{"id":399,"date":"2024-07-18T11:31:01","date_gmt":"2024-07-18T11:31:01","guid":{"rendered":"http:\/\/nouveausiteintegragen2.local\/?page_id=399"},"modified":"2026-04-09T11:16:19","modified_gmt":"2026-04-09T09:16:19","slug":"publications-scientifiques","status":"publish","type":"page","link":"https:\/\/integragen.com\/en\/communication\/publications-scientifiques\/","title":{"rendered":"Scientific Publications"},"content":{"rendered":"
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SCIENTIFIC PUBLICATIONS<\/h2>\n\n\n\n
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2026<\/h2>\n\n\n\n
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Cordier P, Hirsch TZ, Caruso S, Pan L, Galy-Fauroux I, Klein C, De La Cruz-Ojeda P, Maille P, Poupel L, Imbeaud S, Zucman-Rossi J, Calderaro J, Desdouets C. Intratumour ploidy heterogeneity and clonal evolution in hepatocellular carcinoma<\/strong><\/a>. J Hepatol. 2026 Apr;84(4):776-792. doi: 10.1016\/j.jhep.2025.11.015.<\/p>\n<\/blockquote>\n\n\n\n

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Gaillard L, Sportes-Milot L, Debizet K, T\u00eate A, Saubamea B, Helou DG, Devineau S, Coumoul X, Blanc \u00c9, Bortoli S, Andr\u00e9au K. Repeated exposure to polyethylene microplastic mixtures containing PFAS and bisphenols activates THP-1 macrophages with inflammatory features<\/strong><\/a>. Environ Pollut. 2026 Mar 3;397:127906. doi: 10.1016\/j.envpol.2026.127906.<\/p>\n<\/blockquote>\n\n\n\n

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Nault JC, Campani C, Hirsch TZ, Neumann E, Arif W, Imbeaud S, Baretti M, Ziol M, Sidali S, Roger P, Allaire M, Bouattour M, Marra F, Fresneau B, Llarch N, Peron JM, Gerolami R, Khac EN, Nahon P, Ganne-Carri\u00e9 N, Cald\u00e9raro J, Beaufr\u00e8re A, Paradis V, Guettier C, Sutton A, Yarchoan M, Zucman-Rossi J. Serum procalcitonin: A novel tumor biomarker for diagnosis and disease monitoring in fibrolamellar hepatocellular carcinoma<\/strong><\/a>. J Hepatol. 2026 Feb 6:S0168-8278(26)00055-3. doi: 10.1016\/j.jhep.2026.01.015.<\/p>\n<\/blockquote>\n\n\n\n

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Gauthier J, Maugendre M, L\u00e9onard S, Desvois Y, Pineau M, Pinon R, Hipp N, Tarte K, Am\u00e9 P, Hillion S, Michel L, Delaloy C. B cell-intrinsic IL-2 signaling regulates inflammation by promoting IL-10 expression in CD25+<\/sup> age-associated B cells<\/strong><\/a>. Immunity. 2026 Feb 10;59(2):354-371.e9. doi: 10.1016\/j.immuni.2026.01.015.<\/p>\n<\/blockquote>\n\n\n\n

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Galtier J, Peanne R, Le Morvan V, Blondy T, Melane M, Bidon A, Chopin A, Prochazkova-Carlotti M, Poglio S, Merlio JP, Chevret E, Gros A, Pham-Ledard A, Beylot-Barry M, Bresson-Bepoldin L. Cutaneous diffuse large B-cell lymphoma induces a macrophage immunosuppressive phenotype through IL-10 secretion<\/strong><\/a>. Blood Adv. 2026 Feb 10;10(3):850-863. doi: 10.1182\/bloodadvances.2025016492.<\/p>\n<\/blockquote>\n\n\n\n

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Moreno SG, Ferri F, Lewandowski D, Barroca V, Devanand S, Dechamps N, Romeo PH, Gault N. Heritable ER stress impairs mitochondrial metabolism and maintenance of hematopoietic stem cells after low-dose irradiation<\/strong><\/a>. iScience. 2026 Jan 19;29(2):114738. doi: 10.1016\/j.isci.2026.114738.<\/p>\n<\/blockquote>\n<\/div>\n\n\n\n

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2025<\/h2>\n\n\n\n
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Ben Sassi M<\/strong>Azais H, Marcaillou C, Guibert S, Martin E, Alexandre J, Benoit L, de Reynies A, Laude E, Duong C, Medioni J, Borghese B, Bats AS, Taly V, Laurent-Puig P. Improved tumor-type informed compared to tumor-informed mutation tracking for ctDNA detection and microscopic residual disease assessment in epithelial ovarian cancer<\/a><\/strong>. J Exp Clin Cancer Res. 2025 Jun 12;44(1):174. doi: 10.1186\/s13046-025-03433-4.PMID: 40506726.<\/p>\n<\/blockquote>\n\n\n\n

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Fou\u00e9r\u00e9 C, Costes V, Hoz\u00e9 C, Ravi Shankar AR, Besnard F, Costa Monteiro Moreira G, Sorin V, Le Danvic C, Chaulot-Talmon A, Ali F, Deloche MC, Bonnet A, Sellem E, Jammes H, Fritz S, Boussaha M, Boichard D, Kiefer H & Sanchez MP. Genetic regulation of sperm DNA methylation in cattle through meQTL mapping<\/strong><\/a>. BMC Genomics 26, 771 (2025). doi: 10.1186\/s12864-025-11934-x.<\/p>\n<\/blockquote>\n\n\n\n

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Laude E, Aza\u00efs H, Ben Sassi M, <\/strong>Bats A-S, Taly V, Laurent-Puig P. Clinical value of circulating tumor DNA for patients with epithelial ovarian cancer<\/strong><\/a>. International Journal of Gynecological Cancer<\/a><\/em>. Volume 35, Issue 7<\/a>, July 2025, 1019250; https:\/\/doi.org\/10.1016\/j.ijgc.2025.101925<\/a>.<\/p>\n<\/blockquote>\n\n\n\n

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Zoglio V, Chebouti S, Issa F, Relaix F, Esteves de Lima J. DAXX-dependent H3.3 deposition maintains myoblast cell identity independently of other histone chaperone complexes<\/strong><\/a>. iScience. 2025 Jul 16;28(8):113119. doi: 10.1016\/j.isci.2025.113119<\/p>\n<\/blockquote>\n\n\n\n

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Vitiello PP, Rousseau B, Chil\u00e0 R, Battuello P, Amodio V, Battaglieri V, Grasso G, Scardellato S, Anselmo A, Clemente F, Rospo G, Lamba S, Bartolini A, Pisati F, Tripodo C, Congiusta N, Russo M, Crisafulli G, Di Nicolantonio F, Germano G, Diaz LA Jr, Bardelli A. Cisplatin and temozolomide combinatorial treatment triggers hypermutability and immune surveillance in experimental cancer models<\/strong><\/a>. Cancer Cell. 2025 Jul 14;43(7):1296-1312.e7. doi: 10.1016\/j.ccell.2025.05.014.<\/p>\n<\/blockquote>\n\n\n\n

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Duarte Hospital C, T\u00eate A, Debizet K, Rives C, Imler J, Safi-Stibler S, Gales L, Bellvert F, Dairou J, Hagimont A, Burel A, Lagadic-Gossmann D, Barouki R, Shay JW, Bastin J, Mouillet-Richard S, Lemari\u00e9 A, Djouadi F, Ellero-Simatos S, Coumoul X, Favier J, Bortoli S. Triggering tumorigenic signaling: Succinate dehydrogenase inhibitor (SDHi) fungicides induce oncometabolite accumulation and metabolic shift in human colon cells<\/strong><\/a>. Environ Int. 2025 May;199:109503. doi: 10.1016\/j.envint.2025.109503.<\/p>\n<\/blockquote>\n\n\n\n

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Ley-Ngardigal S, Claverol S, Sobilo L, Moreau M, Hubert C, Goupil J, Poulignon A, Mahfouf W, Fatrouni H, Dard L, Juan M, Gales L, Merched A, Tokarski C, Leblanc E, Galinier A, Lacombe D, Rezvani HR, Bellvert F, Pays K, Nizard C, Amoedo ND, Bulteau AL, Rossignol R. Repression of oxidative phosphorylation by NR2F2, MTERF3 and GDF15 in human skin under high-glucose stress<\/strong><\/a>. Redox Biol. 2025 May;82:103613. doi: 10.1016\/j.redox.2025.103613.<\/p>\n<\/blockquote>\n\n\n\n

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Bianco L, Navarro J, Michiels C, Sangermano R, Condroyer C, Antonio A, Antropoli A, Andrieu C, Place EM, Pierce EA, El Shamieh S, Smirnov V, Kalatzis V, Mansard L, Roux AF, Bocquet B, Sahel JA, Meunier I, Bujakowska KM, Audo I, Zeitz C. Identification of IDH3G, encoding the gamma subunit of mitochondrial isocitrate dehydrogenase, as a novel candidate gene for X-linked retinitis pigmentosa<\/strong><\/a>. Genet Med. 2025 Jun;27(6):101418. doi: 10.1016\/j.gim.2025.101418.<\/p>\n<\/blockquote>\n\n\n\n

