Concepedia
Statistics
Publications
12
Citations
1K
H-Index
Active since
2002
Affiliations
Duke Medical Center(Current)
University of Glasgow
Greenwood Genetic Center
Mayo Clinic
Glasgow Caledonian University
Marie McDonald is an author at Duke Medical Center specializing in medicine, physical activity, and genetics.
Publications per year
2002–2023
Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients
Regina Ensenauer, Adewale Adeyinka, Heather C. Flynn et al. · The American Journal of Human Genetics · 2003 · 381 citations · Full text
Life Sciences, Genetics, Molecular Genetics +16
Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation
Nathaniel H. Robin, Clare Taylor, Donna M. McDonald‐McGinn et al. · American Journal of Medical Genetics Part A · 2006 · 148 citations · Full text
Medicine, Neurology, Neuroscience +17
Rare Disorders of Metabolism with Elevated Butyryl- and Isobutyryl-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening
Dwight D. Koeberl, Sarah P. Young, Niels Gregersen et al. · Pediatric Research · 2003 · 89 citations
Medicine, Biochemistry, Pediatrics +11
Evaluation of 3‐methylcrotonyl‐CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening
Dwight D. Koeberl, David S. Millington, Wendy E. Smith et al. · Journal of Inherited Metabolic Disease · 2003 · 87 citations
Medicine, Biochemistry, Pediatrics +12
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder
Ning Liu, Kelly Schoch, Xi Luo et al. · Human Molecular Genetics · 2018 · 73 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
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