Donna M. McDonald‐McGinn

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

Shinji Kondo, Brian C. Schutte, Rebecca J. Richardson et al. · Nature Genetics · 2002 · 891 citations · Full text

Developmental Anomaly, Popliteal Pterygium Syndromes, Mendelian Disorder +6

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

Santhosh Girirajan, Jill A. Rosenfeld, Gregory M. Cooper et al. · Nature Genetics · 2010 · 669 citations · Full text

Developmental Biology, Two-hit Model, Genetics +8

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 · 596 citations · Full text

Frequency of 22q11 deletions in patients with conotruncal defects

Elizabeth Goldmuntz, Bernard J. Clark, Laura E. Mitchell et al. · Journal of the American College of Cardiology · 1998 · 587 citations · Full text

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, Samarth Bhatt et al. · The American Journal of Human Genetics · 2009 · 513 citations · Full text