A single amino acid change in a neuronal ion channel called KCNQ2 blocks ion flow, prevents protein localization on axons, and results in severe epilepsy and slowed neurological development.

Pup-On-target for Small molecule Target Identification Technology, POST-IT, is a revolutionary tool for accurately identifying protein targets of bioactive molecules in living cells and organisms, successfully identifying SEPHS2 and VPS37C as targets for dasatinib and hydroxychloroquine, respectively.

Mutagenizing sequences enriched with promoter motifs creates gene expression de novo, and helps to understand promoter logic, regulatory evolution, and the birth of de novo genes.

Somatic mutations frequently disrupt cleavage and polyadenylation signals in tumour suppressor genes in human cancers, likely contributing to tumour progression.

Analysis of 108 human embryos aged 3–7 weeks reveals modes of primary and secondary neurulation, regulation of body elongation, somite formation rate, and common occurrence of a split neural tube.