Daniel E McGinn
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Explore the profile of Daniel E McGinn including associated specialties, affiliations and a list of published articles.
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Recent Articles
11.
Campbell I, Crowley T, Jobaliya C, Bailey A, McGinn D, Gaiser K, et al.
Clin Genet
. 2022 Sep;
103(1):109-113.
PMID: 36075864
Prior studies have demonstrated that patients with chromosome 22q11.2 deletion syndrome (22q11.2DS) have lower platelet counts (PC) compared to non-deleted populations. They also have an increased mean platelet volume. The...
12.
Zhang Z, Shi L, Song L, Maurer K, Zhao X, Zackai E, et al.
J Clin Immunol
. 2021 Aug;
41(8):1853-1864.
PMID: 34435264
Purpose: Chromosome 22q11.2 deletion syndrome is a common inborn error of immunity. The early consequences of thymic hypoplasia are low T cell numbers. Later in life, atopy, autoimmunity, inflammation, and...
13.
Gur R, Moore T, Weinberger R, Mekori-Domachevsky E, Gross R, Emanuel B, et al.
Brain Behav
. 2021 Jul;
11(8):e2221.
PMID: 34213087
Intelligence quotient (IQ) testing is standard for evaluating cognitive abilities in genomic studies but requires professional expertise in administration and interpretation, and IQ scores do not translate into insights on...
14.
Crowley T, Campbell I, Liebling E, Lambert M, Katz L, Heimall J, et al.
J Allergy Clin Immunol
. 2021 Jun;
149(1):445-450.
PMID: 34144109
Background: Identification of biomarkers associated with immune-mediated diseases in 22q11.2 deletion syndrome is an evolving field. Objectives: We sought to use a carefully phenotyped cohort to study immune parameters associated...
15.
de Rinaldis C, Butensky A, Patel S, Edman S, Wasserman M, McGinn D, et al.
Pediatr Cardiol
. 2021 Jun;
42(7):1594-1600.
PMID: 34128123
Aortic root dilation (ARD) has been reported in patients with 22q11.2 deletion syndrome (22q11.2DS) with and without congenital heart defects (CHDs). However, the long-term implications of isolated ARD in 22q11.2DS...
16.
Butensky A, de Rinaldis C, Patel S, Edman S, Bailey A, McGinn D, et al.
Am J Med Genet A
. 2020 Dec;
185(3):753-758.
PMID: 33369133
The 22q11.2 duplication syndrome (22q11.2DupS) is characterized by phenotypic heterogeneity, from seemingly asymptomatic to severely affected patients. Our study sought to detail the cardiac phenotype associated with 22q11.2DupS, the prevalence...
17.
Kimia R, Elden L, Dailey J, Kodavatiganti M, Crowley T, McGinn D, et al.
Int J Pediatr Otorhinolaryngol
. 2020 Sep;
138:110236.
PMID: 32890936
Introduction: Patients with 22q11.2 deletion syndrome (22q11.2DS) have a variety of anatomic anomalies. For surgeons operating in proximity to the retropharynx, the most pertinent is medial displacement of the internal...
18.
Solot C, Moore T, Crowley T, Gerdes M, Moss E, McGinn D, et al.
Am J Med Genet B Neuropsychiatr Genet
. 2020 Jul;
183(6):392-400.
PMID: 32715620
The 22q11.2 deletion syndrome (22q11DS) is associated with impaired cognitive functions and increased risk for schizophrenia spectrum disorders. Speech and language deficits are prominent, with evidence of decline anteceding emergence...
19.
Pastor S, Tran O, Jin A, Carrado D, Silva B, Uppuluri L, et al.
Sci Rep
. 2020 Jul;
10(1):12235.
PMID: 32699385
The most prevalent microdeletion in humans occurs at 22q11.2, a region rich in chromosome-specific low copy repeats (LCR22s). The structure of this region has defied elucidation due to its size,...
20.
Cleynen I, Engchuan W, Hestand M, Heung T, Holleman A, Johnston H, et al.
Mol Psychiatry
. 2020 Feb;
26(8):4496-4510.
PMID: 32015465
Schizophrenia occurs in about one in four individuals with 22q11.2 deletion syndrome (22q11.2DS). The aim of this International Brain and Behavior 22q11.2DS Consortium (IBBC) study was to identify genetic factors...