| Demethylation by low-dose 5-aza-2'-deoxycytidine impairs 3D melanoma invasion partially through miR-199a-3p expression revealing the role of this miR in melanoma | Desjobert C, Carrier A, Delmas A, Marzese DM, Daunay A, Busato F, Pillon A, Tost J, Riond J, Favre G, Etievant C and Arimondo PB | |  | | Learning Differential Module Networks Across Multiple Experimental Conditions | Erola P, Bonnet E and Michoel T | | | | Altered spinogenesis in iPSC-derived cortical neurons from patients with autism carrying de novo SHANK3 mutations | Gouder L, Vitrac A, Goubran-Botros H, Danckaert A, Tinevez JY, Andre-Leroux G, Atanasova E, Lemiere N, Biton A, Leblond CS, Poulet A, Boland A, Deleuze JF, Benchoua A, Delorme R, Bourgeron T and Cloez-Tayarani I | | | | The influence of obesity-related factors in the etiology of renal cell carcinoma-A mendelian randomization study | Johansson M, Carreras-Torres R, Scelo G, Purdue MP, Mariosa D, Muller DC, Timpson NJ, Haycock PC, Brown KM, Wang Z, Ye Y, Hofmann JN, Foll M, Gaborieau V, Machiela MJ, Colli LM, Li P, Garnier JG, Blanche H, Boland A, Burdette L, Prokhortchouk E, Skryabin KG, Yeager M, Radojevic-Skodric S, Ognjanovic S, Foretova L, Holcatova I, Janout V, Mates D, Mukeriya A, Rascu S, Zaridze D, Bencko V, Cybulski C, Fabianova E, Jinga V, Lissowska J, Lubinski J, Navratilova M, Rudnai P, Benhamou S, Cancel-Tassin G, Cussenot O, Weiderpass E, Ljungberg B, Tumkur Sitaram R, Haggstrom C, Bruinsma F, Jordan SJ, Severi G, Winship I, Hveem K, Vatten LJ, Fletcher T, Larsson SC, Wolk A, Banks RE, Selby PJ, Easton DF, Andreotti G, Beane Freeman LE, Koutros S, Mannisto S, Weinstein S, Clark PE, Edwards TL, Lipworth L, Gapstur SM, Stevens VL, Carol H, Freedman ML, Pomerantz MM, Cho E, Wilson KM, Gaziano JM, Sesso HD, Freedman ND, Parker AS, Eckel-Passow JE, Huang WY, Kahnoski RJ, Lane BR, Noyes SL, Petillo D, Teh BT, Peters U, White E, Anderson GL, Johnson L, Luo J, Buring J, Lee IM, Chow WH, Moore LE, Eisen T, Henrion M, Larkin J, Barman P, Leibovich BC, Choueiri TK, Lathrop GM, Deleuze JF, Gunter M, McKay JD, Wu X, Houlston RS, Chanock SJ, Relton C, Richards JB, Martin RM, Davey Smith G and Brennan P | | | | Both rare and common genetic variants contribute to autism in the Faroe Islands | Leblond CS, Cliquet F, Carton C, Huguet G, Mathieu A, Kergrohen T, Buratti J, Lemiere N, Cuisset L, Bienvenu T, Boland A, Deleuze JF, Stora T, Biskupstoe R, Halling J, Andorsdottir G, Billstedt E, Gillberg C and Bourgeron T | | | | A large-scale exome array analysis of venous thromboembolism | Lindstrom S, Brody JA, Turman C, Germain M, Bartz TM, Smith EN, Chen MH, Puurunen M, Chasman D, Hassler J, Pankratz N, Basu S, Guan W, Gyorgy B, Ibrahim M, Empana JP, Olaso R, Jackson R, Braekkan SK, McKnight B, Deleuze JF, O'Donnell CJ, Jouven X, Frazer KA, Psaty BM, Wiggins KL, Taylor K, Reiner AP, Heckbert SR, Kooperberg C, Ridker P, Hansen JB, Tang W, Johnson AD, Morange PE, Tregouet DA, Kraft P, Smith NL and Kabrhel C | | | | Gata3 hypermethylation and Foxp3 hypomethylation are associated with sustained protection and bystander effect following epicutaneous immunotherapy in peanut-sensitized mice | Mondoulet L, Dioszeghy V, Busato F, Plaquet C, Dhelft V, Bethune K, Leclere L, Daviaud C, Ligouis M, Sampson H, Dupont C and Tost J | | | | Circadian genes and risk of prostate cancer: findings from the EPICAP study | Wendeu-Foyet MG, Koudou Y, Cenee S, Tretarre B, Rebillard X, Cancel-Tassin G, Cussenot O, Boland A, Bacq D, Deleuze JF, Lamy PJ, Mulot C, Laurent-Puig P, Truong T and Menegaux F | | | | REACTIVE ASTROCYTES PROMOTE PROTEOSTASIS IN HUNTINGTON'S DISEASE | Abjean L, Ben Haim L, Carrillo-de Sauvage MA, Herard AS, Derbois C, Petit F, Gipstein P, Guillermier M, Gaudin M, Bernier S, Dufour N, Bemelmans A, Deleuze LF, Hantraye P, Bonvento G, Olaso R, Brouillet E and Escartin C | | | | Pregnancy exposure to atmospheric pollution and meteorological conditions and placental DNA methylation | Abraham E, Rousseaux S, Agier L, Giorgis-Allemand L, Tost J, Galineau J, Hulin A, Siroux V, Vaiman D, Charles MA, Heude B, Forhan A, Schwartz J, Chuffart F, Bourova-Flin E, Khochbin S, Slama R and Lepeule J | | | | A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1 | Ame van der Beek N, Nelson I, Froissart R, Levade T, Garcia V, Lacene E, Boland A, Masson C, Romero NB, Stojkovic T, Bonne G and Behin A | | | | A Summary of the Biological Processes, Disease-Associated Changes, and Clinical Applications of DNA Methylation | | | | | miRNA profiling identifies deregulated miRNAs associated with osteosarcoma development