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Laboratoire Plateformes de production en génomique humaine

Publications


Publié le 23 août 2023
  
Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders
Colin E, Duffourd Y, Chevarin M, Tisserant E, Verdez S, Paccaud J, Bruel AL, Tran Mau-Them F, Denomme-Pichon AS, Thevenon J, Safraou H, Besnard T, Goldenberg A, Cogne B, Isidor B, Delanne J, Sorlin A, Moutton S, Fradin M, Dubourg C, Gorce M, Bonneau D, El Chehadeh S, Debray FG, Doco-Fenzy M, Uguen K, Chatron N, Aral B, Marle N, Kuentz P, Boland A, Olaso R, Deleuze JF, Sanlaville D, Callier P, Philippe C, Thauvin-Robinet C, Faivre L and Vitobello A
Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease
Jiao Y, Truong T, Eon-Marchais S, Mebirouk N, Caputo SM, Dondon MG, Karimi M, Le Gal D, Beauvallet J, Le Floch E, Dandine-Roulland C, Bacq-Daian D, Olaso R, Albuisson J, Audebert-Bellanger S, Berthet P, Bonadona V, Buecher B, Caron O, Cavaille M, Chiesa J, Colas C, Collonge-Rame MA, Coupier I, Delnatte C, De Pauw A, Dreyfus H, Fert-Ferrer S, Gauthier-Villars M, Gesta P, Giraud S, Gladieff L, Golmard L, Lasset C, Lejeune-Dumoulin S, Leone M, Limacher JM, Lortholary A, Luporsi E, Mari V, Maugard CM, Mortemousque I, Mouret-Fourme E, Nambot S, Nogues C, Popovici C, Prieur F, Pujol P, Sevenet N, Sobol H, Toulas C, Uhrhammer N, Vaur D, Venat L, Boland-Auge A, Guenel P, Deleuze JF, Stoppa-Lyonnet D, Andrieu N and Lesueur F
A Case-Only Genome-Wide Interaction Study of Smoking and Bladder Cancer Risk: Results from the COBLAnCE Cohort
Karimi M, Mendez-Pineda S, Blanche H, Boland A, Besse C, Deleuze JF, Meng XY, Sirab N, Groussard K, Lebret T, Bonastre J, Allory Y, Radvanyi F, Benhamou S and Michiels S
High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders
Lecoquierre F, Quenez O, Fourneaux S, Coutant S, Vezain M, Rolain M, Drouot N, Boland A, Olaso R, Meyer V, Deleuze JF, Dabbagh D, Gilles I, Gayet C, Saugier-Veber P, Goldenberg A, Guerrot AM and Nicolas G
Multiomic analysis of malignant pleural mesothelioma identifies molecular axes and specialized tumor profiles driving intertumor heterogeneity
Mangiante L, Alcala N, Sexton-Oates A, Di Genova A, Gonzalez-Perez A, Khandekar A, Bergstrom EN, Kim J, Liu X, Blazquez-Encinas R, Giacobi C, Le Stang N, Boyault S, Cuenin C, Tabone-Eglinger S, Damiola F, Voegele C, Ardin M, Michallet MC, Soudade L, Delhomme TM, Poret A, Brevet M, Copin MC, Giusiano-Courcambeck S, Damotte D, Girard C, Hofman V, Hofman P, Mouroux J, Cohen C, Lacomme S, Mazieres J, de Montpreville VT, Perrin C, Planchard G, Rousseau N, Rouquette I, Sagan C, Scherpereel A, Thivolet F, Vignaud JM, Jean D, Ilg AGS, Olaso R, Meyer V, Boland-Auge A, Deleuze JF, Altmuller J, Nuernberg P, Ibanez-Costa A, Castano JP, Lantuejoul S, Ghantous A, Maussion C, Courtiol P, Hernandez-Vargas H, Caux C, Girard N, Lopez-Bigas N, Alexandrov LB, Galateau-Salle F, Foll M and Fernandez-Cuesta L
Co-Transplantation of Barcoded Lymphoid-Primed Multipotent (LMPP) and Common Lymphocyte (CLP) Progenitors Reveals a Major Contribution of LMPP to the Lymphoid Lineage
Michaels V, Chalabi S, Legrand A, Renard J, Tejerina E, Daouya M, Fabrega S, Megret J, Olaso R, Boland A, Deleuze JF, Battail C, Tronik-Le Roux D and Ezine S
Genome-wide association study of a semicontinuous trait: illustration of the impact of the modeling strategy through the study of Neutrophil Extracellular Traps levels
Munsch G, Proust C, Labrouche-Colomer S, Aissi D, Boland A, Morange PE, Roche A, de Chaisemartin L, Harroche A, Olaso R, Deleuze JF, James C, Emmerich J, Smadja DM, Jacqmin-Gadda H and Tregouet DA
Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting
Soilly AL, Robert-Viard C, Besse C, Bruel AL, Gerard B, Boland A, Piton A, Duffourd Y, Muller J, Poe C, Jouan T, El Doueiri S, Faivre L, Bacq-Daian D, Isidor B, Genevieve D, Odent S, Philip N, Doco-Fenzy M, Lacombe D, Asensio ML, Deleuze JF, Binquet C, Group DI, Thauvin-Robinet C and Lejeune C
A critical spotlight on the paradigms of FFPE-DNA sequencing
Steiert TA, Parra G, Gut M, Arnold N, Trotta JR, Tonda R, Moussy A, Gerber Z, Abuja PM, Zatloukal K, Rocken C, Folseraas T, Grimsrud MM, Vogel A, Goeppert B, Roessler S, Hinz S, Schafmayer C, Rosenstiel P, Deleuze JF, Gut IG, Franke A and Forster M
Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers
Sugier PE, Lucotte EA, Domenighetti C, Law MH, Iles MM, Brown K, Amos C, McKay JD, Hung RJ, Karimi M, Bacq-Daian D, Boland-Auge A, Olaso R, Deleuze JF, Lesueur F, Ostroumova E, Kesminiene A, de Vathaire F, Guenel P, consortium E, Sreelatha AAK, Schulte C, Grover S, May P, Bobbili DR, Radivojkov-Blagojevic M, Lichtner P, Singleton AB, Hernandez DG, Edsall C, Mellick GD, Zimprich A, Pirker W, Rogaeva E, Lang AE, Koks S, Taba P, Lesage S, Brice A, Corvol JC, Chartier-Harlin MC, Mutez E, Brockmann K, Deutschlander AB, Hadjigeorgiou GM, Dardiotis E, Stefanis L, Simitsi AM, Valente EM, Petrucci S, Straniero L, Zecchinelli A, Pezzoli G, Brighina L, Ferrarese C, Annesi G, Quattrone A, Gagliardi M, Matsuo H, Nakayama A, Hattori N, Nishioka K, Chung SJ, Kim YJ, Kolber P, van de Warrenburg BPC, Bloem BR, Aasly J, Toft M, Pihlstrom L, Guedes LC, Ferreira JJ, Bardien S, Carr J, Tolosa E, Ezquerra M, Pastor P, Diez-Fairen M, Wirdefeldt K, Pedersen N, Ran C, Belin AC, Puschmann A, Rodstrom EY, Clarke CE, Morrison KE, Tan M, Krainc D, Burbulla LF, Farrer MJ, Kruger R, Gasser T, Sharma M, Comprehensive Unbiased Risk Factor Assessment for G, Environment in Parkinson's Disease c, Truong T and Elbaz A
Genetic factors for differentiated thyroid cancer in French Polynesia: new candidate loci
