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Publications 2015

  1. Augière C, Mégy S, El Malti R, Boland A, El Zein L, Verrier B, Mégarbané A, Deleuze JF, Bouvagnet P,
    A Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact with Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Midline Defects.
    PLoS One, 2015, 10 (6): p. e0127903. 
  2. Azzi S, Steunou V, Tost J, Rossignol S, Thibaud N, Das Neves C, Le Jule M, Abi Habib W, Blaise A, Koudou Y, Busato F, Le Bouc Y, Netchine I,
    Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2/ICR1/H19 11p15 loci in Russell Silver syndrome.
    J Med Genet, 2015, 52 (1): p. 53-60. 
  3. Bakey Z, Bihoreau MT, Piedagnel R, Delestré L, Arnould C, de Villiers AD, Devuyst O, Hoffmann S, Ronco P, Gauguier D, Lelongt B,
    The SAM domain of ANKS6 has different interacting partners and mutations can induce different cystic phenotypes.
    Kidney Int, 2015, 88 (2): p. 299-310. 
  4. Borghese B, Tost J, de Surville M, Busato F, Letourneur F, Mondon F, Vaiman D, Chapron C,
    Identification of susceptibility genes for peritoneal, ovarian, and deep infiltrating endometriosis using a pooled sample-based genome-wide association study.
    Biomed Res Int, 2015, 2015p. 461024. 
  5. Busato F, Tost J,
    SNP-Based Quantification of Allele-Specific DNA Methylation Patterns by Pyrosequencing(®).
    Methods Mol Biol, 2015, 1315p. 291-313. 
  6. Charbel C, Fontaine RH, Kadlub N, Coulomb-L'Hermine A, Rouillé T, How-Kit A, Moguelet P, Tost J, Picard A, Aractingi S, Guégan S,
    Clonogenic cell subpopulations maintain congenital melanocytic nevi.
    J Invest Dermatol, 2015, 135 (3): p. 824-833. 
  7. Cobat A, Poirier C, Hoal E, Boland-Auge A, de La Rocque F, Corrard F, Grange G, Migaud M, Bustamante J, Boisson-Dupuis S, Casanova JL, Schurr E, Alcaïs A, Delacourt C, Abel L,
    Tuberculin skin test negativity is under tight genetic control of chromosomal region 11p14-15 in settings with different tuberculosis endemicities.
    J Infect Dis, 2015, 211 (2): p. 317-321. 
  8. Coutelier M, Burglen L, Mundwiller E, Abada-Bendib M, Rodriguez D, Chantot-Bastaraud S, Rougeot C, Cournelle MA, Milh M, Toutain A, Bacq D, Meyer V, Afenjar A, Deleuze JF, Brice A, Héron D, Stevanin G, Durr A,
    GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia.
    Neurology, 2015, 84 (17): p. 1751-1759. 
  9. Debette S, Kamatani Y, Metso TM, Kloss M, Chauhan G, Engelter ST, Pezzini A, Thijs V, Markus HS, Dichgans M, Wolf C, Dittrich R, Touzé E, Southerland AM, Samson Y, Abboud S, Béjot Y, Caso V, Bersano A, Gschwendtner A, Sessa M, Cole J, Lamy C, Medeiros E, Beretta S, Bonati LH, Grau AJ, Michel P, Majersik JJ, Sharma P, Kalashnikova L, Nazarova M, Dobrynina L, Bartels E, Guillon B, van den Herik EG, Fernandez-Cadenas I, Jood K, Nalls MA, De Leeuw FE, Jern C, Cheng YC, Werner I, Metso AJ, Lichy C, Lyrer PA, Brandt T, Boncoraglio GB, Wichmann HE, Gieger C, Johnson AD, Böttcher T, Castellano M, Arveiler D, Ikram MA, Breteler MM, Padovani A, Meschia JF, Kuhlenbäumer G, Rolfs A, Worrall BB, International Stroke Genetics Consortium , Ringelstein EB, Zelenika D, Tatlisumak T, Lathrop M, Leys D, CADISP group , Amouyel P, Dallongeville J, CADISP group ,
    Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection.
    Nat Genet, 2015, 47 (1): p. 78-83. 