and time to metastasis in two large cohorts | Andersen GB, Knudsen A, Hager H, Hansen LL and Tost J | | | | Analysis of shared heritability in common disorders of the brain | Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, Malik R, Patsopoulos NA, Ripke S, Wei Z, Yu DM, Lee PH, Turley P, Grenier-Boley B, Chouraki V, Kamatani Y, Berr C, Letenneur L, Hannequin D, Amouyel P, Boland A, Deleuze JF, Duron E, Vardarajan BN, Reitz C, Goate AM, Huentelman MJ, Kamboh MI, Larson EB, Rogaeva E, St George-Hyslop P, Hakonarson H, Kukull WA, Farrer LA, Barnes LL, Beach TG, Demirci FY, Head E, Hulette CM, Jicha GA, Kauwe JSK, Kaye JA, Leverenz JB, Levey AI, Lieberman AP, Pankratz VS, Poon WW, Quinn JF, Saykin AJ, Schneider LS, Smith AG, Sonnen JA, Stern RA, Van Deerlin VM, Van Eldik LJ, Harold D, Russo G, Rubinsztein DC, Bayer A, Tsolaki M, Proitsi P, Fox NC, Hampel H, Owen MJ, Mead S, Passmore P, Morgan K, Nothen MM, Rossor M, Lupton MK, Hoffmann P, Kornhuber J, Lawlor B, McQuillin A, Al-Chalabi A, Bis JC, Ruiz A, Boada M, Seshadri S, Beiser A, Rice K, van der Lee SJ, De Jager PL, Geschwind DH, Riemenschneider M, Riedel-Heller S, Rotter JI, Ransmayr G, Hyman BT, Cruchaga C, Alegret M, Winsvold B, Palta P, Farh KH, Cuenca-Leon E, Furlotte N, Kurth T, Ligthart L, Terwindt GM, Freilinger T, Ran C, Gordon SD, Borck G, Adams HHH, Lehtimaki T, Wedenoja J, Buring JE, Schurks M, Hrafnsdottir M, Hottenga JJ, Penninx B, Artto V, Kaunisto M, Vepsalainen S, Martin NG, Montgomery GW, Kurki MI, Hamalainen E, Huang HL, Huang J, Sandor C, Webber C, Muller-Myhsok B, Schreiber S, Salomaa V, Loehrer E, Gobel H, Macaya A, Pozo-Rosich P, Hansen T, Werge T, Kaprio J, Metspalu A, Kubisch C, Ferrari MD, Belin AC, van den Maagdenberg A, Zwart JA, Boomsma D, Eriksson N, Olesen J, Chasman DI, Nyholt DR, Avbersek A, Baum L, Berkovic S, Bradfield J, Buono R, Catarino CB, Cossette P, De Jonghe P, Depondt C, Dlugos D, Ferraro TN, French J, Hjalgrim H, Jamnadas-Khoda J, Kalviainen R, Kunz WS, Lerche H, Leu C, Lindhout D, Lo W, Lowenstein D, McCormack M, Moller RS, Molloy A, Ng PW, Oliver K, Privitera M, Radtke R, Ruppert AK, Sander T, Schachter S, Schankin C, Scheffer I, Schoch S, Sisodiya SM, Smith P, Sperling M, Striano P, Surges R, Thomas GN, Visscher F, Whelan CD, Zara F, Heinzen EL, Marson A, Becker F, Stroink H, Zimprich F, Gasser T, Gibbs R, Heutink P, Martinez M, Morris HR, Sharma M, Ryten M, Mok KY, Pulit S, Bevan S, Holliday E, Attia J, Battey T, Boncoraglio G, Thijs V, Chen WM, Mitchell B, Rothwell P, Sharma P, Sudlow C, Vicente A, Markus H, Kourkoulis C, Pera J, Raffeld M, Silliman S, Perica VB, Thornton LM, Huckins LM, Rayner NW, Lewis CM, Gratacos M, Rybakowski F, Keski-Rahkonen A, Raevuori A, Hudson JI, Reichborn-Kjennerud T, Monteleone P, Karwautz A, Mannik K, Baker JH, O'Toole JK, Trace SE, Davis OSP, Helder SG, Ehrlich S, Herpertz-Dahlmann B, Danner UN, van Elburg AA, Clementi M, Forzan M, Docampo E, Lissowska J, Hauser J, Tortorella A, Maj M, Gonidakis F, Tziouvas K, Papezova H, Yilmaz Z, Wagner G, Cohen-Woods S, Herms S, Julia A, Rabionet R, Dick DM, Ripatti S, Andreassen OA, Espeseth T, Lundervold AJ, Steen VM, Pinto D, Scherer SW, Aschauer H, Schosser A, Alfredsson L, Padyukov L, Halmi KA, Mitchell J, Strober M, Bergen AW, Kaye W, Szatkiewicz JP, Cormand B, Ramos-Quiroga JA, Sanchez-Mora C, Ribases M, Casas M, Hervas A, Arranz MJ, Haavik J, Zayats T, Johansson S, Williams N, Dempfle A, Rothenberger A, Kuntsi J, Oades RD, Banaschewski T, Franke B, Buitelaar JK, Vasquez AA, Doyle AE, Reif A, Lesch KP, Freitag C, Rivero O, Palmason H, Romanos M, Langley K, Rietschel M, Witt SH, Dalsgaard S, Borglum AD, Waldman I, Wilmot B, Molly N, Bau CHD, Crosbie J, Schachar R, Loo SK, McGough JJ, Grevet EH, Medland SE, Robinson E, Weiss LA, Bacchelli E, Bailey A, Bal V, Battaglia A, Betancur C, Bolton P, Cantor R, Celestino-Soper P, Dawson G, Rubeis S, Duque F, Green A, Klauck SM, Leboyer M, Levitt P, Maestrini E, Mane S, Moreno-De-Luca D, Parr J, Regan R, Reichenberg A, Sandin S, Vorstman J, Wassink T, Wijsman E, Cook E, Santangelo S, Delorme R, Roge B, Magalhaes T, Arking D, Schulze TG, Thompson RC, Strohmaier J, Matthews K, Melle I, Morris D, Blackwood D, McIntosh A, Bergen SE, Schalling M, Jamain S, Maaser A, Fischer SB, Reinbold CS, Fullerton JM, Guzman-Parra J, Mayoral F, Schofield PR, Cichon S, Muhleisen TW, Degenhardt F, Schumacher J, Bauer M, Mitchell PB, Gershon ES, Rice J, Potash JB, Zandi PP, Craddock N, Ferrier IN, Alda M, Rouleau GA, Turecki G, Ophoff R, Pato C, Anjorin A, Stahl E, Leber M, Czerski PM, Cruceanu C, Jones IR, Posthuma