Prenatal diagnosis of aneuploidy and deletion 22q11.2 in fetuses with ultrasound detection of cardiac defects

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

Tamim H. Shaikh · Human Molecular Genetics · 2000 · 531 citations

Life Sciences, Genetics, Molecular Genetics +17

The Philadelphia story: the 22q11.2 deletion: report on 250 patients.

Donna M. McDonald‐McGinn, Richard E. Kirschner, Elizabeth Goldmuntz et al. · PubMed · 1999 · 441 citations

Life Sciences, Genetics, Pediatrics +13

A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.

D.A. Driscoll, Marcia L. Budarf, B S Emanuel · PubMed · 1992 · 425 citations

Life Sciences, Genetics, Molecular Genetics +8

Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net!

Donna M. McDonald‐McGinn, Melissa K. Tonnesen, Ayala Laufer‐Cahana et al. · Genetics in Medicine · 2001 · 317 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

The Velo-Cardio-Facial Syndrome: A Clinical and Genetic Analysis

Robert J. Shprintzen, Rosalie Goldberg, D.G. Young et al. · PEDIATRICS · 1981 · 297 citations

Medicine, Genetics, Pediatrics +17