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Elizabeth (Lizette) J van Rensburg
Elizabeth (Lizette) J van Rensburg
Associate Professor Human Genetics, University of Pretoria
Dirección de correo verificada de up.ac.za
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Strong association of de novo copy number mutations with sporadic schizophrenia
B Xu, JL Roos, S Levy, EJ Van Rensburg, JA Gogos, M Karayiorgou
Nature genetics 40 (7), 880-885, 2008
9772008
Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype–phenotype correlation
SA Gayther, W Warren, S Mazoyer, PA Russell, PA Harrington, M Chiano, ...
Nature genetics 11 (4), 428-433, 1995
6331995
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer
TR Rebbeck, N Mitra, F Wan, OM Sinilnikova, S Healey, L McGuffog, ...
Jama 313 (13), 1347-1361, 2015
5882015
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
CM Phelan, KB Kuchenbaecker, JP Tyrer, SP Kar, K Lawrenson, ...
Nature genetics 49 (5), 680-691, 2017
4632017
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
RL Milne, KB Kuchenbaecker, K Michailidou, J Beesley, S Kar, ...
Nature genetics 49 (12), 1767-1778, 2017
4162017
Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses
H Zhang, TU Ahearn, J Lecarpentier, D Barnes, J Beesley, G Qi, X Jiang, ...
Nature genetics 52 (6), 572-581, 2020
4032020
Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers
KB Kuchenbaecker, L McGuffog, D Barrowdale, A Lee, P Soucy, J Dennis, ...
JNCI: Journal of the National Cancer Institute 109 (7), djw302, 2017
3572017
Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk
FJ Couch, X Wang, L McGuffog, A Lee, C Olswold, KB Kuchenbaecker, ...
PLoS genetics 9 (3), e1003212, 2013
3482013
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
TR Rebbeck, TM Friebel, E Friedman, U Hamann, D Huo, A Kwong, ...
Human mutation 39 (5), 593-620, 2018
3392018
Identification of six new susceptibility loci for invasive epithelial ovarian cancer
KB Kuchenbaecker, SJ Ramus, J Tyrer, A Lee, HC Shen, J Beesley, ...
Nature genetics 47 (2), 164-171, 2015
3242015
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS
MC Southey, DE Goldgar, R Winqvist, K Pylkäs, F Couch, M Tischkowitz, ...
Journal of medical genetics 53 (12), 800-811, 2016
2662016
The extent of linkage disequilibrium in four populations with distinct demographic histories
AM Dunning, F Durocher, CS Healey, MD Teare, SE McBride, ...
The American Journal of Human Genetics 67 (6), 1544-1554, 2000
2272000
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
L Fachal, H Aschard, J Beesley, DR Barnes, J Allen, S Kar, KA Pooley, ...
Nature genetics 52 (1), 56-73, 2020
1762020
Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans
B Xu, A Woodroffe, L Rodriguez-Murillo, JL Roos, EJ van Rensburg, ...
Proceedings of the National Academy of Sciences 106 (39), 16746-16751, 2009
1762009
Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation
MD Sluiter, EJ van Rensburg
Breast cancer research and treatment 125, 325-349, 2011
1662011
Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk
MM Gaudet, KB Kuchenbaecker, J Vijai, RJ Klein, T Kirchhoff, L McGuffog, ...
PLoS genetics 9 (3), e1003173, 2013
1602013
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170
AM Dunning, K Michailidou, KB Kuchenbaecker, D Thompson, JD French, ...
Nature genetics 48 (4), 374-386, 2016
1592016
Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
MA Ferreira, ER Gamazon, F Al-Ejeh, K Aittomäki, IL Andrulis, ...
Nature communications 10 (1), 1741, 2019
1382019
Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
FJ Couch, KB Kuchenbaecker, K Michailidou, GA Mendoza-Fandino, ...
Nature communications 7 (1), 11375, 2016
1372016
BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk
AB Spurdle, PJ Whiley, B Thompson, B Feng, S Healey, MA Brown, ...
Journal of medical genetics 49 (8), 525-532, 2012
1352012
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Artículos 1–20