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Page 1
Experience and expectations of pharmacogenetic tests in France.
Verdez S, Bardou M, Duffourd Y, Luu M, Thauvin-Robinet C, Faivre L, Picard N. Verdez S, et al. Among authors: duffourd y. Therapie. 2024 May-Jun;79(3):341-349. doi: 10.1016/j.therap.2023.07.002. Epub 2023 Jul 17. Therapie. 2024. PMID: 37516659
TET2 inactivation results in pleiotropic hematopoietic abnormalities in mouse and is a recurrent event during human lymphomagenesis.
Quivoron C, Couronné L, Della Valle V, Lopez CK, Plo I, Wagner-Ballon O, Do Cruzeiro M, Delhommeau F, Arnulf B, Stern MH, Godley L, Opolon P, Tilly H, Solary E, Duffourd Y, Dessen P, Merle-Beral H, Nguyen-Khac F, Fontenay M, Vainchenker W, Bastard C, Mercher T, Bernard OA. Quivoron C, et al. Among authors: duffourd y. Cancer Cell. 2011 Jul 12;20(1):25-38. doi: 10.1016/j.ccr.2011.06.003. Epub 2011 Jun 30. Cancer Cell. 2011. PMID: 21723201 Free article.
Characterization of novel genomic alterations and therapeutic approaches using acute megakaryoblastic leukemia xenograft models.
Thiollier C, Lopez CK, Gerby B, Ignacimouttou C, Poglio S, Duffourd Y, Guégan J, Rivera-Munoz P, Bluteau O, Mabialah V, Diop M, Wen Q, Petit A, Bauchet AL, Reinhardt D, Bornhauser B, Gautheret D, Lecluse Y, Landman-Parker J, Radford I, Vainchenker W, Dastugue N, de Botton S, Dessen P, Bourquin JP, Crispino JD, Ballerini P, Bernard OA, Pflumio F, Mercher T. Thiollier C, et al. Among authors: duffourd y. J Exp Med. 2012 Oct 22;209(11):2017-31. doi: 10.1084/jem.20121343. Epub 2012 Oct 8. J Exp Med. 2012. PMID: 23045605 Free PMC article.
Recommendations for accurate genotyping of SARS-CoV-2 using amplicon-based sequencing of clinical samples.
Kubik S, Marques AC, Xing X, Silvery J, Bertelli C, De Maio F, Pournaras S, Burr T, Duffourd Y, Siemens H, Alloui C, Song L, Wenger Y, Saitta A, Macheret M, Smith EW, Menu P, Brayer M, Steinmetz LM, Si-Mohammed A, Chuisseu J, Stevens R, Constantoulakis P, Sali M, Greub G, Tiemann C, Pelechano V, Willig A, Xu Z. Kubik S, et al. Among authors: duffourd y. Clin Microbiol Infect. 2021 Jul;27(7):1036.e1-1036.e8. doi: 10.1016/j.cmi.2021.03.029. Epub 2021 Apr 2. Clin Microbiol Infect. 2021. PMID: 33813118 Free PMC article.
BCOR and BCORL1 mutations in myelodysplastic syndromes and related disorders.
Damm F, Chesnais V, Nagata Y, Yoshida K, Scourzic L, Okuno Y, Itzykson R, Sanada M, Shiraishi Y, Gelsi-Boyer V, Renneville A, Miyano S, Mori H, Shih LY, Park S, Dreyfus F, Guerci-Bresler A, Solary E, Rose C, Cheze S, Prébet T, Vey N, Legentil M, Duffourd Y, de Botton S, Preudhomme C, Birnbaum D, Bernard OA, Ogawa S, Fontenay M, Kosmider O. Damm F, et al. Among authors: duffourd y. Blood. 2013 Oct 31;122(18):3169-77. doi: 10.1182/blood-2012-11-469619. Epub 2013 Sep 18. Blood. 2013. PMID: 24047651 Free article.
STAT3 mutations identified in human hematologic neoplasms induce myeloid malignancies in a mouse bone marrow transplantation model.
Couronné L, Scourzic L, Pilati C, Della Valle V, Duffourd Y, Solary E, Vainchenker W, Merlio JP, Beylot-Barry M, Damm F, Stern MH, Gaulard P, Lamant L, Delabesse E, Merle-Beral H, Nguyen-Khac F, Fontenay M, Tilly H, Bastard C, Zucman-Rossi J, Bernard OA, Mercher T. Couronné L, et al. Among authors: duffourd y. Haematologica. 2013 Nov;98(11):1748-52. doi: 10.3324/haematol.2013.085068. Epub 2013 Jul 19. Haematologica. 2013. PMID: 23872306 Free PMC article.
Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.
Thevenon J, Milh M, Feillet F, St-Onge J, Duffourd Y, Jugé C, Roubertie A, Héron D, Mignot C, Raffo E, Isidor B, Wahlen S, Sanlaville D, Villeneuve N, Darmency-Stamboul V, Toutain A, Lefebvre M, Chouchane M, Huet F, Lafon A, de Saint Martin A, Lesca G, El Chehadeh S, Thauvin-Robinet C, Masurel-Paulet A, Odent S, Villard L, Philippe C, Faivre L, Rivière JB. Thevenon J, et al. Among authors: duffourd y. Am J Hum Genet. 2014 Jul 3;95(1):113-20. doi: 10.1016/j.ajhg.2014.06.006. Am J Hum Genet. 2014. PMID: 24995870 Free PMC article.
Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.
Courcet JB, Elalaoui SC, Duplomb L, Tajir M, Rivière JB, Thevenon J, Gigot N, Marle N, Aral B, Duffourd Y, Sarasin A, Naim V, Courcet-Degrolard E, Aubriot-Lorton MH, Martin L, Abrid JE, Thauvin C, Sefiani A, Vabres P, Faivre L. Courcet JB, et al. Among authors: duffourd y. Eur J Hum Genet. 2015 Jul;23(7):957-62. doi: 10.1038/ejhg.2014.213. Epub 2014 Oct 15. Eur J Hum Genet. 2015. PMID: 25315659 Free PMC article.
Germline correction of an epimutation related to Silver-Russell syndrome.
Bruno C, Carmignac V, Netchine I, Choux C, Duffourd Y, Faivre L, Thauvin-Robinet C, Le Bouc Y, Sagot P, Bourc'his D, Fauque P. Bruno C, et al. Among authors: duffourd y. Hum Mol Genet. 2015 Jun 15;24(12):3314-21. doi: 10.1093/hmg/ddv079. Epub 2015 Mar 3. Hum Mol Genet. 2015. PMID: 25736213
Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations.
Courcet JB, Minello A, Prieur F, Morisse L, Phelip JM, Beurdeley A, Meynard D, Massenet D, Lacassin F, Duffourd Y, Gigot N, St-Onge J, Hillon P, Vanlemmens C, Mousson C, Cerceuil JP, Guiu B, Thevenon J, Thauvin-Robinet C, Jacquemin E, Rivière JB, Michel-Calemard L, Faivre L. Courcet JB, et al. Among authors: duffourd y. Am J Med Genet A. 2015 Dec;167A(12):3046-53. doi: 10.1002/ajmg.a.37352. Epub 2015 Sep 8. Am J Med Genet A. 2015. PMID: 26385851
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