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Camus V, Molina T, Desmots F, Blanc-Durand P, Kanoun S, Moslemi A, Ruminy P, Le Gouill S, Ghesqui\u00e8res H, Oberic L, Morschhauser F, Tilly H, Ribrag V, Houot R, Thieblemont C, Maisonneuve H, Claves F, Bouabdallah K, Haioun C, Damaj GL, Fornecker LM, Noel R, Feugier P, Sibon D, Cartron G, Bonnet C, Bernard W, Kraeber-Bod\u00e9r\u00e9 F, Bodet-Milin C, Jais JP, Bri\u00e8re J, Rossi C, Elsensohn MH, Chartier L, Itti E, Jardin F, Fest T. Interim PET after 4 cycles predicts outcome in histomolecularly confirmed primary mediastinal B-cell lymphoma<\/strong><\/a>. Blood Adv. 2025 May 13;9(9):2232-2246. doi: 10.1182\/bloodadvances.2024015577.<\/p>\n<\/blockquote>\n\n\n\n

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Verbeke S, Bourdon A, Lafon M, Chaire V, Frederic B, Na\u00eft Eldjoudi A, Derieppe MA, Giles F, Italiano A. Dual inhibition of BET and EP300 has antitumor activity in undifferentiated pleomorphic sarcomas and synergizes with ferroptosis induction<\/strong><\/a>. Transl Oncol. 2025 Feb;52:102236. doi: 10.1016\/j.tranon.2024.102236.<\/p>\n<\/blockquote>\n\n\n\n

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Valdivieso A, Morga B, Degremont L, Mege M, Courtay G, Dorant Y, Escoubas JM, Gawra J, de Lorgeril J, Mitta G, Cosseau C, Vidal-Dupiol J. DNA methylation landscapes before and after Pacific Oyster Mortality Syndrome are different within and between resistant and susceptible Magallana gigas
<\/strong><\/a>. Sci Total Environ. 2025 Jan 25;962:178385. doi: 10.1016\/j.scitotenv.2025.178385.<\/p>\n<\/blockquote>\n<\/div>\n\n\n\n

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2024<\/h2>\n\n\n\n
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Nicolle R, Canivet C, Palazzo L, Napol\u00e9on B, Ayadi M, Pignolet C, Cros J, Gourgou S, Selves J, Torrisani J, Dusetti N, Cordelier P, Buscail L, Bournet B. Predictive genomic and transcriptomic analysis on endoscopic ultrasound-guided fine needle aspiration materials from primary pancreatic adenocarcinoma: a prospective multicentre study<\/strong><\/a>. EBioMedicine. 2024 Nov;109:105373. doi: 10.1016\/j.ebiom.2024.105373.<\/p>\n<\/blockquote>\n\n\n\n

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Hug E, Renaud Y, Guiton R, Ben Sassi M, Marcaillou C<\/strong>Moazamian A, Gharagozloo P, Drevet JR, Saez F. Exploring the Epigenetic Landscape of Spermatozoa: Impact of Oxidative Stress and Antioxidant Supplementation on DNA Methylation and Hydroxymethylation<\/strong><\/a>. Antioxidants<\/em> 2024<\/strong>, 13<\/em>(12), 1520; https:\/\/doi.org\/10.3390\/antiox13121520<\/a>.<\/p>\n<\/blockquote>\n\n\n\n

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Diallo M, Defay-Stinat A, Gindensperger V, Sequeira A, Trimouille A, Javerzat S, Bourgeade L, Plaisant C, Lasseaux E, Michaud V, Drumare I, Arveiler B. A 65 kilobase deletion of the upstream TYR gene region in a family with oculocutaneous albinism type 1.<\/strong><\/a> Gene. 2025 Jan 30;935:149079. doi: 10.1016\/j.gene.2024.149079. Epub 2024 Nov 5.<\/p>\n<\/blockquote>\n\n\n\n

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Marret G, Lamy C, Vacher S, Cabel L, S\u00e9n\u00e9 M, Ahmanache L, Courtois L, El Beaino Z, Klijanienko J, Martinat C, Servant N, Kamoun C, Maral\u00a0Halladjian M, Bronzini T, Balsat C, \u00a0Laes J-F, Pr\u00e9vot A, Sauvage S, Lienard M, Martin E, Kamal M. Deciphering molecular relapse and intra-tumor heterogeneity in non-metastatic resectable head and neck squamous cell carcinoma using circulating tumor DNA<\/a>.<\/strong> Oral Oncology .\u00a02024 Nov 28:160:107111.\u00a0doi: 10.1016\/j.oraloncology.2024.107111.<\/p>\n<\/blockquote>\n\n\n\n

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Facchinetti F, Loriot Y, Bray\u00e9 F, Vasseur D, Bahleda R, Bigot L, Barb\u00e9 R, Nobre C, Combarel D, Michiels S, Italiano A, Smolenschi C, Tselikas L, Scoazec JY, Ponce-Aix S, Besse B, Andr\u00e9 F, Olaussen KA, Hollebecque A, Friboulet L.<\/strong> Understanding and Overcoming Resistance to Selective FGFR Inhibitors across FGFR2-Driven Malignancies.<\/a><\/strong> Clin Cancer Res. 2024 Nov 1;30(21):4943-4956. doi: 10.1158\/1078-0432.CCR-24-1834. PMID: 39226398<\/p>\n<\/blockquote>\n\n\n\n

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Sami L, Chipaux M, Ferrand-Sorbets S, Doladilhe M, Bulteau C, Raffo E, Rosenberg S, Dorfmuller G, Checri R, De Sainte Agathe JM, Leguern E, Adle-Biassette H, Baldassari S, Baulac S. Genetic Insights Into Hypothalamic Hamartoma: Unraveling Somatic Variants.<\/strong><\/a> Neurol Genet. 2024 Sep 4;10(5):e200180. doi: 10.1212\/NXG.0000000000200180. PMID: 39246740; PMCID: PMC11380500.<\/p>\n<\/blockquote>\n\n\n\n

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Sanceau J, Poupel L, Joubel C, Lagoutte I, Caruso S, Pinto S, Desbois-Mouthon C, Godard C, Hamimi A, Montmory E, Dulary C, Chantalat S, Roehrig A, Muret K, Saint-Pierre B, Deleuze JF, Mouillet-Richard S, Forn\u00e9 T, Grosset CF, Zucman-Rossi J, Colnot S, Gougelet A.\u00a0DLK1\/DIO3 locus upregulation by a \u03b2-catenin-dependent enhancer drives cell proliferation and liver tumorigenesis<\/a><\/strong>. Mol Ther. 2024 Apr 3;32(4):1125-1143. doi: 10.1016\/j.ymthe.2024.01.036.<\/p>\n<\/blockquote>\n\n\n\n

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Zeitz C, Navarro J, Azizzadeh Pormehr L, M\u00e9j\u00e9case C, Neves LM, Letellier C, Condroyer C, Albadri S, Amprou A, Antonio A, Ben-Yacoub T, Wohlschlegel J, Andrieu C, Serafini M, Bianco L, Antropoli A, Nassisi M, El Shamieh S, Chantot-Bastaraud S, Mohand-Sa\u00efd S, Smirnov V, Sahel JA, Del Bene F, Audo I.\u00a0Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy<\/a><\/strong>. Genet Med. 2024 Jun;26(6):101081. doi: 10.1016\/j.gim.2024.101081.<\/p>\n<\/blockquote>\n\n\n\n

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Roehrig A,\u00a0Hirsch T,\u00a0Pire A,\u00a0Morcrette G,\u00a0Gupta B,\u00a0Marcaillou<\/strong> C,\u00a0Imbeaud S,\u00a0Chardot C,\u00a0Emmanuel Gonzales,\u00a0Jacquemin E,\u00a0Sekiguchi M,\u00a0Takita J,\u00a0Nagae G,\u00a0Hiyama E,\u00a0Gu\u00e9rin F,\u00a0Fabre M,\u00a0Isabelle Aerts,\u00a0Taque S,\u00a0Laithier V,\u00a0Branchereau S,\u00a0Guettier C,\u00a0Brugi\u00e8res L,\u00a0Fresneau B,\u00a0Zucman-Rossi J,\u00a0Letouz\u00e9 E.\u00a0Single-cell multiomics reveals the interplay of clonal evolution and cellular plasticity in hepatoblastoma<\/a><\/strong>. Nat Commun<\/em>.\u00a02024 Apr 8;15(1):3031.\u00a0doi: 10.1038\/s41467-024-47280-x.<\/p>\n<\/blockquote>\n\n\n\n

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Rengifo Rojas C, Cercy J, Perillous S, Gonthier-Gu\u00e9ret C, Montibus B, Maupetit-M\u00e9houas S, Espinadel A, Dupr\u00e9 M, Hong CC, Hata K, Nakabayashi K, Plagge A, Bouschet T, Arnaud P, Vaillant I, Court F.\u00a0Biallelic non-productive enhancer-promoter interactions precede imprinted expression of Kcnk9 during mouse neural commitment<\/a><\/strong>. HGG Adv. 2024 Apr 11;5(2):100271. doi: 10.1016\/j.xhgg.2024.100271..<\/p>\n<\/blockquote>\n\n\n\n

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Diallo M,\u00a0CourdierC, Mercier E,\u00a0Sequeira A,\u00a0Defay-Stinat A,\u00a0Plaisant C,\u00a0Mesdaghi s,\u00a0Rigden D,\u00a0Javerzat S,\u00a0Lasseaux E,\u00a0Bourgeade L,\u00a0Audebert-Bellanger S,\u00a0Dollfus H,\u00a0Hadj-Rabia S,\u00a0Morice-Picard F,\u00a0Philibert M,\u00a0Kole Sidib\u00e9 M,\u00a0Smirnov V,\u00a0Sylla O,\u00a0Michaud V,\u00a0Arveiler B.\u00a0Functional Characterization of Splice Variants in the Diagnosis of Albinism<\/a>.\u00a0<\/strong>Int J Mol Sci<\/em>.\u00a02024 Aug 8;25(16):8657.\u00a0doi: 10.3390\/ijms25168657<\/p>\n<\/blockquote>\n\n\n\n

