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.…
Spatial transcriptomics identifies molecular niche dysregulation associated with distal lung remodeling in pulmonary fibrosis
Participants and samples The studies described here comply with ethical regulations as approved under local institutional review boards,…
Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy
More than 4,000 genes have been established as etiological for a rare disease, of which only 69 are…
Pan-genome analysis reveals the evolution and diversity of Malus
The Malus evolutionary genomic landscape We sequenced accessions from 30 species, de novo assembled high-quality genomes and anchored…
Advances in single-cell DNA sequencing enable insights into human somatic mosaicism
Bizzotto, S. et al. Landmarks of human embryonic development inscribed in somatic mutations. Science 371, 1249–1253 (2021). Article …