Claim Your Author Page
Ensure your research is discoverable on Semantic Scholar. Claiming your author page allows you to personalize the information displayed and manage publications.
The MEN2A oncogene encodes for a constitutive active member of the RET receptor tyrosine kinase family. Here, we report that MEN2A-RET activates Signal Transducer and Activator of Transcription 3… (More)
Inherited predisposition to disease is often linked to reduced activity of a disease associated gene product. Thus, quantitation of the influence of inherited variants on gene function can… (More)
Sporadic gastric carcinomas (SGC) with microsatellite instability (MSI) exhibit mutations in target genes and display a particular clinicopathological profile. In SGC the MSI phenotype has been… (More)
We would like to thank the families and clinicians who made the study possible. Support was from the Birth Defects Foundation and the British Heart Foundation (to P.J.S.), Telethon Foundation grant… (More)
Background With next gen sequencing, the human genome can be sequenced in a few weeks and for a few thousand dollars. Capability is no longer the issue: interpretation is. Assembling information to… (More)