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Arfeuille C, Vial Y, Cadenet M, Caye-Eude A, Fenneteau O, Neven Q, Bonnard AA, Pizzi S, Carpentieri G, Capri Y, Girardi K, Pedace L, Macchiaiolo M, Boudhar K, Khaled MB, Chahla WA, Lutun A, Fahd M, Drunat S, Flex E, Dalle JH, Strullu M, Locatelli F, Tartaglia M, Cav\u00e9 H.\u00a0Germline bi-allelic\u00a0SH2B3\/LNK<\/em>\u00a0alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorder<\/a>.\u00a0<\/strong>Haematologica. 2024 Aug 1;109(8):2542-2554. doi: 10.3324\/haematol.2023.283917<\/p>\n<\/blockquote>\n\n\n\n

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Puszkiel A, Dalenc F, Tafzi N, Marquet P, Debled M, Jacot W, Venat-Bouvet L, Ferrer C, Levasseur N, Paulon R, Dauba J, Evrard A, Mauri\u00e8s V, Filleron T, Chatelut E, Thomas F, White-Koning M.\u00a0Identification of non-adherence to adjuvant letrozole using a population pharmacokinetics approach in hormone receptor-positive breast cancer patients<\/a>.\u00a0<\/strong>Eur J Pharm Sci. 2024 Aug 1;199:106809. doi: 10.1016\/j.ejps.2024.106809<\/p>\n<\/blockquote>\n\n\n\n

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Ramh\u00f8j L, Svingen T, Evrard B, Chalmel F, Axelstad M.\u00a0Two thyroperoxidase-inhibiting chemicals induce shared transcriptional changes in hippocampus of developing rats<\/a>.\u00a0<\/strong>Toxicology. 2024 Jun;505:153822. doi: 10.1016\/j.tox.2024.153822<\/p>\n<\/blockquote>\n<\/div>\n\n\n\n

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2023<\/h2>\n\n\n\n
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Chagneau CV, Payros D, Goman A, Goursat C, David L, Okuno M, Bordignon PJ, S\u00e9guy C, Massip C, Branchu P, Ogura Y, Nougayr\u00e8de JP, Marenda M, Oswald E. Circulating DNA reveals a specific and higher fragmentation of the Y chromosome.<\/a><\/strong> Hum Genet. 2023 Nov;142(11):1603-1609. doi: 10.1007\/s00439-023-02600-x.<\/p>\n<\/blockquote>\n\n\n\n

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Thierry AR, Sanchez C, Colinge J, Pisareva E. HlyF, an underestimated virulence factor of uropathogenic Escherichia coli.<\/a><\/strong> Clin Microbiol Infect. 2023 Nov;29(11):1449.e1-1449.e9. doi: 10.1016\/j.cmi.2023.07.024.<\/p>\n<\/blockquote>\n\n\n\n

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L\u00ea H, Deforges J, Hua G, Idoux-Gillet Y, Pont\u00e9 C, Lindner V, Olland A, Falcoz PE, Zaupa C, Jain S, Qu\u00e9m\u00e9neur E, Benkirane-Jessel N, Balloul JM. In vitro<\/em> vascularized immunocompetent patient-derived model to test cancer therapies.<\/a><\/strong> iScience. 2023 Sep 29;26(10):108094. doi: 10.1016\/j.isci.2023.108094.<\/p>\n<\/blockquote>\n\n\n\n

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Schaeffer S, Gupta B, Calatayud AL, Calderaro J, Caruso S, Hirsch TZ, Pelletier L, Zucman-Rossi J, Rebouissou S. RSK2 inactivation cooperates with AXIN1 inactivation or \u03b2-catenin activation to promote hepatocarcinogenesis.<\/a><\/strong> J Hepatol. 2023 Sep;79(3):704-716. doi: 10.1016\/j.jhep.2023.05.004.<\/p>\n<\/blockquote>\n\n\n\n

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Shi MJ, Fontugne J, Moreno-Vega A, Meng XY, Groeneveld C, Dufour F, Kamoun A, Viborg Lindskrog S, Cabel L, Krucker C, Rapinat A, Dunois-Larde C, Lepage ML, Chapeaublanc E, Levrel O, Dixon V, Lebret T, Almeida A, De Reynies A, Rochel N, Dyrskj\u00f8t L, Allory Y, Radvanyi F, Bernard-Pierrot I. FGFR3 Mutational Activation Can Induce Luminal-like Papillary Bladder Tumor Formation and Favors a Male Sex Bias.<\/a><\/strong> Eur Urol. 2023 Jan;83(1):70-81. doi: 10.1016\/j.eururo.2022.09.030.<\/p>\n<\/blockquote>\n<\/div>\n\n\n\n

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Valentin Costes, Aur\u00e9lie Chaulot-Talmon, Eli Sellem, Jean-Philippe Perrier, Anne Aubert-Frambourg, Luc Jouneau, Charline Pontlevoy, Chris Hoz\u00e9, S\u00e9bastien Fritz, Mekki Boussaha, Chrystelle Le Danvic, Marie-Pierre Sanchez, Didier Boichard, Laurent Schibler, H\u00e9l\u00e8ne Jammes, Florence Jaffr\u00e9zic & H\u00e9l\u00e8ne Kiefer, Predicting male fertility from the sperm methylome: application to 120 bulls with hundreds of artificial insemination records<\/strong><\/a>. Clin Epigenet<\/em> 14<\/strong>, 54 (2022), https:\/\/doi.org\/10.1186\/s13148-022-01275-x.<\/p>\n<\/blockquote>\n\n\n\n

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Maxime Meylan, Florent Petitprez, Etienne Becht, Antoine Bougo\u00fcin, Guilhem Pupier, Anne Calvez, Ilenia Giglioli, Virginie Verkarre, Guillaume Lacroix, Johanna Verneau, Chen-Ming Sun, Pierre Laurent-Puig, Yann-Alexandre Vano, Reza Ela\u00efdi, Arnaud M\u00e9jean, Rafa\u00ebl Sanchez-Salas, Eric Barret, Xavier Cathelineau, Stephane Oudard, Claude-Agn\u00e8s Reynaud, Aur\u00e9lien de Reyni\u00e8s, Catherine Saut\u00e8s-Fridman, Wolf Herman Fridman, Tertiary lymphoid structures generate and propagate anti-tumor antibody-producing plasma cells in <\/strong><\/a>renal <\/strong>cell cance<\/strong>r<\/a>. Immunity<\/em>Volume 55, Issue 3, February 28, 2022, https:\/\/doi.org\/10.1016\/j.immuni.2022.02.001.<\/p>\n<\/blockquote>\n\n\n\n

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Karim Harhouri, Pierre Cau, Frank Casey, Koffi Mawuse Guedenon, Yassamine Doubaj, Lionel Van Maldergem, Gerardo Mejia-Baltodano, Catherine Bartoli, Annachiara De Sandre-Giovannoli, Nicolas L\u00e9vy.., MG132 Induces Progerin Clearance and Improves Disease Phenotypes in HGPS-like Patients' Cells<\/a>. <\/strong>Cells<\/em>. 2022; 11(4):610. https:\/\/doi.org\/10.3390\/cells11040610<\/p>\n<\/blockquote>\n\n\n\n

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Alexandre Perrat, Priscilla Branchu, Anouk Decors, Silvia Turci, Marie-H\u00e9l\u00e8ne Bayon-Auboyer, Geoffrey Petit, Vladimir Grosbois, Hubert Brug\u00e8re, Fr\u00e9d\u00e9ric Auvray, and Eric Oswald, Wild Boars as Reservoir of Highly Virulent Clone of Hybrid Shiga Toxigenic and Enterotoxigenic Escherichia coli Responsible for Edema Disease, France<\/a><\/strong>. Emerging Infectious Diseases. 2022;28(2):382-393. doi:10.3201\/eid2802.211491.<\/p>\n<\/blockquote>\n<\/div>\n\n\n\n

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Liu J, Ottaviani D, Sefta M, Desbrousses C, Chapeaublanc E, Aschero R, Sirab N, Lubieniecki F, Lamas G, Tonon L, Dehainault C, Hua C, Fr\u00e9neaux P, Reichman S, Karboul N, Biton A, Mirabal-Ortega L, Larcher M, Brulard C, Arrufat S, Nicolas A, Elarouci N, Popova T, N\u00e9mati F, Decaudin D, Gentien D, Baulande S, Mariani O, Dufour F, Guibert S, Vallot C, Rouic LL, Matet A, Desjardins L, Pascual-Pasto G, Su\u00f1ol M, Catala-Mora J, Llano GC, Couturier J, Barillot E, Schaiquevich P, Gauthier-Villars M, Stoppa-Lyonnet D, Golmard L, Houdayer C, Brisse H, Bernard-Pierrot I, Letouz\u00e9 E, Viari A, Saule S, Sastre-Garau X, Doz F, Carcaboso AM, Cassoux N, Pouponnot C, Goureau O, Chantada G, de Reyni\u00e8s A, Aerts I, Radvanyi F. High-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal\/ganglion cell gene expression.<\/a> Nat Commun. 2021 Sep 22;12(1):5578. doi: 10.1038\/s41467-021-25792-0.<\/p>\n<\/blockquote>\n\n\n\n

