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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24
Citations
246
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Recent Articles
1.
Arganbright J, Crowley T, Tracy M, Noel-MacDonnell J, Gaiser K, Yaktine L, et al.
Laryngoscope
. 2024 Sep;
135(2):929-934.
PMID: 39305214
Objectives: Hearing loss is considered common in children with 22q11.2 deletion syndrome (22q11.2DS), with a few prior studies reporting a 32%-78% prevalence; mild-moderate conductive hearing loss has been reported most...
2.
Muraresku C, McCormick E, Rockart L, Crowley T, Asher S, Back A, et al.
Genes (Basel)
. 2024 Jul;
15(7).
PMID: 39062646
Purpose: Genetic counselors (GCs) increasingly play key roles in advancing genomic medicine through innovative research. Here, we examine one large cohort of GCs' evolving contributions to the literature, with the...
3.
Roalf D, McDonald-McGinn D, Jee J, Krall M, Crowley T, Moberg P, et al.
J Neurodev Disord
. 2024 Jun;
16(1):35.
PMID: 38918700
Background: Minor physical anomalies (MPAs) are congenital morphological abnormalities linked to disruptions of fetal development. MPAs are common in 22q11.2 deletion syndrome (22q11DS) and psychosis spectrum disorders (PS) and likely...
4.
Freud L, Galloway S, Crowley T, Moldenhauer J, Swillen A, Breckpot J, et al.
Am J Obstet Gynecol
. 2023 Sep;
230(3):368.e1-368.e12.
PMID: 37717890
Background: The 22q11.2 deletion syndrome is the most common microdeletion syndrome and is frequently associated with congenital heart disease. Prenatal diagnosis of 22q11.2 deletion syndrome is increasingly offered. It is...
5.
Zhao Y, Wang Y, Shi L, McDonald-McGinn D, Crowley T, McGinn D, et al.
NPJ Genom Med
. 2023 Jul;
8(1):17.
PMID: 37463940
Congenital heart disease (CHD) affecting the conotruncal region of the heart, occurs in 40-50% of patients with 22q11.2 deletion syndrome (22q11.2DS). This syndrome is a rare disorder with relative genetic...
6.
Gur R, McDonald-McGinn D, Moore T, Gallagher R, McClellan E, White L, et al.
Psychol Med
. 2023 Mar;
53(14):6763-6772.
PMID: 36987693
Background: Neuropsychiatric disorders are common in 22q11.2 Deletion Syndrome (22q11DS) with about 25% of affected individuals developing schizophrenia spectrum disorders by young adulthood. Longitudinal evaluation of psychosis spectrum features and...
7.
Smyk M, Geremek M, Ziemkiewicz K, Gambin T, Kutkowska-Kazmierczak A, Kowalczyk K, et al.
Genes (Basel)
. 2023 Mar;
14(3).
PMID: 36980952
22q11.2 deletion syndrome (22q11.2DS) is the most common genomic disorder with an extremely broad phenotypic spectrum. The aim of our study was to investigate how often the additional variants in...
8.
Bhattarai D, McGinn D, Crowley T, Giunta V, Gaiser K, Zackai E, et al.
J Clin Immunol
. 2023 Feb;
43(4):794-807.
PMID: 36735193
Purpose: Duplication of chromosome 22q11.2 due to meiotic non-allelic homologous recombination results in a distinct syndrome, chromosome 22q11.2 duplication syndrome that has some overlapping phenotypic features with the corresponding 22q11.2...
9.
McGinn D, Crowley T, Heung T, Tran O, Moss E, Zackai E, et al.
Genes (Basel)
. 2022 Oct;
13(10).
PMID: 36292685
Learning and intellectual disabilities are hallmark features of 22q11.2 deletion syndrome. Data are limited, however, regarding influences on full-scale IQ (FSIQ). Here, we investigated possible 22q11.2 deletion parent-of-origin effects. In...
10.
Pastor S, Tran O, McGinn D, Crowley T, Zackai E, McDonald-McGinn D, et al.
Genes (Basel)
. 2022 Sep;
13(9).
PMID: 36140835
The most prevalent microdeletion in the human population occurs at 22q11.2, a region rich in chromosome-specific low copy repeats (LCR22s). The structure of this region has eluded characterization due to...