Zebrafish have become a popular organism for the study of vertebrate gene function 1 , 2 .
The virtually transparent embryos of this species, and the ability to accelerate genetic studies …

Background Human genome sequencing has transformed our understanding of genomic
variation and its relevance to health and disease, and is now starting to enter clinical practice …

During activation, T cells undergo extensive gene expression changes that shape the
properties of cells to exert their effector function. Understanding the regulation of this process …

Histone lysine methyltransferases (KMTs) and demethylases (KDMs) underpin gene regulation.
Here we demonstrate that variants causing haploinsufficiency of KMTs and KDMs are …

… We thank the CRUK Cambridge Institute Genomics core for processing all Cambridge
libraries amd sequencing, and K. Nazor, B. Yeung and TS Huang (BioLegend) for discussions to …

We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals
in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 …

… ERM acknowledges support from NIHR Cambridge Biomedical Research Centre, an NIHR
Senior Investigator Award, and the University of Cambridge has received salary support in …

Tumor cells may share some patterns of gene expression with their cell of origin, providing
clues into the differentiation state and origin of cancer. Here, we study the differentiation state …

Individuals with severe, undiagnosed developmental disorders (DDs) are enriched for damaging
de novo mutations (DNMs) in developmentally important genes. We exome sequenced …

… coli or K. pneumoniae that appeared to lack ESBL or AmpC activity and for which the basis
of growth on the media was not known (Table 2). The Enterobacter cloacae did not contain a …