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Laquerriere A, Jaber D, Abiusi E, Maluenda J, Mejlachowicz D, Vivanti A, Dieterich K, Stoeva R, Quevarec L, Nolent F, Biancalana V, Latour P, Sternberg D, Capri Y, Verloes A, Bessieres B, Loeuillet L, Attie-Bitach T, Martinovic J, Blesson S, Florence Petit F, Beneteau C, Whalen S, Marguet F, Bouligand J, H\u00e9ron D, Viot G, Amiel J, Amram D, Bellesme C, Bucourt M, Faivre L , Jouk PS, Khung S, Sigaudy S, Delezoide AL, Goldenberg A, Jacquemont ML, Lambert L, Layet V, Lyonnet S, Munnich A, Van Maldergem L, Piard J, Guimiot F, Landrieu P, Letard P, Pelluard F, Perrin L, Saint-Frison MH, Topaloglu H, Trestard L, Vincent-Delorme C, Amthor H, Barnerias C, Benachi A, Bieth E, Boucher E, Cormier-Daire V, Delahaye-Duriez A, Desguerre I, Eymard B, Francannet C, Grotto S, Lacombe D, Laffargue F, Legendre M, Martin-Coignard D, M\u00e9garban\u00e9 A, Mercier S, Nizon M, Rigonnot L, Prieur F, Qu\u00e9lin C, Ranjatoelina-Randrianaivo H, Resta N , Toutain A, Verhelst H, Vincent M, Colin E, Fallet-Bianco C, Granier M, Grigorescu R, Saada J, Gonzales M, Guiochon-Mantel A, Bessereau JL, Tawk M, Gut I, Gitiaux C, Melki J. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita<\/a><\/strong>. J Med Genet 2021;0:1-9. doi:10.1136\/jmedgenet-2020-107595<\/p>\n<\/blockquote>\n\n\n\n

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Z Hirsch T, Pilet J, Morcrette G, Roehrig A, JE Monteiro B, Molina L, Bayard Q, Trepo E, Meunier L, Caruso S, Renault V, Deleuze JF, Fresneau B, Chardot C, Gonzales E, Jacquemin E, Guerin F, Fabre M, Aerts I, Taque S, Laithier V, Branchereau S, Guettier C, Brugieres L, Rebouissou S, Letouze E and Zucman-Rossi J. Integrated genomic analysis identifies driver genes and cisplatin-resistant progenitor phenotype in pediatric liver cancer<\/a><\/strong>. American Association for Cancer Research 2021 April 23. doi: 10.1158\/2159-8290.CD-20-1809<\/p>\n<\/blockquote>\n\n\n\n

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Christina Zeitz, C\u00e9cile M\u00e9j\u00e9case, Christelle Michiels, Christel Condroyer, Juliette Wohlschlegel, Marine Foussard, Aline Antonio, Vanessa D\u00e9montant, Lisa Emmenegger, Audrey Schalk, Marion Neuill\u00e9, Elise Orhan, S\u00e9bastien Augustin, Crystel Bonnet, Amrit Estivalet, Fr\u00e9d\u00e9ric Blond, Steven Blanchard<\/strong>Camille Andrieu, Sandra Chantot-Bastaraud, Thierry L\u00e9veillard, Saddek Mohand-Sa\u00efd, Jo\u00e9-Alain Sahel, Isabelle Audo,Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy<\/a><\/strong>. Int. J. Mol. Sci. 2021, 22(15), 7875; https:\/\/doi.org\/10.3390\/ijms22157875<\/p>\n<\/blockquote>\n\n\n\n

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Camille V. Chagneau ,Cl\u00e9mence Massip ,Nad\u00e8ge Bossuet-Greif,Christophe Fremez,Jean-Paul Motta,Ayaka Shima,C\u00e9line Besson,Pauline Le Faouder,Nicolas C\u00e9nac,Marie-Paule Roth,H\u00e9l\u00e8ne Coppin,Maxime Fontani\u00e9,Patricia Martin,Jean-Philippe Nougayr\u00e8de ,Eric Oswald. Uropathogenic E. coli induces DNA damage in the bladder.<\/a><\/strong> PLoS Pathog 17(2): e1009310<\/p>\n<\/blockquote>\n\n\n\n

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Mournetas V, Massourid\u00e8s E, Dupont JB, Kornobis E, Polv\u00e8che H, Jarrige M, R.L. Dorval A, R.F. Gosselin M, Manousopoulou A, D. Garbis S, C. G\u00f3recki D, Pinset C. Myogenesis modelled by human pluripotent stem cells: a multi-omic study of Duchenne myopathy early onset<\/a><\/strong>. Journal of Cachexia, Sarcopenia and Muscle 2021; 12: 209-232<\/p>\n<\/blockquote>\n\n\n\n

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Malgorzata Marta Drozd, Maria Capovilla, Carlo Previder\u00e9, Mauro Grossi, Florence Askenazy, Barbara Bardoni, Arnaud Fernandez,A Pilot Study on Early-Onset Schizophrenia Reveals the Implication of Wnt, Cadherin and Cholecystokinin Receptor Signaling in Its Pathophysiology<\/a><\/strong>. Front. Genet, December 17, 2021<\/p>\n<\/blockquote>\n\n\n\n

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Ana\u00efs Le Nabec, M\u00e9gane Collobert, C\u00e9dric Le Mar\u00e9chal, R\u00e9mi Marianowski, Claud F\u00e9rec, St\u00e9phanie Moisan,Whole-Genome Sequencing Improves the Diagnosis of DFNB1 Monoallelic Patients<\/a><\/strong>. Genes 2021, 12(8), 1267; https:\/\/doi.org\/10.3390\/genes12081267<\/p>\n<\/blockquote>\n<\/div>\n\n\n\n

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2020<\/h2>\n\n\n\n
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Sanson M, Vu Hong A, Massourides E, Bourg N, Suel L, Amor F, Corre G, B\u00e9nit P, Barth\u00e9l\u00e9my I, Blot S, Bigot A, Pinset C, Rustin P, Servais L, Voit T, Richard I, Israeli D. miR-379 links glucocorticoid treatment with mitochondrial response in Duchenne muscular dystrophy<\/a><\/strong>. Sci Rep. 2020 Jun 4;10(1):9139. doi: 10.1038\/s41598-020-66016-7.<\/p>\n<\/blockquote>\n<\/div>\n\n\n\n

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Zeitz C, Michiels C, Neuill\u00e9 M , Friedburg C, Condroyer C, Boyard F, Antonio A, Bouzidi N, Milicevic D, Veaux R, Tourville A, Zoumba A, Seneina I, Foussard M, Andrieu C, N Preising M, Blanchard S, Saraiva JP, Mesrob L, Le Floch E, Jubin C, Meyer V, Blanch\u00e9 H, Boland A, Deleuze JF, Sharon D, Drumare I, Defoort-Dhellemmes S, De Baere E, Leroy BP, Zanlonghi X , Casteels I , de Ravel TJ , Balikova I, K Koenekoop R, Laffargue F, McLean R, Gottlob I, Bonneau D, Schorderet DF, L Munier F, McKibbin M, Prescott K, Pelletier V, Dollfus H, Perdomo-Trujillo Y, Faure C, 0, Reiff C, Wissinger B, Meunier I, Kohl S, Banin E, Zrenner E, Jurklies B, Lorenz B, Sahel J , Audo I. Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders<\/a><\/strong>. Hum Mutat. 2019 Mar 2. doi: 10.1002\/humu.23735<\/p>\n<\/blockquote>\n\n\n\n

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Rospo G Lorenzato A, Amirouchene-Angelozzi N, Magr\u00ec A, Cancelliere C, Corti G, Negrino C, Amodio V, Montone M, Bartolini A, Barault L, Novara L, Isella C, Medico E, Bertotti A, Trusolino L, Germano G, Di Nicolantonio F, Bardelli A. Evolving neoantigen profiles in colorectal cancers with DNA repair defects<\/a><\/strong>.Genome Med. 2019 Jun 28;11(1):42. doi: 10.1186\/s13073-019-0654-6.<\/p>\n<\/blockquote>\n\n\n\n

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Laurent-Puig P, Grisoni ML, Heinemann V, Liebaert F, Neureiter D, Jung A, Montestruc F, Gaston-Mathe Y, Thi\u00e9baut R<\/strong>, Stintzing S. Validation of miR-31-3p Expression to Predict Cetuximab Efficacy When Used as First-Line Treatment in RAS<\/em> Wild-Type Metastatic Colorectal Cancer.<\/a> Clin Cancer Res. 2019 Jan 1;25(1):134-141. doi: 10.1158\/1078-0432.CCR-18-1324.<\/p>\n<\/blockquote>\n<\/div>\n\n\n\n

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2018<\/h2>\n\n\n\n
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Siravegna G, Lazzari L, Crisafulli G, Sartore-Bianchi A, Mussolin B, Cassingena A, Martino C, Lanman RB, Nagy RJ, Fairclough S, Rospo G, Corti G, Bartolini A, Arcella P, Montone M, Lodi F, Lorenzato A, Vanzati A, Waltta E, Cappello G, Bertotti A, Lonardi S, Zagonel V, Leone F, Russo M, Balsamo A, Truini M, Di Nicolantonio F, Amatu A, Bonazzina E, Ghezzi S, Regge D, Vanzulli A, Trusolino L, Siena S, Marsoni S, Bardelli A. Radiologic and genomic evolution of individual metastases during HER2 blockade in colorectal cancer<\/a>.<\/strong> Cancer Cell. 2018; 34:148-162.e7. doi: 10.1016\/j.ccell.2018.06.004.<\/p>\n<\/blockquote>\n\n\n\n