  10. Germain M, Chasman DI, de Haan H, Tang W, Lindström S, Weng LC, de Andrade M, de Visser MC, Wiggins KL, Suchon P, Saut N, Smadja DM, Le Gal G, van Hylckama Vlieg A, Di Narzo A, Hao K, Nelson CP, Rocanin-Arjo A, Folkersen L, Monajemi R, Rose LM, Brody JA, Slagboom E, Aïssi D, Gagnon F, Deleuze JF, Deloukas P, Tzourio C, Dartigues JF, Berr C, Taylor KD, Civelek M, Eriksson P, Cardiogenics Consortium , Psaty BM, Houwing-Duitermaat J, Goodall AH, Cambien F, Kraft P, Amouyel P, Samani NJ, Basu S, Ridker PM, Rosendaal FR, Kabrhel C, Folsom AR, Heit J, Reitsma PH, Trégouët DA, Smith NL, Morange PE,
    Meta-analysis of 65,734 Individuals Identifies TSPAN15 and SLC44A2 as Two Susceptibility Loci for Venous Thromboembolism.
    Am J Hum Genet, 2015, 96 (4): p. 532-542. 
  11. How-Kit A, Daunay A, Mazaleyrat N, Busato F, Daviaud C, Teyssier E, Deleuze JF, Gallusci P, Tost J,
    Accurate CpG and non-CpG cytosine methylation analysis by high-throughput locus-specific pyrosequencing in plants.
    Plant Mol Biol, 2015, 88 (4-5): p. 471-485. 
  12. How-Kit A, Tost J,
    Pyrosequencing(®)-Based Identification of Low-Frequency Mutations Enriched Through Enhanced-ice-COLD-PCR.
    Methods Mol Biol, 2015, 1315p. 83-101. 
  13. Jun G, Ibrahim-Verbaas CA, Vronskaya M, Lambert JC, Chung J, Naj AC, Kunkle BW, Wang LS, Bis JC, Bellenguez C, Harold D, Lunetta KL, Destefano AL, Grenier-Boley B, Sims R, Beecham GW, Smith AV, Chouraki V, Hamilton-Nelson KL, Ikram MA, Fievet N, Denning N, Martin ER, Schmidt H, Kamatani Y, Dunstan ML, Valladares O, Laza AR, Zelenika D, Ramirez A, Foroud TM, Choi SH, Boland A, Becker T, Kukull WA, van der Lee SJ, Pasquier F, Cruchaga C, Beekly D, Fitzpatrick AL, Hanon O, Gill M, Barber R, Gudnason V, Campion D, Love S, Bennett DA, Amin N, Berr C, Tsolaki M, Buxbaum JD, Lopez OL, Deramecourt V, Fox NC, Cantwell LB, Tárraga L, Dufouil C, Hardy J, Crane PK, Eiriksdottir G, Hannequin D, Clarke R, Evans D, Mosley TH Jr, Letenneur L, Brayne C, Maier W, De Jager P, Emilsson V, Dartigues JF, Hampel H, Kamboh MI, de Bruijn RF, Tzourio C, Pastor P, Larson EB, Rotter JI, O'Donovan MC, Montine TJ, Nalls MA, Mead S, Reiman EM, Jonsson PV, Holmes C, St George-Hyslop PH, Boada M, Passmore P, Wendland JR, Schmidt R, Morgan K, Winslow AR, Powell JF, Carasquillo M, Younkin SG, Jakobsdóttir J, Kauwe JS, Wilhelmsen KC, Rujescu D, Nöthen MM, Hofman A, Jones L, IGAP Consortium , Haines JL, Psaty BM, Van Broeckhoven C, Holmans P, Launer LJ, Mayeux R, Lathrop M, Goate AM, Escott-Price V, Seshadri S, Pericak-Vance MA, Amouyel P, Williams J, van Duijn CM, Schellenberg GD, Farrer LA,
    A novel Alzheimer disease locus located near the gene encoding tau protein.
    Mol Psychiatry, 2015. 
