| Reactive astrocytes promote proteostasis in Huntington's disease through the JAK2-STAT3 pathway | Abjean L, Ben Haim L, Riquelme-Perez M, Gipchtein P, Derbois C, Palomares MA, Petit F, Herard AS, Gaillard MC, Guillermier M, Gaudin-Guerif M, Auregan G, Sagar N, Hery C, Dufour N, Robil N, Kabani M, Melki R, De la Grange P, Bemelmans AP, Bonvento G, Deleuze JF, Hantraye P, Flament J, Bonnet E, Brohard S, Olaso R, Brouillet E, Carrillo-de Sauvage MA and Escartin C | | | Date de publication:
|  | | Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases | Damian A, Nunez-Moreno G, Jubin C, Tamayo A, de Alba MR, Villaverde C, Fund C, Delepine M, Leduc A, Deleuze JF, Minguez P, Ayuso C and Corton M | | | Date de publication:
| | | Single cell transcriptome sequencing of stimulated and frozen human peripheral blood mononuclear cells | Derbois C, Palomares MA, Deleuze JF, Cabannes E and Bonnet E | | | Date de publication:
| | | Relationship between genetic polymorphisms of cytokines and self-reported sleep complaints and habitual caffeine consumption | Drogou C, Erblang M, Metlaine A, Berot S, Derbois C, Olaso R, Boland A, Deleuze JF, Thomas C, Leger D, Chennaoui M, Sauvet F and Gomez-Merino D | | | Date de publication:
| | | Gene expression profiling of peripheral blood mononuclear cells from women with cervical lesions reveals new markers of cancer | Ndiaye M, Diop G, Derbois C, Spadoni JL, Noirel J, Medina-Santos R, Coulonges C, Torres M, Dieye A, Sembene M, Deleuze JF, Toledano A, Dem A, Zagury JF and Le Clerc S | | | Date de publication:
| | | Characterisation of gut microbiota composition in patients with axial spondyloarthritis and its modulation by TNF inhibitor treatment | Vallier M, Segurens B, Larsonneur E, Meyer V, Ferreira S, Caloustian C, Deleuze JF, Dougados M, Chamaillard M and Miceli-Richard C | | | Date de publication:
| | | Polygenic risk of Major Depressive Disorder as a risk factor for Venous Thromboembolism | Ward J, Le NQ, Suryakant S, Brody JA, Amouyel P, Boland A, Brown R, Cullen B, Debette S, Deleuze JF, Emmerich J, Graham N, Germain M, Anderson JJ, Pell JP, Lyall DM, Lyall LM, Smith DJ, Wiggins KL, Soria JM, Souto JC, Morange PE, Smith NL, Tregouet D, Sabater-Lleal M and Strawbridge RJ | | | Date de publication:
| | | Relationship between genetic polymorphisms of cytokines and self-reported sleep complaints and habitual caffeine consumption | Drogou C, Erblang M, Metlaine A, Berot S, Derbois C, Olaso R, Boland A, Deleuze JF, Thomas C, Leger D, Chennaoui M, Sauvet F and Gomez-Merino D | | | Date de publication:
| | | G6PD and HBB polymorphisms in the Senegalese population: prevalence, correlation with clinical malaria | Thiam F, Diop G, Coulonges C, Derbois C, Mbengue B, Thiam A, Nguer CM, Zagury JF, Deleuze JF and Dieye A | | | Date de publication:
| | | Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities | Carmignac V, Mignot C, Blanchard E, Kuentz P, Aubriot-Lorton MH, Parker VER, Sorlin A, Fraitag S, Courcet JB, Duffourd Y, Rodriguez D, Knox RG, Polubothu S, Boland A, Olaso R, Delepine M, Darmency V, Riachi M, Quelin C, Rollier P, Goujon L, Grotto S, Capri Y, Jacquemont ML, Odent S, Amram D, Chevarin M, Vincent-Delorme C, Catteau B, Guibaud L, Arzimanoglou A, Keddar M, Sarret C, Callier P, Bessis D, Genevieve D, Deleuze JF, Thauvin C, Semple RK, Philippe C, Riviere JB, Kinsler VA, Faivre L and Vabres P | | | Date de publication:
