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Daniel E McGinn

Explore the profile of Daniel E McGinn including associated specialties, affiliations and a list of published articles. Areas
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21.
Campbell I, Sheppard S, Crowley T, McGinn D, Bailey A, McGinn M, et al.
Am J Med Genet A . 2018 Nov; 176(10):2058-2069. PMID: 30380191
22q11.2 deletion syndrome (22q11.2DS) is a disorder caused by recurrent, chromosome-specific, low copy repeat (LCR)-mediated copy-number losses of chromosome 22q11. The Children's Hospital of Philadelphia has been involved in the...
22.
Homans J, Crowley T, Chen E, McGinn D, Deeney V, Sakkers R, et al.
Am J Med Genet A . 2018 Nov; 176(10):2135-2139. PMID: 30380189
The 22q11.2 Deletion Syndrome (22q11.2DS) occurs in ~1:3,000-6,000 individuals. Features less typically associated with 22q11.2DS, such as orthopedic manifestations, may be overlooked or may not lead to appropriate diagnostic testing....
23.
Cohen J, Crowley T, McGinn D, McDougall C, Unolt M, Lambert M, et al.
Am J Med Genet A . 2018 Sep; 176(10):2203-2214. PMID: 30244528
22q11.2 deletion syndrome (DS) is the most frequent copy number variant (CNV) affecting ~1/1,000 fetuses and ~1/2,000-4,000 children, resulting in recognizable but variable findings across multiple organ systems. Patients with...
24.
Kruszka P, Addissie Y, McGinn D, Porras A, Biggs E, Share M, et al.
Am J Med Genet A . 2017 Mar; 173(4):879-888. PMID: 28328118
22q11.2 deletion syndrome (22q11.2 DS) is the most common microdeletion syndrome and is underdiagnosed in diverse populations. This syndrome has a variable phenotype and affects multiple systems, making early recognition...