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Lomberk G, Blum Y, Nicolle R, Nair A, Gaonkar KS, Marisa L, Mathison A, Sun Z, Yan H, Elarouci N, Armenoult L, Ayadi M, Ordog T, Lee JH, Oliver G, Klee E, Moutardier V, Gayet O, Bian B, Duconseil P, Gilabert M, Bigonnet M, Garcia S, Turrini O, Delpero JR, Giovannini M, Grandval P, Gasmi M, Secq V, De Reyni\u00e8s A, Dusetti N, Iovanna J, Urrutia R. Distinct epigenetic landscapes underlie the pathobiology of pancreatic cancer subtypes<\/a>. Nat Common<\/strong>. 2018 May 17;9(1):1978. doi: 10.1038\/s41467-018-04383-6.<\/p>\n<\/blockquote>\n\n\n\n

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Debiec H, Dossier C, Letouz\u00e9 E, Gillies CE, Vivarelli M, Putler RK, Ars E, Jacqz-Aigrain E, Elie V, Colucci M, Debette S, Amouyel P, Elalaoui SC, Sefiani A, Dubois V, Simon T, Kretzler M, Ballarin J, Emma F, Sampson MG, Desch\u00eanes G, Ronco P. Transethnic, genome-wide analysis reveals immune-related risk alleles and phenotypic correlates in pediatric steroid-sensitive nephrotic syndrome<\/a><\/strong>. J Am Soc Nephrol. 2018 Jun 14. pii: ASN.2017111185. doi: 10.1681\/ASN.2017111185.<\/p>\n<\/blockquote>\n\n\n\n

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Russo M, Lamba S, Lorenzato A, Sogari A, Corti G, Rospo G, Mussolin B, Montone M, Lazzari L, Arena S, Oddo D, Linnebacher M, Sartore-Bianchi A, Pietrantonio F, Siena S, Di Nicolantonio F, Bardelli A. Reliance upon ancestral mutations is maintained in colorectal cancers that heterogeneously evolve during targeted therapies<\/a><\/strong>. Nat Commun. 2018; 9:2287. doi: 10.1038\/s41467-018-04506-z.<\/p>\n<\/blockquote>\n\n\n\n

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M\u00e9j\u00e9case C, Hummel A, Mohand-Sa\u00efd S, Andrieu C, El Shamieh S, Antonio A, Condroyer C, Boyard F1, Foussard M, Blanchard S, Letexier M<\/strong>, Saraiva JP<\/strong>Sahel JA, Zeitz C, Audo I. Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy<\/a><\/strong>. Clin Genet. 2019 Feb.95(2):329-333. doi: 10.1111\/cge.13453. Epub 2018 Nov 4.<\/p>\n<\/blockquote>\n\n\n\n

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Lehmann-Che J, Bally C, Letouz\u00e9 E<\/strong>Berthier C, Yuan H, Jollivet F, Ades L, Cassinat B, Hirsch P, Pigneux A, Mozziconacci MJ, Kogan S, Fenaux P, de Th\u00e9 H. Dual origin of relapses in retinoic-acid resistant acute promyelocytic leukemia<\/a>.<\/strong> Nat Commun. 2018 May 24;9(1):2047. doi: 10.1038\/s41467-018-04384-5.<\/p>\n<\/blockquote>\n\n\n\n

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Ramon L, David C, Fontaine K, Lallet E, Marcaillou C, Martin-Lanner\u00e9e S, Decaulne V, Vazart C, G\u00e9libert AH, Abdelali RB, Costa JM, Rousseau F, Thi\u00e9baut R<\/strong>, Yost L, Gaston-Math\u00e9 Y. Technical Validation of a Reverse-Transcription Quantitative Polymerase Chain Reaction In Vitro Diagnostic Test for the Determination of miR-31-3p Expression Levels in Formalin-Fixed Paraffin-Embedded Metastatic Colorectal Cancer Tumor Specimens<\/a>.<\/strong> Biomark Insights. 2018 Mar 16;13:1177271918763357. doi: 10.1177\/1177271918763357.<\/p>\n<\/blockquote>\n<\/div>\n\n\n\n

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Nicolle R, Blum Y, Marisa L, Loncle C, Gayet O, Moutardier V, Turrini O, Giovannini M, Bian B, Bigonnet M, Rubis M, Elarouci N, Armenoult L, Ayadi M, Duconseil P, Gasmi M, Ouaissi M, Maignan A, Lomberk G, Boher JM, Ewald J, Bories E, Garnier J, Goncalves A, Poizat F, Raoul JL, Secq V, Garcia S, Grandval P, Barraud-Blanc M, Norguet E, Gilabert M, Delpero JR, Roques J, Calvo E, Guillaumond F, Vasseur S, Urrutia R, de Reyni\u00e8s A, Dusetti N, Iovanna J. Pancreatic adenocarcinoma therapeutic targets revealed by tumor-stroma cross-talk analyses in patient-derived xenografts<\/a>.<\/strong> Cell Rep. 2017 Nov 28;21(9):2458-2470. doi: 10.1016\/j.celrep.2017.11.003.<\/p>\n<\/blockquote>\n\n\n\n

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Bian B, Bigonnet M, Gayet O, Loncle C, Maignan A, Gilabert M, Moutardier V, Garcia S, Turrini O, Delpero JR, Giovannini M, Grandval P, Gasmi M, Ouaissi M, Secq V, Poizat F, Nicolle R, Blum Y, Marisa L, Rubis M, Raoul JL, Bradner JE, Qi J, Lomberk G, Urrutia R, Saul A, Dusetti N, Iovanna J. Gene expression profiling of patient-derived pancreatic cancer xenografts predicts sensitivity to the BET bromodomain inhibitor JQ1: implications for individualized medicine efforts<\/a><\/strong>. EMBO Mol Med. 2017 Apr;9(4):482-497. doi: 10.15252\/emmm.201606975.<\/p>\n<\/blockquote>\n\n\n\n

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Germano G, Lamba S, Rospo G, Barault L, Magr\u00ec A, Maione F, Russo M, Crisafulli G, Bartolini A, Lerda G, Siravegna G, Mussolin B, Frapolli R, Montone M, Morano F, de Braud F, Amirouchene-Angelozzi N, Marsoni S, D'Incalci M, Orlandi A, Giraudo E, Sartore-Bianchi A, Siena S, Pietrantonio F, Di Nicolantonio F, Bardelli A. Inactivation of DNA repair triggers neoantigen generation and impairs tumour growth<\/a>.<\/strong> Nature. 2017; 552:116-20. doi: 10.1038\/nature24673. Epub 2017 Nov 29.<\/p>\n<\/blockquote>\n\n\n\n

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Letouz\u00e9 E<\/strong>Shinde J, Renault V, Couchy G, Blanc JF, Tubacher E, Bayard Q, Bacq D, Meyer V, Semhoun J, Bioulac-Sage P1, Pr\u00e9v\u00f4t S, Azoulay D, Paradis V, Imbeaud S, Deleuze JF, Zucman-Rossi J. Mutational signatures reveal the dynamic interplay of risk factors and cellular processes during liver tumorigenesis<\/a><\/strong>. Nat Commun. 2017; 8:1315. doi: 10.1038\/s41467-017-01358-x.<\/p>\n<\/blockquote>\n\n\n\n

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Koeppel F, Blanchard S<\/strong>Jovelet C, Genin B<\/strong>, Marcaillou C<\/strong>, Martin E<\/strong>Rouleau E, Solary E, Soria JC, Andr\u00e9 E, Lacroix L. Whole exome sequencing for determination of tumor mutation load in liquid biopsy from advanced cancer patients<\/a>.<\/strong> PLOS One. November 21, 2017. https:\/\/doi.org\/10.1371\/journal.pone.0188174<\/p>\n<\/blockquote>\n\n\n\n

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Machado L, Esteves de Lima J, Fabre O, Proux C, Legendre R, Szegedi A, Varet H, Roed Ingerslev L, Barr\u00e8s R, Relaix F, Mourikis P. In Situ Fixation Redefines Quiescence and Early Activation of Skeletal Muscle Stem Cells<\/a><\/strong>. CELL Report. November 2017, doi: 10.1016\/j.celrep.2017.10.080<\/p>\n<\/blockquote>\n\n\n\n

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Pugh S, Thi\u00e9baut R<\/strong>, Bridgewater J, Grisoni ML, Moutasim K, Rousseau F, Thomas GJ, Griffiths G, Liebaert F, Primrose J, Laurent-Puig P. Association between miR-31-3p expression and cetuximab efficacy in patients with KRAS wild-type metastatic colorectal cancer: a post-hoc analysis of the New EPOC trial<\/a><\/strong>. Oncotarget. 2017 Sep 27;8(55):93856-93866. doi: 10.18632\/oncotarget.21291.<\/p>\n<\/blockquote>\n<\/div>\n\n\n\n

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Grandemange S,Sanchez E, Louis-Plence P, Tran Mau-Them F, Bessis D, Coubes C, Frouin E, Seyger M, Girard M, Puechberty J, Costes V, Rodi\u00e8re M, Carbasse A, Jeziorski E, Portales P, Sarrabay G, Mondain M, Jorgensen C, Apparailly F, Hoppenreijs E, Touitou I, Genevi\u00e8ve D. A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis)<\/a><\/strong>. Ann Rheum Dis annrheumdis-2016-210021, Published Online First: 13 December 2016, doi:10.1136<\/p>\n<\/blockquote>\n\n\n\n