Zidane M, Haber M, Truong T, Rachedi F, Ory C, Chevillard S, Blanche H, Olaso R, Boland A, Conte E, Karimi M, Ren Y, Xhaard C, Souchard V, Gardon J, Taquet M, Bouville A, Deleuze JF, Drozdovitch V, de Vathaire F and Cazier JB
New insights into the genetic etiology of Alzheimer's disease and related dementias
Bellenguez C, Kucukali F, Jansen IE, Kleineidam L, Moreno-Grau S, Amin N, Naj AC, Campos-Martin R, Grenier-Boley B, Andrade V, Holmans PA, Boland A, Damotte V, van der Lee SJ, Costa MR, Kuulasmaa T, Yang Q, de Rojas I, Bis JC, Yaqub A, Prokic I, Chapuis J, Ahmad S, Giedraitis V, Aarsland D, Garcia-Gonzalez P, Abdelnour C, Alarcon-Martin E, Alcolea D, Alegret M, Alvarez I, Alvarez V, Armstrong NJ, Tsolaki A, Antunez C, Appollonio I, Arcaro M, Archetti S, Pastor AA, Arosio B, Athanasiu L, Bailly H, Banaj N, Baquero M, Barral S, Beiser A, Pastor AB, Below JE, Benchek P, Benussi L, Berr C, Besse C, Bessi V, Binetti G, Bizarro A, Blesa R, Boada M, Boerwinkle E, Borroni B, Boschi S, Bossu P, Brathen G, Bressler J, Bresner C, Brodaty H, Brookes KJ, Brusco LI, Buiza-Rueda D, Burger K, Burholt V, Bush WS, Calero M, Cantwell LB, Chene G, Chung J, Cuccaro ML, Carracedo A, Cecchetti R, Cervera-Carles L, Charbonnier C, Chen HH, Chillotti C, Ciccone S, Claassen J, Clark C, Conti E, Corma-Gomez A, Costantini E, Custodero C, Daian D, Dalmasso MC, Daniele A, Dardiotis E, Dartigues JF, de Deyn PP, de Paiva Lopes K, de Witte LD, Debette S, Deckert J, Del Ser T, Denning N, DeStefano A, Dichgans M, Diehl-Schmid J, Diez-Fairen M, Rossi PD, Djurovic S, Duron E, Duzel E, Dufouil C, Eiriksdottir G, Engelborghs S, Escott-Price V, Espinosa A, Ewers M, Faber KM, Fabrizio T, Nielsen SF, Fardo DW, Farotti L, Fenoglio C, Fernandez-Fuertes M, Ferrari R, Ferreira CB, Ferri E, Fin B, Fischer P, Fladby T, Fliessbach K, Fongang B, Fornage M, Fortea J, Foroud TM, Fostinelli S, Fox NC, Franco-Macias E, Bullido MJ, Frank-Garcia A, Froelich L, Fulton-Howard B, Galimberti D, Garcia-Alberca JM, Garcia-Gonzalez P, Garcia-Madrona S, Garcia-Ribas G, Ghidoni R, Giegling I, Giorgio G, Goate AM, Goldhardt O, Gomez-Fonseca D, Gonzalez-Perez A, Graff C, Grande G, Green E, Grimmer T, Grunblatt E, Grunin M, Gudnason V, Guetta-Baranes T, Haapasalo A, Hadjigeorgiou G, Haines JL, Hamilton-Nelson KL, Hampel H, Hanon O, Hardy J, Hartmann AM, Hausner L, Harwood J, Heilmann-Heimbach S, Helisalmi S, Heneka MT, Hernandez I, Herrmann MJ, Hoffmann P, Holmes C, Holstege H, Vilas RH, Hulsman M, Humphrey J, Biessels GJ, Jian X, Johansson C, Jun GR, Kastumata Y, Kauwe J, Kehoe PG, Kilander L, Stahlbom AK, Kivipelto M, Koivisto A, Kornhuber J, Kosmidis MH, Kukull WA, Kuksa PP, Kunkle BW, Kuzma AB, Lage C, Laukka EJ, Launer L, Lauria A, Lee CY, Lehtisalo J, Lerch O, Lleo A, Longstreth W, Jr., Lopez O, de Munain AL, Love S, Lowemark M, Luckcuck L, Lunetta KL, Ma Y, Macias J, MacLeod CA, Maier W, Mangialasche F, Spallazzi M, Marquie M, Marshall R, Martin ER, Montes AM, Rodriguez CM, Masullo C, Mayeux R, Mead S, Mecocci P, Medina M, Meggy A, Mehrabian S, Mendoza S, Menendez-Gonzalez M, Mir P, Moebus S, Mol M, Molina-Porcel L, Montrreal L, Morelli L, Moreno F, Morgan K, Mosley T, Nothen MM, Muchnik C, Mukherjee S, Nacmias B, Ngandu T, Nicolas G, Nordestgaard BG, Olaso R, Orellana A, Orsini M, Ortega G, Padovani A, Paolo C, Papenberg G, Parnetti L, Pasquier F, Pastor P, Peloso G, Perez-Cordon A, Perez-Tur J, Pericard P, Peters O, Pijnenburg YAL, Pineda JA, Pinol-Ripoll G, Pisanu C, Polak T, Popp J, Posthuma D, Priller J, Puerta R, Quenez O, Quintela I, Thomassen JQ, Rabano A, Rainero I, Rajabli F, Ramakers I, Real LM, Reinders MJT, Reitz C, Reyes-Dumeyer D, Ridge P, Riedel-Heller S, Riederer P, Roberto N, Rodriguez-Rodriguez E, Rongve A, Allende IR, Rosende-Roca M, Royo JL, Rubino E, Rujescu D, Saez ME, Sakka P, Saltvedt I, Sanabria A, Sanchez-Arjona MB, Sanchez-Garcia F, Juan PS, Sanchez-Valle R, Sando SB, Sarnowski C, Satizabal CL, Scamosci M, Scarmeas N, Scarpini E, Scheltens P, Scherbaum N, Scherer M, Schmid M, Schneider A, Schott JM, Selbaek G, Seripa D, Serrano M, Sha J, Shadrin AA, Skrobot O, Slifer S, Snijders GJL, Soininen H, Solfrizzi V, Solomon A, Song Y, Sorbi S, Sotolongo-Grau O, Spalletta G, Spottke A, Squassina A, Stordal E, Tartan JP, Tarraga L, Tesi N, Thalamuthu A, Thomas T, Tosto G, Traykov L, Tremolizzo L, Tybjaerg-Hansen A, Uitterlinden A, Ullgren A, Ulstein I, Valero S, Valladares O, Broeckhoven CV, Vance J, Vardarajan BN, van der Lugt A, Dongen JV, van Rooij J, van Swieten J, Vandenberghe R, Verhey F, Vidal JS, Vogelgsang J, Vyhnalek M, Wagner M, Wallon D, Wang LS, Wang R, Weinhold L, Wiltfang J, Windle G, Woods B, Yannakoulia M, Zare H, Zhao Y, Zhang X, Zhu C, Zulaica M, Eadb, Gr@Ace, Degesco, Eadi, Gerad, Demgene, FinnGen, Adgc, Charge, Farrer LA, Psaty BM, Ghanbari M, Raj T, Sachdev P, Mather K, Jessen F, Ikram MA, de Mendonca A, Hort J, Tsolaki M, Pericak-Vance MA, Amouyel P, Williams J, Frikke-Schmidt R, Clarimon J, Deleuze JF, Rossi G, Seshadri S, Andreassen OA, Ingelsson M, Hiltunen M, Sleegers K, Schellenberg GD, van Duijn CM, Sims R, van der Flier WM, Ruiz A, Ramirez A and Lambert JC
Temporal Gene Expression Profiles Reflect the Dynamics of Lymphoid Differentiation
Chalabi S, Legrand A, Michaels V, Palomares MA, Olaso R, Boland A, Deleuze JF, Ezine S, Battail C and Tronik-Le Roux D
Typical clinical diagnosis and negative first-line molecular results: when genome sequencing and transcriptomics integration helps untangle unexplained rare Mendelian diseases
