Feng Chen

TL;DR: A minimum of 11 transcription units encoded in the minimal DiGeorge critical region (MDGCR) are identified using a combination of methods including cDNA selection, RT-PCR, RACE and genomic sequencing, which may serve as a model for gene identification.

TL;DR: A 1.1-Mb region of human chromosome 22q containing the dosage-sensitive gene(s) responsible for cat eye syndrome as well as the 450-kb homologous region on mouse chromosome 6 is sequenced, and fourteen putative genes were identified within or adjacent to the human CES critical region (CESCR).

TL;DR: The patient's partial DGS/VCFS phenotype suggests that additional features of DIGeorge syndrome/velocardiofacial syndrome may be attributed to other genes in theMDGCR, and haploinsufficiency for more than one gene in the MDGCR may be etiologic for DGS /VCFS.

TL;DR: Mouse genomic DNA sequence extending 634 kb on proximal mouse chromosome 16 was compared to the corresponding human sequence from chromosome 22q11.2 and identified every gene and nearly every exon without the high frequency of false-positive predictions seen when algorithmic methods were used alone.

TL;DR: A physical map of the entire mouse Chr 16/human Chr 22 region of conserved synteny has been constructed to provide a substrate for gene discovery, genomic sequencing, and animal model development.