Description of Research Expertise

22q11.2 deletion syndrome, preterm birth

Selected Publications

Driscoll, D.A., Budarf, M.L., Emanuel, B.S.: A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am. J. Hum. Genet. 50 : 924-933,1992.

Driscoll, D.A., Spinner, N.B., Budarf, M.L., McDonald-McGinn, D.M., Zackai, E.H., Goldberg, R.B., Shprintzen, R.J., Saal, H.M., Zonana, J., Jones, M.C., Mascarello, J.T., Emanuel, B.S.: Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am. J. Med. Genet. 44 : 261-268,1992.

McLean, S.D., Saal, H.M., Spinner, N.B., Emanuel, B.S. and Driscoll, D.A.: Velo-cardio-facial syndrome: Intra-familial variability of the phenotype. Am. J. Dis. Child. 147 : 1212-1216,1993.

Junker A.K. and Driscoll, D.A.: Humoral Immunity in DiGeorge syndrome. J. of Peds 127 : 231-237,1995.

Driscoll, D.A. and Emanuel, B.S.: DiGeorge and velocardiofacial syndrome: the 22q11 deletion syndrome. Mental Retardation and Developmental Disabilities Research Reviews 2 : 130-138,1996.

Goldmuntz E., Clark, B.J., Mitchell, L.E., Jawad, A.F., Reed, L., McDonald-McGinn, DM., Cuneo, B.F., Chien, P., Feuer, J., Zackai, E.H., Emanuel, B.S., Driscoll, D.A.: Frequency of 22q11 deletions in patients with conotruncal defects. J. Am. College of Cardiology 32 : 492-498,1998.

Driscoll DA, Morgan MA, Schulkin J: Screening for Down syndrome: changing practice of obstetricians Am J Obstet Gynecol 200 (459): 2009.

Wapner RJ, Driscoll DA, Simpson JL: Integration of microarray technology into prenatal diagnosis: counseling issues generated during the NICHD clinical trial. Prenat Diagn 32 : 396-400,2012.

Academic Contact Information

Department of Obstetrics and Gynecology
Hospital of the University of Pennsylvania
3400 Spruce Street
Philadelphia, PA 19104-4283
Phone: 215-662-7503
Patient appointments: 800-789-7366