D, Andlauer TFM, Forstner AJ, Streit F, Baune BT, Air T, Sinnamon G, Wray NR, MacIntyre DJ, Porteous D, Homuth G, Rivera M, Grove J, Middeldorp CM, Hickie I, Pergadia M, Mehta D, Smit JH, Jansen R, de Geus E, Dunn E, Li QQS, Nauck M, Schoevers RA, Beekman ATF, Knowles JA, Viktorin A, Arnold P, Barr CL, Bedoya-Berrio G, Bienvenu OJ, Brentani H, Burton C, Camarena B, Cappi C, Cath D, Cavallini M, Cusi D, Darrow S, Denys D, Derks EM, Dietrich A, Fernandez T, Figee M, Freimer N, Gerber G, Grados M, Greenberg E, Hanna GL, Hartmann A, Hirschtritt ME, Hoekstra PJ, Huang A, Huyser C, Illmann C, Jenike M, Kuperman S, Leventhal B, Lochner C, Lyon GJ, Macciardi F, Madruga-Garrido M, Malaty IA, Maras A, McGrath L, Miguel EC, Mir P, Nestadt G, Nicolini H, Okun MS, Pakstis A, Paschou P, Piacentini J, Pittenger C, Plessen K, Ramensky V, Ramos EM, Reus V, Richter MA, Riddle MA, Robertson MM, Roessner V, Rosario M, Samuels JF, Sandor P, Stein DJ, Tsetsos F, Van Nieuwerburgh F, Weatherall S, Wendland JR, Wolanczyk T, Worbe Y, Zai G, Goes FS, McLaughlin N, Nestadt PS, Grabe HJ, Depienne C, Konkashbaev A, Lanzagorta N, Valencia-Duarte A, Bramon E, Buccola N, Cahn W, Cairns M, Chong SA, Cohen D, Crespo-Facorro B, Crowley J, Davidson M, DeLisi L, Dinan T, Donohoe G, Drapeau E, Duan J, Haan L, Hougaard D, Karachanak-Yankova S, Khrunin A, Klovins J, Kucinskas V, Keong JLC, Limborska S, Loughland C, Lonnqvist J, Maher B, Mattheisen M, McDonald C, Murphy KC, Nenadic I, van Os J, Pantelis C, Pato M, Petryshen T, Quested D, Roussos P, Sanders AR, Schall U, Schwab SG, Sim K, So HC, Stogmann E, Subramaniam M, Toncheva D, Waddington J, Walters J, Weiser M, Cheng W, Cloninger R, Curtis D, Gejman PV, Henskens F, Mattingsdal M, Oh SY, Scott R, Webb B, Breen G, Churchhouse C, Bulik CM, Daly M, Dichgans M, Faraone SV, Guerreiro R, Holmans P, Kendler KS, Koeleman B, Mathews CA, Price A, Scharf J, Sklar P, Williams J, Wood NW, Cotsapas C, Palotie A, Smoller JW, Sullivan P, Rosand J, Corvin A, Neale BM and Brainstorm C | | | | Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations | Assoum M, Lines MA, Elpeleg O, Darmency V, Whiting S, Edvardson S, Devinsky O, Heinzen E, Hernan RR, Antignac C, Deleuze JF, Des Portes V, Bertholet-Thomas A, Belot A, Geller E, Lemesle M, Duffourd Y, Thauvin-Robinet C, Thevenon J, Chung W, Lowenstein DH and Faivre L | | | | Association of modifiers and other genetic factors explain Marfan syndrome clinical variability | Aubart M, Gazal S, Arnaud P, Benarroch L, Gross MS, Buratti J, Boland A, Meyer V, Zouali H, Hanna N, Milleron O, Stheneur C, Bourgeron T, Desguerre I, Jacob MP, Gouya L, Genin E, Deleuze JF, Jondeau G and Boileau C | | | | Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies | Avila-Polo R, Malfatti E, Lornage X, Cheraud C, Nelson I, Nectoux J, Bohm J, Schneider R, Hedberg-Oldfors C, Eymard B, Monges S, Lubieniecki F, Brochier G, Thao Bui M, Madelaine A, Labasse C, Beuvin M, Lacene E, Boland A, Deleuze JF, Thompson J, Richard I, Taratuto AL, Udd B, Leturcq F, Bonne G, Oldfors A, Laporte J and Romero NB | | | | Molecular and Computational Methods for the Detection of Microsatellite Instability in Cancer | Baudrin LG, Deleuze JF and How-Kit A | | | | Improved Microsatellite Instability Detection and Identification by Nuclease-Assisted Microsatellite Instability Enrichment Using HSP110 T17 | Baudrin LG, Duval A, Daunay A, Buhard O, Bui H, Deleuze JF and How-Kit A | | | | Cyclin A2/E1 activation defines a hepatocellular carcinoma subclass with a rearrangement signature of replication stress | Bayard Q, Meunier L, Peneau C, Renault V, Shinde J, Nault JC, Mami I, Couchy G, Amaddeo G, Tubacher E, Bacq D, Meyer V, La Bella T, Debaillon-Vesque A, Bioulac-Sage P, Seror O, Blanc JF, Calderaro J, Deleuze JF, Imbeaud S, Zucman-Rossi J and Letouze E | | | | Status of potato viruses in Tunisia and molecular characterization of Tunisian Potato Virus X (PVX) isolates | Ben Hafsa A, Nabi N, Saamali BM, Zellama MS, Theil S, Faure C, Berard A, Brunel D, Le Paslier MC, Marais A, Candresse T and Chaouachi M | | | | Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation | Bis JC, Jian X, Kunkle BW, Chen Y, Hamilton-Nelson KL, Bush WS, Salerno WJ, Lancour D, Ma Y, Renton AE, Marcora E, Farrell JJ, Zhao Y, Qu L, Ahmad S, Amin N, Amouyel P, Beecham GW, Below JE, Campion D, Charbonnier C, Chung J, Crane PK, Cruchaga C, Cupples LA, Dartigues JF, Debette S, Deleuze JF, Fulton L, Gabriel SB, Genin E, Gibbs RA, Goate A, Grenier-Boley B, Gupta N, Haines JL, Havulinna AS, Helisalmi S, Hiltunen M, Howrigan DP, Ikram MA, Kaprio