Xenética en Cancro e Enfermidades Raras
Harvard University
Cambridge, Estados UnidosPublicacións en colaboración con investigadores/as de Harvard University (62)
2024
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Fine-mapping analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes
Nature Communications, Vol. 15, Núm. 1
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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A phenome-wide comparative analysis of genetic discordance between obesity and type 2 diabetes
Nature Metabolism, Vol. 5, Núm. 2, pp. 237-247
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Author Correction: Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries (Nature Genetics, (2023), 55, 1, (89-99), 10.1038/s41588-022-01222-9)
Nature Genetics
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Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants
Nature Genetics, Vol. 55, Núm. 12, pp. 2065-2074
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Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries
Nature Genetics, Vol. 55, Núm. 1, pp. 89-99
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ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
Clinical cancer research : an official journal of the American Association for Cancer Research, Vol. 29, Núm. 16, pp. 3037-3050
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Evaluating approaches for constructing polygenic risk scores for prostate cancer in men of African and European ancestry
American Journal of Human Genetics, Vol. 110, Núm. 7, pp. 1200-1206
2022
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Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants
Journal of Clinical Oncology, Vol. 40, Núm. 14, pp. 1529-1541
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Erratum: Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk (European journal of human genetics : EJHG (2022) 30 3 (349-362))
European journal of human genetics : EJHG
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Impact of insufficient sleep on dysregulated blood glucose control under standardised meal conditions
Diabetologia, Vol. 65, Núm. 2, pp. 356-365
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Polygenic risk modeling for prediction of epithelial ovarian cancer risk
European journal of human genetics : EJHG, Vol. 30, Núm. 3, pp. 349-362
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Prostate cancer risk stratification improvement across multiple ancestries with new polygenic hazard score
Prostate cancer and prostatic diseases, Vol. 25, Núm. 4, pp. 755-761
2021
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A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
Nature Communications, Vol. 12, Núm. 1
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A polymorphism in the promoter of FRAS1 is a candidate SNP associated with metastatic prostate cancer
Prostate, Vol. 81, Núm. 10, pp. 683-693
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A prospective study of the relationships between movement and glycemic control during day and night in pregnancy
Scientific Reports, Vol. 11, Núm. 1
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Additional SNPs improve risk stratification of a polygenic hazard score for prostate cancer
Prostate Cancer and Prostatic Diseases, Vol. 24, Núm. 2, pp. 532-541
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Breast cancer risk genes - Association analysis in more than 113,000 women
New England Journal of Medicine, Vol. 384, Núm. 5, pp. 428-439
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Erratum: Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers (Nature communications (2021) 12 1 (1078))
Nature communications
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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