Colin E, Duffourd Y, Callier P, Tisserant E, Besnard T, Goldenberg A, Cogne B, Isidor B, Sorlin A, Moutton S, Delanne J, Bruel AL, Mau-Them FT, Denomme-Pichon AS, Fradin M, Dubourg C, Gorce M, El Chehadeh S, Debray FG, Fenzy MD, Uguen K, Boland A, Olaso R, Deleuze JF, Sanlaville D, Philippe C, Thauvin-Robinet C, Faivre L and Vitobello A
European Journal of Human Genetics 30 (Suppl 1), 356-357, 2022
OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants
Colin E, Duffourd Y, Tisserant E, Relator R, Bruel AL, Tran Mau-Them F, Denomme-Pichon AS, Safraou H, Delanne J, Jean-Marcais N, Keren B, Isidor B, Vincent M, Mignot C, Heron D, Afenjar A, Heide S, Faudet A, Charles P, Odent S, Herenger Y, Sorlin A, Moutton S, Kerkhof J, McConkey H, Chevarin M, Poe C, Couturier V, Bourgeois V, Callier P, Boland A, Olaso R, Philippe C, Sadikovic B, Thauvin-Robinet C, Faivre L, Deleuze JF and Vitobello A
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients
Coursimault J, Cassinari K, Lecoquierre F, Quenez O, Coutant S, Derambure C, Vezain M, Drouot N, Vera G, Schaefer E, Philippe A, Doray B, Lambert L, Ghoumid J, Smol T, Rama M, Legendre M, Lacombe D, Maurin PF, Olaso R, Boland A, Deleuze JF, Goldenberg A, Saugier-Veber P and Nicolas G
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
Coursimault J, Guerrot AM, Morrow MM, Schramm C, Zamora FM, Shanmugham A, Liu S, Zou F, Bilan F, Le Guyader G, Bruel AL, Denomme-Pichon AS, Faivre L, Tran Mau-Them F, Tessarech M, Colin E, El Chehadeh S, Gerard B, Schaefer E, Cogne B, Isidor B, Nizon M, Doummar D, Valence S, Heron D, Keren B, Mignot C, Coutton C, Devillard F, Alaix AS, Amiel J, Colleaux L, Munnich A, Poirier K, Rio M, Rondeau S, Barcia G, Callewaert B, Dheedene A, Kumps C, Vergult S, Menten B, Chung WK, Hernan R, Larson A, Nori K, Stewart S, Wheless J, Kresge C, Pletcher BA, Caumes R, Smol T, Sigaudy S, Coubes C, Helm M, Smith R, Morrison J, Wheeler PG, Kritzer A, Jouret G, Afenjar A, Deleuze JF, Olaso R, Boland A, Poitou C, Frebourg T, Houdayer C, Saugier-Veber P, Nicolas G and Lecoquierre F
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network
Denomme-Pichon AS, Vitobello A, Olaso R, Ziegler A, Jeanne M, Tran Mau-Them F, Couturier V, Racine C, Isidor B, Poe C, Jouan T, Boland A, Fin B, Bacq-Daian D, Besse C, Garde A, Prost A, Garret P, Tisserant E, Delanne J, Nambot S, Juven A, Gorce M, Nizon M, Vincent M, Moutton S, Fradin M, Lavillaureix A, Rollier P, Capri Y, Van-Gils J, Busa T, Sigaudy S, Pasquier L, Barth M, Bruel AL, Flamant C, Prouteau C, Bonneau D, Toutain A, Chantegret C, Callier P, Philippe C, Duffourd Y, Deleuze JF, Sorlin A, Faivre L and Thauvin-Robinet C
Genetic analysis of lung cancer and the germline impact on somatic mutation burden
Gabriel AAG, Atkins JR, Penha RCC, Smith-Byrne K, Gaborieau V, Voegele C, Abedi-Ardekani B, Milojevic M, Olaso R, Meyer V, Boland A, Deleuze JF, Zaridze D, Mukeriya A, Swiatkowska B, Janout V, Schejbalova M, Mates D, Stojsic J, Ognjanovic M, consortium I, Witte JS, Rashkin SR, Kachuri L, Hung RJ, Kar S, Brennan P, Sertier AS, Ferrari A, Viari A, Johansson M, Amos CI, Foll M and McKay JD
A comparison of high-throughput SARS-CoV-2 sequencing methods from nasopharyngeal samples
Gerber Z, Daviaud C, Delafoy D, Sandron F, Alidjinou EK, Mercier J, Gerber S, Meyer V, Boland A, Bocket L, Olaso R and Deleuze JF
Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia
Ghaleb Y, Elbitar S, Philippi A, El Khoury P, Azar Y, Andrianirina M, Loste A, Abou-Khalil Y, Nicolas G, Le Borgne M, Moulin P, Di-Filippo M, Charriere S, Farnier M, Yelnick C, Carreau V, Ferrieres J, Lecerf JM, Derksen A, Bernard G, Gauthier MS, Coulombe B, Lutjohann D, Fin B, Boland A, Olaso R, Deleuze JF, Rabes JP, Boileau C, Abifadel M and Varret M
MOOC on Bioinformatics in Genomic Medicine (BiG MOOC)
Gouy E, Yauy K, Denomme-Pichon AS, Genin E, Lecoquierre F, Lermine A, Olaso R, Deleuze JF, Schutz S, de Tayrac M, Trimouille A, Collet G, Desplas X, Hobart F, Chotia A, Urbanczyk A, Palombi O, Pujol P, Genevieve D, Faivre L, Sanlaville D, Duffourd Y, Green A, Kenny J, Lynch SA, Wedderburn S, Carley H, Hugon A, Selatnia S, Vyshka K, Thevenon J, Verloes A and Comm E-IE
European Journal of Human Genetics 30 (Suppl 1), 567-567, 2022
Association of Rare APOE Missense Variants V236E and R251G With Risk of Alzheimer Disease
Le Guen Y, Belloy ME, Grenier-Boley B, de Rojas I, Castillo-Morales A, Jansen I, Nicolas A, Bellenguez C, Dalmasso C, Kucukali F, Eger SJ, Rasmussen KL, Thomassen JQ, Deleuze JF, He Z, Napolioni V, Amouyel P, Jessen F, Kehoe PG, van Duijn C, Tsolaki M, Sanchez-Juan P, Sleegers K, Ingelsson M, Rossi G, Hiltunen M, Sims R, van der Flier WM, Ramirez A, Andreassen OA, Frikke-Schmidt R, Williams J, Ruiz A, Lambert JC, Greicius MD, Members of the Eadb GRACEDDG, Groups E, Arosio B, Benussi L, Boland A, Borroni B, Caffarra P, Daian D, Daniele A, Debette S, Dufouil C, Duzel E, Galimberti D, Giedraitis V, Grimmer T, Graff C, Grunblatt E, Hanon O, Hausner L, Heilmann-Heimbach S, Holstege H, Hort J, Jurgen D, Kuulasmaa T, van der Lugt A, Masullo C, Mecocci P, Mehrabian S, de Mendonca A, Moebus S, Nacmias B, Nicolas G, Olaso R, Papenberg G, Parnetti L, Pasquier F, Peters O, Pijnenburg YAL, Popp J, Rainero I, Ramakers I, Riedel-Heller S, Scarmeas N, Scheltens P, Scherbaum N, Schneider A, Seripa D, Soininen H, Solfrizzi V, Spalletta G, Squassina A, van Swieten J, Tegos TJ, Tremolizzo L, Verhey F, Vyhnalek M, Wiltfang J, Boada M, Garcia-Gonzalez P, Puerta R, Real LM, Alvarez V, Bullido MJ, Clarimon J, Garcia-Alberca JM, Mir P, Moreno F, Pastor P, Pinol-Ripoll G, Molina-Porcel L, Perez-Tur J, Rodriguez-Rodriguez E, Royo JL, Sanchez-Valle R, Dichgans M and Rujescu D