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Plassais J , Lagoutte L , Correard S ,Paradis M, Guagu\u00e8re E, H\u00e9dan B, Pommier A, Botherel N, Cadiergues MC , Pilorge P , Silversides D, Bizot M, Samuels M, Arnan C, Johnson R, Hitte C, Salbert G, M\u00e9reau A, Quignon P, Derrien T, Andr\u00e9 C A Point Mutation in a lincRNA Upstream of GDNF Is Associated to a Canine Insensitivity to Pain: A Spontaneous Model for Human Sensory Neuropathies<\/a>.<\/strong> Special Issue on Cancer Genomics. 2016; doi.org\/10.1371\/journal.pgen.1006482<\/p>\n<\/blockquote>\n\n\n\n

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Poggi M, Canault M, Favier M, Turro E, Saultier P, Ghalloussi D, Baccini V, Vidal L, Mezzapesa A, Chelghoum N, Mohand-Oumoussa B, Falaise CL, Favier R, Ouwehand WH, Fiore M, Peiretti F, Morange PE, Saut N, Bernot D, Greinacher A, Nurden AT, Nurden P, Freson K, Tr\u00e9gou\u00ebt DA, Raslova H, Alessi MC. Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors<\/a>.<\/strong> Haematologica. 2016 Sep 23.Doi:10.3324\/haematol.2016.147694.<\/p>\n<\/blockquote>\n\n\n\n

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Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, M Lef\u00e8vre G, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Sa\u00efd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glava\u010d D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria M.A, Catala Mora J, Dad S, B M\u00f8ller L, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel J.A, Marlin S, Zrenner E, Audo I. and Petit C. An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. European Journal of Human Genetics. 2016; doi: 10.1038\/ejhg.2016.99.<\/p>\n<\/blockquote>\n\n\n\n

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Kamoun A, Idbaih A, Dehais C, Elarouci N, Carpentier C, Letouz\u00e9 E<\/strong>Colin C, Mokhtari K, ouvet A, Uro-Coste E, Martin-Duverneuil N, MSanson M, Delattre JY, Figarella-Branger D, de Reyni\u00e8s A, Ducray F, POLA network. Integrated multi-omics analysis of oligodendroglial tumours identifies three subgroups of 1p\/19q co-deleted gliomas<\/a><\/strong>. Nat Commun. 2016; 7: 11263. Published online 2016 Apr 19. doi: 10.1038\/ncomms11263<\/p>\n<\/blockquote>\n\n\n\n

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Hirsch P, Zhang Y, Tang R, Joulin V, Boutroux H, Pronier E, Moatti H, Flandrin P, Marzac C, Bories D, Fava F, Mokrani H, Betems A, Lorre F, Favier R, F\u00e9ger F, Mohty M, Douay L, Legrand O, Bilhou-Nabera C, Louache F, Delhommeau F. Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia<\/a><\/strong>. Nat Commun. 2016; 7:12475. doi: 10.1038\/ncomms12475.<\/p>\n<\/blockquote>\n\n\n\n

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Fiore M, Goulas C, Pillois X. A new mutation in TUBB1 associated with thrombocytopenia confirms that C-terminal part of \u03b21-tubulin plays a role in microtubule assembly<\/a>.<\/strong> Clin Genet. 2016. OI: 10.1111\/cge.12879<\/p>\n<\/blockquote>\n\n\n\n

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Neuill\u00e9 M, Malaichamy S, Vadal\u00e0 M, Michiels C, Condroyer C, Sachidanandam R, Srilekha S, Arokiasamy T, Letexier M<\/strong>D\u00e9montant V, Sahel JA, Sen P, Audo I, Soumittra N, Zeitz C. Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness (CSNB)<\/a>.<\/strong> Clin Genet. 2016 Jan 29. doi: 10.1111\/cge.12746.<\/p>\n<\/blockquote>\n\n\n\n

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Chassaing N, Davis EE, McKnight KL, Niederriter AR, Causse A, David V, Desmaison A, Lamarre S, Vincent-Delorme C, Pasquier L, Coubes C, Lacombe D, Rossi M, Dufier JL, Dollfus H, Kaplan J, Katsanis N, Etchevers HC, Faguer S, Calvas P. Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network<\/a>,<\/strong> Genome Res. 2016; doi: 10.1101\/gr.196048.115.<\/p>\n<\/blockquote>\n\n\n\n

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Fauchereau F, Shalev S, Chervinsky E, Beck-Fruchter R, Legois B, Fellous M, Caburet S, Veitia RA.., A non-sense MCM9 mutation in a familial case of primary ovarian insuficiency<\/a><\/strong>. Clin Genet 2016. \u00a9 John Wiley & Sons A\/S. Published by John Wiley & Sons Ltd, 2016.<\/p>\n<\/blockquote>\n<\/div>\n\n\n\n

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2015<\/h2>\n\n\n\n
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Boillot M, Morin-Brureau M, Picard F, Weckhuysen S, Lambrecq V, Minetti C, Striano P, Zara F, Lacomino M, Ishida S, An-Gourfinkel I, Daniau M, Hardies K, Baulac M, Dulac O, Leguern E, Nabbout R, Baulac S. Novel GABRG2 mutations cause familial febrile seizures<\/a><\/strong>Neurology Genetics. 2015; 1:e35; doi: 10.1212\/NXG.0000000000000035<\/p>\n<\/blockquote>\n\n\n\n

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Piqueret-Stephan L, Marcaillou C<\/strong>Reyes C, Honor\u00e9 A, Letexier M<\/strong>Gentien D, Droin N, Lacroix L, Scoazec JY, Vielh P. Massively parallel DNA sequencing from routinely processed cytological smears<\/a>.<\/strong> Cancer Cytopathology; 2015 Oct 27, doi: 10.1002\/cncy.21639<\/p>\n<\/blockquote>\n\n\n\n

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Caye A, Strullu M, Guidez F, Cassinat B, Gazal S, Fenneteau O, Lainey E, Nouri K, Nakhaei-Rad S, Dvorsky R, Lachenaud J, Pereira S, Vivent J, Verger E, Vidaud D, Galambrun C, Picard C, Petit A, Contet A, Poir\u00e9e M, Sirvent N, M\u00e9chinaud F, Adjaoud D, Paillard C, Nelken B, Reguerre Y, Bertrand Y, H\u00e4ussinger D, Dalle JH, Ahmadian MR, Baruchel A, Chomienne C, Cav\u00e9 H. Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network<\/a><\/strong>. Nat Genet. 2015 Oct 12. doi: 10.1038\/ng.3420.<\/p>\n<\/blockquote>\n\n\n\n

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Nault JC, Datta S, Imbeaud S, Franconi A, Mallet M, Couchy G, Letouz\u00e9 E<\/strong>Pilati C, Verret B, Blanc JF, Balabaud C, Calderaro J, Laurent A, Letexier M<\/strong>Bioulac-Sage P, Calvo F, Zucman-Rossi J. Recurrent AAV2-related insertional mutagenesis in human hepatocellular carcinomas<\/a><\/strong>. Nat Genet. 2015 Aug 24. doi: 10.1038\/ng.3389.<\/p>\n<\/blockquote>\n\n\n\n

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Boucret L, Chao de la Barca JM, Morini\u00e8re C, Desquiret V, Ferr\u00e9-L'H\u00f4tellier V, Descamps P, Marcaillou C, Reynier P, Procaccio V, May-Panloup P. Relationship between diminished ovarian reserve and mitochondrial biogenesis in cumulus cells. Hum Reprod. 2015 Jul;30(7):1653-64. doi: 10.1093\/humrep\/dev114.<\/p>\n<\/blockquote>\n\n\n\n

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Boulanger-Scemama E, El Shamieh S, D\u00e9montant V, Condroyer C, Antonio A, Michiels C, Boyard F, Saraiva JP<\/strong>, Letexier M<\/strong>Souied E, Mohand-Sa\u00efd S, Sahel JA, Zeitz C, Audo I. Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation<\/a><\/strong>. Orphanet J Rare Dis. 2015 Jun 24;10(1):85.<\/p>\n<\/blockquote>\n\n\n\n

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Huckert M, Stoetzel C, Morkmued S, Laugel-Haushalter V, Geoffroy V, Muller J, Clauss F, Prasad MK, Obry F, Raymond JL, Switala M, Alembik Y, Soskin S, Mathieu E, Hemmerl\u00e9 J, Weickert JL, Dabovic BB, Rifkin DB, Dheedene A, Boudin E, Caluseriu O, Cholette MC, Mcleod R, Antequera R, Gell\u00e9 MP, Coeuriot JL, Jacquelin LF, Bailleul-Forestier I, Mani\u00e8re MC, Van Hul W, Bertola D, Doll\u00e9 P, Verloes A, Mortier G, Dollfus H, Bloch-Zupan A. Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta<\/a>.<\/strong> Hum Mol Genet. 2015 Jun 1; 24(11): 3038-3049. doi: 10.1093\/hmg\/ddv053.<\/p>\n<\/blockquote>\n\n\n\n

