Prenatal sonographic and cytogenetic/molecular findings of 22q11.2 microdeletion syndrome in 48 confirmed cases in a single tertiary center

Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice

Elizabeth A. Lindsay, Francesca Vitelli, Hong Hua Su et al. · Nature · 2001 · 1K citations

Medicine, Genetics, Molecular Genetics +15

Role of TBX1 in human del22q11.2 syndrome

Hisato Yagi, Yoshiyuki Furutani, Hiromichi Hamada et al. · The Lancet · 2003 · 880 citations

Life Sciences, Genetics, Molecular Genetics +3

A Population-Based Study of the 22q11.2 Deletion: Phenotype, Incidence, and Contribution to Major Birth Defects in the Population

Lorenzo D. Botto, Kristin M. May, Paul M. Fernhoff et al. · PEDIATRICS · 2003 · 693 citations

Life Sciences, Genetics, Pediatrics +17

Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

Anne S. Bassett, Donna M. McDonald‐McGinn, Koenraad Devriendt et al. · The Journal of Pediatrics · 2011 · 601 citations · Full text

Medicine, Cardiology, Genetics +15

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