Distinct functional classes of PDGFRB pathogenic variants in primary familial brain calcification
Lenglez S, Sablon A, Fenelon G, Boland A, Deleuze JF, Boutoleau-Bretonniere C, Nicolas G and Demoulin JB
Experimental evolution links post-transcriptional regulation to Leishmania fitness gain
Piel L, Rajan KS, Bussotti G, Varet H, Legendre R, Proux C, Douche T, Giai-Gianetto Q, Chaze T, Cokelaer T, Vojtkova B, Gordon-Bar N, Doniger T, Cohen-Chalamish S, Rengaraj P, Besse C, Boland A, Sadlova J, Deleuze JF, Matondo M, Unger R, Volf P, Michaeli S, Pescher P and Spath GF
Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes
Schramm C, Charbonnier C, Zarea A, Lacour M, Wallon D, collaborators C, Boland A, Deleuze JF, Olaso R, consortium A, Alarcon F, Campion D, Nuel G and Nicolas G
Publisher Correction: Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes
Schramm C, Charbonnier C, Zarea A, Lacour M, Wallon D, collaborators C, Boland A, Deleuze JF, Olaso R, consortium A, Alarcon F, Campion D, Nuel G and Nicolas G
Doublecortin mutation leads to persistent defects in the Golgi apparatus and mitochondria in adult hippocampal pyramidal cells
Stouffer MA, Khalaf-Nazzal R, Cifuentes-Diaz C, Albertini G, Bandet E, Grannec G, Lavilla V, Deleuze JF, Olaso R, Nosten-Bertrand M and Francis F
Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors
Thibord F, Klarin D, Brody JA, Chen MH, Levin MG, Chasman DI, Goode EL, Hveem K, Teder-Laving M, Martinez-Perez A, Aissi D, Daian-Bacq D, Ito K, Natarajan P, Lutsey PL, Nadkarni GN, de Vries PS, Cuellar-Partida G, Wolford BN, Pattee JW, Kooperberg C, Braekkan SK, Li-Gao R, Saut N, Sept C, Germain M, Judy RL, Wiggins KL, Ko D, O'Donnell CJ, Taylor KD, Giulianini F, De Andrade M, Nost TH, Boland A, Empana JP, Koyama S, Gilliland T, Do R, Huffman JE, Wang X, Zhou W, Manuel Soria J, Carlos Souto J, Pankratz N, Haessler J, Hindberg K, Rosendaal FR, Turman C, Olaso R, Kember RL, Bartz TM, Lynch JA, Heckbert SR, Armasu SM, Brumpton B, Smadja DM, Jouven X, Komuro I, Clapham KR, Loos RJF, Willer CJ, Sabater-Lleal M, Pankow JS, Reiner AP, Morelli VM, Ridker PM, Vlieg AVH, Deleuze JF, Kraft P, Rader DJ, Global Biobank Meta-Analysis I, Estonian Biobank Research T, andMe Research T, Biobank J, Group CHW, Min Lee K, Psaty BM, Heidi Skogholt A, Emmerich J, Suchon P, Rich SS, Vy HMT, Tang W, Jackson RD, Hansen JB, Morange PE, Kabrhel C, Tregouet DA, Damrauer SM, Johnson AD and Smith NL
Circulation 146 (16), 1225-1242, 2022
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
Correction to: 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
Genomic insights into population history and biological adaptation in Oceania
Choin J, Mendoza-Revilla J, Arauna LR, Cuadros-Espinoza S, Cassar O, Larena M, Ko AMS, Harmant C, Laurent R, Verdu P, Laval G, Boland A, Olaso R, Deleuze JF, Valentin F, Ko YC, Jakobsson M, Gessain A, Excoffier L, Stoneking M, Patin E and Quintana-Murci L
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
Coursimault J, Guerrot AM, Morrow MM, Schramm C, Zamora FM, Shanmugham A, Liu S, Zou F, Bilan F, Le Guyader G, Bruel AL, Denomme-Pichon AS, Faivre L, Tran Mau-Them F, Tessarech M, Colin E, El Chehadeh S, Gerard B, Schaefer E, Cogne B, Isidor B, Nizon M, Doummar D, Valence S, Heron D, Keren B, Mignot C, Coutton C, Devillard F, Alaix AS, Amiel J, Colleaux L, Munnich A, Poirier K, Rio M, Rondeau S, Barcia G, Callewaert B, Dheedene A, Kumps C, Vergult S, Menten B, Chung WK, Hernan R, Larson A, Nori K, Stewart S, Wheless J, Kresge C, Pletcher BA, Caumes R, Smol T, Sigaudy S, Coubes C, Helm M, Smith R, Morrison J, Wheeler PG, Kritzer A, Jouret G, Afenjar A, Deleuze JF, Olaso R, Boland A, Poitou C, Frebourg T, Houdayer C, Saugier-Veber P, Nicolas G and Lecoquierre F
Identification of biological pathways specific to phases preceding rheumatoid arthritis development through gene expression profiling
Dalmasso C, Derbois C, Veyssiere M, Olaso R, Lamacchia C, Alpizar-Rodriguez D, Deleuze JF, Finckh A and Petit-Teixeira E
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network
Denomme-Pichon AS, Vitobello A, Olaso R, Ziegler A, Jeanne M, Tran Mau-Them F, Couturier V, Racine C, Isidor B, Poe C, Jouan T, Boland A, Fin B, Bacq-Daian D, Besse C, Garde A, Prost A, Garret P, Tisserant E, Delanne J, Nambot S, Juven A, Gorce M, Nizon M, Vincent M, Moutton S, Fradin M, Lavillaureix A, Rollier P, Capri Y, Van-Gils J, Busa T, Sigaudy S, Pasquier L, Barth M, Bruel AL, Flamant C, Prouteau C, Bonneau D, Toutain A, Chantegret C, Callier P, Philippe C, Duffourd Y, Deleuze JF, Sorlin A, Faivre L and Thauvin-Robinet C
Genetics and Cognitive Vulnerability to Sleep Deprivation in Healthy Subjects: Interaction of ADORA2A, TNF-alpha and COMT Polymorphisms
Erblang M, Drogou C, Gomez-Merino D, Rabat A, Guillard M, Beers PV, Quiquempoix M, Boland A, Deleuze JF, Olaso R, Derbois C, Prost M, Dorey R, Leger D, Thomas C, Chennaoui M and Sauvet F
Gender specific airway gene expression in COPD sub-phenotypes supports a role of mitochondria and of different types of leukocytes
Esteve-Codina A, Hofer TP, Burggraf D, Heiss-Neumann MS, Gesierich W, Boland A, Olaso R, Bihoreau MT, Deleuze JF, Moeller W, Schmid O, Soler Artigas M, Renner K, Hohlfeld JM, Welte T, Fuehner T, Jerrentrup L, Koczulla AR, Greulich T, Prasse A, Muller-Quernheim J, Gupta S, Brightling C, Subramanian DR, Parr DG, Kolsum U, Gupta V, Barta I, Dome B, Strausz J, Stendardo M, Piattella M, Boschetto P, Korzybski D, Gorecka D, Nowinski A, Dabad M, Fernandez-Callejo M, Endesfelder D, Zu Castell W, Hiemstra PS, Venge P, Noessner E, Griebel T, Heath S, Singh D, Gut I and Ziegler-Heitbrock L