  14. Lepoittevin C, Bodénès C, Chancerel E, Villate L, Lang T, Lesur I, Boury C, Ehrenmann F, Zelenica D, Boland A, Besse C, Garnier-Géré P, Plomion C, Kremer A,
    Single-nucleotide polymorphism discovery and validation in high-density SNP array for genetic analysis in European white oaks.
    Mol Ecol Resour, 2015. 
  15. Levy O, Mortensen LJ, Boquet G, Tong Z, Perrault C, Benhamou B, Zhang J, Stratton T, Han E, Safaee H, Musabeyezu J, Yang Z, Multon MC, Rothblatt J, Deleuze JF, Lin CP, Karp JM,
    A small-molecule screen for enhanced homing of systemically infused cells.
    Cell Rep, 2015, 10 (8): p. 1261-1268. 
  16. Llewellyn MS, Messenger LA, Luquetti AO, Garcia L, Torrico F, Tavares SB, Cheaib B, Derome N, Delepine M, Baulard C, Deleuze JF, Sauer S, Miles MA,
    Deep Sequencing of the Trypanosoma cruzi GP63 Surface Proteases Reveals Diversity and Diversifying Selection among Chronic and Congenital Chagas Disease Patients.
    PLoS Negl Trop Dis, 2015, 9 (4): p. e0003458. 
  17. Lohmann E, Coquel AS, Honoré A, Gurvit H, Hanagasi H, Emre M, Leutenegger AL, Drouet V, Sahbatou M, Guven G, Erginel-Unaltuna N, Deleuze JF, Lesage S, Brice A,
    A new F-box protein 7 gene mutation causing typical Parkinson's disease.
    Mov Disord, 2015, 30 (8): p. 1130-1133. 
  18. Mauger F, Dulary C, Daviaud C, Deleuze JF, Tost J,
    Comprehensive evaluation of methods to isolate, quantify, and characterize circulating cell-free DNA from small volumes of plasma.
    Anal Bioanal Chem, 2015. 
  19. Miceli-Richard C, Wang-Renault SF, Boudaoud S, Busato F, Lallemand C, Bethune K, Belkhir R, Nocturne G, Mariette X, Tost J,
    Overlap between differentially methylated DNA regions in blood B lymphocytes and genetic at-risk loci in primary Sjögren's syndrome.
    Ann Rheum Dis, 2015. 
  20. Moison C, Assemat F, Daunay A, Arimondo PB, Tost J,
    DNA Methylation Analysis of ChIP Products at Single Nucleotide Resolution by Pyrosequencing(®).
    Methods Mol Biol, 2015, 1315p. 315-333. 
  21. Nicolas G, Wallon D, Charbonnier C, Quenez O, Rousseau S, Richard AC, Rovelet-Lecrux A, Coutant S, Le Guennec K, Bacq D, Garnier JG, Olaso R, Boland A, Meyer V, Deleuze JF, Munter HM, Bourque G, Auld D, Montpetit A, Lathrop M, Guyant-Maréchal L, Martinaud O, Pariente J, Rollin-Sillaire A, Pasquier F, Le Ber I, Sarazin M, Croisile B, Boutoleau-Bretonnière C, Thomas-Antérion C, Paquet C, Sauvée M, Moreaud O, Gabelle A, Sellal F, Ceccaldi M, Chamard L, Blanc F, Frebourg T, Campion D, Hannequin D,
    Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons.
    Eur J Hum Genet, 2015. 
  22. Poirier K, Martinovic J, Laquerrière A, Cavallin M, Fallet-Bianco C, Desguerre I, Valence S, Grande-Goburghun J, Francannet C, Deleuze JF, Boland A, Chelly J, Bahi-Buisson N,
    Rare ACTG1 variants in fetal microlissencephaly.
    Eur J Med Genet, 2015, 58 (8): p. 416-418. 
  23. Rovelet-Lecrux A, Charbonnier C, Wallon D, Nicolas G, Seaman MN, Pottier C, Breusegem SY, Mathur PP, Jenardhanan P, Le Guennec K, Mukadam AS, Quenez O, Coutant S, Rousseau S, Richard AC, Boland A, Deleuze JF, Frebourg T, Hannequin D, Campion D,
    De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease.
    Mol Psychiatry, 2015. 