J, Konrad J, Kuzma A, Lander ES, Lathrop M, Lehtimaki T, Lin H, Mattila K, Mayeux R, Muzny DM, Nasser W, Neale B, Nho K, Nicolas G, Patel D, Pericak-Vance MA, Perola M, Psaty BM, Quenez O, Rajabli F, Redon R, Reitz C, Remes AM, Salomaa V, Sarnowski C, Schmidt H, Schmidt M, Schmidt R, Soininen H, Thornton TA, Tosto G, Tzourio C, van der Lee SJ, van Duijn CM, Vardarajan B, Wang W, Wijsman E, Wilson RK, Witten D, Worley KC, Zhang X, Bellenguez C, Lambert JC, Kurki MI, Palotie A, Daly M, Boerwinkle E, Lunetta KL, Destefano AL, Dupuis J, Martin ER, Schellenberg GD, Seshadri S, Naj AC, Fornage M and Farrer LA | | | | Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures | Bohm J, Malfatti E, Oates E, Jones K, Brochier G, Boland A, Deleuze JF, Romero NB and Laporte J | | | | 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 | | | | 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 | | | | Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm | Bourcier R, Le Scouarnec S, Bonnaud S, Karakachoff M, Bourcereau E, Heurtebise-Chretien S, Menguy C, Dina C, Simonet F, Moles A, Lenoble C, Lindenbaum P, Chatel S, Isidor B, Genin E, Deleuze JF, Schott JJ, Le Marec H, Loirand G, Desal H and Redon R | | | | The Comoros Show the Earliest Austronesian Gene Flow into the Swahili Corridor | Brucato N, Fernandes V, Mazieres S, Kusuma P, Cox MP, Ng'ang'a JW, Omar M, Simeone-Senelle MC, Frassati C, Alshamali F, Fin B, Boland A, Deleuze JF, Stoneking M, Adelaar A, Crowther A, Boivin N, Pereira L, Bailly P, Chiaroni J and Ricaut FX | | | | Quantitative DNA Methylation Analysis at Single-Nucleotide Resolution by Pyrosequencing(R) | Busato F, Dejeux E, El Abdalaoui H, Gut IG and Tost J | | | | Systemic AA Amyloidosis Caused by Inflammatory Hepatocellular Adenoma | Calderaro J, Letouze E, Bayard Q, Boulai A, Renault V, Deleuze JF, Bestard O, Franco D, Zafrani ES, Nault JC, Moutschen M and Zucman-Rossi J | | | | 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 | | | | Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human | Coutton C, Vargas AS, Amiri-Yekta A, Kherraf ZE, Ben Mustapha SF, Le Tanno P, Wambergue-Legrand C, Karaouzene T, Martinez G, Crouzy S, Daneshipour A, Hosseini SH, Mitchell V, Halouani L, Marrakchi O, Makni M, Latrous H, Kharouf M, Deleuze JF, Boland A, Hennebicq S, Satre V, Jouk PS, Thierry-Mieg N, Conne B, Dacheux D, Landrein N, Schmitt A, Stouvenel L, Lores P, El Khouri E, Bottari SP, Faure J, Wolf JP, Pernet-Gallay K, Escoffier J, Gourabi H, Robinson DR, Nef S, Dulioust E, Zouari R, Bonhivers M, Toure A, Arnoult C and Ray PF | | | | The Transcription Factor STAT6 Mediates Direct Repression of Inflammatory Enhancers and Limits Activation of Alternatively Polarized Macrophages | Czimmerer Z, Daniel B, Horvath A, Ruckerl D, Nagy G, Kiss M, Peloquin M, Budai MM, Cuaranta-Monroy I, Simandi Z, Steiner L, Nagy B, Poliska S, Banko C, Bacso Z, Schulman IG, Sauer S, Deleuze JF, Allen JE, Benko S and Nagy L | | | | Extensive and functional overlap of the STAT6 and RXR cistromes in the active enhancer repertoire of human CD14+ monocyte derived differentiating macrophages | Czimmerer Z, Nagy ZS, Nagy G, Horvath A, Silye-Cseh T, Kriston A, Jonas D, Sauer S, Steiner L, Daniel B, Deleuze JF and Nagy L | | | | Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement | Dabaj I, Carlier RY, Gomez-Andres D, Abath Neto O, Bertini E, D'Amico A, Fattori F, Pereon Y, Castiglioni C, Rodillo E, Catteruccia M, Guimaraes JB, Oliveira ASB, Reed UC, Mesrob L, Lechner D, Boland A, Deleuze JF, Malfatti E, Bonnemann C, Laporte J, Romero N, Felter A, Quijano-Roy S, Moreno CAM and Zanoteli E | | | | Whole-Genome Bisulfite Sequencing Using the Ovation(R) Ultralow Methyl-Seq Protocol | Daviaud C, Renault V, Mauger F, Deleuze JF and Tost J | | | | Genome-Wide Association Study Identifies a Novel Genetic Risk Factor for Recurrent Venous Thrombosis | de Haan HG, Vlieg AV, Germain M, Baglin TP, Deleuze JF, Tregouet DA and Rosendaal FR | | | | STAT3 Mediates Nilotinib Response in KIT-Altered Melanoma: A Phase II Multicenter Trial of the French Skin Cancer Network | Delyon J, Chevret S, Jouary T, Dalac S, Dalle S, Guillot B, Arnault JP, Avril MF, Bedane C, Bens G, Pham-Ledard A, Mansard S, Grange F, Machet L, Meyer N, Legoupil D, Saiag P, Idir Z, Renault V, Deleuze JF, Hindie E, Battistella M, Dumaz N, Mourah S, Lebbe C and Canc GCCFGS | | | | QuantumClone: Clonal assessment of functional mutations in cancer based on a genotype-aware method for clonal reconstruction | Deveau P, Colmet Daage L, Oldridge D, Bernard V, Bellini A, Chicard M, Clement