Heterogeneity of SARS-CoV-2 virus produced in cell culture revealed by shotgun proteomics and supported by genome sequencing
Gallais F, Pible O, Gaillard JC, Debroas S, Batina H, Ruat S, Sandron F, Delafoy D, Gerber Z, Olaso R, Gas F, Bellanger L, Deleuze JF, Grenga L and Armengaud J
Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23
Garnier S, Harakalova M, Weiss S, Mokry M, Regitz-Zagrosek V, Hengstenberg C, Cappola TP, Isnard R, Arbustini E, Cook SA, van Setten J, Calis JJA, Hakonarson H, Morley MP, Stark K, Prasad SK, Li J, O'Regan DP, Grasso M, Muller-Nurasyid M, Meitinger T, Empana JP, Strauch K, Waldenberger M, Marguiles KB, Seidman CE, Kararigas G, Meder B, Haas J, Boutouyrie P, Lacolley P, Jouven X, Erdmann J, Blankenberg S, Wichter T, Ruppert V, Tavazzi L, Dubourg O, Roizes G, Dorent R, de Groote P, Fauchier L, Trochu JN, Aupetit JF, Bilinska ZT, Germain M, Volker U, Hemerich D, Raji I, Bacq-Daian D, Proust C, Remior P, Gomez-Bueno M, Lehnert K, Maas R, Olaso R, Saripella GV, Felix SB, McGinn S, Duboscq-Bidot L, van Mil A, Besse C, Fontaine V, Blanche H, Ader F, Keating B, Curjol A, Boland A, Komajda M, Cambien F, Deleuze JF, Dorr M, Asselbergs FW, Villard E, Tregouet DA and Charron P
Association between ABO haplotypes and the risk of venous thrombosis: impact on disease risk estimation
Goumidi L, Thibord F, Wiggins KL, Li-Gao R, Brown MR, van Hylckama Vlieg A, Souto JC, Soria JM, Ibrahim-Kosta M, Saut N, Daian D, Olaso R, Amouyel P, Debette S, Boland A, Bailly P, Morrison AC, Mook-Kanamori DO, Deleuze JF, Johnson A, de Vries PS, Sabater-Lleal M, Chiaroni J, Smith NL, Rosendaal FR, Chasman DI, Tregouet DA and Morange PE
Fine-mapping of two differentiated thyroid carcinoma susceptibility loci at 2q35 and 8p12 in Europeans, Melanesians and Polynesians
Guibon J, Sugier PE, Kulkarni O, Karimi M, Bacq-Daian D, Besse C, Boland A, Adjadj E, Rachedi F, Rubino C, Xhaard C, Mulot C, Laurent-Puig P, Guizard AV, Schvartz C, Ortiz RM, Ren Y, Ostroumova E, Deleuze JF, Boutron-Ruault MC, Kesminiene A, Vathaire F, Guenel P, Lesueur F and Truong T
Evaluation of saliva as a source of accurate whole-genome and microbiome sequencing data
Herzig AF, Velo-Suarez L, Le Folgoc G, Boland A, Blanche H, Olaso R, Le Roux L, Delmas C, Goldberg M, Zins M, Lethimonnier F, Deleuze JF and Genin E
Molecular profiling of advanced soft-tissue sarcomas: the MULTISARC randomized trial
Italiano A, Dinart D, Soubeyran I, Bellera C, Esperou H, Delmas C, Mercier N, Albert S, Poignie L, Boland A, Bourdon A, Geneste D, Cavaille Q, Laizet Y, Khalifa E, Auzanneau C, Squiban B, Truffaux N, Olaso R, Gerber Z, Wallet C, Benard A, Blay JY, Laurent-Puig P, Deleuze JF, Lucchesi C, Mathoulin-Pelissier S and group Ms
Gene network and biological pathways associated with susceptibility to differentiated thyroid carcinoma
Kulkarni O, Sugier PE, Guibon J, Boland-Auge A, Lonjou C, Bacq-Daian D, Olaso R, Rubino C, Souchard V, Rachedi F, Lence-Anta JJ, Ortiz RM, Xhaard C, Laurent-Puig P, Mulot C, Guizard AV, Schvartz C, Boutron-Ruault MC, Ostroumova E, Kesminiene A, Deleuze JF, Guenel P, De Vathaire F, Truong T and Lesueur F
Sexual Dimorphism in Cancer: Insights from Transcriptional Signatures in Kidney Tissue and Renal Cell Carcinoma
Laskar RS, Li P, Ecsedi S, Abedi-Ardekani B, Durand G, Robinot N, Hubert JN, Janout V, Zaridze D, Mukeria A, Mates D, Holcatova I, Foretova L, Swiatkowska B, Dzamic Z, Milosavljevic S, Olaso R, Boland A, Deleuze JF, Muller DC, McKay JD, Brennan P, Le Calvez-Kelm F, Scelo G and Chanudet E
DNAJC3 deficiency induces beta-cell mitochondrial apoptosis and causes syndromic young-onset diabetes
Lytrivi M, Senee V, Salpea P, Fantuzzi F, Philippi A, Abdulkarim B, Sawatani T, Marin-Canas S, Pachera N, Degavre A, Singh P, Derbois C, Lechner D, Ladriere L, Igoillo-Esteve M, Cosentino C, Marselli L, Deleuze JF, Marchetti P, Eizirik DL, Nicolino M, Chaussenot A, Julier C and Cnop M
Mutations and variants of ONECUT1 in diabetes
Philippi A, Heller S, Costa IG, Senee V, Breunig M, Li Z, Kwon G, Russell R, Illing A, Lin Q, Hohwieler M, Degavre A, Zalloua P, Liebau S, Schuster M, Krumm J, Zhang X, Geusz R, Benthuysen JR, Wang A, Chiou J, Gaulton K, Neubauer H, Simon E, Klein T, Wagner M, Nair G, Besse C, Dandine-Roulland C, Olaso R, Deleuze JF, Kuster B, Hebrok M, Seufferlein T, Sander M, Boehm BO, Oswald F, Nicolino M, Julier C and Kleger A
An artificial neural network approach integrating plasma proteomics and genetic data identifies PLXNA4 as a new susceptibility locus for pulmonary embolism
Razzaq M, Iglesias MJ, Ibrahim-Kosta M, Goumidi L, Soukarieh O, Proust C, Roux M, Suchon P, Boland A, Daiain D, Olaso R, Havervall S, Thalin C, Butler L, Deleuze JF, Odeberg J, Morange PE and Tregouet DA
Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element
Cassinari K, Rovelet-Lecrux A, Tury S, Quenez O, Richard AC, Charbonnier C, Olaso R, Boland A, Deleuze JF, Besancenot JF, Delpont B, Pouliquen D, Lecoquierre F, Chambon P, Thauvin-Robinet C, Campion D, Frebourg T, Battini JL and Nicolas G
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability
Chevarin M, Duffourd Y, R AB, Moutton S, Lecoquierre F, Daoud F, Kuentz P, Cabret C, Thevenon J, Gautier E, Callier P, St-Onge J, Jouan T, Lacombe D, Delrue MA, Goizet C, Morice-Picard F, Van-Gils J, Munnich A, Lyonnet S, Cormier-Daire V, Baujat G, Holder M, Petit F, Leheup B, Odent S, Jouk PS, Lopez G, Genevieve D, Collignon P, Martin-Coignard D, Jacquette A, Perrin L, Putoux A, Sarrazin E, Amarof K, Missotte I, Coubes C, Jagadeesh S, Lapi E, Demurger F, Goldenberg A, Doco-Fenzy M, Mignot C, Heron D, Jean-Marcais N, Masurel A, El Chehadeh S, Marle N, Huet F, Binquet C, Collod-Beroud G, Arnaud P, Hanna N, Boileau C, Jondeau G, Olaso R, Lechner D, Poe C, Assoum M, Carmignac V, Duplomb L, Tran Mau-Them F, Philippe C, Vitobello A, Bruel AL, Boland A, Deleuze JF, Thauvin-Robinet C, Riviere JB, O'Roak BJ and Faivre L
