs) remains challenging. Here, the authors engineer PEGylated LNPs with DNA and plasma proteins to improve the delivery of large DNA molecules, enhancing the gene therapy potential.

Carty et al. identify the H3K9 methyltransferases that restrict the size and position of the centromere protein A chromatin domain, maintaining functional centromeres.

Impairment at the neuromuscular junction (NMJ) is an early sign of ALS. Here, the authors show that the RNA-binding protein HuD causes NMJ and apoptosis phenotypes in human iPSC and Drosophila ALS models, highlighting a possible role in disease onset.

In this Review, Galli and colleagues discuss the mechanisms and associated biomarkers of traditional and emerging factors responsible for the residual risk of recurrent adverse cardiovascular events in patients with coronary artery disease, with a focus on new pathophysiological insights and the therapeutic implications.

CXCL4 is an inflammatory chemokine signaling through CXCR3 receptor. Here the authors show a CXCR3-independent function of CXCL4: it forms liquid crystals with DNA, potentiating mammalian and bacterial DNA recognition by TLR9, thereby amplifying interferon-a production in systemic sclerosis.

It has been previously shown theoretically that the average path length of random walks inside a closed domain is invariant. Here the authors demonstrate that this invariance property can be used to predict the mean residence time of swimming bacteria exploring structured micro-environments.

Anderson localization is a regime where diffusion is inhibited, leading to the localization of waves. Here, Leonetti et al.use wavefront shaping to achieve focusing in disordered optical fibres in the Anderson regime and demonstrate efficient focusing action.

With over 2,000 newly identified data points, this study estimates 2,525 million m³ of wood fuel removals globally in 2019, approximately 30% higher than previously understood. Global production of wood charcoal is estimated at 70.5 million tonnes, approximately 50% higher than previous values.

In Amyotrophic Lateral Sclerosis (ALS), formation of cytoplasmic inclusions by mutant protein aggregation is observed. Here the authors show that these inclusions dissolve faster when m⁶A RNA modification is inhibited in ALS cellular models.

Levantine Phoenicians made little genetic contribution to Punic settlements in the central and western Mediterranean between the sixth and second centuries bce; instead, the Punic people derived most of their ancestry from a genetic profile similar to that of Sicily and the Aegean, with notable contributions from North Africa as well.

Crystalline materials are formed by the periodic order of atomic unit cells. Here, Pierangeli et al. report the formation of a ferrelectric super-crystal with micrometric unit cell from modulated nanoscale disorder in potassium-lithium-tantalate-niobate, which is potentially useful for engineering ordered states out of disorder.

The quark structure of the f₀(980) hadron is still unknown after 50 years of its discovery. Here, the CMS Collaboration reports a measurement of the elliptic flow of the f₀(980) state in proton-lead collisions at a nucleon-nucleon centre-of-mass energy of 8.16 TeV, providing strong evidence that the state is an ordinary meson.

Characterizing the acoustic dynamics of glasses at mesoscopic wavelengths is challenging. Here, Ferrante et al. use the broadband picosecond acoustics technique to study attenuation at such length scales, where they find temperature-dependent, fractal frequency behaviour.

Water vibrational motion, which occurs on the few-femtosecond timescale and underpins energy transfer within the hydrogen bonding network, has remained challenging to observe in real time due to constraints in time resolution. Here, the authors investigate the ground state vibrational dynamics of liquid water using a sub-5 fs near-infrared pump pulse and few-fs ultraviolet probe pulses, observing rapid dephasing of the OH stretch mode that precedes its relaxation via coupling to the bend modes.

In this Consensus Statement, an international panel of experts present an overview of the latest developments in the field of cholangiocarcinoma. A set of consensus recommendations and research priorities is provided.

Here Leonettiet al. report the observation of single-mode states in the regime of transverse Anderson localization in a disordered optical fibre, with negligible crosstalk accompanied by an inherent resilience to fibre bending and invariance with respect to the launch conditions.

The joint analysis of datasets from NOvA and T2K, the two currently operating long-baseline neutrino oscillation experiments, provides new constraints related to neutrino masses and fundamental symmetries.

Transport of colloidal cargoes to target sites can be done by controlling active carriers, like self-propelled bacteria, under external stimuli. Koumakis et al.show that bacteria can autonomously achieve the same goal when moving over pre-designed asymmetric microstructures.

Small-scale ocean dynamics can have wide reaching impacts on the larger-scale ocean circulation. Using temperature and velocity data, this study shows the presence of abyssal vortices in the Eastern Mediterranean basin, adding complexity to the structure and evolution of water masses in this region.

Creative experiences such as dance, music, drawing, and strategy video games might preserve brain health. The authors show that regular practice or short training in these activities is linked to brains that look younger and work more efficiently.

The spatial scale over which metal–insulator transitions happen is not known, despite the importance of this phenomenon in basic and applied research. The authors show that in chromium-doped V₂O₃, with decreasing temperature, microscopic metallic domains coexist with an insulating background.

Background radiation has been identified as a key factor limiting the coherence times of superconducting circuits. Here, the authors measure the impact of environmental and cosmic radiation on a superconducting resonator with varying degrees of shielding, including an underground facility.

In this Stage 2 Registered Report, Buchanan et al. show evidence confirming the phenomenon of semantic priming across speakers of 19 diverse languages.

This study explores the complex dynamics of slow laboratory earthquakes, revealing how fault structures evolve and influence slow seismic slip. Using a transparent experimental setup and a high-speed camera, real-time deformation and stress redistribution are observed within simulated fault zones made of clay.

Replica symmetry breaking, in which identical systems subject to identical conditions evolve to different end states, has been predicted to occur in many contexts but has yet to be observed experimentally. Ghofraniha et al.report evidence for its occurrence in the pulse-to-pulse variations of a random laser.

Integrated multi-omic analyses using samples from the TRACERx study highlight cross-talk between DNA hypermethylation and genomic lesions in non-small cell lung cancer.

LL37 is an antimicrobial peptide that is overexpressed in skin lesions from psoriasis patients and activates innate immunity. Here the authors show that CD4 and CD8 T cells specific for LL37 are present in the circulation of patients with psoriasis, produce inflammatory cytokines and correlate with disease activity.