N, Lapouble E, Combaret V, Boland A, Meyer V, Deleuze JF, Janoueix-Lerosey I, Barillot E, Delattre O, Maris J, Schleiermacher G and Boeva V | | | | 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 | | | | 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 | | | | MICRORNAS DYSREGULATION IN MONOCYTES AND T CD4 LYMPHOCYTES FROM PATIENTS WITH AXIAL SPONDYLOARTHRITIS | Fogel O, Tingaard AB, Fagny M, Sigrist N, Roche E, Leclere L, Deleuze JF, Dougados M, Miceli-Richard C and Tost J | | | | MicroRNAs DEREGULATION IN MONOCYTES AND CD4+T-LYMPHOCYTES FROM PATIENTS WITH AXIAL SPONDYLOARTHRITIS | Fogel O, Tingaard AB, Fagny M, Sigrist N, Roche E, Leclere L, Deleuze JF, Dougados M, Tost J and Miceli-Richard C | | | | Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140 | Geoffroy V, Stoetzel C, Scheidecker S, Schaefer E, Perrault I, Bar S, Kroll A, Delbarre M, Antin M, Leuvrey AS, Henry C, Blanche H, Decker E, Kloth K, Klaus G, Mache C, Martin-Coignard D, McGinn S, Boland A, Deleuze JF, Friant S, Saunier S, Rozet JM, Bergmann C, Dollfus H and Muller J | | | | 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 | | | | Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia | Guissart C, Latypova X, Rollier P, Khan TN, Stamberger H, McWalter K, Cho MT, Kjaergaard S, Weckhuysen S, Lesca G, Besnard T, Ounap K, Schema L, Chiocchetti AG, McDonald M, de Bellescize J, Vincent M, Van Esch H, Sattler S, Forghani I, Thiffault I, Freitag CM, Barbouth DS, Cadieux-Dion M, Willaert R, Guillen Sacoto MJ, Safina NP, Dubourg C, Grote L, Carre W, Saunders C, Pajusalu S, Farrow E, Boland A, Karlowicz DH, Deleuze JF, Wojcik MH, Pressman R, Isidor B, Vogels A, Van Paesschen W, Al-Gazali L, Al Shamsi AM, Claustres M, Pujol A, Sanders SJ, Rivier F, Leboucq N, Cogne B, Sasorith S, Sanlaville D, Retterer K, Odent S, Katsanis N, Bezieau S, Koenig M, Davis EE, Pasquier L and Kury S | | | | Major improvement in the detection of microsatellite instability in colorectal cancer using HSP110 T17 E-ice-COLD-PCR | How-Kit A, Daunay A, Buhard O, Meiller C, Sahbatou M, Collura A, Duval A and Deleuze JF | | | | Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing | Husson T, Duboc JB, Quenez O, Charbonnier C, Rotharmel M, Cuenca M, Jegouzo X, Richard AC, Frebourg T, Deleuze JF, Boland A, Genin E, Debette S, Tzourio C, Campion D, Nicolas G and Guillin O | | | | LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters | Imbert-Bouteille M, Mau Them FT, Thevenon J, Guignard T, Gatinois V, Riviere JB, Boland A, Meyer V, Deleuze JF, Sanchez E, Apparailly F, Genevieve D and Willems M | | | | Disentangling the Causes for Faster-X Evolution in Aphids | Jaquiery J, Peccoud J, Ouisse T, Legeai F, Prunier-Leterme N, Gouin A, Nouhaud P, Brisson JA, Bickel R, Purandare S, Poulain J, Battail C, Lemaitre C, Mieuzet L, Le Trionnaire G, Simon JC and Rispe C | | | | Disentangling the Causes for Faster-X Evolution in Aphids | Jaquiery J, Peccoud J, Ouisse T, Legeai F, Prunier-Leterme N, Gouin A, Nouhaud P, Brisson JA, Bickel R, Purandare S, Poulain J, Battail C, Lemaitre C, Mieuzet L, Le Trionnaire G, Simon JC and Rispe C | | | | Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families | Jonson PH, Palmio J, Johari M, Penttila S, Evila A, Nelson I, Bonne G, Wiart N, Meyer V, Boland A, Deleuze JF, Masson C, Stojkovic T, Chapon F, Romero NB, Sole G, Ferrer X, Ferreiro A, Hackman P, Richard I and Udd B | | | | Whole-Genome Bisulfite Sequencing for the Analysis of Genome-Wide DNA Methylation and Hydroxymethylation Patterns at Single-Nucleotide Resolution | Kernaleguen M, Daviaud C, Shen Y, Bonnet E, Renault V, Deleuze JF, Mauger F and Tost J | | | | MACARON: A python framework to identify and re-annotate multi-base affected codons in whole genome/exome sequence data | Khan W, Saripella GV, Ludwig T, Cuppens T, Thibord F, Genin E, Deleuze JF and Tregouet DA | | | | Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning | Laugel-Haushalter V, Morkmued S, Stoetzel C, Geoffroy V, Muller J, Boland A, Deleuze JF, Chennen K, Pitiphat W, Dollfus H, Niederreither K, Bloch-Zupan A and Pungchanchaikul P | | | | Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer's Disease Patient | Le Guennec K, Tubeuf H, Hannequin D, Wallon D, Quenez O, Rousseau S, Richard AC, Deleuze JF, Boland A, Frebourg T, Gaildrat P, Campion D, Martins A and Nicolas G | | | | White Blood Cell BRCA1 Promoter Methylation Status and Ovarian Cancer Risk | Lonning PE, Berge EO, Bjornslett M, Minsaas L, Chrisanthar R, Hoberg-Vetti H, Dulary C, Busato F, Bjorneklett S, Eriksen C, Kopperud R, Axcrona