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use
Husson T, Lecoquierre F, Cassinari K, Charbonnier C, Quenez O, Goldenberg A, Guerrot AM, Richard AC, Drouin-Garraud V, Brehin AC, Soleimani M, Taton R, Rotharmel M, Rosier A, Chambon P, Le Meur N, Joly-Helas G, Saugier-Veber P, Boland A, Deleuze JF, Olaso R, Frebourg T, Nicolas G, Guillin O and Campion D
A novel rare c.-39C > T mutation in the PROS1 5 ' UTR causing PS deficiency by creating a new upstream translation initiation codone
Labrouche-Colomer S, Soukarieh O, Proust C, Mouton C, Huguenin Y, Roux M, Besse C, Boland A, Olaso R, Constans J, Deleuze JF, Morange PE, Jaspard-Vinassa B, Tregouet DA and GenMed C
Prediction of Breast Cancer Treatment-Induced Fatigue by Machine Learning Using Genome-Wide Association Data
Lee S, Deasy JO, Oh JH, Di Meglio A, Dumas A, Menvielle G, Charles C, Boyault S, Rousseau M, Besse C, Thomas E, Boland A, Cottu P, Tredan O, Levy C, Martin AL, Everhard S, Ganz PA, Partridge AH, Michiels S, Deleuze JF, Andre F and Vaz-Luis I
Papuan mitochondrial genomes and the settlement of Sahul
Pedro N, Brucato N, Fernandes V, Andre M, Saag L, Pomat W, Besse C, Boland A, Deleuze JF, Clarkson C, Sudoyo H, Metspalu M, Stoneking M, Cox MP, Leavesley M, Pereira L and Ricaut FX
POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4
Sanchez E, Laplace-Builhe B, Mau-Them FT, Richard E, Goldenberg A, Toler TL, Guignard T, Gatinois V, Vincent M, Blanchet C, Boland A, Bihoreau MT, Deleuze JF, Olaso R, Nephi W, Ludecke HJ, Verheij J, Moreau-Lenoir F, Denoyelle F, Riviere JB, Laplanche JL, Willing M, Captier G, Apparailly F, Wieczorek D, Collet C, Djouad F and Genevieve D
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing
Uggenti C, Lepelley A, Depp M, Badrock AP, Rodero MP, El-Daher MT, Rice GI, Dhir S, Wheeler AP, Dhir A, Albawardi W, Fremond ML, Seabra L, Doig J, Blair N, Martin-Niclos MJ, Della Mina E, Rubio-Roldan A, Garcia-Perez JL, Sproul D, Rehwinkel J, Hertzog J, Boland-Auge A, Olaso R, Deleuze JF, Baruteau J, Brochard K, Buckley J, Cavallera V, Cereda C, De Waele LMH, Dobbie A, Doummar D, Elmslie F, Koch-Hogrebe M, Kumar R, Lamb K, Livingston JH, Majumdar A, Lorenco CM, Orcesi S, Peudenier S, Rostasy K, Salmon CA, Scott C, Tonduti D, Touati G, Valente M, van der Linden H, Jr., Van Esch H, Vermelle M, Webb K, Jackson AP, Reijns MAM, Gilbert N and Crow YJ
Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization
Uguen K, Jubin C, Duffourd Y, Bardel C, Malan V, Dupont JM, El Khattabi L, Chatron N, Vitobello A, Rollat-Farnier PA, Baulard C, Lelorch M, Leduc A, Tisserant E, Mau-Them FT, Danjean V, Delepine M, Till M, Meyer V, Lyonnet S, Mosca-Boidron AL, Thevenon J, Faivre L, Thauvin-Robinet C, Schluth-Bolard C, Boland A, Olaso R, Callier P, Romana S, Deleuze JF and Sanlaville D
Circadian genes polymorphisms, night work and prostate cancer risk: findings from the EPICAP study
Wendeu-Foyet MG, Cenee S, Koudou Y, Tretarre B, Rebillard X, Cancel-Tassin G, Cussenot O, Boland A, Olaso R, Deleuze JF, Blanche H, Lamy PJ, Mulot C, Laurent-Puig P, Truong T and Menegaux F
Investigation of candidate gene copy number identifies FCGR3B as a potential biomarker for rheumatoid arthritis
Ben Kilani MS, Cornelis F, Olaso R, Chaudru V and Petit-Teixeira E
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
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
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
Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group
Lemattre C, Imbert-Bouteille M, Gatinois V, Benit P, Sanchez E, Guignard T, Tran Mau-Them F, Haquet E, Rivier F, Carme E, Roubertie A, Boland A, Lechner D, Meyer V, Thevenon J, Duffourd Y, Riviere JB, Deleuze JF, Wells C, Molinari F, Rustin P, Blanchet P and Genevieve D
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
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
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
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
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
"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
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
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
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
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
Assessment of the prognostic role of a 94-single nucleotide polymorphisms risk score in early breast cancer in the SIGNAL/PHARE prospective cohort: no correlation with clinico-pathological characteristics and outcomes
Curtit E, Pivot X, Henriques J, Paget-Bailly S, Fumoleau P, Rios M, Bonnefoi H, Bachelot T, Soulie P, Jouannaud C, Bourgeois H, Petit T, Tennevet I, Assouline D, Mathieu MC, Jacquin JP, Lavau-Denes S, Darut-Jouve A, Ferrero JM, Tarpin C, Levy C, Delecroix V, Trillet-Lenoir V, Cojocarasu O, Meunier J, Pierga JY, Kerbrat P, Faure-Mercier C, Blanche H, Sahbatou M, Boland A, Bacq D, Besse C, Thomas G, Deleuze JF, Pauporte I, Romieu G and Cox DG
dUTPase (DUT) Is Mutated in a Novel Monogenic Syndrome With Diabetes and Bone Marrow Failure
Dos Santos RS, Daures M, Philippi A, Romero S, Marselli L, Marchetti P, Senee V, Bacq D, Besse C, Baz B, Marroqui L, Ivanoff S, Masliah-Planchon J, Nicolino M, Soulier J, Socie G, Eizirik DL, Gautier JF and Julier C
