References+(VCFS)

References

1. Emanuel, B. S. (2008). Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements. Developmental Disabilities Research Reviews, 14(1), 11-18. doi: 10.1002/ddrr.3
====2. Fernandez, L., Nevado, J., Santos, F., Heine-Suner, D., Martinez-Glez, V., ...Lapunzina, P. (2009). A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review. BMC Medical Genetics, 48(10). doi: 10.1186/1471-2350-10-48.==== ====3. Friedman, M. A., Miletta, N., Roe, C., Wang, D., Morrow, B. E., Kates, W. R.,. . . Shprintzen, R. J. (2011). Cleft palate, retrognathia and congenital heart disease in velo-cardio-facial syndrome: A phenotype correlation study. International Journal of Pediatric Otorhinolaryngology, 75(9), 1167-1172. doi: 10.1016/j.ijporl.2011.06.013==== ====4. Gennery, A. R. (2012). Immunological aspects of 22q11.2 deletion syndrome. Cellular and Molecular Life Sciences: CMLS, 69(1), 17-27. Retrieved from @http://search.ebscohost.com/login.aspx?direct=true&db=cmedm&AN=21984609&site=eds-live====

6. National Institute of Health. (2007). Genetics Home Reference: TBX1. Retrieved November 20, 2012, from []
====7. Shprintzen, R. J. (2008). Velo-cardio-facial syndrome: 30 years of study. Developmental Disabilities Research Reviews, 14(1), 3-10. Retrieved from @http://search.ebscohost.com/login.aspx?direct=true&db=aph&AN=35418887&site=ehost-live==== ====8. Zweier, C., Sticht, H., Aydin-Yaylagül, I., Campbell, C. E., & Rauch, A. (2007). Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. American Journal of Human Genetics, 80(3), 510-517. doi: 10.1086/511993====

**Bioinformatics Tools Used** 1. __**Geneious**__ - is a DNA, RNA and protein sequence alignment, assembly and analysis software platform, integrating bioinformatic and molecular biology tools into a simple interface.

2. **__Molecule Evolutionary Genetic Analysis (Mega)__** - is an integrated tool for conducting sequence alignment, inferring phylogenetic trees, mining web-based databases, estimating rates of molecular evolution, inferring ancestral sequences, and testing evolutionary hypotheses. MEGA is used by biologists in a large number of laboratories for reconstructing the evolutionary histories of species and inferring the extent and nature of selective forces shaping the evolution of genes and species.

3. __**Online Mendelian Inheritance in Man** **(OMIM)**__ - an online catalog of human genes and genetic disorders.
4. __**Conserved Domain Database (CDD)**__ -is a protein annotation resource that consists of a collection of well-annotated multiple sequence alignment models for ancient domains and full-length proteins. These are available as position-specific score matrices (PSSMs) for fast identification of conserved domains in protein sequences via RPS-BLAST. CDD content includes NCBI-curated domains, which use 3D-structure information to explicitly define domain boundaries and provide insights into sequence/structure/function relationships, as well as domain models imported from a number of external source databases (Pfam, SMART, COG, PRK, TIGRFAM).