Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease (2006)
Lee, Jennifer A., Inoue, Ken, Cheung, Sau W., Shaw, Chad A., Stankiewicz, Pawel, Lupski, James R.
Genomic architecture, higher order structural features of the human genome, can provide molecular substrates for recurrent sub-microscopic chromosomal rearrangements, or may result in genomic...
Role of Genomic Architecture in PLP1 Duplication Causing Pelizaeus-Merzbacher Disease (2006)
Lee, Jennifer A., Inoue, Ken, Cheung, Sau W., Shaw, Chad A., Stankiewicz, Pawel, Lupski, James R.
Genomic architecture, higher order structural features of the human genome, can provide molecular substrates for recurrent submicroscopic chromosomal rearrangements, or may result in genomic...
Clinical Implementation of Chromosomal Microarray Analysis: Summary of 2513 Postnatal Cases
Lu, Xinyan, Shaw, Chad A., Patel, Ankita, Li, Jiangzhen, Cooper, M. Lance, Wells, William R., ...
Ben-Shachar, Shay, Ou, Zhishuo, Shaw, Chad A., Belmont, John W., Patel, Millan S., Hummel, Marybeth, ...
Microdeletions within chromosome 22q11.2 cause a variable phenotype, including DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). About 97% of patients with DGS/VCFS have either a common...