Genome-Wide Methylation Analysis Identifies Specific Epigenetic Marks In Severely Obese Children
Fradin D, Boelle PY, Belot MP, Lachaux F, Tost J, Besse C, Deleuze JF, De Filippo G and Bougneres P
Fluorescent nanodiamond tracking reveals intraneuronal transport abnormalities induced by brain-disease-related genetic risk factors
Haziza S, Mohan N, Loe-Mie Y, Lepagnol-Bestel AM, Massou S, Adam MP, Le XL, Viard J, Plancon C, Daudin R, Koebel P, Dorard E, Rose C, Hsieh FJ, Wu CC, Potier B, Herault Y, Sala C, Corvin A, Allinquant B, Chang HC, Treussart F and Simonneau M
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
Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma
Machiela MJ, Jonathan NHA, Carreras-Torres R, Brown KM, Johansson M, Wang ZM, Foll M, Li P, Rothman N, Savage SA, Gaborieau V, McKay JD, Ye YQ, 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 H, 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 HB, 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, Houlstonmmm RS, Brennan P, Chanock SJ, Scelo G and Purdue MP
A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus
Mobuchon L, Battistella A, Bardel C, Scelo G, Renoud A, Houy A, Cassoux N, Milder M, Cancel-Tassin G, Cussenot O, Delattre O, Besse C, Boland A, Deleuze JF, Cox DG and Stern MH
Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation
Neto OA, Heise CO, Moreno CDM, Estephan ED, Mesrob L, Lechner D, Boland A, Deleuze JF, Oliveira ASB, Reed UC, Biancalana V, Laporte J and Zanoteli E
Constitutional variants are not associated with HER2-positive breast cancer: results from the SIGNAL/PHARE clinical cohort
Pivot X, Romieu G, Fumoleau P, Rios M, Bonnefoi H, Bachelot T, Soulie P, Jouannaud C, Bourgeois H, Petit T, Tennevet I, Assouline D, Mathieu MC, Jacquin JP, Lavau-Denes S, Darut-Jouve A, Ferrero JM, Tarpin C, Levy C, Delecroix V, Trillet-Lenoir V, Cojocarasu O, Meunier J, Pierga JY, Agostini C, Kerbrat P, Faure-Mercier C, Blanche H, Sahbatou M, Boland A, Bacq D, Besse C, Calvo F, Renaud A, Deleuze JF, Pauporte I, Thomas G and Cox DG
Genome-wide association study identifies multiple risk loci for renal cell carcinoma
Scelo G, Purdue MP, Brown KM, Johansson M, Wang ZM, Eckel-Passow JE, Ye YQ, Hofmann JN, Choi J, Foll M, Gaborieau V, Machiela MJ, Colli LM, Li P, Sampson JN, Abedi-Ardekani B, Besse C, Blanche H, Boland A, Burdette L, Chabrier A, Durand G, Le Calvez-Kelm F, Prokhortchouk E, Robinot N, Skryabin KG, Wozniak MB, Yeager M, Basta-Jovanovic G, Dzamic Z, 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, Baglietto L, Boeing H, Khaw KT, Weiderpass E, Ljungberg B, Sitaram RT, Bruinsma F, Jordan SJ, Severi G, Winship I, 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 TL, Lipworth L, Gapstur SM, Stevens VL, Carol H, Freedman ML, Pomerantz MM, Cho EY, Kraft P, Preston MA, Wilson KM, Gaziano JM, Sesso HD, Black A, Freedman ND, Huang WY, Anema JG, 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, Wood C, Eisen T, Henrion M, Larkin J, Barman P, Leibovich BC, Choueiri TK, Lathrop GM, Rothman N, Deleuze JF, McKay JD, Parker AS, Wu XF, Houlston RS, Brennan P and Chanock SJ
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea
Bauche S, O'Regan S, Azuma Y, Laffargue F, McMacken G, Sternberg D, Brochier G, Buon C, Bouzidi N, Topf A, Lacene E, Remerand G, Beaufrere AM, Pebrel-Richard C, Thevenon J, El Chehadeh-Djebbar S, Faivre L, Duffourd Y, Ricci F, Mongini T, Fiorillo C, Astrea G, Burloiu CM, Butoianu N, Sandu C, Servais L, Bonne G, Nelson I, Desguerre I, Nougues MC, Boeuf B, Romero N, Laporte J, Boland A, Lechner D, Deleuze JF, Fontaine B, Strochlic L, Lochmuller H, Eymard B, Mayer M and Nicole S
GWAS in the SIGNAL/PHARE clinical cohort restricts the association between the FGFR2 locus and estrogen receptor status to HER2-negative breast cancer patients
Cox DG, Curtit E, Romieu G, Fumoleau P, Rios M, Bonnefoi H, Bachelot T, Soulie P, Jouannaud C, Bourgeois H, Petit T, Tennevet I, Assouline D, Mathieu MC, Jacquin JP, Lavau-Denes S, Darut-Jouve A, Ferrero JM, Tarpin C, Levy C, Delecroix V, Trillet-Lenoir V, Cojocarasu O, Meunier J, Pierga JY, Faure-Mercier C, Blanche H, Sahbatou M, Boland A, Bacq D, Besse C, Deleuze JF, Pauporte I, Thomas G and Pivot X
EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome
Gargaun E, Seferian AM, Cardas R, Le Moing AG, Delanoe C, Nectoux J, Nelson I, Bonne G, Bihoreau MT, Deleuze JF, Boland A, Masson C, Servais L and Gidaro T
Major Loci on Chromosomes 8q and 3q Control Interferon gamma Production Triggered by Bacillus Calmette-Guerin and 6-kDa Early Secretory Antigen Target, Respectively, in Various Populations
Jabot-Hanin F, Cobat A, Feinberg J, Grange G, Remus N, Poirier C, Boland-Auge A, Besse C, Bustamante J, Boisson-Dupuis S, Casanova JL, Schurr E, Alcais A, Hoal EG, Delacourt C and Abel L
Analysis with the exome array identifies multiple new independent variants in lipid loci
Kanoni S, Masca NGD, Stirrups KE, Varga TV, Warren HR, Scott RA, Southam L, Zhang WH, Yaghootkar H, Muller-Nurasyid M, Alves AC, Strawbridge RJ, Lataniotis L, Hashim NA, Besse C, Boland A, Braund PS, Connell JM, Dominiczak A, Farmaki AE, Franks S, Grallert H, Jansson JH, Karaleftheri M, Keinanen-Kiukaanniemi S, Matchan A, Pasko D, Peters A, Poulter N, Rayner NW, Renstrom F, Rolandsson O, Sabater-Lleal M, Sennblad B, Sever P, Shields D, Silveira A, Stanton AV, Strauch K, Tomaszewski M, Tsafantakis E, Waldenberger M, Blakemore AIF, Dedoussis G, Escher SA, Kooner JS, McCarthy MI, Palmer CNA, Hamsten A, Caulfield MJ, Frayling TM, Tobin MD, Jarvelin MR, Zeggini E, Gieger C, Chambers JC, Wareham NJ, Munroe PB, Franks PW, Samani NJ, Deloukas P and Wellcome Trust Case Control C
