Researchclopedia

Research Researchers Institutions Topics Submit About

Command Palette

Search for a command to run...

Researchclopedia

Research Researchers Institutions About

© 2026 Researchclopedia. Powered by OpenAlex under CC0 license.

Donna M. McDonald‐McGinn | Researchclopedia

Back to researchers

Donna M. McDonald‐McGinn

Children's Hospital of Philadelphia ORCID

500

Works

29,468

Citations

85

h-index

316

i10-index

Research Topics

Congenital heart defects research Congenital Heart Disease Studies Coronary Artery Anomalies

Affiliations

University of Southern California2018–2018

Oslo University Hospital2021–2021

Seattle Children's Hospital2014–2014

Albert Einstein College of Medicine2017–2021

MACOM (United States)2017–2017

Top Works

22q11.2 deletion syndrome

Donna M. McDonald‐McGinn,Kathleen E. Sullivan,et al.

20152,218 citations

Genomic variations and chromosomal abnormalities

Tracheal and airway disorders

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

Shinji Kondo,Brian C. Schutte,et al.

2002896 citations

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

Maude Schneider,Martin Debbané,et al.

2014815 citations

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Santhosh Girirajan,Jill A. Rosenfeld,et al.

2010671 citations

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

Anne S. Bassett,Donna M. McDonald‐McGinn,et al.

2011598 citations

Frequency of 22q11 deletions in patients with conotruncal defects

Elizabeth Goldmuntz,Bernard J. Clark,et al.

1998587 citations

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

Paweł Stankiewicz,Partha Sen,et al.

2009527 citations

Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)

Donna M. McDonald‐McGinn,Kathleen E. Sullivan

2010518 citations

Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.

Deborah A. Driscoll,J Salvin,et al.

1993488 citations