Donna M McDonald-McGinn
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Explore the profile of Donna M McDonald-McGinn including associated specialties, affiliations and a list of published articles.
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201
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Recent Articles
1.
Souders M, McDonald-McGinn D, Ruparel K, Moore T, Tang S, Calkins M, et al.
Psychiatry Res
. 2024 Dec;
344():116336.
PMID: 39731884
The 22q11.2 Deletion Syndrome (22q11.2DS) is a multisystem genetic disorder with prominent sleep disturbances, neuropsychiatric conditions and neurocognitive challenges. Poor sleep can impact cognitive development, psychopathology and daily functioning. An...
2.
Eom T, Schmitt J, Li Y, Davenport C, Steinberg J, Bonnan A, et al.
Nat Commun
. 2024 Dec;
15(1):10510.
PMID: 39638997
Neurodevelopmental disorders are thought to arise from intrinsic brain abnormalities. Alternatively, they may arise from disrupted crosstalk among tissues. Here we show the local reduction of two vestibulo-cerebellar lobules, the...
3.
Vervoort L, Dierckxsens N, Sousa Santos M, Meynants S, Souche E, Cools R, et al.
Genome Res
. 2024 Nov;
PMID: 39537358
The 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion disorder. Why the incidence of 22q11.2DS is much greater than that of other genomic disorders remains unknown. Short-read sequencing cannot...
4.
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...
5.
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...
6.
Gur R, Bearden C, Jacquemont S, Swillen A, van Amelsvoort T, van den Bree M, et al.
Mol Psychiatry
. 2024 Jul;
30(2):379-387.
PMID: 39048645
Rare recurrent copy number variants (CNVs) at chromosomal loci 22q11.2 and 16p11.2 are genetic disorders with lifespan risk for neuropsychiatric disorders. Microdeletions and duplications are associated with neurocognitive deficits, yet...
7.
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...
8.
Finless A, Rideout A, Xiong T, Carbyn H, Lingley-Pottie P, Palmer L, et al.
Eur J Psychotraumatol
. 2024 May;
15(1):2353532.
PMID: 38780146
22q11 Deletion Syndrome (22q11DS) is the most common microdeletion syndrome with broad phenotypic variability, leading to significant morbidity and some mortality. The varied health problems associated with 22q11DS and the...
9.
Vong K, Lee S, Au K, Crowley T, Capra V, Martino J, et al.
Science
. 2024 May;
384(6695):584-590.
PMID: 38696583
Meningomyelocele is one of the most severe forms of neural tube defects (NTDs) and the most frequent structural birth defect of the central nervous system. We assembled the Spina Bifida...
10.
Goldmuntz E, Bassett A, Boot E, Marino B, Moldenhauer J, Oskarsdottir S, et al.
Prenat Diagn
. 2024 Apr;
44(6-7):804-814.
PMID: 38593251
Clinical features of 22q11.2 microdeletion syndrome (22q11.2DS) are highly variable between affected individuals and frequently include a subset of conotruncal and aortic arch anomalies. Many are diagnosed with 22q11.2DS when...