U, Davidson B, Bjorge L, Evans DG, Howell A, Salvesen HB, Janszky I, Hveem K, Romundstad PR, Vatten LJ, Tost J, Dorum A and Knappskog S | | | | Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei | Lornage X, Sabouraud P, Lannes B, Gaillard D, Schneider R, Deleuze JF, Boland A, Thompson J, Bohm J, Biancalana V and Laporte J | | | | "Corrigendum re ""Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma"" [Eur Urol 2017, 72:747-54]" | Machiela MJ, Hofmann JN, Carreras-Torres R, Brown KM, Johansson M, Wang Z, Foll M, Li P, Rothman N, Savage SA, Gaborieau V, McKay JD, Ye Y, Henrion M, Bruinsma F, Jordan S, Severi G, Hveem K, Vatten LJ, Fletcher T, Koppova K, Larsson SC, Wolk A, Banks RE, Selby PJ, Easton DF, Pharoah P, Andreotti G, Freeman LEB, Koutros S, Albanes D, Mannisto S, Weinstein S, Clark PE, Edwards TE, Lipworth L, Gapstur SM, Stevens VL, Carol H, Freedman ML, Pomerantz MM, Cho E, Kraft P, Preston MA, Wilson KM, Gaziano JM, Sesso HS, Black A, Freedman ND, Huang WY, Anema JG, Kahnoski RJ, Lane BR, Noyes SL, Petillo D, Colli LM, Sampson JN, Besse C, Blanche H, Boland A, Burdette L, Prokhortchouk E, Skryabin KG, Yeager M, Mijuskovic M, Ognjanovic M, Foretova L, Holcatova I, Janout V, Mates D, Mukeriya A, Rascu S, Zaridze D, Bencko V, Cybulski C, Fabianova E, Jinga V, Lissowska J, Lubinski J, Navratilova M, Rudnai P, Szeszenia-Dabrowska N, Benhamou S, Cancel-Tassin G, Cussenot O, Bueno-de-Mesquita HBA, Canzian F, Duell EJ, Ljungberg B, Sitaram RT, Peters U, White E, Anderson GL, Johnson L, Luo J, Buring J, Lee IM, Chow WH, Moore LE, Wood C, Eisen T, Larkin J, Choueiri TK, Lathrop GM, Teh BT, Deleuze JF, Wu X, Houlston RS, Brennan P, Chanock SJ, Scelo G and Purdue MP | | | | Dynamic changes of DNA methylation and lung disease in cystic fibrosis: lessons from a monogenic disease | Magalhaes M, Tost J, Pineau F, Rivals I, Busato F, Alary N, Mely L, Leroy S, Murris M, Caimmi D, Claustres M, Chiron R and Sario A | | | | 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 | | | | Enrichment of methylated molecules using enhanced-ice-co-amplification at lower denaturation temperature-PCR (E-ice-COLD-PCR) for the sensitive detection of disease-related hypermethylation | Mauger F, Kernaleguen M, Lallemand C, Kristensen VN, Deleuze JF and Tost J | | | | Unique epigenetic signature in T cell compartment after epicutaneous immunotherapy in peanut sensitized mice | Mondoulet L, Dioszeghy V, Plaquet C, Roche E, Dhelft V, Busato F, Dupont C, Sampson HA and Tost J | Journal of Allergy and Clinical Immunology 141 (2), AB121-AB121, 2018 | | | BVES loss-of-function mutations in limb-girdle muscular dystrophy 2X with cardiac conduction disorders | Nelson I, De Ridder W, Asselbergh B, De Paepe B, Beuvin M, Ben Yaou R, Boland A, Deleuze J, Maisonobe T, Eymard B, De Bleecker J, Symoens S, Schindler R, Brand T, Topf A, Johnson K, Straub V, De Jonghe P, Baets J and Bonne G | Neuromuscular Disorders 28 (), S59-S60, 2018 | | | A General Framework for Interrogation of mRNA Stability Programs Identifies RNA-Binding Proteins that Govern Cancer Transcriptomes | Perron G, Jandaghi P, Solanki S, Safisamghabadi M, Storoz C, Karimzadeh M, Papadakis AI, Arseneault M, Scelo G, Banks RE, Tost J, Lathrop M, Tanguay S, Brazma A, Huang S, Brimo F, Najafabadi HS and Riazalhosseini Y | | | | Strong selection during the last millennium for African ancestry in the admixed population of Madagascar | Pierron D, Heiske M, Razafindrazaka H, Pereda-Loth V, Sanchez J, Alva O, Arachiche A, Boland A, Olaso R, Deleuze JF, Ricaut FX, Rakotoarisoa JA, Radimilahy C, Stoneking M and Letellier T | | | | Consequences of VHL Loss on Global DNA Methylome | Robinson CM, Lefebvre F, Poon BP, Bousard A, Fan X, Lathrop M, Tost J, Kim WY, Riazalhosseini Y and Ohh M | | | | RXR heterodimers orchestrate transcriptional control of neurogenesis and cell fate specification | Simandi Z, Horvath A, Cuaranta-Monroy I, Sauer S, Deleuze JF and Nagy L | | | | 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 | Genomics and Computational Biology 4 (1), , 2018 | | | Methylation of imprinted IGF2 regions is associated with total, visceral, and hepatic adiposity in postmenopausal women | Song MA, Ernst T, Tiirikainen M, Tost J, Wilkens LR, Chang LD, Kolonel LN, Le Marchand L and Lim U | | | | Epigenetics in Forest Trees: State of the Art and Potential Implications for Breeding and Management in a Context of Climate Change | Sow MD, Allona I, Ambroise C, Conde D, Fichot R, Gribkova S, Jorge V, Le-Provost G, Paques L, Plomion C, Salse J, Sanchez-Rodriguez L, Segura V, Tost J and Maury