«Pendant des siècles, la Médecine s’est préoccupée de soigner. Aujourd’hui elle s'est donnée comme but de prévenir plutôt que de guérir.»
Pr Jean Dausset, Prix Nobel de Médecine, 1980
La Fondation Jean Dausset - Centre d’Etude du Polymorphisme Humain participe aux efforts nationaux et internationaux de recherche pour mieux déterminer le rôle du polymorphisme génétique chez l’Homme, tout particulièrement dans les maladies complexes, pour mieux les comprendre, les diagnostiquer et participer au développement d’une médecine personnalisée.

Publications du CEPH par année


Publications majeures2019 2018 2017 2016 2015 2014 2013 2012 2011 2010 2009 2008 2007

Geoffroy V, Stoetzel C, Scheidecker S, Schaefer E, Perrault I, Bär S, Kröll A, Delbarre M, Antin M, Leuvrey AS, Henry C, Blanché H, Decker E, Kloth K, Klaus G, Mache C, Martin-Coignard D, McGinn S, Boland A, Deleuze JF, Friant S, Saunier S, Rozet JM, Bergmann C, Dollfus H, Muller J. Whole genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140. Hum Mutat. 2018 Apr 24. doi: 10.1002/humu.23539. [Epub ahead of print] PMID:29688594

Bonnet E, Moutet ML, Baulard C, Bacq-Daian D, Sandron F, Mesrob L, Fin B, Delépine M, Palomares MA, Jubin C,Blanché H, Meyer V, Boland A, Olaso R, Deleuze JF. Performance comparison of three DNA extraction kits on human whole-exome data from formalin-fixed paraffin-embedded normal and tumor samples. PLoS One. 2018 Apr 5;13(4):e0195471. doi: 10.1371/journal.pone.0195471. eCollection 2018. PMID:29621323

Flachsbart F, Dose J, Gentschew L, Geismann C, Caliebe A, Knecht C, Nygaard M, Badarinarayan N, ElSharawy A, May S, Luzius A, Torres GG, Jentzsch M, Forster M, Häsler R, Pallauf K, Lieb W, Derbois C, Galan P, Drichel D, Arlt A, Till A, Krause-Kyora B, Rimbach G, Blanché H, Deleuze JF, Christiansen L, Christensen K, Nothnagel M, Rosenstiel P, Schreiber S, Franke A, Sebens S, Nebel A. Publisher Correction: Identification and characterization of two functional variants in the human longevity gene FOXO3. Nat Commun. 2018 Jan 17;9(1):320. doi: 10.1038/s41467-018-02842-8. PMID:29339726

Mauger F, Kernaleguen M, Lallemand C, Kristensen VN, Deleuze JF, Tost J. Enrichment of methylated molecules using Enhanced-ice-co-amplification at lower denaturation temperature-PCR (E-ice-COLD-PCR) for the sensitive detection of disease-related hypermethylation. Epigenomics. 2018 Apr 26. doi: 10.2217/epi-2017-0166. [Epub ahead of print] PMID:29697281

Kernaleguen M, Daviaud C, Shen Y, Bonnet E, Renault V, Deleuze JF, Mauger F, Tost J. Whole-Genome Bisulfite Sequencing for the Analysis of Genome-Wide DNA Methylation and Hydroxymethylation Patterns at Single-Nucleotide Resolution Methods Mol Biol. 2018;1767:311-349. doi: 10.1007/978-1-4939-7774-1_18. PMID: 29524144

Stoeklé HC, Charlier P,Hervé C, Deleuze JF, Vogt G. Artificial intelligence in internal medicine: Between science and pseudoscience. Eur J Intern Med. 2018 May;51:e33-e34. doi: 10.1016/j.ejim.2018.01.027. Epub 2018 Feb 7. PMID: 29428496

How-Kit A, Daunay A, Buhard O, Meiller C, Sahbatou M, Collura A, Duval A, Deleuze JF. Major improvement in the detection of microsatellite instability in colorectal cancer using HSP110 T17 E-ice-COLD-PCR. Hum Mutat. 2018 Mar;39(3):441-453. doi: 10.1002/humu.23379. Epub 2017 Dec 26. PMID:29227006

Daviaud C, Renault V, Mauger F, Deleuze JF, Tost J. Whole-Genome Bisulfite Sequencing Using the Ovation Ultralow Methyl-Seq Protocol. Methods Mol Biol. 2018;1708:83-104. doi: 10.1007/978-1-4939-7481-8_5. PMID:29224140

Khan W, Saripella GV, Ludwig T, Cuppens T, Thibord F; FREX consortium, Génin E, Deleuze JF, Trégouët DA; GENMED Consorum MACARON: A python framework to identify and re-annotate multi-base affected codons in whole genome/exome sequence data Bioinformatics. 2018 May 3. doi: 10.1093/bioinformatics/bty382. [Epub ahead of print]

Imbeaud S, Hirsch TZ, Liu F, Renault V, Zucman-Rossi J, Letouzé E. Palimpsest: an R package for studying mutational and structural variant signatures along clonal evolution in cancer. Bioinformatics. 2018 May 16. doi: 10.1093/bioinformatics/bty388. [Epub ahead of print]

Baudrin LG, Duval A, Daunay A, Buhard O, Bui H, Deleuze JF, How-Kit A. Improved Microsatellite Instability Detection and Identification by Nuclease-Assisted Microsatellite Instability Enrichment Using HSP110 T17. Clin Chem. 2018 Jun 14. pii: clinchem.2018.287490. doi: 10.1373/clinchem.2018.287490.

