No abstract

Patients with chromosomal diseases or microdeletion/microduplication syndromes were diagnosed using a high-resolution genome-wide method. Our study revealed the potential of NGS to facilitate genetic diagnoses that were not evident in the prenatal and postnatal groups.Genet Med 18 9, 940-948.

Mitochondria play a significant role in many cellular processes. Precise long‐term tracking of mitochondrial status and behavior is very important for regulating cell fate and treating mitochondrial diseases. However, developing probes with photostability, long‐term tracking capability, and tunable long‐wavelength fluorescence has been a challenge in mitochondrial targeting. Carbon dots (CDs) as new fluorescent nanomaterials with low toxicity and high stability show increasing advantages in bioimaging. Herein, the mitochondria tracking CDs (MitoTCD) with intrinsic mitochondrial imaging capability and tunable long‐wavelength fluorescence from green to red are synthesized where the lipophilic cation of rhodamine is served as the luminescent center of CDs. Due to the excellent photostability, superior fluorescence properties and favorable biocompatibility, these MitoTCD are successfully used for mitochondrial targeting imaging of HeLa cells in vitro and can be tracked as long as six passages, which is suitable for long‐term cell imaging. Moreover, these MitoTCD can also be used for zebrafish imaging in vivo.