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
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
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
Aristolochic acid exposure in Romania and implications for renal cell carcinoma
Turesky RJ, Yun BH, Brennan P, Mates D, Jinga V, Harnden P, Banks RE, Blanche H, Bihoreau MT, Chopard P, Letourneau L, Lathrop GM and Scelo G
The SAM domain of ANKS6 has different interacting partners and mutations can induce different cystic phenotypes
Bakey Z, Bihoreau MT, Piedagnel R, Delestre L, Arnould C, de Villiers AD, Devuyst O, Hoffmann S, Ronco P, Gauguier D and Lelongt B
ANKS3 Co-Localises with ANKS6 in Mouse Renal Cilia and Is Associated with Vasopressin Signaling and Apoptosis In Vivo in Mice
Delestre L, Bakey Z, Prado C, Hoffmann S, Bihoreau MT, Lelongt B and Gauguier D
Single-nucleotide polymorphism discovery and validation in high-density SNP array for genetic analysis in European white oaks
Lepoittevin C, Bodenes C, Chancerel E, Villate L, Lang T, Lesur I, Boury C, Ehrenmann F, Zelenika D, Boland A, Besse C, Garnier-Gere P, Plomion C and Kremer A
Copy number variations alter methylation and parallel IGF2 overexpression in adrenal tumors
Nielsen HM, How-Kit A, Guerin C, Castinetti F, Vollan HKM, De Micco C, Daunay A, Taieb D, Van Loo P, Besse C, Kristensen VN, Hansen LL, Barlier A, Sebag F and Tost J
Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility
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 YC, Rasmussen-Torvik LJ, Grarup N, Ehm MG, Li L, Baldridge AS, Stancakova A, Abrol R, Besse CL, Boland A, Bork-Jensen J, Fornage M, Freitag DF, Garcia ME, Guo XQ, Hara K, Isaacs A, Jakobsdottir J, Lange LA, Layton JC, Li M, Zhao JH, 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 YN, Chen YD, Cheng CY, Correa A, Czajkowski J, Dehghan A, Ehret GB, Eiriksdottir G, Escher SA, Farmaki AE, Franberg 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, Jorgensen ME, Jorgensen T, Karaleftheri M, Khor CC, Kirkpatrick A, Kraja AT, Kuusisto J, Lange EM, Lee IT, Lee WJ, Leong A, Liao JM, Liu CY, Liu YM, 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, Renstrom 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, Cupples LA, Hansen T, Ingelsson E, Karter AJ, Lorenzo C, Mathias RA, Norris JM, Peloso GM, Sheu WHH, 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, Tai ES, van Duijn CM, Wareham NJ, Waterworth DM, Boerwinkle E, Kao WHL, Florez JC, Loos RJF, Wilson JG, Frayling TM, Siscovick DS, Dupuis J, Rotter JI, Meigs JB, Scott RA, Goodarzi MO, Sharp SJ, Forouhi NG, Kerrison ND, Lucarelli DM, Sims M, Barroso I, McCarthy MI, Arriola L, Balkau B, Barricarte A, Gonzalez C, Grioni S, Kaaks R, Key TJ, Navarro C, Nilsson PM, Overvad K, Palli D, Panico S, Quiros JR, Rolandsson O, Sacerdote C, Sanchez MJ, Slimani N, Tjonneland A, Tumino R, van der A DL, van der Schouw YT, Riboli E and The E-IC
Gene-Wide Analysis Detects Two New Susceptibility Genes for Alzheimer's Disease
Escott-Price V, Bellenguez C, Wang LS, Choi SH, Harold D, Jones L, Holmans P, Gerrish A, Vedernikov A, Richards A, DeStefano AL, Lambert JC, Ibrahim-Verbaas CA, Naj AC, Sims R, Jun G, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thornton-Wells TA, Denning N, Smith AV, Chouraki V, Thomas C, Ikram MA, Zelenika D, Vardarajan BN, Kamatani Y, Lin CF, Schmidt H, Kunkle B, Dunstan ML, Vronskaya M, Johnson AD, Ruiz A, Bihoreau MT, Reitz C, Pasquier F, Hollingworth P, Hanon O, Fitzpatrick AL, Buxbaum JD, Campion D, Crane PK, Baldwin C, Becker T, Gudnason V, Cruchaga C, Craig D, Amin N, Berr C, Lopez OL, De Jager PL, Deramecourt V, Johnston JA, Evans D, Lovestone S, Letenneur L, Hernandez I, Rubinsztein DC, Eiriksdottir G, Sleegers K, Goate AM, Fievet N, Huentelman MJ, Gill M, Brown K, Kamboh MI, Keller L, Barberger-Gateau P, McGuinness B, Larson EB, Myers AJ, Dufouil C, Todd S, Wallon D, Love S, Rogaeva E, Gallacher J, St George-Hyslop P, Clarimon J, Lleo A, Bayer A, Tsuang DW, Yu L, Tsolaki M, Bossu P, Spalletta G, Proitsi P, Collinge J, Sorbi S, Garcia FS, Fox NC, Hardy J, Naranjo MCD, Bosco P, Clarke R, Brayne C, Galimberti D, Scarpini E, Bonuccelli U, Mancuso M, Siciliano G, Moebus S, Mecocci P, Del Zompo M, Maier W, Hampel H, Pilotto A, Frank-Garcia A, Panza F, Solfrizzi V, Caffarra P, Nacmias B, Perry W, Mayhaus M, Lannfelt L, Hakonarson H, Pichler S, Carrasquillo MM, Ingelsson M, Beekly D, Alvarez V, Zou FG, Valladares O, Younkin SG, Coto E, Hamilton-Nelson KL, Gu W, Razquin C, Pastor P, Mateo I, Owen MJ, Faber KM, Jonsson PV, Combarros O, O'Donovan MC, Cantwell LB, Soininen H, Blacker D, Mead S, Mosley TH, Bennett DA, Harris TB, Fratiglioni L, Holmes C, de Bruijn R, Passmore P, Montine TJ, Bettens K, Rotter JI, Brice A, Morgan K, Foroud TM, Kukull WA, Hannequin D, Powell JF, Nalls MA, Ritchie K, Lunetta KL, Kauwe JSK, Boerwinkle E, Riemenschneider M, Boada M, Hiltunen M, Martin ER, Schmidt R, Rujescu D, Dartigues JF, Mayeux R, Tzourio C, Hofman A, Nothen MM, Graff C, Psaty BM, Haines JL, Lathrop M, Pericak-Vance MA, Launer LJ, Van Broeckhoven C, Farrer LA, van Duijn CM, Ramirez A, Seshadri S, Schellenberg GD, Amouyel P, Williams J and United Kingdom Brain E
Association between circadian genes, bipolar disorders and chronotypes
Etain B, Jamain S, Milhiet V, Lajnef M, Boudebesse C, Dumaine A, Mathieu F, Gombert A, Ledudal K, Gard S, Kahn JP, Henry C, Boland A, Zelenika D, Lechner D, Lathrop M, Leboyer M and Bellivier F
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