Stephen A. Murray

TL;DR: It is shown that human disease genes are enriched for essential genes, thus providing a dataset that facilitates the prioritization and validation of mutations identified in clinical sequencing efforts and reveals that incomplete penetrance and variable expressivity are common even on a defined genetic background.

TL;DR: It is reported that DNA damage specifically induces p53 phosphorylation on Ser/Thr-Pro motifs, which facilitates its interaction with Pin1, a member of peptidyl-prolyl isomerase, which suggests a mechanism for p53 regulation in cellular response to genotoxic stress.

TL;DR: A large proportion of mammalian traits both in wildtype and mutants are influenced by sex, and this result has implications for interpreting disease phenotypes in animal models and humans.

TL;DR: A high-throughput pipeline is described to extend characterization of cre driver lines to document excision activity in a wide range of tissues at multiple time points and disseminate these data to the scientific community.

TL;DR: Analyzing the first 3,328 genes identified models for 360 diseases, including the first models, to the knowledge, for type C Bernard–Soulier, Bardet–Biedl-5 and Gordon Holmes syndromes, and 90% of phenotype annotations were novel, providing functional evidence for 1,092 genes and candidates in genetically uncharacterized diseases.