Reclassification of variants of uncertain significance in neonatal genetic diseases: implications from a clinician’s perspective
Yang L, Liu X, Li Z, Zhang P, Wu B, Wang H, et al. Genetic aetiology of early…
One but not the same — the many genomes of the brain
The human brain exhibits enormous complexity, with many thousands of cell types performing specialized functions that provide the…
Deciphering the longitudinal trajectories of glioblastoma ecosystems by integrative single-cell genomics
Experimental method detailsHuman participants and ethical approval Frozen GBM specimens that were diagnosed as ‘glioblastoma, IDH-wildtype’ according to…
The multilayered transcriptional architecture of glioblastoma ecosystems
Participants and ethical approval Frozen GBM specimens, diagnosed as ‘glioblastoma, IDH WT’ according to the WHO 2021 classification,…
Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations
Isogenic model for TP53 mutagenesis by CRISPR-HDR To assess the functional impact of TP53 variants in a controlled…
Human subcutaneous and visceral adipocyte atlases uncover classical and nonclassical adipocytes and depot-specific patterns
Human fat depot-specific adipocyte atlases To generate hSAT and hVAT depot-specific human adipocyte atlases, we performed single-nucleus RNA…
Hemizygous SMARCA1 variants cause X-linked intellectual disability
Schwartz CE, Louie RJ, Toutain A, Skinner C, Friez MJ, Stevenson RE. X-Linked intellectual disability update 2022. Am…
Genetic insights into infertility from large-scale analyses
World Health Organization. Infertility Prevalence Estimates, 1990–2021 (WHO, 2023). Venkatesh, S. S. et al. Nat. Genet. https://doi.org/10.1038/s41588-025-02156-8 (2025).…
GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations
Here, we report variants affecting GJA8 in 22 individuals from 15 new families, including 11 missense variants predicted…
Oryza genome evolution through a tetraploid lens
Tanksley, S. D. & McCouch, S. R. Seed banks and molecular maps: unlocking genetic potential from the wild.…