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
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5919
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Recent Articles
1.
Verkerk A, Andrei D, Vermeer M, Kramer D, Schouten M, Arp P, et al.
J Invest Dermatol
. 2023 Sep;
144(2):284-295.e16.
PMID: 37716648
Desmosomes are dynamic complex protein structures involved in cellular adhesion. Disruption of these structures by loss-of-function variants in desmosomal genes leads to a variety of skin- and heart-related phenotypes. In...
2.
Baxter J, Johnson N, Tomczyk K, Gillespie A, Maguire S, Brough R, et al.
Am J Hum Genet
. 2021 Jun;
108(7):1190-1203.
PMID: 34146516
A combination of genetic and functional approaches has identified three independent breast cancer risk loci at 2q35. A recent fine-scale mapping analysis to refine these associations resulted in 1 (signal...
3.
Dorling L, Carvalho S, Allen J, Gonzalez-Neira A, Luccarini C, Wahlstrom C, et al.
N Engl J Med
. 2021 Jan;
384(5):428-439.
PMID: 33471991
Background: Genetic testing for breast cancer susceptibility is widely used, but for many genes, evidence of an association with breast cancer is weak, underlying risk estimates are imprecise, and reliable...
4.
Zhang H, Ahearn T, Lecarpentier J, Barnes D, Beesley J, Qi G, et al.
Nat Genet
. 2020 May;
52(6):572-581.
PMID: 32424353
Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype. To identify novel loci, we performed a genome-wide association study including 133,384 breast cancer cases and 113,789 controls,...
5.
Feng H, Gusev A, Pasaniuc B, Wu L, Long J, Abu-Full Z, et al.
Genet Epidemiol
. 2020 Mar;
44(5):442-468.
PMID: 32115800
Previous transcriptome-wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome-wide association studies (GWAS), but analyses of breast cancer subtype-specific associations...
6.
Hajjaj A, van Overdam K, Oldenburg R, Koopmans A, van den Ouweland A, de Klein A, et al.
Acta Ophthalmol
. 2020 Feb;
98(5):464-471.
PMID: 32003155
Purpose: Evaluation of phenotype and treatment outcome of retinal haemangioblastomas (RH) in von Hippel-Lindau (VHL) disease and correlation of these features with the genotype of VHL germline mutation carriers. Methods:...
7.
Goverde A, Eikenboom E, Viskil E, Bruno M, Doukas M, Dinjens W, et al.
Clin Gastroenterol Hepatol
. 2019 Aug;
18(5):1112-1120.e1.
PMID: 31470178
Background & Aims: Patients with Lynch syndrome are offered the same colorectal cancer (CRC) surveillance programs (colonoscopy every 2 years), regardless of the pathogenic DNA mismatch repair gene variant the...
8.
Dork T, Peterlongo P, Mannermaa A, Bolla M, Wang Q, Dennis J, et al.
Sci Rep
. 2019 Aug;
9(1):12524.
PMID: 31467304
Fanconi anemia (FA) is a genetically heterogeneous disorder with 22 disease-causing genes reported to date. In some FA genes, monoallelic mutations have been found to be associated with breast cancer...
9.
Chau C, van Doorn R, van Poppelen N, van der Stoep N, Mensenkamp A, Sijmons R, et al.
Cancers (Basel)
. 2019 Aug;
11(8).
PMID: 31382694
Germline pathogenic variants in the BRCA1-associated protein-1 () gene cause the BAP1-tumor predisposition syndrome (BAP1-TPDS, OMIM 614327). BAP1-TPDS is associated with an increased risk of developing uveal melanoma (UM), cutaneous...
10.
Ferreira M, Gamazon E, Al-Ejeh F, Aittomaki K, Andrulis I, Anton-Culver H, et al.
Nat Commun
. 2019 Apr;
10(1):1741.
PMID: 30988301
Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue and immune...