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Schulze K, Imbeaud S, Letouz\u00e9 E<\/strong>Alexandrov LB, Calderaro J, Rebouissou S, Couchy G, Meiller C, Shinde J, Soysouvanh F, Calatayud AL, Pinyol R, Pelletier L, Balabaud C, Laurent A, Blanc JF, Mazzaferro V, Calvo F, Villanueva A, Nault JC, Bioulac-Sage P, Stratton MR, Llovet JM, Zucman-Rossi J. Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets<\/a><\/strong>. Nat Genet. 2015 May;47(5):505-11. doi: 10.1038\/ng.3252.<\/p>\n<\/blockquote>\n\n\n\n

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Coutelier M, Burglen L, Mundwiller E, Abada-Bendib M, Rodriguez D, Chantot-Bastaraud S, Rougeot C, Cournelle M-A, Milh M, Toutain A, Bacq D, Meyer V, Afenjar A, Deleuze J-F, Brice A, H\u00e9ron D, Stevanin G, and Durr A, GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia<\/a><\/strong>. Neurology ; 2015 April ;84:1-9<\/p>\n<\/blockquote>\n\n\n\n

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Patten SA, Margaritte-Jeannin P, Bernard JC, Alix E, Labalme A, Besson A, Girard SL, Fendri K, Fraisse N, Biot B, Poizat C, Campan-Fournier A, Abelin-Genevois K, Cunin V, Zaouter C, Liao M, Lamy R, Lesca G, Menassa R, Marcaillou C<\/strong>, Letexier M<\/strong>Sanlaville D, Berard J, Rouleau GA, Clerget-Darpoux F, Drapeau P, Moldovan F, Edery P. Functional variants of POC5 identified in patients with idiopathic scoliosis<\/a>. J Clin Invest. 2015 Mar 2;125(3):1124-8. doi: 10.1172\/JCI77262.<\/strong><\/p>\n<\/blockquote>\n\n\n\n

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Riahi Z, Bonnet C, Zainine R, Lahbib S, Bouyacoub Y, Bechraoui R, Marrakchi J, Hardelin JP, Louha M, Largueche L, Ben Yahia S, Kheirallah M, Elmatri L, Besbes G, Abdelhak S, Petit C. Whole exome sequencing identifies mutations in usher syndrome genes in profoundly deaf tunisian patients<\/a>.<\/strong> PLoS One. 2015 Mar 23;10(3):e0120584. doi: 10.1371\/journal.pone.0120584.<\/p>\n<\/blockquote>\n\n\n\n

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El Shamieh S, Boulanger-Scemama E, Lancelot ME, Antonio A, D\u00e9montant V, Condroyer C, Letexier M<\/strong>, Saraiva JP<\/strong>Mohand-Sa\u00efd S, Sahel JA, Audo I, Zeitz C. Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy<\/a><\/strong>. Biomed Res Int. 2015;2015:485624. doi: 10.1155\/2015\/485624. Epub 2015 Jan 6.<\/p>\n<\/blockquote>\n\n\n\n

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Lossos A, St\u00fcmpfig C, Stevanin G, Gaussen M, Zimmerman B, Mundwiller E,Asulin M, Chamma L, Sheffer R, Misk A, Dotan S, M. Gomori J, Ponger P, Brice A, Lerer I, Meiner V, Lill R. Fe\/S protein assembly gene IBA57mutation causes hereditary spastic paraplegia<\/a><\/strong>. Neurology ; 2015 Jan ; doi: 10.1212\/WNL.001270.<\/p>\n<\/blockquote>\n<\/div>\n\n\n\n

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Mathieu Barbier, Marie-Sylvie Gross, M\u00e9lodie Aubart, Nadine Hanna, Ketty Kessler, Dong-Chuan Guo, Laurent Tosolini, Benoit Ho-Tin-Noe, Ellen Regalado, Mathilde Varret, Marianne Abifadel, Olivier Milleron, Sylvie Odent, Sophie Dupuis-Girod, Laurence Faivre, Thomas Edouard,Yves Dulac,Tiffany Busa, Laurent Gouya, Dianna M. Milewicz, Guillaume Jondeau, and Catherine Boileau. MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections<\/a><\/strong>Am. J Hum Genet. 2014 Dec 4; 95(6): 736-743.doi:10.1016\/j.ajhg.2014.10.018.<\/p>\n<\/blockquote>\n\n\n\n

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Dorboz I, Lain\u00e9 J, Stevanin G, Bonne G, Boespflug-Tanguy O ,Servais L, Coutelier M, T Bertrand A, J Caberg J-H, Elaleh-Berg\u00e8s M. Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1<\/a><\/strong>; Orphanet Journal of Rare Diseases 2014, 9:174 doi:10.1186\/s13023-014-0174-9<\/p>\n<\/blockquote>\n\n\n\n

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Auclair G, Guibert S<\/strong>Bender A, Weber M. Ontogeny of CpG island methylation and specificity of DNMT3 methyltransferases during embryonic development in the mouse<\/a><\/strong>. Genome Biol. 2014 Dec 3;15(12):545.<\/p>\n<\/blockquote>\n\n\n\n

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Persoons A, Morin E, Delaruelle C, Payen T, Halkett F, Frey P, De Mita S, Duplessis S. Patterns of genomic variation in the poplar rust fungus Melampsora larici-populina identify pathogenesis-related factors<\/a>.<\/strong> Front Plant Sci. 2014 Sep 15;5:450. doi: 10.3389\/fpls.2014.00450.<\/p>\n<\/blockquote>\n\n\n\n

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Pernaci M, De Mita S, Andrieux A, P\u00e9trowski J, Halkett F, Duplessis S, Frey P. Genome-wide patterns of segregation and linkage disequilibrium: the construction of a linkage genetic map of the poplar rust fungus Melampsora larici-populina<\/a><\/strong>. Front Plant Sci. 2014 Sep 10;5:454. doi: 10.3389\/fpls.2014.00454<\/p>\n<\/blockquote>\n\n\n\n

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Strullu M, Caye A, Lachenaud J, Cassinat B, Gazal S, Fenneteau O, Pouvreau N, Pereira S, Baumann C, Contet A, Sirvent N, M\u00e9chinaud F, Guellec I, Adjaoud D, Paillard C, Alberti C, Zenker M, Chomienne C, Bertrand Y, Baruchel A, Verloes A, Cav\u00e9 H. Juvenile myelomonocytic leukaemia and Noonan syndrome<\/a><\/strong>. J Med Genet. 2014 Oct;51(10):689-97. doi: 10.1136\/jmedgenet-2014-102611.<\/p>\n<\/blockquote>\n\n\n\n

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Pepermans E, Michel V, Goodyear R, Bonnet C, Abdi S, Dupont T, Gherbi S, Holder M, Makrelouf M, Hardelin JP, Marlin S, Zenati A, Richardson G, Avan P, Bahloul A, Petit C. The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells<\/a>.<\/strong> EMBO Mol Med. 2014 Jun 17;6(7):984-92. doi: 0.15252\/emmm.201403976.<\/p>\n<\/blockquote>\n\n\n\n

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Riahi Z, Bonnet C, Zainine R, Louha M, Bouyacoub Y, Laroussi N, Chargui M, Kefi R, Jonard L, Dorboz I, Hardelin JP, Salah SB, Levilliers J, Weil D, McElreavey K, Boespflug OT, Besbes G, Abdelhak S, Petit C. Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness<\/a>.<\/strong> PLoS One. 2014 Jun 13;9(6):e99797. doi: 10.1371\/journal.pone.0099797.<\/p>\n<\/blockquote>\n\n\n\n

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Behlouli A, Bonnet C, Abdi S, Bouaita A, Lelli A, Hardelin JP, Schietroma C, Rous Y, Louha M, Cheknane A, Lebdi H, Boudjelida K, Makrelouf M, Zenati A, Petit C. EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness<\/a>.<\/strong> Orphanet J Rare Dis. 2014 Apr 17;9:55. doi: 10.1186\/1750-1172-9-55.<\/p>\n<\/blockquote>\n\n\n\n

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El Shamieh S, Neuill\u00e9 M, Terray A, Orhan E, Condroyer C, D\u00e9montant V, Michiels C, Antonio A, Boyard F, Lancelot ME, Letexier M<\/strong>, Saraiva JP<\/strong>L\u00e9veillard T, Mohand-Sa\u00efd S, Goureau O, Sahel JA, Zeitz C, Audo I. Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy<\/a><\/strong>. Am J Hum Genet. 2014 Apr 3;94(4):625-33. doi: 10.1016\/j.ajhg.2014.03.005.<\/p>\n<\/blockquote>\n\n\n\n

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Scheidecker S, Etard C, Pierce NW, Geoffroy V, Schaefer E, Muller J, Chennen K, Flori E, Pelletier V, Poch O, Marion V, Stoetzel C, Str\u00e4hle U, Nachury MV, Dollfus H. Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)<\/a>.<\/strong> J Med Genet. 2014 Feb;51(2):132-6. doi: 10.1136\/jmedgenet-2013-101785. Epub 2013 Sep 11.<\/p>\n<\/blockquote>\n\n\n\n

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Audo I, Bujakowska K, Orhan E, El Shamieh S, Sennlaub F, Guillonneau X, Antonio A, Michiels C, Lancelot ME, Letexier M<\/strong>, Saraiva JP<\/strong>Nguyen H, Luu TD, L\u00e9veillard T, Poch O, Dollfus H, Paques M, Goureau O, Mohand-Sa\u00efd S, Bhattacharya SS, Sahel JA, Zeitz C. The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family<\/a><\/strong>. Hum Mol Genet. 2014 Jan 15;23(2):491-501. doi: 10.1093\/hmg\/ddt439.<\/p>\n<\/blockquote>\n\n\n\n