| | | Feasibility of high-throughput sequencing in clinical routine cancer care: lessons from the cancer pilot project of the France Genomic Medicine 2025 plan | Auzanneau C, Bacq D, Bellera C, Blons H, Boland A, Boucheix M, Bourdon A, Chollet E, Chomienne C, Deleuze JF, Delmas C, Dinart D, Esperou H, Geillon F, Geneste D, Italiano A, Jean D, Khalifa E, Laizet Y, Laurent-Puig P, Lethimonnier F, Levy-Marchal C, Lucchesi C, Malle C, Mancini P, Mathoulin-Pelissier S, Meyer V, Palomares M-A, Perkins G, Sellan-Albert S, Soubeyran I and Wallet C | | | Date de publication:
28/07/2020 | | | Glucocorticoids delay RAF-induced senescence promoted by EGR1 | Carvalho C, L'Hote V, Courbeyrette R, Kratassiouk G, Pinna G, Cintrat JC, Denby-Wilkes C, Derbois C, Olaso R, Deleuze JF, Mann C and Thuret JY | | | Date de publication:
03/08/2019 | | | Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing | Girard E, Eon-Marchais S, Olaso R, Renault AL, Damiola F, Dondon MG, Barjhoux L, Goidin D, Meyer V, Le Gal D, Beauvallet J, Mebirouk N, Lonjou C, Coignard J, Marcou M, Cavaciuti E, Baulard C, Bihoreau MT, Cohen-Haguenauer O, Leroux D, Penet C, Fert-Ferrer S, Colas C, Frebourg T, Eisinger F, Adenis C, Fajac A, Gladieff L, Tinat J, Floquet A, Chiesa J, Giraud S, Mortemousque I, Soubrier F, Audebert-Bellanger S, Limacher JM, Lasset C, Lejeune-Dumoulin S, Dreyfus H, Bignon YJ, Longy M, Pujol P, Venat-Bouvet L, Bonadona V, Berthet P, Luporsi E, Maugard CM, Nogues C, Delnatte C, Fricker JP, Gesta P, Faivre L, Lortholary A, Buecher B, Caron O, Gauthier-Villars M, Coupier I, Servant N, Boland A, Mazoyer S, Deleuze JF, Stoppa-Lyonnet D, Andrieu N and Lesueur F | | | Date de publication:
12/10/2018 | | | Minor allele of the factor V K858R variant protects from venous thrombosis only in non-carriers of factor V Leiden mutation | Ibrahim-Kosta M, Suchon P, Couturaud F, Smadja D, Olaso R, Germain M, Saut N, Goumidi L, Derbois C, Thibord F, Debette S, Amouyel P, Deleuze JF, van Doorn P, Castoldi E, Patin E, Alessi MC, Tregouet DA and Morange PE | | | Date de publication:
| | | Systematic analysis of TruSeq, SMARTer and SMARTer Ultra-Low RNA-seq kits for standard, low and ultra-low quantity samples | Palomares MA, Dalmasso C, Bonnet E, Derbois C, Brohard-Julien S, Christopheambroise, Battail C, Deleuze JF and Olaso R | | | Date de publication:
| | | A novel nonsense variant in SUPT20H gene associated with Rheumatoid Arthritis identified by Whole Exome Sequencing of multiplex families | Veyssiere M, Perea J, Michou L, Boland A, Caloustian C, Olaso R, Deleuze JF, Cornelis F, Petit-Teixeira E and Chaudru V | | | Date de publication:
08/03/2019 | | | Genetic polymorphisms of Th2 interleukins, history of asthma or eczema and childhood acute lymphoid leukaemia: Findings from the ESCALE study (SFCE) | Bonaventure A, Orsi L, Rudant J, Goujon-Bellec S, Leverger G, Baruchel A, Bertrand Y, Nelken B, Pasquet M, Michel G, Sirvent N, Chastagner P, Ducassou S, Thomas C, Besse C, Hemon D and Clavel J | | | Date de publication:
| | | Performance comparison of three DNA extraction kits on human whole-exome data from formalin-fixed paraffin-embedded normal and tumor samples | Bonnet E, Moutet ML, Baulard C, Bacq-Daian D, Sandron F, Mesrob L, Fin B, Delepine M, Palomares MA, Jubin C, Blanche H, Meyer V, Boland A, Olaso R and Deleuze JF | | | Date de publication:
06/04/2018 | | | Modulation of astrocyte reactivity improves functional deficits in mouse models of Alzheimer's disease | Ceyzeriat K, Ben Haim L, Denizot A, Pommier D, Matos M, Guillemaud O, Palomares MA, Abjean L, Petit F, Gipchtein P, Gaillard MC, Guillermier M, Bernier S, Gaudin M, Auregan G, Josephine C, Dechamps N, Veran J, Langlais V, Cambon K, Bemelmans AP, Baijer J, Bonvento G, Dhenain M, Deleuze JF, Oliet SHR, Brouillet E, Hantraye P, Carrillo-de Sauvage MA, Olaso R, Panatier A and Escartin C | | | Date de publication:
| | | Genetic variants of RNASE3 (ECP) and susceptibility to severe malaria in Senegalese population | Diop G, Derbois C, Loucoubar C, Mbengue B, Ndao BN, Thiam F, Thiam A, Ndiaye R, Dieye Y, Olaso R, Deleuze JF and Dieye A | | | Date de publication:
| | | Publisher Correction: Identification and characterization of two functional variants in the human longevity gene FOXO3 | 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, Hasler R, Pallauf K, Lieb W, Derbois C, Galan P, Drichel D, Arlt A, Till A, Krause-Kyora B, Rimbach G, Blanche H, Deleuze JF, Christiansen L, Christensen K, Nothnagel M, Rosenstiel P, Schreiber S, Franke A, Sebens S and Nebel A | | | Date de publication:
18/01/2018 | | | Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis | Mary L, Piton A, Schaefer E, Mattioli F, Nourisson E, Feger C, Redin C, Barth M, El Chehadeh S, Colin E, Coubes C, Faivre L, Flori E, Genevieve D, Capri Y, Perrin L, Fabre-Teste J, Timbolschi D, Verloes A, Olaso R, Boland A, Deleuze JF, Mandel JL, Gerard B and Giurgea I | | | Date de publication:
| | | Computational Systems Biology Approach for the Study of Rheumatoid Arthritis: From a Molecular Map to a Dynamical Model | Singh V, Ostaszewski M, Kalliolias GD, Chiocchia G, Olaso R, Petit-Teixeira E, Helikar T and Niarakis A | | | Date de publication:
29/06/2018 | | | Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls | Bellenguez C, Charbonnier C, Grenier-Boley B, Quenez O, Le Guennec K, Nicolas G, Chauhan G, Wallon D, Rousseau S, Richard AC, Boland A, Bourque G, Munter HM, Olaso R, Meyer V, Rollin-Sillaire A, Pasquier F, Letenneur L, Redon R, Dartigues JF, Tzourio C, Frebourg T, Lathrop M, Deleuze JF, Hannequin D, Genin E, Amouyel P, Debette S, Lambert JC, Campion D and Collaborators CM | | | Date de publication:
| | | Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype | Bruel AL, Bigoni S, Kennedy J, Whiteford M, Buxton C, Parmeggiani G, Wherlock M, Woodward G, Greenslade M, Williams M, St-Onge J, Ferlini A, Garani G, Ballardini E, van Bon BW, Acuna-Hidalgo R, Bohring A, Deleuze JF, Boland A, Meyer V, Olaso R, Ginglinger E, Riviere JB, Brunner HG, Hoischen A, Newbury-Ecob R, Faivre L, Thauvin-Robinet C, Thevenon J and Study DDD | | | Date de publication:
| | | Histone variant H2A.J accumulates in senescent cells and promotes inflammatory gene expression | Contrepois K, Coudereau C, Benayoun BA, Schuler N, Roux PF, Bischof O, Courbeyrette R, Carvalho C, Thuret JY, Ma ZH, Derbois C, Nevers MC, Volland H, Redon CE, Bonner WM, Deleuze JF, Wiel C, Bernard D, Snyder MP, Rube CE, Olaso R, Fenaille F and Mann C | | | Date de publication:
