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Beverly S. Emanuel

Children's Hospital of Philadelphia(US)University of Pennsylvania(US)

Publications by Year

Research Areas

Congenital heart defects research, Genomic variations and chromosomal abnormalities, Congenital Heart Disease Studies, Coronary Artery Anomalies, Chromosomal and Genetic Variations

Most-Cited Works

→ 22q11.2 deletion syndrome(2015)2,218 cited
→ Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma(1993)900 cited
→ Frequency of 22q11 deletions in patients with conotruncal defects(1998)587 cited
→ Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma(1993)558 cited
→ Localization of gene for human p53 tumour antigen to band 17p13(1986)492 cited
→ Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.(1993)488 cited

→ Deletions and microdeletions of 22q11.2 in velo‐cardio‐facial syndrome(1992)

387 cited

→ Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net!(2001)316 cited

→ VEGF: A modifier of the del22q11 (DiGeorge) syndrome?(2003)310 cited

→ Chromosomal mapping of the human catechol-O-methyltransferase gene to 22q11.1→q11.2(1992)296 cited