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Genetics in Medicine (2)
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Showing 1–8 of 8 results

Advanced filters: Author: Angela Koudijs Clear advanced filters

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Fine-mapping of causal variants and integration of epigenetic and chromatin conformation data identify likely target genes for 150 breast cancer risk regions.

Laura Fachal
Hugues Aschard
Alison M. Dunning
Research07 Jan 2020
Nature Genetics

Volume: 52, P: 56-73
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Daniel R. Barnes
Matti A. Rookus
Antonis C. Antoniou
ResearchOpen Access15 Jul 2020
Genetics in Medicine

Volume: 22, P: 1653-1666
Analyzing cell-type-specific dynamics of metabolism in kidney repair

Understanding dynamic metabolic changes in complex biological samples often overlooks heterogeneity in cell composition. Wang et al. combine mass spectrometry imaging, isotope tracing, and multiplexed immunofluorescence microscopy to study metabolic dynamics in the kidney upon ischemia–reperfusion.

Gangqi Wang
Bram Heijs
Ton J. Rabelink
ResearchOpen Access25 Aug 2022
Nature Metabolism

Volume: 4, P: 1109-1118
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

The risk of germline copy number variants (CNVs) in BRCA1 and BRCA2 pathogenic variant carriers in breast cancer is assessed, with CNVs overlapping SULT1A1 decreasing breast cancer risk in BRCA1 carriers.

Christopher Hakkaart
John F. Pearson
Logan C. Walker
ResearchOpen Access06 Oct 2022
Communications Biology

Volume: 5, P: 1-15
Phosphatidylinositol metabolism of the renal proximal tubule S3 segment is disturbed in response to diabetes

Rosalie G. J. Rietjens
Gangqi Wang
Bernard M. van den Berg
ResearchOpen Access17 Apr 2023
Scientific Reports

Volume: 13, P: 1-12
Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

Frank Qian
Matti A. Rookus
Dezheng Huo
ResearchOpen Access19 Jun 2019
British Journal of Cancer

Volume: 121, P: 180-192
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Gisella Figlioli
Massimo Bogliolo
Paolo Peterlongo
ResearchOpen Access01 Nov 2019
npj Breast Cancer

Volume: 5, P: 1-14
The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

Inge M. M. Lakeman
Alexandra J. van den Broek
Marjanka K. Schmidt
ResearchOpen Access10 Jun 2021
Genetics in Medicine

Volume: 23, P: 1726-1737