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Manceau G, Imbeaud S, Thi\u00e9baut R<\/strong>, Li\u00e9baert F, Fontaine K, Rousseau F, G\u00e9nin B, Le Corre D, Didelot A, Vincent M, Bachet JB, Chibaudel B, Bouch\u00e9 O, Landi B, Bibeau F, Leroy K, Penault-Llorca F, Van Laethem JL, Demetter P, Tejpar S, Rossi S, Mosakhani N, Osterlund P, Ristam\u00e4ki R, Sarhadi V, Knuutila S, Boige V, Andr\u00e9 T, Laurent-Puig P. Hsa-miR-31-3p expression is linked to progression-free survival in patients with KRAS wild-type <\/a>metastatic<\/a> Colorectal cancer treated with anti-EGFR therapy<\/a><\/strong>. Clin Cancer Res. 2014 Jun 15;20(12):3338-47. doi: 10.1158\/1078-0432.CCR-13-2750.<\/p>\n<\/blockquote>\n<\/div>\n\n\n\n

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2013<\/h2>\n\n\n\n
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Boukhris A, Schule R, Loureiro JL, Louren\u00e7o CM, Mundwiller E, Gonzalez MA, Charles P, Gauthier J, Rekik I, Acosta Lebrigio RF, Gaussen M, Speziani F, Ferbert A, Feki I, Caballero-Oteyza A, Dionne-Laporte A, Amri M, Noreau A, Forlani S, Cruz VT, Mochel F, Coutinho P, Dion P, Mhiri C, Schols L, Pouget J, Darios F, Rouleau GA, Marques W Jr, Brice A, Durr A, Zuchner S, Stevanin G. Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.<\/a> <\/strong>Am J Hum Genet.<\/em> 2013 Jul 11;93(1):118-23. doi: 10.1016\/j.ajhg.2013.05.006.<\/p>\n<\/blockquote>\n\n\n\n

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Bonnet C, Louha M, Loundon N, Michalski N, Verpy E, Smagghe L, Hardelin JP, Rouillon I, Jonard L, Couderc R, Gherbi S, Garabedian EN, Denoyelle F, Petit C, Marlin S. Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment<\/a>.<\/strong> Gene<\/em>. 2013 Sep 25;527(2):537-40. doi: 10.1016\/j.gene.2013.06.044.<\/p>\n<\/blockquote>\n\n\n\n

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Jung AC, Job S, Ledrappier S, Macabre C, Abecassis J, de Reyni\u00e8s A, Wasylyk B. A poor prognosis subtype of HNSCC is consistently observed across methylome, transcriptome, and miRNome analysis<\/a>.<\/strong> Clin Cancer Res<\/em>. 2013 Aug 1;19(15):4174-84. doi: 10.1158\/1078-0432.CCR-12-3690.<\/p>\n<\/blockquote>\n\n\n\n

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Letouz\u00e9 E<\/strong>Martinelli C, Loriot C, Burnichon N, Abermil N, Ottolenghi C, Janin M, Menara M, Nguyen AT, Benit P, Buffet A, Marcaillou C<\/strong>Bertherat J, Amar L, Rustin P, De Reyni\u00e8s A, Gimenez-Roqueplo AP, Favier J. SDH mutations establish a hypermethylator phenotype in paraganglioma<\/a><\/strong>. Cancer Cell<\/em>. 2013 Jun 10;23(6):739-52. doi: 10.1016\/j.ccr.2013.04.018.<\/p>\n<\/blockquote>\n\n\n\n

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Ishida S, Picard F, Rudolf G, No\u00e9 E, Achaz G, Thomas P, Genton P, Mundwiller E, Wolff M, Marescaux C, Miles R, Baulac M, Hirsch E, Leguern E, Baulac S. Mutations of DEPDC5 cause autosomal dominant focal epilepsies.<\/a><\/strong> Nat Genet<\/em>. 2013 Mar 31. doi: 10.1038\/ng.2601.<\/p>\n<\/blockquote>\n\n\n\n

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Itzykson R, Kosmider O, Renneville A, Morabito M, Preudhomme C, Berthon C, Ad\u00e8s L, Fenaux P, Platzbecker U, Gagey O, Rameau P, Meurice G, Or\u00e9ar C, Delhommeau F, Bernard OA, Fontenay M, Vainchenker W, Droin N, Solary E. Clonal architecture of chronic myelomoncytic leukemias<\/a><\/strong>. Blood<\/em>. 2013 Mar 21;121(12):2186-98. doi: 10.1182\/blood-2012-06-440347. Epub 2013 Jan 14.<\/p>\n<\/blockquote>\n\n\n\n

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Pasquet M, Bellann\u00e9-Chantelot C, Tavitian S, Prade N, Beaupain B, Larochelle O, Petit A, Rohrlich P, Ferrand C, Van Den Neste E, Poirel HA, Lamy T, Ouach\u00e9e-Chardin M, Mansat-De Mas V, Corre J, R\u00e9cher C, Plat G, Bachelerie F, Donadieu J, Delabesse E. High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia<\/a>.<\/strong> Blood<\/em>. 2013 Jan 31;121(5):822-9. doi: 10.1182\/blood-2012-08-447367.<\/p>\n<\/blockquote>\n\n\n\n

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Schluth-Bolard C, Labalme A, Cordier MP, Till M, Nadeau G, Tevissen H, Lesca G, Boutry-Kryza N, Rossignol S, Rocas D, Dubruc E, Edery P, Sanlaville D. Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and\/or congenital malformations.<\/a><\/strong> J Med Genet<\/em>. 2013 Mar;50(3):144-50. doi: 10.1136\/jmedgenet-2012-101351.<\/p>\n<\/blockquote>\n\n\n\n

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Carmignac V, Thevenon J, Ad\u00e8s L, Callewaert B, Julia S, Thauvin-Robinet C, Gueneau L, Courcet JB, Lopez E, Holman K, Renard M, Plauchu H, Plessis G, De Backer J, Child A, Arno G, Duplomb L, Callier P, Aral B, Vabres P, Gigot N, Arbustini E, Grasso M, Robinson PN, Goizet C, Baumann C, Di Rocco M, Sanchez Del Pozo J, Huet F, Jondeau G, Collod-Beroud G, Beroud C, Amiel J, Cormier-Daire V, Rivi\u00e8re JB, Boileau C, De Paepe A, Faivre L. In-Frame Mutations in Exon 1 of SKI<\/em> Cause Dominant Shprintzen-Goldberg Syndrome<\/a><\/strong>, Am J Hum Genet.<\/em> 2012 Nov 2;91(5):950-7. doi: 10.1016\/j.ajhg.2012.10.002.<\/p>\n<\/blockquote>\n\n\n\n

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Nava C, Lamari F, H\u00e9ron D, Mignot C, Rastetter A, Keren B, Cohen D, Faudet A, Bouteiller D, Gilleron M, Jacquette A, Whalen S, Afenjar A, P\u00e9risse D, Laurent C, Dupuits C, Gautier C, G\u00e9rard M, Huguet G, Caillet S, Leheup B, Leboyer M, Gillberg C, Delorme R, Bourgeron T, Brice A, Depienne C. Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.<\/a><\/strong> Transl Psychiatry<\/em>. 2012 Oct 23;2:e179. doi: 10.1038\/tp.2012.102.<\/p>\n<\/blockquote>\n\n\n\n

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Isidor B, Lindenbaum P, Pichon O, B\u00e9zieau S, Dina C, Jacquemont S, Martin-Coignard D, Thauvin-Robinet C, Le Merrer M, Mandel JL, David A, Faivre L, Cormier-Daire V, Redon R, Le Caignec C. Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis<\/a><\/strong>. Nat Genet<\/em>. 2011 Mar 6;43(4):306-8. doi: 10.1038\/ng.778.<\/p>\n<\/blockquote>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"

PUBLICATIONS SCIENTIFIQUES 2026 Cordier P, Hirsch TZ, Caruso S, Pan L, Galy-Fauroux I, Klein C, De La Cruz-Ojeda P, Maille P, Poupel L, Imbeaud S, Zucman-Rossi J, Calderaro J, Desdouets C. Intratumour ploidy heterogeneity and clonal evolution in hepatocellular carcinoma. J Hepatol. 2026 Apr;84(4):776-792. doi: 10.1016\/j.jhep.2025.11.015. Gaillard L, Sportes-Milot L, Debizet K, T\u00eate A, Saubamea…<\/p>","protected":false},"author":1,"featured_media":0,"parent":2076,"menu_order":2,"comment_status":"closed","ping_status":"closed","template":"fullwidth-page-template","meta":{"ca_portfolio_gallery_project_year":"","ca_portfolio_gallery_client":"","ca_portfolio_gallery_skills":"","ca_portfolio_gallery_url":"","ca_portfolio_gallery_images":"","_eb_attr":"","footnotes":""},"class_list":["post-399","page","type-page","status-publish","hentry"],"yoast_head":"\nPublications Scientifiques – IntegraGen<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/integragen.com\/en\/communication\/publications-scientifiques\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Publications Scientifiques – IntegraGen\" \/>\n<meta property=\"og:description\" content=\"PUBLICATIONS SCIENTIFIQUES 2026 Cordier P, Hirsch TZ, Caruso S, Pan L, Galy-Fauroux I, Klein C, De La Cruz-Ojeda P, Maille P, Poupel L, Imbeaud S, Zucman-Rossi J, Calderaro J, Desdouets C. 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