| | | Identification and characterization of two functional variants in the human longevity gene FOXO3 | 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, Haesler R, Pallauf K, Lieb W, Derbois C, Galan P, Drichel D, Arlt A, Till A, Krause-Kyora B, Rimbach G, Blanche H, Deleuze JF, Christiansen L, Christensen K, Nothnagel M, Rosenstiel P, Schreiber S, Franke A, Sebens S and Nebel A | | | Date de publication:
14/12/2017 | | | Early born neurons are abnormally positioned in the doublecortin knockout hippocampus | Khalaf-Nazzal R, Stouffer MA, Olaso R, Muresan L, Roumegous A, Lavilla V, Carpentier W, Moutkine I, Dumont S, Albaud B, Cagnard N, Crollius HR and Francis F | | | Date de publication:
| | | 17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression | Le Guennec K, Quenez O, Nicolas G, Wallon D, Rousseau S, Richard AC, Alexander J, Paschou P, Charbonnier C, Bellenguez C, Grenier-Boley B, Lechner D, Bihoreau MT, Olaso R, Boland A, Meyer V, Deleuze JF, Amouyel P, Munter HM, Bourque G, Lathrop M, Frebourg T, Redon R, Letenneur L, Dartigues JF, Martinaud O, Kalev O, Mehrabian S, Traykov L, Strobel T, Le Ber I, Caroppo P, Epelbaum S, Jonveaux T, Pasquier F, Rollin-Sillaire A, Genin E, Guyant-Marechal L, Kovacs GG, Lambert JC, Hannequin D, Campion D, Rovelet-Lecrux A and Collaborators C-M | | | Date de publication:
| | | CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders | Mercati O, Huguet G, Danckaert A, Andre-Leroux G, Maruani A, Bellinzoni M, Rolland T, Gouder L, Mathieu A, Buratti J, Amsellem F, Benabou M, Van-Gils J, Beggiato A, Konyukh M, Bourgeois JP, Gazzellone MJ, Yuen RKC, Walker S, Delepine M, Boland A, Regnault B, Francois M, Van Den Abbeele T, Mosca-Boidron AL, Faivre L, Shimoda Y, Watanabe K, Bonneau D, Rastam M, Leboyer M, Scherer SW, Gillberg C, Delorme R, Cloez-Tayarani I and Bourgeron T | | | Date de publication:
| | | Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features | Saultier P, Vidal L, Canault M, Bernot D, Falaise C, Pouymayou C, Bordet JC, Saut N, Rostan A, Baccini V, Peiretti F, Favier M, Lucca P, Deleuze JF, Olaso R, Boland A, Morange PE, Gachet C, Malergue F, Faure S, Eckly A, Tregouet DA, Poggi M and Alessi MC | | | Date de publication:
04/03/2017 | | | Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease | Sims R, van der Lee SJ, Naj AC, Bellenguez C, Badarinarayan N, Jakobsdottir J, Kunkle BW, Boland A, Raybould R, Bis JC, Martin ER, Grenier-Boley B, Heilmann-Heimbach S, Chouraki V, Kuzma AB, Sleegers K, Vronskaya M, Ruiz A, Graham RR, Olaso R, Hoffmann P, Grove ML, Vardarajan BN, Hiltunen M, Nothen MM, White CC, Hamilton-Nelson KL, Epelbaum J, Maier W, Choi SH, Beecham GW, Dulary C, Herms S, Smith AV, Funk CC, Derbois C, Forstner AJ, Ahmad S, Li H, Bacq D, Harold D, Satizabal CL, Valladares O, Squassina A, Thomas R, Brody JA, Qu L, Sanchez-Juan P, Morgan T, Wolters FJ, Zhao Y, Garcia FS, Denning N, Fornage M, Malamon J, Naranjo MCD, Majounie E, Mosley TH, Dombroski B, Wallon D, Lupton MK, Dupuis J, Whitehead P, Fratiglioni L, Medway C, Jian X, Mukherjee S, Keller L, Brown K, Lin H, Cantwell LB, Panza F, McGuinness B, Moreno-Grau S, Burgess JD, Solfrizzi V, Proitsi P, Adams HH, Allen M, Seripa D, Pastor P, Cupples LA, Price