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Page 1
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: revil t. 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: revil t. 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: revil t. 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.
Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer.
Felicio PS, Grasel RS, Campacci N, de Paula AE, Galvão HCR, Torrezan GT, Sabato CS, Fernandes GC, Souza CP, Michelli RD, Andrade CE, Barros BDF, Matsushita MM, Revil T, Ragoussis J, Couch FJ, Hart SN, Reis RM, Melendez ME, Tonin PN, Carraro DM, Palmero EI. Felicio PS, et al. Among authors: revil t. Hum Mutat. 2021 Mar;42(3):290-299. doi: 10.1002/humu.24158. Epub 2020 Dec 28. Hum Mutat. 2021. PMID: 33326660 Free PMC article.
A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene.
Fierheller CT, Guitton-Sert L, Alenezi WM, Revil T, Oros KK, Gao Y, Bedard K, Arcand SL, Serruya C, Behl S, Meunier L, Fleury H, Fewings E, Subramanian DN, Nadaf J, Bruce JP, Bell R, Provencher D, Foulkes WD, El Haffaf Z, Mes-Masson AM, Majewski J, Pugh TJ, Tischkowitz M, James PA, Campbell IG, Greenwood CMT, Ragoussis J, Masson JY, Tonin PN. Fierheller CT, et al. Among authors: revil t. Genome Med. 2021 Dec 3;13(1):186. doi: 10.1186/s13073-021-00998-5. Genome Med. 2021. PMID: 34861889 Free PMC article.
Case Review: Whole-Exome Sequencing Analyses Identify Carriers of a Known Likely Pathogenic Intronic BRCA1 Variant in Ovarian Cancer Cases Clinically Negative for Pathogenic BRCA1 and BRCA2 Variants.
Alenezi WM, Fierheller CT, Revil T, Serruya C, Mes-Masson AM, Foulkes WD, Provencher D, El Haffaf Z, Ragoussis J, Tonin PN. Alenezi WM, et al. Among authors: revil t. Genes (Basel). 2022 Apr 15;13(4):697. doi: 10.3390/genes13040697. Genes (Basel). 2022. PMID: 35456503 Free PMC article.
The Genetic and Molecular Analyses of RAD51C and RAD51D Identifies Rare Variants Implicated in Hereditary Ovarian Cancer from a Genetically Unique Population.
Alenezi WM, Milano L, Fierheller CT, Serruya C, Revil T, Oros KK, Behl S, Arcand SL, Nayar P, Spiegelman D, Gravel S, Mes-Masson AM, Provencher D, Foulkes WD, El Haffaf Z, Rouleau G, Bouchard L, Greenwood CMT, Masson JY, Ragoussis J, Tonin PN. Alenezi WM, et al. Among authors: revil t. Cancers (Basel). 2022 Apr 30;14(9):2251. doi: 10.3390/cancers14092251. Cancers (Basel). 2022. PMID: 35565380 Free PMC article.
Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene.
Fierheller CT, Alenezi WM, Serruya C, Revil T, Amuzu S, Bedard K, Subramanian DN, Fewings E, Bruce JP, Prokopec S, Bouchard L, Provencher D, Foulkes WD, El Haffaf Z, Mes-Masson AM, Tischkowitz M, Campbell IG, Pugh TJ, Greenwood CMT, Ragoussis J, Tonin PN. Fierheller CT, et al. Among authors: revil t. Genes (Basel). 2023 Jan 20;14(2):277. doi: 10.3390/genes14020277. Genes (Basel). 2023. PMID: 36833203 Free PMC article.
26 results