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Donna M. McDonald‐McGinn | doi.page

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Donna M. McDonald‐McGinn

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

Publications by Year

Research Areas

Congenital heart defects research, Congenital Heart Disease Studies, Coronary Artery Anomalies, Genomic variations and chromosomal abnormalities, Tracheal and airway disorders

Most-Cited Works

→ 22q11.2 deletion syndrome(2015)2,218 cited
→ Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes(2002)896 cited
→ Psychiatric Disorders From Childhood to Adulthood in 22q11.2 Deletion Syndrome: Results From the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome(2014)815 cited
→ A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay(2010)671 cited
→ Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome(2011)598 cited
→ Frequency of 22q11 deletions in patients with conotruncal defects(1998)587 cited

→ Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations(2009)

527 cited

→ Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)(2010)518 cited

→ Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.(1993)488 cited

The Philadelphia story: the 22q11.2 deletion: report on 250 patients.(1999)