Richard T. Wang

TL;DR: In this rare disease cohort with a wide spectrum of undiagnosed, suspected genetic conditions, RNAseq analysis increased the molecular diagnostic rate above that possible with genome sequencing analysis alone even without availability of the most appropriate tissue type to assess.

TL;DR: The radiation hybrid (RH) network constitutes a platform for understanding the systems biology of the mammalian cell and did not show a scale-free distribution of connectivity but was Gaussian-like, suggesting a closer approach to saturation.

TL;DR: A small-molecule screen to identify existing drugs that enhance antisense-directed exon skipping found that dantrolene promoted exon 23 skipping in cells from mdx mice (a mouse model of muscular dystrophy) and exon 51 skipping in patient fibroblasts induced to form myotubes.

TL;DR: The ability of NGM technology to detect pathogenic structural variants otherwise missed by PCR-based techniques or chromosomal microarrays is showed, indicating NGM is poised to become a new tool in the clinical genetic diagnostic strategy and research due to its ability to sensitively identify large genomic variations.

TL;DR: The evolving clinical effectiveness of a developing program can be quantified by using a sequential group comparison design and the sequential outcome improvements may be related to the incremental contributions of assertive case management and skills training for relapse prevention.