Bioquímica y Biología Molecular y Fisiología
Departamento
Leiden University Medical Center
Leiden, HolandaPublicaciones en colaboración con investigadores/as de Leiden University Medical Center (20)
2024
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Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants
Clinical chemistry, Vol. 70, Núm. 1, pp. 319-338
2022
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Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants
Journal of Pathology, Vol. 258, Núm. 1, pp. 83-101
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Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants
Journal of Pathology, Vol. 256, Núm. 3, pp. 321-334
2021
2020
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Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
Nature Genetics, Vol. 52, Núm. 1, pp. 56-73
2019
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Epithelial dysregulation in obese severe asthmatics with gastro-oesophageal reflux
European Respiratory Journal
2017
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Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
Nature Genetics, Vol. 49, Núm. 5, pp. 680-691
2015
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Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer
JAMA - Journal of the American Medical Association, Vol. 313, Núm. 13, pp. 1347-1361
2014
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Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers
Breast Cancer Research, Vol. 16
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Classification of current anticancer immunotherapies
Oncotarget, Vol. 5, Núm. 24, pp. 12472-12508
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DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
PLoS Genetics, Vol. 10, Núm. 4
2013
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Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk
PLoS Genetics, Vol. 9, Núm. 3
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Whole Exome Sequencing Suggests Much of Non-BRCA1/BRCA2 Familial Breast Cancer Is Due to Moderate and Low Penetrance Susceptibility Alleles
PLoS ONE, Vol. 8, Núm. 2
2012
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Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers
Cancer Epidemiology Biomarkers and Prevention, Vol. 21, Núm. 4, pp. 645-657
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Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers
Human Mutation, Vol. 33, Núm. 4, pp. 690-702
2011
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Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2
Breast Cancer Research, Vol. 13, Núm. 6
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Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers
Journal of the National Cancer Institute, Vol. 103, Núm. 2, pp. 105-116
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Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers
Human Genetics, Vol. 130, Núm. 5, pp. 685-699
2010
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Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: Implications for risk prediction
Cancer Research, Vol. 70, Núm. 23, pp. 9742-9754
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Common genetic variants and modification of penetrance of BRCA2-associated breast cancer
PLoS Genetics, Vol. 6, Núm. 10, pp. 1-12