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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.

Here authors report 3D printed glass with tunable UV-to-IR emission. The method overcomes thermal limits, integrating various quantum dots into 3D printed complex glass structures to enable advanced photonic functionalities.

Zhang et al. report a strategy of using short chain ligands to simultaneously manipulate the charge transfer dynamics and stabilize the lead bromide octahedra of quasi-2D pure-bromide perovskites, enabling pure-blue LEDs with efficiency of 16.3% and extending the operational lifetime up to 393 mins.

NIID is a neurodegenerative disease caused by GGC repeat expansions within NOTCH2NLC gene. Here, authors develop a precise gene-editing therapy that effectively treats the disease in multiple models.

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.

A large sulfur-bearing carbon ring molecule has been detected in space, 2,5-cyclohexadien-1-thione, using laboratory spectroscopy and a radio telescope. Found near the Galactic Centre, it opens the door to a new family of interstellar molecules.

This study demonstrated that distinct antidepressant therapies act on a common brain network. It explains previous heterogeneous findings across therapies and may be adopted to guide precision repetitive transcranial magnetic stimulation.

Patients with myelodysplastic syndromes (MDS) have limited therapeutic options. Here the authors show that functionally impaired NK cells contribute to immune escape of pre-malignant clones in early stage MDS and that NK adoptive cell therapy can be considered to prevent or delay the development of MDS.

Stone tools illustrate behavioural complexities in Middle Pleistocene hominin populations. Here, the authors present small dimensional flakes and hafted tools from Xigou, central China, dated to ~160–72 thousand years ago that demonstrate early, complex technological advancements.

This study reports that genomic signatures composed of the loss of pluripotency inhibitors, expansion of pluripotency activators and maintenance of an epigenetically permissive state contribute to the plantlet formation in Kalanchoe.

Freezing temperatures often persist over consecutive days in natural environments, yet the duration of frost events has been largely neglected. This study shows that prolonged frost events cause greater declines in forest growth than isolated frost episodes across the Northern Hemisphere.

The presence of EGFR mutations and de novo MET aberrations limited response to EGFR inhibitors in patients with advance non-small cell lung cancer (NSCLC). Here, the authors report a phase 2 randomised clinical trial investigating first-line osimertinib (EGFR inhibitor) plus savolitinib (c-MET inhibitor) in patients with MET-aberrant, EGFR-mutant advanced NSCLC.

Estimates from the Global Burden of Disease study reveal declines in chronic respiratory disease mortality between 1990 and 2023—especially during the COVID-19 pandemic—but the burdens on people affected remain substantial.

cellSTAAR advances noncoding rare variant association analysis by integrating single-cell genomics data.

De novo and inherited dominant variants in genes encoding U4 and U6 small nuclear RNAs are identified in individuals with retinitis pigmentosa. The variants cluster at nucleotide positions distinct from those implicated in neurodevelopmental disorders.

Artificial photobiocatalytic reactions are appealing but sometimes suffer from non-enzymatic side reactions. Now a photoenzyme for enantioselective [2 + 2] photocycloaddition of 2-naphthyl derivatives is reported and combined with designed quenchers that shut down the competing enzyme-free racemic reaction.

An analysis of 24,202 critical cases of COVID-19 identifies potentially druggable targets in inflammatory signalling (JAK1), monocyte–macrophage activation and endothelial permeability (PDE4A), immunometabolism (SLC2A5 and AK5), and host factors required for viral entry and replication (TMPRSS2 and RAB2A).

Myotonic dystrophy type 1 affects both muscle and neuronal function, but its synaptic pathology is poorly understood. Here, the authors show that upregulation of FasII (NCAM1) in both pre- and postsynaptic cells synergistically drives neuropathological and behavioral DM1 phenotypes, which can be rescued by FasII knockdown or specific isoform modulation.

The H9N2 avian influenza viruses (AIVs) remain dominant in live poultry markets in China, and H9N2 AIVs with HA-Q226L, PB2-V/K627 and NP-N52 mutations can be transmitted between guinea pigs and between ferrets via direct contact and respiratory droplet.

The HTLV-1 capsid (CA) domain of Gag was resolved to 3.4 Å resolution and reveals insights into immature lattice stabilization, the varying lattice curvatures and distances from the membrane, and the dispensable nature of inositol hexakisphosphate (IP6) for immature particle assembly.

