The outbreak of COVID-19 has positively impacted the NGS market recently. Targeted
sequencing (TS) has become an important routine technique in both clinical and research …

The evolutionarily conserved NOTCH signaling displays pleotropic functions in almost every
organ system with a simple signaling axis. Different from many other signaling pathways that …

To enhance phenotype recognition in clinical notes of genetic diseases, we developed two
models—PhenoBCBERT and PhenoGPT—for expanding the vocabularies of Human …

The Notch signaling pathway is a key regulator of skeletal muscle development and
regeneration. Over the past decade, the discoveries of three new muscle disease genes …

The Notch signaling pathway is mainly involved in the regulation of neural stem cell
proliferation, survival and differentiation during the development of the central nervous …

In the last decade, exome and/or genome sequencing has become a common test in the
diagnosis of individuals with features of a rare Mendelian disorder. Despite its success, this …

To build a complex body composed of various cell types and tissues and to maintain tissue
homeostasis in the postembryonic period, animals use a small number of highly conserved …

Neural stem cells (NSCs) are crucial for development, regeneration, and repair of the
nervous system. Most NSCs in mammalian adult brains are quiescent, but in response to …

The corpus callosum is the largest white matter structure connecting the two cerebral
hemispheres. Agenesis of the corpus callosum (ACC), complete or partial, is one of the most …

Metabolic bone diseases is the third most common endocrine diseases after diabetes and
thyroid diseases. More than 500 million people worldwide suffer from metabolic bone …