S | | | | Clarifying the role of DNA methylation in tree phenotypic plasticity | Sow MD, Le Gac A, Lafon-Placette C, Delaunay A, Le Jan I, Fichot R, Maury S, Mirouze M, Lanciano S, Tost J, Segura V, Chaparro C, Grunau C, Allona I, Le Provost G, Plomion C, Salse J, Ambroise C, Gribkova S and Strauss SH | FEBS Open Bio 8 (), 138-138, 2018 | | | Risk profile, quality of life and care of patients with moderate and advanced CKD : The French CKD-REIN Cohort Study | Stengel B, Metzger M, Combe C, Jacquelinet C, Briancon S, Ayav C, Fouque D, Laville M, Frimat L, Pascal C, Herpe YE, Morel P, Deleuze JF, Schanstra JP, Lange C, Legrand K, Speyer E, Liabeuf S, Robinson BM and Massy ZA | | | | Artificial intelligence in internal medicine: Between science and pseudoscience | Stoekle HC, Charlier P, Herve C, Deleuze JF and Vogt G | | | | The ownersnip of genetic data: from data to information | Stoekle HC, Forster N, Turrini M, Charlier P, Herve C, Deleuze JF and Vogt G | | | | A translational perspective on epigenetics in allergic diseases | | | | | Epigenetic plasticity of eosinophils and other immune cell subsets in childhood asthma | | | | | Specific miRNA expression changes influencing T cell plasticity and Th2 cytokine production in a mouse model of peanut sensitized mice treated with epicutaneous immunotherapy | Tost J, Shen Y, Roche E, Plaquet C, Dhelft V, Daviaud C, Sampson H, Dupont C and Mondoulet L | Allergy 73 (), 159-160, 2018 | | | Specific miRNA expression changes influencing T cell plasticity and Th2 cytokine production in a mouse model of peanut sensitized mice treated with epicutaneous immunotherapy | Tost J, Shen Y, Roche E, Plaquet C, Dhelft V, Daviaud C, Sampson H, Dupont C and Mondoulet L | Allergy 73 (), 159-160, 2018 | | | Twin DNA methylation profiling reveals flare-dependent interferon signature and B-cell promoter hypermethylation in systemic lupus erythematosus | Ulff-Moller CJ, Asmar F, Liu Y, Svendsen AJ, Busato F, Gronbaek K, Tost J and Jacobsen S | | | | Comparative methylome analysis of ICF patients identifies heterochromatin loci that require ZBTB24, CDCA7 and HELLS for their methylated state | Velasco G, Grillo G, Touleimat N, Ferry L, Ivkovic I, Ribierre F, Deleuze JF, Chantalat S, Picard C and Francastel C | | | | Whole genome sequencing identifies a de novo 2.1Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disability | Vuillaume ML, Cogne B, Jeanne M, Boland A, Ung DC, Quinquis D, Besnard T, Deleuze JF, Redon R, Bezieau S, Laumonnier F and Toutain A | | | | Severe PATCHED1 Deficiency in Cancer-Prone Gorlin Patient Cells Results in Intrinsic Radiosensitivity | Vulin A, Sedkaoui M, Moratille S, Sevenet N, Soularue P, Rigaud O, Guibbal L, Dulong J, Jeggo P, Deleuze JF, Lamartine J and Martin MT | | | | Deregulation of microRNA expression in purified T and B lymphocytes from patients with primary Sjogren's syndrome | Wang-Renault SF, Boudaoud S, Nocturne G, Roche E, Sigrist N, Daviaud C, Tinggaard AB, Renault V, Deleuze JF, Mariette X and Tost J | | | | Epigenome-wide DNA methylation profiling in Progressive Supranuclear Palsy reveals major changes at DLX1 | Weber A, Schwarz SC, Tost J, Trumbach D, Winter P, Busato F, Tacik P, Windhorst AC, Fagny M, Arzberger T, McLean C, van Swieten JC, Schwarz J, Vogt Weisenhorn D, Wurst W, Adhikary T, Dickson DW, Hoglinger GU and Muller U | | | | B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation | Yauy K, Mau-Them FT, Willems M, Coubes C, Blanchet P, Herlin C, Arrada IT, Sanchez E, Faure JM, Le Gac MP, Prodhomme O, Boland A, Meyer V, Riviere JB, Duffourd Y, Deleuze JF, Guignard T, Captier G, Barat-Houari M and Genevieve D | | | | Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients | Abath Neto O, Moreno CAM, Malfatti E, Donkervoort S, Bohm J, Guimaraes JB, Foley AR, Mohassel P, Dastgir J, Bharucha-Goebel DX, Monges S, Lubieniecki F, Collins J, Medne L, Santi M, Yum S, Banwell B, Salort-Campana E, Rendu J, Faure J, Yis U, Eymard B, Cheraud C, Schneider R, Thompson J, Lornage X, Mesrob L, Lechner D, Boland A, Deleuze JF, Reed UC, Oliveira ASB, Biancalana V, Romero NB, Bonnemann CG, Laporte J and Zanoteli E | | | | Immortalized human myotonic dystrophy muscle cell lines to assess therapeutic compounds | Arandel L, Espinoza MP, Matloka M, Bazinet A, Diniz DD, Naouar N, Rau F, Jollet A, Edom-Vovard F, Mamchaoui K, Tarnopolsky M, Puymirat J, Battail C, Boland A, Deleuze JF, Mouly V, Klein AF and Furling D | | | | Loss of chromosome Y leads to down regulation of KDM5D and KDM6C epigenetic modifiers in clear cell renal cell carcinoma | Arseneault