Andrea K Vaags
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Explore the profile of Andrea K Vaags including associated specialties, affiliations and a list of published articles.
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17
Citations
461
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Recent Articles
1.
Bell K, Kim R, Aronson M, Gillies B, Awan A, Chun K, et al.
J Med Genet
. 2022 Dec;
60(8):769-775.
PMID: 36564171
Background: Genetic testing for hereditary cancer susceptibility has advanced over time due to the discovery of new risk genes, improved technology and decreased cost. In the province of Ontario, testing...
2.
Grafodatskaya D, ORielly D, Bedard K, Butcher D, Howlett C, Lytwyn A, et al.
J Med Genet
. 2022 Apr;
59(8):727-736.
PMID: 35393334
The purpose of this document is to provide pre-analytical, analytical and post-analytical considerations and recommendations to Canadian clinical laboratories developing, validating and offering next-generation sequencing (NGS)-based and () tumour testing...
3.
Mighton C, Smith A, Mayers J, Tomaszewski R, Taylor S, Hume S, et al.
J Med Genet
. 2021 Apr;
59(6):571-578.
PMID: 33875564
Background: This study aimed to identify and resolve discordant variant interpretations across clinical molecular genetic laboratories through the Canadian Open Genetics Repository (COGR), an online collaborative effort for variant sharing...
4.
Mattman A, Gilfix B, Chen S, DeMarco M, Kyle B, Parker M, et al.
Clin Biochem
. 2020 May;
81:27-33.
PMID: 32387440
Background: Laboratory confirmation of alpha-1-antitrypsin (A1AT) deficiency may be achieved by multiple methods. Here, we compare the relative comprehensiveness and efficiency of pathogenic variant (PV) detection of four different protocols...
5.
Addis L, Ahn J, Dobson R, Dixit A, Ogilvie C, Pinto D, et al.
Hum Mutat
. 2015 May;
36(9):842-50.
PMID: 26010655
Copy-number variations (CNVs) are important in the aetiology of neurodevelopmental disorders and show broad phenotypic manifestations. We compared the presence of small CNVs disrupting the ELP4-PAX6 locus in 4,092 UK...
6.
Vaags A, Bowdin S, Smith M, Gilbert-Dussardier B, Brocke-Holmefjord K, Sinopoli K, et al.
Ann Neurol
. 2014 Sep;
76(5):758-64.
PMID: 25223753
Synaptic function is central to brain function. Understanding the synapse is aided by studies of patients lacking individual synaptic proteins. Common neurological diseases are genetically complex. Their understanding is likewise...
7.
Chenier S, Yoon G, Argiropoulos B, Lauzon J, Laframboise R, Ahn J, et al.
J Neurodev Disord
. 2014 May;
6(1):9.
PMID: 24834135
Background: The chromodomain helicase DNA binding domain (CHD) proteins modulate gene expression via their ability to remodel chromatin structure and influence histone acetylation. Recent studies have shown that CHD2 protein...
8.
Krutikov K, Zheng Y, Chesney A, Huang X, Vaags A, Evdokimova V, et al.
PLoS One
. 2014 Mar;
9(2):e89649.
PMID: 24586935
The noncluster homeobox gene HOX11/TLX1 (TLX1) is detected at the breakpoint of the t(10;14)(q24;q11) chromosome translocation in patients with T cell acute lymphoblastic leukemia (T-ALL). This translocation results in the...
9.
Lionel A, Tammimies K, Vaags A, Rosenfeld J, Ahn J, Merico D, et al.
Hum Mol Genet
. 2014 Jan;
23(10):2752-68.
PMID: 24381304
Rare copy number variants (CNVs) disrupting ASTN2 or both ASTN2 and TRIM32 have been reported at 9q33.1 by genome-wide studies in a few individuals with neurodevelopmental disorders (NDDs). The vertebrate-specific...
10.
Ward M, Connelly K, Vijayaraghavan R, Vaags A, Graham J, Foltz W, et al.
Cardiovasc Ther
. 2013 Jul;
31(6):e72-8.
PMID: 23837864
Aim: Cell therapy has been shown to be effective in improving LV function postmyocardial infarction (MI). We hypothesized that eNOS-transfected bone marrow cells (BMCs) are safe in a swine model...