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High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome.
de Kock L, Wang YC, Revil T, Badescu D, Rivera B, Sabbaghian N, Wu M, Weber E, Sandoval C, Hopman SM, Merks JH, van Hagen JM, Bouts AH, Plager DA, Ramasubramanian A, Forsmark L, Doyle KL, Toler T, Callahan J, Engelenberg C, Bouron-Dal Soglio D, Priest JR, Ragoussis J, Foulkes WD. de Kock L, et al. Among authors: rivera b. J Med Genet. 2016 Jan;53(1):43-52. doi: 10.1136/jmedgenet-2015-103428. Epub 2015 Oct 16. J Med Genet. 2016. PMID: 26475046
Long-term tumour dormancy in a BRCA1 heterozygote.
Amuzu S, Fu L, Demko N, Rivera B, Domecq C, de Kock L, Hamel N, Gilbert L, Polak P, Ragoussis J, Foulkes WD. Amuzu S, et al. Among authors: rivera b. J Med Genet. 2023 Jan;60(1):33-35. doi: 10.1136/jmedgenet-2021-108269. Epub 2022 Jan 17. J Med Genet. 2023. PMID: 35039446 No abstract available.
Paired Somatic-Germline Testing of 15 Polyposis and Colorectal Cancer-Predisposing Genes Highlights the Role of APC Mosaicism in de Novo Familial Adenomatous Polyposis.
Rofes P, González S, Navarro M, Moreno-Cabrera JM, Solanes A, Darder E, Carrasco E, Iglesias S, Salinas M, Gómez C, Velasco À, Tuset N, Varela M, Llort G, Ramon Y Cajal T, Grau È, Dueñas N, de la Ossa Merlano N, Matías-Guiu X, Rivera B, Balmaña J, Pineda M, Brunet J, Capellá G, Del Valle J, Lázaro C. Rofes P, et al. Among authors: rivera b. J Mol Diagn. 2021 Nov;23(11):1452-1459. doi: 10.1016/j.jmoldx.2021.07.024. Epub 2021 Aug 25. J Mol Diagn. 2021. PMID: 34454113 Free article.
A decade of RAD51C and RAD51D germline variants in cancer.
Boni J, Idani A, Roca C, Feliubadaló L, Tomiak E, Weber E, Foulkes WD, Orthwein A, El Haffaf Z, Lazaro C, Rivera B. Boni J, et al. Among authors: rivera b. Hum Mutat. 2022 Mar;43(3):285-298. doi: 10.1002/humu.24319. Epub 2021 Dec 30. Hum Mutat. 2022. PMID: 34923718 Review.
Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.
Glentis S, Dimopoulos AC, Rouskas K, Ntritsos G, Evangelou E, Narod SA, Mes-Masson AM, Foulkes WD, Rivera B, Tonin PN, Ragoussis J, Dimas AS. Glentis S, et al. Among authors: rivera b. Front Genet. 2019 Oct 18;10:1005. doi: 10.3389/fgene.2019.01005. eCollection 2019. Front Genet. 2019. PMID: 31681433 Free PMC article.
Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma.
Evans DG, Messiaen LM, Foulkes WD, Irving REA, Murray AJ, Perez-Becerril C, Rivera B, McDonald-McGinn DM, Stevenson DA, Smith MJ. Evans DG, et al. Among authors: rivera b. Genet Med. 2021 Sep;23(9):1779-1782. doi: 10.1038/s41436-021-01175-0. Epub 2021 Apr 20. Genet Med. 2021. PMID: 33879870 Free PMC article.
Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D.
Yang X, Song H, Leslie G, Engel C, Hahnen E, Auber B, Horváth J, Kast K, Niederacher D, Turnbull C, Houlston R, Hanson H, Loveday C, Dolinsky JS, LaDuca H, Ramus SJ, Menon U, Rosenthal AN, Jacobs I, Gayther SA, Dicks E, Nevanlinna H, Aittomäki K, Pelttari LM, Ehrencrona H, Borg Å, Kvist A, Rivera B, Hansen TVO, Djursby M, Lee A, Dennis J, Bowtell DD, Traficante N, Diez O, Balmaña J, Gruber SB, Chenevix-Trench G, Investigators K, Jensen A, Kjær SK, Høgdall E, Castéra L, Garber J, Janavicius R, Osorio A, Golmard L, Vega A, Couch FJ, Robson M, Gronwald J, Domchek SM, Culver JO, de la Hoya M, Easton DF, Foulkes WD, Tischkowitz M, Meindl A, Schmutzler RK, Pharoah PDP, Antoniou AC. Yang X, et al. Among authors: rivera b. J Natl Cancer Inst. 2020 Dec 14;112(12):1242-1250. doi: 10.1093/jnci/djaa030. J Natl Cancer Inst. 2020. PMID: 32107557 Free PMC article.
280 results