M, Monlong J, Vasudev NS, Laskar RS, Safisamghabadi M, Harnden P, Egevad L, Nourbehesht N, Panichnantakul P, Holcatova I, Brisuda A, Janout V, Kollarova H, Foretova L, Navratilova M, Mates D, Jinga V, Zaridze D, Mukeria A, Jandaghi P, Brennan P, Brazma A, Tost J, Scelo G, Banks RE, Lathrop M, Bourque G and Riazalhosseini Y | | | | The sunflower genome provides insights into oil metabolism, flowering and Asterid evolution | Badouin H, Gouzy J, Grassa CJ, Murat F, Staton SE, Cottret L, Lelandais-Briere C, Owens GL, Carrere S, Mayjonade B, Legrand L, Gill N, Kane NC, Bowers JE, Hubner S, Bellec A, Berard A, Berges H, Blanchet N, Boniface MC, Brunel D, Catrice O, Chaidir N, Claudel C, Donnadieu C, Faraut T, Fievet G, Helmstetter N, King M, Knapp SJ, Lai Z, Le Paslier MC, Lippi Y, Lorenzon L, Mandel JR, Marage G, Marchand G, Marquand E, Bret-Mestries E, Morien E, Nambeesan S, Nguyen T, Pegot-Espagnet P, Pouilly N, Raftis F, Sallet E, Schiex T, Thomas J, Vandecasteele C, Vares D, Vear F, Vautrin S, Crespi M, Mangin B, Burke JM, Salse J, Munos S, Vincourt P, Rieseberg LH and Langlade NB | | | | Corrigendum: Parallel evolution of non-homologous isofunctional enzymes in methionine biosynthesis | Bastard K, Perret A, Mariage A, Bessonnet T, Pinet-Turpault A, Petit JL, Darii E, Bazire P, Vergne-Vaxelaire C, Brewee C, Debard A, Pellouin V, Besnard-Gonnet M, Artiguenave F, Medigue C, Vallenet D, Danchin A, Zaparucha A, Weissenbach J, Salanoubat M and de Berardinis V | | | | Parallel evolution of non-homologous isofunctional enzymes in methionine biosynthesis | Bastard K, Perret A, Mariage A, Bessonnet T, Pinet-Turpault A, Petit JL, Darii E, Bazire P, Vergne-Vaxelaire C, Brewee C, Debard A, Pellouin V, Besnard-Gonnet M, Artiguenave F, Medigue C, Vallenet D, Danchin A, Zaparucha A, Weissenbach J, Salanoubat M and De Berardinis V | | | | 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 | | | | The JAK2-STAT3 pathway is necessary and sufficient to induce reactivity in astrocytes | Ben Haim L, Ceyzeriat K, Sauvage M, Abjean L, Petit F, Guillermier M, Derbois C, Palomares MA, Gaillard MC, Dufour N, Aubry F, Gipstein P, Bemelmans A, Bonvento G, Dhenain M, Olaso R, Deleuze JF, Hantraye P, Brouillet E and Escartin C | Glia 65 (), E150-E150, 2017 | | | Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues | Biancalana V, Scheidecker S, Miguet M, Laquerriere A, Romero NB, Stojkovic T, Abath Neto O, Mercier S, Voermans N, Tanner L, Rogers C, Ollagnon-Roman E, Roper H, Boutte C, Ben-Shachar S, Lornage X, Vasli N, Schaefer E, Laforet P, Pouget J, Moerman A, Pasquier L, Marcorelle P, Magot A, Kusters B, Streichenberger N, Tranchant C, Dondaine N, Schneider R, Gasnier C, Calmels N, Kremer V, Nguyen K, Perrier J, Kamsteeg EJ, Carlier P, Carlier RY, Thompson J, Boland A, Deleuze JF, Fardeau M, Zanoteli E, Eymard B and Laporte J | | | | ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy | Bohm J, Bulla M, Urquhart JE, Malfatti E, Williams SG, O'Sullivan J, Szlauer A, Koch C, Baranello G, Mora M, Ripolone M, Violano R, Moggio M, Kingston H, Dawson T, DeGoede CG, Nixon J, Boland A, Deleuze JF, Romero N, Newman WG, Demaurex N and Laporte J | | | | Using spatio-temporal surveillance data to test the infectious environment of children before type 1 diabetes diagnosis | Bougneres P, Le Fur S, Valtat S, Kamatani Y, Lathrop M, Valleron AJ and Isis-Diab Collaborative G | | | | Monocyte-Derived Dendritic Cells (MDDCs) from Spondyloarthritis (SpA) Patients Exhbit a Coordinated Downregulation of the Cholesterol (chol) Biosynthesis Pathway That Relates to Lipid Overload | Breban M, Desjardin C, Chaplais E, Talpin A, Costantino F, Hue C, Jobart-Malfait A, Maury B, Grassin-Delyle S, Bonilla N, Leboime A, Nahal RS, Letourneur F, Jacques S, Boland A, Deleuze JF, Chiocchia G and Garchon HJ | | | | 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 | | | | Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes | Bruel AL, Franco B, Duffourd Y, Thevenon J, Jego L, Lopez E, Deleuze JF, Doummar D, Giles RH, Johnson CA, Huynen MA, Chevrier V, Burglen L, Morleo M, Desguerres I, Pierquin G, Doray B, Gilbert-Dussardier B, Reversade B, Steichen-Gersdorf E, Baumann C, Panigrahi I, Fargeot-Espaliat A, Dieux A, David A, Goldenberg A, Bongers E, Gaillard D, Argente J, Aral B, Gigot N, St-Onge J, Birnbaum D, Phadke SR, Cormier-Daire V, Eguether T, Pazour GJ, Herranz-Perez V, Goldstein JS, Pasquier L, Loget P, Saunier S, Megarbane A, Rosnet O, Leroux MR, Wallingford JB, Blacque OE, Nachury MV, Attie-Bitach T, Riviere JB, Faivre L and Thauvin-Robinet C | | |
|