Ans M W van den Ouweland
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Explore the profile of Ans M W van den Ouweland including associated specialties, affiliations and a list of published articles.
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95
Citations
5919
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Recent Articles
11.
Escala-Garcia M, Guo Q, Dork T, Canisius S, Keeman R, Dennis J, et al.
Br J Cancer
. 2019 Feb;
120(6):647-657.
PMID: 30787463
Background: We examined the associations between germline variants and breast cancer mortality using a large meta-analysis of women of European ancestry. Methods: Meta-analyses included summary estimates based on Cox models...
12.
Tudini E, Moghadasi S, Parsons M, van der Kolk L, van den Ouweland A, Niederacher D, et al.
Breast Cancer Res Treat
. 2018 Aug;
172(2):497-503.
PMID: 30105462
Purpose: Classification of rare BRCA1 missense variants presents a major challenge for the counseling and treatment of patients. Variant classification can be complicated by conflicting lines of evidence. BRCA1 c.5309G>T...
13.
The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity
Colombo M, Lopez-Perolio I, Meeks H, Caleca L, Parsons M, Li H, et al.
Hum Mutat
. 2018 Feb;
39(5):729-741.
PMID: 29460995
Although the spliceogenic nature of the BRCA2 c.68-7T > A variant has been demonstrated, its association with cancer risk remains controversial. In this study, we accurately quantified by real-time PCR...
14.
Guo Q, Burgess S, Turman C, Bolla M, Wang Q, Lush M, et al.
Int J Epidemiol
. 2017 Dec;
46(6):1814-1822.
PMID: 29232439
Background: There is increasing evidence that elevated body mass index (BMI) is associated with reduced survival for women with breast cancer. However, the underlying reasons remain unclear. We conducted a...
15.
Michailidou K, Lindstrom S, Dennis J, Beesley J, Hui S, Kar S, et al.
Nature
. 2017 Oct;
551(7678):92-94.
PMID: 29059683
Breast cancer risk is influenced by rare coding variants in susceptibility genes, such as BRCA1, and many common, mostly non-coding variants. However, much of the genetic contribution to breast cancer...
16.
Milne R, Kuchenbaecker K, Michailidou K, Beesley J, Kar S, Lindstrom S, et al.
Nat Genet
. 2017 Oct;
49(12):1767-1778.
PMID: 29058716
Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease. We conducted a GWAS using 21,468 ER-negative cases and 100,594...
17.
Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia
Goos J, Swagemakers S, Twigg S, van Dooren M, Hoogeboom A, Beetz C, et al.
Eur J Hum Genet
. 2017 Sep;
25(10):1126-1133.
PMID: 28905882
Burn-McKeown syndrome (BMKS) is a rare syndrome characterized by choanal atresia, prominent ears, abnormalities of the outer third of the lower eyelid, structural cardiac abnormalities, conductive and sensorineural hearing loss,...
18.
Hollink I, van den Ouweland A, Beverloo H, Arentsen-Peters S, Zwaan C, Wagner A
J Med Genet
. 2017 Apr;
54(12):805-808.
PMID: 28432085
Background: Recently a novel syndromic form of overgrowth with intellectual disability and distinct facial features was identified caused by constitutional mutations in the epigenetic regulator DNA-methyltransferase 3A (), referred to...
19.
Tarailo-Graovac M, Drogemoller B, Wasserman W, Ross C, van den Ouweland A, Darin N, et al.
Orphanet J Rare Dis
. 2017 Feb;
12(1):28.
PMID: 28187749
Background: Sialic acid storage diseases are neurodegenerative disorders characterized by accumulation of sialic acid in the lysosome. These disorders are caused by mutations in SLC17A5, the gene encoding sialin, a...
20.
Liu J, Loncar I, Collee J, Bolla M, Dennis J, Michailidou K, et al.
Sci Rep
. 2016 Nov;
6:36874.
PMID: 27845421
NBS1, also known as NBN, plays an important role in maintaining genomic stability. Interestingly, rs2735383 G > C, located in a microRNA binding site in the 3'-untranslated region (UTR) of...