ND, Hannequin D, Frank-Garcia A, Levy D, Chakrabarty P, Caffarra P, Giegling I, Beiser AS, Giedraitis V, Hampel H, Garcia ME, Wang X, Lannfelt L, Mecocci P, Eiriksdottir G, Crane PK, Pasquier F, Boccardi V, Henandez I, Barber RC, Scherer M, Tarraga L, Adams PM, Leber M, Chen Y, Albert MS, Riedel-Heller S, Emilsson V, Beekly D, Braae A, Schmidt R, Blacker D, Masullo C, Schmidt H, Doody RS, Spalletta G, Jr WTL, Fairchild TJ, Bossu P, Lopez OL, Frosch MP, Sacchinelli E, Ghetti B, Yang Q, Huebinger RM, Jessen F, Li S, Kamboh MI, Morris J, Sotolongo-Grau O, Katz MJ, Corcoran C, Dunstan M, Braddel A, Thomas C, Meggy A, Marshall R, Gerrish A, Chapman J, Aguilar M, Taylor S, Hill M, Fairen MD, Hodges A, Vellas B, Soininen H, Kloszewska I, Daniilidou M, Uphill J, Patel Y, Hughes JT, Lord J, Turton J, Hartmann AM, Cecchetti R, Fenoglio C, Serpente M, Arcaro M, Caltagirone C, Orfei MD, Ciaramella A, Pichler S, Mayhaus M, Gu W, Lleo A, Fortea J, Blesa R, Barber IS, Brookes K, Cupidi C, Maletta RG, Carrell D, Sorbi S, Moebus S, Urbano M, Pilotto A, Kornhuber J, Bosco P, Todd S, Craig D, Johnston J, Gill M, Lawlor B, Lynch A, Fox NC, Hardy J, Albin RL, Apostolova LG, Arnold SE, Asthana S, Atwood CS, Baldwin CT, Barnes LL, Barral S, Beach TG, Becker JT, Bigio EH, Bird TD, Boeve BF, Bowen JD, Boxer A, Burke JR, Burns JM, Buxbaum JD, Cairns NJ, Cao C, Carlson CS, Carlsson CM, Carney RM, Carrasquillo MM, Carroll SL, Diaz CC, Chui HC, Clark DG, Cribbs DH, Crocco EA, DeCarli C, Dick M, Duara R, Evans DA, Faber KM, Fallon KB, Fardo DW, Farlow MR, Ferris S, Foroud TM, Galasko DR, Gearing M, Geschwind DH, Gilbert JR, Graff-Radford NR, Green RC, Growdon JH, Hamilton RL, Harrell LE, Honig LS, Huentelman MJ, Hulette CM, Hyman BT, Jarvik GP, Abner E, Jin LW, Jun G, Karydas A, Kaye JA, Kim R, Kowall NW, Kramer JH, LaFerla FM, Lah JJ, Leverenz JB, Levey AI, Li G, Lieberman AP, Lunetta KL, Lyketsos CG, Marson DC, Martiniuk F, Mash DC, Masliah E, McCormick WC, McCurry SM, McDavid AN, McKee AC, Mesulam M, Miller BL, Miller CA, Miller JW, Morris JC, Murrell JR, Myers AJ, O'Bryant S, Olichney JM, Pankratz VS, Parisi JE, Paulson HL, Perry W, Peskind E, Pierce A, Poon WW, Potter H, Quinn JF, Raj A, Raskind M, Reisberg B, Reitz C, Ringman JM, Roberson ED, Rogaeva E, Rosen HJ, Rosenberg RN, Sager MA, Saykin AJ, Schneider JA, Schneider LS, Seeley WW, Smith AG, Sonnen JA, Spina S, Stern RA, Swerdlow RH, Tanzi RE, Thornton-Wells TA, Trojanowski JQ, Troncoso JC, Van Deerlin VM, Van Eldik LJ, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Wilhelmsen KC, Williamson J, Wingo TS, Woltjer RL, Wright CB, Yu CE, Yu L, Garzia F, Golamaully F, Septier G, Engelborghs S, Vandenberghe R, De Deyn PP, Fernadez CM, Benito YA, Thonberg H, Forsell C, Lilius L, Kinhult-Stahlbom A, Kilander L, Brundin R, Concari L, Helisalmi S, Koivisto AM, Haapasalo A, Dermecourt V, Fievet N, Hanon O, Dufouil C, Brice A, Ritchie K, Dubois B, Himali JJ, Keene CD, Tschanz J, Fitzpatrick AL, Kukull WA, Norton M, Aspelund T, Larson EB, Munger R, Rotter JI, Lipton RB, Bullido MJ, Hofman A, Montine TJ, Coto E, Boerwinkle E, Petersen RC, Alvarez V, Rivadeneira F, Reiman EM, Gallo M, O'Donnell CJ, Reisch JS, Bruni AC, Royall DR, Dichgans M, Sano M, Galimberti D, St George-Hyslop P, Scarpini E, Tsuang DW, Mancuso