Calderaro J, Letouzé E, Bayard Q, Boulai A, Renault V, Deleuze JF, Bestard O, Franco D, Zafrani ES, Nault JC, Moutschen M, Zucman-Rossi J. Systemic AA Amyloidosis Caused by Inflammatory Hepatocellular Adenoma. N Engl J Med. 2018 Sep 20;379(12):1178-1180. doi:10.1056/NEJMc1805673

Machiela MJ, Hofmann JN, Carreras-Torres R, Brown KM, Johansson M, Wang Z, Foll M, Li P, Rothman N, Savage SA, Gaborieau V, McKay JD, Ye Y, Henrion M, Bruinsma F, Jordan S, Severi G, Hveem K, Vatten LJ, Fletcher T, Koppova K, Larsson SC, Wolk A, Banks RE, Selby PJ, Easton DF, Pharoah P, Andreotti G, Freeman LEB, Koutros S, Albanes D, Mannisto S, Weinstein S, Clark PE, Edwards TE, Lipworth L, Gapstur SM, Stevens VL, Carol H, Freedman ML, Pomerantz MM, Cho E, Kraft P, Preston MA, Wilson KM, Gaziano JM, Sesso HS, Black A, Freedman ND, Huang WY, Anema JG, Kahnoski RJ, Lane BR, Noyes SL, Petillo D, Colli LM, Sampson JN, Besse C, Blanche H, Boland A, Burdette L, Prokhortchouk E, Skryabin KG, Yeager M, Mijuskovic M, Ognjanovic M, Foretova L, Holcatova I, Janout V, Mates D, Mukeriya A, Rascu S, Zaridze D, Bencko V, Cybulski C, Fabianova E, Jinga V, Lissowska J, Lubinski J, Navratilova M, Rudnai P, Szeszenia-Dabrowska N, Benhamou S, Cancel-Tassin G, Cussenot O, Bueno-de-Mesquita HB, Canzian F, Duell EJ, Ljungberg B, Sitaram RT, Peters U, White E, Anderson GL, Johnson L, Luo J, Buring J, Lee IM, Chow WH, Moore LE, Wood C, Eisen T, Larkin J, Choueiri TK, Lathrop GM, Teh BT, Deleuze JF, Wu X, Houlston RS, Brennan P, Chanock SJ, Scelo G, Purdue MP. Corrigendum re: Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma. Eur Urol. May 28 pii: S0302-2838(18)30366-X. 2018

Quentin Bayard,Léa Meunier, Camille Peneau, Victor Renault, Jayendra Shinde,Jean-Charles Nault, Iadh Mami, Gabrielle Couchy, Giuliana Amaddeo, Emmanuel Tubacher, Delphine Bacq, Vincent Meyer, Tiziana La Bella,Audery Debaillon-Vesque, Paulette Bioulac-Sage, Olivier Seror,Jean-Frederic Blanc, Julien Calderaro, Jean-François Deleuze, Sandrine Imbeaud, Jessica Zucman-Rossi, and Eric Letouzé. Cyclin A2/E1 activation defines a hepatocellular carcinoma subclass with a rearrangement signature of replication stress. Nature Communications 2018

Desjobert C, Carrier A, Delmas A, Marzese D, Daunay A, Busato F, Pillon A, Tost J, Riond J, Favres G, Etievant C, Arimondo P. Demethylation by low dose 5-aza-2'-deoxycytidine impairs 3D melanoma invasion partially through miR-199a-3p expression revealing the role of this miR in melanoma. Clinical Epigenetics. Accepted

Mauger F, Kernaleguen M, Lallemand C, Kristensen VN, Deleuze JF, Tost J. Enrichment of methylated molecules using enhanced-ice-co-amplification at lower denaturation temperature-PCR (E-ice-COLD-PCR) for the sensitive detection of disease-related hypermethylation. Epigenomics. 2018 May;10(5):525-537. doi: 10.2217/epi-2017-0166. Epub 2018 Apr 26.

Baudrin LG, Deleuze JF, How-Kit A. Molecular and computational methods for MSI detection in cancer. Front Oncol.

Aubart M, Gazal S, Arnaud P, Benarroch L, Gross MS, Buratti J, Boland A, Meyer V, Zouali H, Hanna N, Milleron O, Stheneur C, Bourgeron T, Desguerre I, Jacob MP, Gouya L, Génin E, Deleuze JF, Jondeau G, Boileau C. Association of modifiers and other genetic factors explain Marfan syndrome clinical variability. Eur J Hum Genet. 2018 Dec;26(12):1759-1772.

Farrell P, Férec C, Macek M, Frischer T, Renner S, Riss K, Barton D, RepettoT, Tzetis M, Giteau K, Duno M, Rogers M, Levy H, Sahbatou M, Fichou Y, LeMaréchal C, Génin E. Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis. Eur J Hum Genet. 2018 Dec;26(12):1832-1839.

Kernaleguen M, Daviaud C, Shen Y, Bonnet E, Renault V, Deleuze JF, Mauger F, Tost J. Whole-Genome Bisulfite Sequencing for the Analysis of Genome-Wide DNA Methylation and Hydroxymethylation Patterns at Single-Nucleotide Resolution. Methods Mol Biol. 2018;1767:311-349.

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