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DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.
Rivera B, Nadaf J, Fahiminiya S, Apellaniz-Ruiz M, Saskin A, Chong AS, Sharma S, Wagener R, Revil T, Condello V, Harra Z, Hamel N, Sabbaghian N, Muchantef K, Thomas C, de Kock L, Hébert-Blouin MN, Bassenden AV, Rabenstein H, Mete O, Paschke R, Pusztaszeri MP, Paulus W, Berghuis A, Ragoussis J, Nikiforov YE, Siebert R, Albrecht S, Turcotte R, Hasselblatt M, Fabian MR, Foulkes WD. Rivera B, et al. Among authors: ragoussis j. J Clin Invest. 2020 Mar 2;130(3):1479-1490. doi: 10.1172/JCI130206. J Clin Invest. 2020. PMID: 31805011 Free PMC article. Clinical Trial.
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: ragoussis j. 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
Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma.
de Kock L, Rivera B, Revil T, Thorner P, Goudie C, Bouron-Dal Soglio D, Choong CS, Priest JR, van Diest PJ, Tanboon J, Wagner A, Ragoussis J, Choong PF, Foulkes WD. de Kock L, et al. Among authors: ragoussis j. Br J Cancer. 2017 Jun 6;116(12):1621-1626. doi: 10.1038/bjc.2017.147. Epub 2017 May 18. Br J Cancer. 2017. PMID: 28524158 Free PMC article.
The empress of subterfuge: cancer of the fallopian tube presenting with malapropism.
Gilbert L, Revil T, Meunier C, Jardon K, Zeng X, Martins C, Arseneau J, Fu L, North K, Schiavi A, Ehrensperger E, Artho G, Lee T, Morris D, Ragoussis J. Gilbert L, et al. Among authors: ragoussis j. Lancet. 2017 Sep 2;390(10098):1003-1004. doi: 10.1016/S0140-6736(17)31586-6. Lancet. 2017. PMID: 28872014 No abstract available.
Transcript Profiling Using Long-Read Sequencing Technologies.
Bayega A, Wang YC, Oikonomopoulos S, Djambazian H, Fahiminiya S, Ragoussis J. Bayega A, et al. Among authors: ragoussis j. Methods Mol Biol. 2018;1783:121-147. doi: 10.1007/978-1-4939-7834-2_6. Methods Mol Biol. 2018. PMID: 29767360
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: ragoussis j. Front Genet. 2019 Oct 18;10:1005. doi: 10.3389/fgene.2019.01005. eCollection 2019. Front Genet. 2019. PMID: 31681433 Free PMC article.
Single-cell RNA-seq reveals that glioblastoma recapitulates a normal neurodevelopmental hierarchy.
Couturier CP, Ayyadhury S, Le PU, Nadaf J, Monlong J, Riva G, Allache R, Baig S, Yan X, Bourgey M, Lee C, Wang YCD, Wee Yong V, Guiot MC, Najafabadi H, Misic B, Antel J, Bourque G, Ragoussis J, Petrecca K. Couturier CP, et al. Among authors: ragoussis j. Nat Commun. 2020 Jul 8;11(1):3406. doi: 10.1038/s41467-020-17186-5. Nat Commun. 2020. PMID: 32641768 Free PMC article.
Methodologies for Transcript Profiling Using Long-Read Technologies.
Oikonomopoulos S, Bayega A, Fahiminiya S, Djambazian H, Berube P, Ragoussis J. Oikonomopoulos S, et al. Among authors: ragoussis j. Front Genet. 2020 Jul 7;11:606. doi: 10.3389/fgene.2020.00606. eCollection 2020. Front Genet. 2020. PMID: 32733532 Free PMC article. Review.
267 results