Deborah A. Driscoll
Publications by Year
Research Areas
Congenital heart defects research, Congenital Heart Disease Studies, Tracheal and airway disorders, Genomic variations and chromosomal abnormalities, Prenatal Screening and Diagnostics
Most-Cited Works
- → Evidence for a genetic basis for hyperandrogenemia in polycystic ovary syndrome(1998)700 cited
- → Frequency of 22q11 deletions in patients with conotruncal defects(1998)587 cited
- → Thirty-seven candidate genes for polycystic ovary syndrome: Strongest evidence for linkage is with follistatin(1999)491 cited
- → Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.(1993)488 cited
- → Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel(2004)475 cited
- The Philadelphia story: the 22q11.2 deletion: report on 250 patients.(1999)
- → Deletions and microdeletions of 22q11.2 in velo‐cardio‐facial syndrome(1992)387 cited
- → Human steroidogenic acute regulatory protein: functional activity in COS-1 cells, tissue-specific expression, and mapping of the structural gene to 8p11.2 and a pseudogene to chromosome 13.(1995)386 cited
- → Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net!(2001)316 cited
- → Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern(1999)309 cited