IntegraGen est impliqué dans de nombreux projets de recherche, dont certains ont été publiés dans de grandes revues scientifiques. Ci-dessous une liste non-exhaustive de ces publications.

en gras = Auteurs d’ IntegraGen

2021

  • 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, Héron 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, Mégarbané A, Mercier S, Nizon M, Rigonnot L, Prieur F, Quélin 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. J Med Genet 2021;0:1–9. doi:10.1136/jmedgenet-2020-107595

2020

2019

  • Rospo G Lorenzato A, Amirouchene-Angelozzi N, Magrì 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.Genome Med. 2019 Jun 28;11(1):42. doi: 10.1186/s13073-019-0654-6.

  • Zeitz C, Michiels C, Neuillé 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, Blanché 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. Hum Mutat. 2019 Mar 2. doi: 10.1002/humu.23735

2018

  • 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 Reyniès A, Dusetti N, Iovanna J, Urrutia R. Distinct epigenetic landscapes underlie the pathobiology of pancreatic cancer subtypes. Nat Commun. 2018 May 17;9(1):1978. doi: 10.1038/s41467-018-04383-6.

  • 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, Valtorta 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. Cancer Cell. 2018; 34:148-162.e7. doi: 10.1016/j.ccell.2018.06.004.

2017

  • Germano G, Lamba S, Rospo G, Barault L, Magrì 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. Nature. 2017; 552:116-20. doi: 10.1038/nature24673. Epub 2017 Nov 29.

  • 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 Reyniès A, Dusetti N, Iovanna J. Pancreatic adenocarcinoma therapeutic targets revealed by tumor-stroma cross-talk analyses in patient-derived xenografts. Cell Rep. 2017 Nov 28;21(9):2458-2470. doi: 10.1016/j.celrep.2017.11.003.

2016

2015

  • 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, Neurology Genetics. 2015; 1:e35; doi: 10.1212/NXG.0000000000000035

  • 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, Poirée M, Sirvent N, Méchinaud F, Adjaoud D, Paillard C, Nelken B, Reguerre Y, Bertrand Y, Häussinger D, Dalle JH, Ahmadian MR, Baruchel A, Chomienne C, Cavé H. Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network. Nat Genet. 2015 Oct 12. doi: 10.1038/ng.3420.

  • 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, Hemmerlé J, Weickert JL, Dabovic BB, Rifkin DB, Dheedene A, Boudin E, Caluseriu O, Cholette MC, Mcleod R, Antequera R, Gellé MP, Coeuriot JL, Jacquelin LF, Bailleul-Forestier I, Manière MC, Van Hul W, Bertola D, Dollé 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. Hum Mol Genet. 2015 Jun 1; 24(11): 3038–3049. doi: 10.1093/hmg/ddv053.

  • 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, Letexier M, 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. J Clin Invest. 2015 Mar 2;125(3):1124-8. doi: 10.1172/JCI77262.

2014

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

2013

  • Boukhris A, Schule R, Loureiro JL, Lourenço 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. Am J Hum Genet. 2013 Jul 11;93(1):118-23. doi: 10.1016/j.ajhg.2013.05.006.

  • Letouzé E, Martinelli C, Loriot C, Burnichon N, Abermil N, Ottolenghi C, Janin M, Menara M, Nguyen AT, Benit P, Buffet A, Marcaillou C, Bertherat J, Amar L, Rustin P, De Reyniès A, Gimenez-Roqueplo AP, Favier J. SDH mutations establish a hypermethylator phenotype in paragangliomaCancer Cell. 2013 Jun 10;23(6):739-52. doi: 10.1016/j.ccr.2013.04.018.

  • Itzykson R, Kosmider O, Renneville A, Morabito M, Preudhomme C, Berthon C, Adès L, Fenaux P, Platzbecker U, Gagey O, Rameau P, Meurice G, Oréar C, Delhommeau F, Bernard OA, Fontenay M, Vainchenker W, Droin N, Solary E. Clonal architecture of chronic myelomoncytic leukemias. Blood. 2013 Mar 21;121(12):2186-98. doi: 10.1182/blood-2012-06-440347. Epub 2013 Jan 14.

2012

  • Carmignac V, Thevenon J, Adès 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, Rivière JB, Boileau C, De Paepe A, Faivre L. In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome. Am J Hum Genet. 2012 Nov 2;91(5):950-7. doi: 10.1016/j.ajhg.2012.10.002.

  • Depienne C, Bouteiller D, Méneret A, Billot S, Groppa S, Klebe S, Charbonnier-Beaupel F, Corvol JC, Saraiva JP, Brueggemann N, Bhatia K, Cincotta M, Brochard V, Flamand-Roze C, Carpentier W, Meunier S, Marie Y, Gaussen M, Stevanin G, Wehrle R, Vidailhet M, Klein C, Dusart I, Brice A, Roze E. RAD51 haploinsufficiency causes congenital mirror movements in humansAm J Hum Genet. 2012 Feb 10;90(2):301-7. doi: 10.1016/j.ajhg.2011.12.002.

  • Audo I, Bujakowska K, Orhan E, Poloschek CM, Defoort-Dhellemmes S, Drumare I, Kohl S, Luu TD, Lecompte O, Zrenner E, Lancelot ME, Antonio A, Germain A, Michiels C, Audier C, Letexier MSaraiva JP, Leroy BP, Munier FL, Mohand-Saïd S, Lorenz B, Friedburg C, Preising M, Kellner U, Renner AB, Moskova-Doumanova V, Berger W, Wissinger B, Hamel CP, Schorderet DF, De Baere E, Sharon D, Banin E, Jacobson SG, Bonneau D, Zanlonghi X, Le Meur G, Casteels I, Koenekoop R, Long VW, Meire F, Prescott K, de Ravel T, Simmons I, Nguyen H, Dollfus H, Poch O, Léveillard T, Nguyen-Ba-Charvet K, Sahel JA, Bhattacharya SS, Zeitz C. Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet. 2012 Feb 10;90(2):321-30. doi: 10.1016/j.ajhg.2011.12.007. Erratum in: Am J Hum Genet. 2012 Jul 13;91(1):209.

  • Bujakowska K, Audo I, Mohand-Saïd S, Lancelot ME, Antonio A, Germain A, Léveillard T, Letexier MSaraiva JP, Lonjou C, Carpentier W, Sahel JA, Bhattacharya SS, Zeitz C. CRB1 mutations in inherited retinal dystrophies. Hum Mutat. 2012 Feb;33(2):306-15. doi: 10.1002/humu.21653.

2011