Using ancient DNA, isotopes and proteomics, this work reveals social inequality and mobility in Eastern Zhou China, showing female sacrifices, dietary disparities across classes, kinship networks among elites, and rare evidence of social mobility.

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.

Previous clinical studies suggested that Insulin-like growth factor binding-protein 7 (IGFBP7) is elevated in early stages of diabetes. Here authors showed tubule and glomerular-specific IGFBP7 promotes diabetic kidney disease.

How inflammation spreads from the skin to the joints in psoriatic disease is unclear. Here, the authors show that joint-resident fibroblasts can control differentiation of infiltrating skin-derived myeloid precursors that can become inflammatory macrophages.

This work presents a compact spectrometer using acoustic Brillouin scattering on a hybrid chip, achieving a 0.56 nm resolution in a 1 mm waveguide without an optical pump.

DNA damage can arise from natural cellular processes, but how cells prevent resulting mutations is unclear. Here, the authors show that the enzyme Polκ protects mouse tissues from mutations caused by endogenous guanine lesions, revealing how DNA repair and damage tolerance pathways cooperate to maintain genome integrity.

This study shows how the links between somatic passenger mutations in tumors and normal cell transcriptomes can be used to infer cell-of-origin in lung adenocarcinoma.

Unprotected β-fluoroamines are important motifs in synthetic chemistry, offering versatility for the development of β-fluorinated nitrogen-containing compounds. Here, the authors disclose an iron-catalyzed three-component aminofluorination of alkenes using a hydroxylamine reagent and Et3N · 3HF, offering a direct entry to unprotected β-fluoroamines.

The advantage of living in cities compared with rural areas with respect to height and BMI in children and adolescents has generally become smaller globally from 1990 to 2020, except in sub-Saharan Africa.

Heat dissipation restricts freshwater production in solar interfacial evaporation. Authors propose a latent heat-assisted evaporative cooling strategy to enhance heat dissipation and vapor transport during condensation, boosting freshwater production.

This study identifies Smoc2 as a marker of mesenchymal stem cells in mouse incisors and shows that Smoc1/2 establishes stem cell quiescence by inhibiting Wnt signaling during development.

Mendelian randomization is used to evaluate genetic associations between multi-organ imaging traits and clinical outcomes, showing genetic links between organ systems in a variety of diseases.

This study presents a multifunctional sensor based on Te nanowires that utilizes the thermo-piezoelectric effect to achieve simultaneous sensing of strain, strain rate, and temperature.

Foundation models enable rapid adaptation to various downstream tasks and are hence about to become a new paradigm in biomedicine. Here, the authors develop LLaVA-Rad, a small AI that bests larger models in chest X-ray interpretation, and CheXprompt, a radiologist-aligned factuality metric, to enable scalable, privacy-preserving image analysis.

Measurements of carbon fluxes and wood phenology are used to assess carbon sources from photosynthesis and their sink into woody growth along a thermal gradient. The authors show that stem growth advances slower than photosynthesis per degree Celsius, creating a phenological mismatch for carbon.

The mitochondrial membranes present a formidable barrier to the delivery of exogenous genes. Here, the authors report on the development of fluorinated lipid nanoparticles to efficiently introduce therapeutic genes into mitochondria, for the correction of mitochondrial genomic defects.

Oncogene-induced senescence (OIS) occurs in premalignant lung adenomas, but infrequently in malignant adenocarcinomas. Here the authors show that USP5-Beclin 1 axis overcomes OIS in Kras-driven lung cancer by enhancing MDM2-mediated p53 degradation.

Meta-analysis of genome-wide association studies on Alzheimer’s disease and related dementias identifies new loci and enables generation of a new genetic risk score associated with the risk of future Alzheimer’s disease and dementia.

Insufficient electron injection remains a limiting factor for the performance of stretchable organic light-emitting diodes. Here designs for both electron transport layer and cathode in stretchable organic light-emitting diodes are reported to achieve efficient electron injection.

Ovarian endometriomas, with distinct microenvironment and heightened hormonal sensitivity, are recognized as precursors of ovarian carcinomas. This study decodes ovarian endometriomas by integrating single-cell and spatial transcriptomics with spatial metabolomics to reveal key markers and altered pathways, offering new avenues for diagnosis and therapy.