  24. Vispé S, Deroide A, Davoine E, Desjobert C, Lestienne F, Fournier L, Novosad N, Bréand S, Besse J, Busato F, Tost J, De Vries L, Cussac D, Riond J, Arimondo PB,
    Consequences of combining siRNA-mediated DNA methyltransferase 1 depletion with 5-aza-2'-deoxycytidine in human leukemic KG1 cells.
    Oncotarget, 2015, 6 (17): p. 15265-15282. 
  25. Wessel J, Chu AY, Willems SM, Wang S, Yaghootkar H, Brody JA, Dauriz M, Hivert MF, Raghavan S, Lipovich L, Hidalgo B, Fox K, Huffman JE, An P, Lu Y, Rasmussen-Torvik LJ, Grarup N, Ehm MG, Li L, Baldridge AS, Stančáková A, Abrol R, Besse C, Boland A, Bork-Jensen J, Fornage M, Freitag DF, Garcia ME, Guo X, Hara K, Isaacs A, Jakobsdottir J, Lange LA, Layton JC, Li M, Hua Zhao J, Meidtner K, Morrison AC, Nalls MA, Peters MJ, Sabater-Lleal M, Schurmann C, Silveira A, Smith AV, Southam L, Stoiber MH, Strawbridge RJ, Taylor KD, Varga TV, Allin KH, Amin N, Aponte JL, Aung T, Barbieri C, Bihlmeyer NA, Boehnke M, Bombieri C, Bowden DW, Burns SM, Chen Y, Chen YD, Cheng CY, Correa A, Czajkowski J, Dehghan A, Ehret GB, Eiriksdottir G, Escher SA, Farmaki AE, Frånberg M, Gambaro G, Giulianini F, Goddard WA, Goel A, Gottesman O, Grove ML, Gustafsson S, Hai Y, Hallmans G, Heo J, Hoffmann P, Ikram MK, Jensen RA, Jørgensen ME, Jørgensen T, Karaleftheri M, Khor CC, Kirkpatrick A, Kraja AT, Kuusisto J, Lange EM, Lee IT, Lee WJ, Leong A, Liao J, Liu C, Liu Y, Lindgren CM, Linneberg A, Malerba G, Mamakou V, Marouli E, Maruthur NM, Matchan A, McKean-Cowdin R, McLeod O, Metcalf GA, Mohlke KL, Muzny DM, Ntalla I, Palmer ND, Pasko D, Peter A, Rayner NW, Renström F, Rice K, Sala CF, Sennblad B, Serafetinidis I, Smith JA, Soranzo N, Speliotes EK, Stahl EA, Stirrups K, Tentolouris N, Thanopoulou A, Torres M, Traglia M, Tsafantakis E, Javad S, Yanek LR, Zengini E, Becker DM, Bis JC, Brown JB, Adrienne Cupples L, Hansen T, Ingelsson E, Karter AJ, Lorenzo C, Mathias RA, Norris JM, Peloso GM, Sheu WH, Toniolo D, Vaidya D, Varma R, Wagenknecht LE, Boeing H, Bottinger EP, Dedoussis G, Deloukas P, Ferrannini E, Franco OH, Franks PW, Gibbs RA, Gudnason V, Hamsten A, Harris TB, Hattersley AT, Hayward C, Hofman A, Jansson JH, Langenberg C, Launer LJ, Levy D, Oostra BA, O'Donnell CJ, O'Rahilly S, Padmanabhan S, Pankow JS, Polasek O, Province MA, Rich SS, Ridker PM, Rudan I, Schulze MB, Smith BH, Uitterlinden AG, Walker M, Watkins H, Wong TY, Zeggini E, Laakso M, Borecki IB, Chasman DI, Pedersen O, Psaty BM, Shyong Tai E, van Duijn CM, Wareham NJ, Waterworth DM, Boerwinkle E, Linda Kao WH, Florez JC, Loos RJ, Wilson JG, Frayling TM, Siscovick DS, Dupuis J, Rotter JI, Meigs JB, Scott RA, Goodarzi MO, EPIC-InterAct Consortium ,
    Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility.
    Nat Commun, 2015, 6p. 5897.