Medicina
Département
University of Western Australia
Perth, AustraliaPublications en collaboration avec des chercheurs de University of Western Australia (40)
2023
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A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: Application to BRCA1 and BRCA2
Human Mutation, Vol. 2023
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Early non-disabling relapses are important predictors of disability accumulation in people with relapsing-remitting multiple sclerosis
Multiple sclerosis (Houndmills, Basingstoke, England), Vol. 29, Núm. 7, pp. 875-883
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Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel
Journal of Medical Genetics, Vol. 60, Núm. 12, pp. 1186-1197
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The risk of secondary progressive multiple sclerosis is geographically determined but modifiable
Brain : a journal of neurology, Vol. 146, Núm. 11, pp. 4633-4644
2022
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Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study
British Journal of Sports Medicine, Vol. 56, Núm. 20, pp. 1157-1170
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Proposal of 0.5 mg of protein/100 g of processed food as threshold for voluntary declaration of food allergen traces in processed food—A first step in an initiative to better inform patients and avoid fatal allergic reactions: A GA²LEN position paper
Allergy: European Journal of Allergy and Clinical Immunology, Vol. 77, Núm. 6, pp. 1736-1750
2021
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Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment
Breast cancer research : BCR, Vol. 23, Núm. 1, pp. 86
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Breast cancer risk factors and survival by tumor subtype: Pooled analyses from the breast cancer association consortium
Cancer Epidemiology Biomarkers and Prevention, Vol. 30, Núm. 4, pp. 623-642
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Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element
American Journal of Human Genetics, Vol. 108, Núm. 7, pp. 1190-1203
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Multiple sclerosis progression discussion tool usability and usefulness in clinical practice: Cross-sectional, web-based survey
Journal of Medical Internet Research, Vol. 23, Núm. 10
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The tale of TILs in breast cancer: A report from The International Immuno-Oncology Biomarker Working Group
npj Breast Cancer, Vol. 7, Núm. 1
2020
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A call for a global COVID-19 Neuro Research Coalition
The Lancet Neurology
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Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk
American Journal of Human Genetics, Vol. 107, Núm. 5, pp. 837-848
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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
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Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses
Nature Genetics, Vol. 52, Núm. 6, pp. 572-581
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Needles in a haystack: Extremely rare invasive fungal infections reported in FungiScopeⓇ—Global Registry for Emerging Fungal Infections
Journal of Infection, Vol. 81, Núm. 5, pp. 802-815
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Transcriptome-wide association study of breast cancer risk by estrogen-receptor status
Genetic Epidemiology, Vol. 44, Núm. 5, pp. 442-468
2019
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Equalization of four cardiovascular risk algorithms after systematic recalibration: Individual-participant meta-analysis of 86 prospective studies
European Heart Journal, Vol. 40, Núm. 7, pp. 621-631
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Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
Nature Communications, Vol. 10, Núm. 1
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Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
Human Mutation, Vol. 40, Núm. 9, pp. 1557-1578