INSTITUTO DE BIOMEDICINA Y GENÉTICA MOLECULAR (IBGM)
Instituto
Leiden University Medical Center
Leiden, HolandaPublicaciones en colaboración con investigadores/as de Leiden University Medical Center (28)
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
2023
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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Publisher Correction: Stroke genetics informs drug discovery and risk prediction across ancestries (Nature, (2022), 611, 7934, (115-123), 10.1038/s41586-022-05165-3)
Nature
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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
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Stroke genetics informs drug discovery and risk prediction across ancestries
Nature, Vol. 611, Núm. 7934, pp. 115-123
2021
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Guidelines for the use of flow cytometry and cell sorting in immunological studies (third edition)
European Journal of Immunology, Vol. 51, Núm. 12, pp. 2708-3145
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Mapping the human genetic architecture of COVID-19
Nature, Vol. 600, Núm. 7889, pp. 472-477
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Rad51d aberrant splicing in breast cancer: Identification of splicing regulatory elements and minigene-based evaluation of 53 dna variants
Cancers, Vol. 13, Núm. 11
2020
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Comprehensive functional characterization and clinical interpretation of 20 splice-site variants of the rad51c gene
Cancers, Vol. 12, Núm. 12, pp. 1-21
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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