From uncertainty to pathogenicity: clinical and functional interrogation of a rare in-frame deletion.

Li-Fraumeni syndrome (LFS) is a highly penetrant cancer predisposition syndrome caused by heterozygous germline mutations in the gene. Although more than 200 missense and null mutations are well established as disease-causing, little is known about the pathogenicity and cancer risks associated with small in-frame deletions. This leads to challenges in variant classification and subsequent difficulty making a molecular diagnosis.

Low-frequency meandering piezoelectric vibration energy harvester.

The design, fabrication, and characterization of a novel low-frequency meandering piezoelectric vibration energy harvester is presented. The energy harvester is designed for sensor node applications where the node targets a width-to-length aspect ratio close to 1:1 while simultaneously achieving a low resonant frequency. The measured power output and normalized power density are 118 μW and 5.