M, Bonuccelli U, Winslow AR, Daniele A, Wu CK, Peters O, Nacmias B, Riemenschneider M, Heun R, Brayne C, Rubinsztein DC, Bras J, Guerreiro R, Al-Chalabi A, Shaw CE, Collinge J, Mann D, Tsolaki M, Clarimon J, Sussams R, Lovestone S, O'Donovan MC, Owen MJ, Behrens TW, Mead S, Goate AM, Uitterlinden AG, Holmes C, Cruchaga C, Ingelsson M, Bennett DA, Powell J, Golde TE, Graff C, De Jager PL, Morgan K, Ertekin-Taner N, Combarros O, Psaty BM, Passmore P, Younkin SG, Berr C, Gudnason V, Rujescu D, Dickson DW, Dartigues JF, DeStefano AL, Ortega-Cubero S, Hakonarson H, Campion D, Boada M, Kauwe JK, Farrer LA, Van Broeckhoven C, Ikram MA, Jones L, Haines JL, Tzourio C, Launer LJ, Escott-Price V, Mayeux R, Deleuze JF, Amin N, Holmans PA, Pericak-Vance MA, Amouyel P, van Duijn CM, Ramirez A, Wang LS, Lambert JC, Seshadri S, Williams J and Schellenberg GD | | | Date de publication:
18/07/2017 | | | TRANSCRIPTIONAL DIVERSITY AND DEVELOPMENTAL POTENTIAL OF EARLY HEMATOPOIETIC PROGENITORS REVEALED BY CELLULAR BARCODING AND TRANSCRIPTOME-WIDE PROFILING | Tronik-Le Roux D, Legrand A, Michaels V, Renard J, Chalabi S, Olaso R, Deleuze JF, Battail C and Ezine S | | | Date de publication:
| | | Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia | Broix L, Jagline H, Ivanova EL, Schmucker S, Drouot N, Clayton-Smith J, Pagnamenta AT, Metcalfe KA, Isidor B, Louvier UW, Poduri A, Taylor JC, Tilly P, Poirier K, Saillour Y, Lebrun N, Stemmelen T, Rudolf G, Muraca G, Saintpierre B, Elmorjani A, Moise M, Weirauch NB, Guerrini R, Boland A, Olaso R, Masson C, Tripathy R, Keays D, Beldjord C, Nguyen L, Godin J, Kini U, Nischke P, Deleuze JF, Bahi-Buisson N, Sumara I, Hinckelmann MV, Chelly J and Deciphering Dev Disorders S | | | Date de publication:
| | | Genome-wide nucleosome specificity and function of chromatin remodellers in ES cells | de Dieuleveult M, Yen KY, Hmitou I, Depaux A, Oussouar FB, Dargham DB, Jounier S, Humbertclaude H, Ibierre FR, Baulard C, Farrell NP, Park B, Keime C, Carriere L, Erlivet SB, Gut M, Gut I, Werner M, Deleuze JF, Olaso R, Aude JC, Chantalat S, Pugh BFR and Gerard M | | | Date de publication:
| | | Immunochip analysis identifies association of the RAD50/IL13 region with human longevity | Flachsbart F, Ellinghaus D, Gentschew L, Heinsen FA, Caliebe A, Christiansen L, Nygaard M, Christensen K, Blanche H, Deleuze JF, Derbois C, Galan P, Buning C, Brand S, Peters A, Strauch K, Muller-Nurasyid M, Hoffmann P, Nothen MM, Lieb W, Franke A, Schreiber S and Nebel A | | | Date de publication:
| | | ABCA7 rare variants and Alzheimer disease risk | Le Guennec K, Nicolas G, Quenez O, Charbonnier C, Wallon D, Bellenguez C, Grenier-Boley B, Rousseau S, Richard AC, Rovelet-Lecrux A, Bacq D, Garnier JG, Olaso R, Boland A, Meyer V, Deleuze JF, Amouyel P, Munter HM, Bourque G, Lathrop M, Frebourg T, Redon R, Letenneur L, Dartigues JF, Pasquier F, Rollin-Sillaire A, Genin E, Lambert JC, Hannequin D, Campion D, Collaborator CNR and Collaborator MAJ | | | Date de publication:
| | | Variations of SOST mRNA expression in human bone are associated with DNA polymorphism and DNA methylation in the SOST gene | Lhaneche L, Hald JD, Domingues A, Hannouche D, Delepine M, Zelenika D, Boland A, Ostertag A, Cohen-Solal M, Langdahl BL, Harslof T, de Vernejoul MC, Geoffroy V and Jehan F | | | Date de publication:
| | | SORL1 rare variants: a major risk factor for familial early-onset Alzheimer's disease | Nicolas G, Charbonnier C, Wallon D, Quenez O, Bellenguez C, Grenier-Boley B, Rousseau S, Richard AC, Rovelet-Lecrux A, Le Guennec K, Bacq D, Garnier JG, Olaso R, Boland A, Meyer V, Deleuze JF, Amouyel P, Munter HM, Bourque G, Lathrop M, Frebourg T, Redon R, Letenneur L, Dartigues JF, Genin E, Lambert JC, Hannequin D, Campion D and Collaborators C-M | | | Date de publication:
| | | Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons | 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-Marechal L, Martinaud O, Pariente J, Rollin-Sillaire A, Pasquier F, Le Ber I, Sarazin M, Croisile B, Boutoleau-Bretonniere C, Thomas-Anterion C, Paquet C, Sauvee M, Moreaud O, Gabelle A, Sellal F, Ceccaldi M, Chamard L, Blanc F, Frebourg T, Campion D and Hannequin D | | | Date de publication:
| | | Maladaptative Autophagy Impairs Adipose Function in Congenital Generalized Lipodystrophy due to Cavin-1 Deficiency | Salle-Teyssieres L, Auclair M, Terro F, Nemani M, Elsayed SM, Elsobky E, Lathrop M, Delepine M, Lascols O, Capeau J, Magre J and Vigouroux C | | | Date de publication:
| | | Is there still room for additional common susceptibility alleles for venous thromboembolism? | Tregouet DA, Delluc A, Roche A, Derbois C, Olaso R, Germain M, de Andrade M, Tang W, Chasman DI, Vlieg AV, Reitsma PH, Kabrhel C, Smith N and Morange PE | | | Date de publication:
| | | Mosaic parental germline mutations causing recurrent forms of malformations of cortical development | Zillhardt JL, Poirier K, Broix L, Lebrun N, Elmorjani A, Martinovic J, Saillour Y, Muraca G, Nectoux J, Bessieres B, Fallet-Bianco C, Lyonnet S, Dulac O, Odent S, Rejeb I, Ben Jemaa L, Rivier F, Pinson L, Genevieve D, Musizzano Y, Bigi N, Leboucq N, Giuliano F, Philip N, Vilain C, Van Bogaert P, Maurey H, Beldjord C, Artiguenave F, Boland A, Olaso R, Masson C, Nitschke P, Deleuze JF, Bahi-Buisson N and Chelly J | | | Date de publication:
| | | A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly | Abdulkarim B, Nicolino M, Igoillo-Esteve M, Daures M, Romero S, Philippi A, Senee V, Lopes M, Cunha DA, Harding HP, Derbois C, Bendelac N, Hattersley AT, Eizirik DL, Ron D, Cnop M and Julier C | | | Date de publication:
| | | A new titinopathy Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy | De Cid R, Ben Yaou R, Roudaut C, Charton K, Baulande S, Leturcq F, Romero NB, Malfatti E, Beuvin M, Vihola A, Criqui A, Nelson I, Nectoux J, Ben Aim L, Caloustian C, Olaso R, Udd B, Bonne G, Eymard B and Richard I | | | Date de publication:
| | | Deep Sequencing of the Trypanosoma cruzi GP63 Surface Proteases Reveals Diversity and Diversifying Selection among Chronic and Congenital Chagas Disease Patients | Llewellyn MS, Messenger LA, Luquetti AO, Garcia L, Torrico F, Tavares SBN, Cheaib B, Derome N, Delepine M, Baulard C, Deleuze JF, Sauer S and Miles MA | | | Date de publication:
| | | AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome) | Cacciagli P, Desvignes JP, Girard N, Delepine M, Zelenika D, Lathrop M, Levy N, Ledbetter DH, Dobyns WB and Villard L | | | Date de publication:
| | | Differentially expressed genes in autosomal dominant osteopetrosis type II osteoclasts reveal known and novel pathways for osteoclast biology | Coudert AE, Del Fattore A, Baulard C, Olaso R, Schiltz C, Collet C, Teti A and de Vernejoul MC | | | Date de publication:
| | | Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments | Leblond CS, Nava C, Polge A, Gauthier J, Huguet G, Lumbroso S, Giuliano F, Stordeur C, Depienne C, Mouzaf K, Pinto D, Howe J, Lemiere N, Durand CM, Guibert J, Ey E, Toro R, Peyre H, Mathieu A, Amsellem F, Rastam M, Gillberg IC, Rappold GA, Holt R, Monaco AP, Maestrini E, Galan P, Heron D, Jacquette A, Afenjar A, Rastetter A, Brice A, Devillard F, Assouline B, Laffargue F, Lespinasse J, Chiesa J, Rivier F, Bonneau D, Regnault B, Zelenika D, Delepine M, Lathrop M, Sanlaville D, Schluth-Bolard C, Edery P, Perrin L, Tabet AC, Schmeisser MJ, Boeckers TM, Coleman M, Sato D, Szatmari P, Scherer SW, Rouleau GA, Betancur C, Leboyer M, Gillberg C, Delorme R and Bourgeron T | | | Date de publication:
| | | Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus | Cacciagli P, Sutera-Sardo J, Borges-Correia A, Roux JC, Dorboz I, Desvignes JP, Badens C, Delepine M, Lathrop M, Cau P, Levy N, Girard N, Sarda P, Boespflug-Tanguy O and Villard L | | | Date de publication:
| | | Increased expression of BIN1 mediates Alzheimer genetic risk by modulating tau pathology | Chapuis J, Hansmannel F, Gistelinck M, Mounier A, Van Cauwenberghe C, Kolen KV, Geller F, Sottejeau Y, Harold D, Dourlen P, Grenier-Boley B, Kamatani Y, Delepine M, Demiautte F, Zelenika D, Zommer N, Hamdane M, Bellenguez C, Dartigues JF, Hauw JJ, Letronne F, Ayral AM, Sleegers K, Schellens A, Broeck LV, Engelborghs S, De Deyn PP, Vandenberghe R, O'Donovan M, Owen M, Epelbaum J, Mercken M, Karran E, Bantscheff M, Drewes G, Joberty G, Campion D, Octave JN, Berr C, Lathrop M, Callaerts P, Mann D, Williams J, Buee L, Dewachter I, Van Broeckhoven C, Amouyel P, Moechars D, Dermaut B, Lambert JC and Gerad C | | | Date de publication:
| | | Organelle and Cellular Abnormalities Associated with Hippocampal Heterotopia in Neonatal Doublecortin Knockout Mice | Khalaf-Nazzal R, Bruel-Jungerman E, Rio JP, Bureau J, Irinopoulou T, Sumia I, Roumegous A, Martin E, Olaso R, Parras C, Cifuentes-Diaz C and Francis F | | | Date de publication:
| | | Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease | Lambert JC, Grenier-Boley B, Harold D, Zelenika D, Chouraki V, Kamatani Y, Sleegers K, Ikram MA, Hiltunen M, Reitz C, Mateo I, Feulner T, Bullido M, Galimberti D, Concari L, Alvarez V, Sims R, Gerrish A, Chapman J, Deniz-Naranjo C, Solfrizzi V, Sorbi S, Arosio B, Spalletta G, Siciliano G, Epelbaum J, Hannequin D, Dartigues JF, Tzourio C, Berr C, Schrijvers EMC, Rogers R, Tosto G, Pasquier F, Bettens K, Van Cauwenberghe C, Fratiglioni L, Graff C, Delepine M, Ferri R, Reynolds CA, Lannfelt L, Ingelsson M, Prince JA, Chillotti C, Pilotto A, Seripa D, Boland A, Mancuso M, Bossu P, Annoni G, Nacmias B, Bosco P, Panza F, Sanchez-Garcia F, Del Zompo M, Coto E, Owen M, O'Donovan M, Valdivieso F, Caffara P, Scarpini E, Combarros O, Buee L, Campion D, Soininen H, Breteler M, Riemenschneider M, Van Broeckhoven C, Alperovitch A, Lathrop M, Tregouet DA, Williams J, Amouyel P, Consortium E and Consortium G | | | Date de publication:
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