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Publications du CNRGH

Publié le 8 novembre 2017
  
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
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 and Campion D
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
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, Study D, Riviere JB, Brunner HG, Hoischen A, Newbury-Ecob R, Faivre L, Thauvin-Robinet C and Thevenon J
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
Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis
Bruel AL, Masurel-Paulet A, Riviere JB, Duffourd Y, Lehalle D, Bensignor C, Huet F, Borgnon J, Roucher F, Kuentz P, Deleuze JF, Thauvin-Robinet C, Faivre L and Thevenon J
Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing
Cerino M, Gorokhova S, Laforet P, Ben Yaou R, Salort-Campana E, Pouget J, Attarian S, Eymard B, Deleuze JF, Boland A, Behin A, Stojkovic T, Bonne G, Levy N, Bartoli M and Krahn M
Association of impaired renal function with venous thrombosis: A genetic risk score approach
Charmet R, van Hylckama Vlieg A, Germain M, Roussel R, Marre M, Debette S, Amouyel P, Deleuze JF, Hadjadj S, Rosendaal FR, Morange PE and Tregouet DA
Histone variant H2A.J accumulates in senescent cells and promotes inflammatory gene expression
Contrepois K, Coudereau C, Benayoun BA, Schuler N, Roux PF, Bischof O, Courbeyrette R, Carvalho C, Thuret JY, Ma ZH, Derbois C, Nevers MC, Volland H, Redon CE, Bonner WM, Deleuze JF, Wiel C, Bernard D, Snyder MP, Rube CE, Olaso R, Fenaille F and Mann C
A family-based genome-wide association study reveals an association of spondyloarthritis with MAPK14
Costantino F, Talpin A, Said-Nahal R, Leboime A, Zinovieva E, Zelenika D, Gut I, Charon C, Izac B, Weissman M, Chiocchia G, Reveille J, Breban M and Garchon HJ
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
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
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 and Lebbe C
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, Jean-Francois G and Julier C
HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy
Echaniz-Laguna A, Lornage X, Lannes B, Schneider R, Bierry G, Dondaine N, Boland A, Deleuze JF, Bohm J, Thompson J, Laporte J and Biancalana V
Influence of lung CT changes in chronic obstructive pulmonary disease (COPD) on the human lung microbiome
Engel M, Endesfelder D, Schloter-Hai B, Kublik S, Granitsiotis MS, Boschetto P, Stendardo M, Barta I, Dome B, Deleuze JF, Boland A, Muller-Quernheim J, Prasse A, Welte T, Hohlfeld J, Subramanian D, Parr D, Gut IG, Greulich T, Koczulla AR, Nowinski A, Gorecka D, Singh D, Gupta S, Brightling CE, Hoffmann H, Frankenberger M, Hofer TP, Burggraf D, Heiss-Neumann M, Ziegler-Heitbrock L, Schloter M and Castell WZ
DNA methylation signature (SAM40) identifies subgroups of the Luminal A breast cancer samples with distinct survival
Fleischer T, Klajic J, Aure MR, Louhimo R, Pladsen AV, Ottestad L, Touleimat N, Laakso M, Halvorsen AR, Alnaes GIG, Riis MLH, Helland A, Hautaniemi S, Lonning PE, Naume B, Borresen-Dale AL, Tost J and Kristensen VN
Epigenetic Changes in Chronic Inflammatory Diseases
Fogel O, Richard-Miceli C and Tost J
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
Bdf1 Bromodomains Are Essential for Meiosis and the Expression of Meiotic-Specific Genes
Garcia-Oliver E, Ramus C, Perot J, Arlotto M, Champleboux M, Mietton F, Battail C, Boland A, Deleuze JF, Ferro M, Coute Y and Govin J
The French Exome (FREX) Project: A Population-based Panel of Exomes to Help Filter Out Common Local Variants
Genin E, Redon R, Deleuze JF, Campion D, Lambert JC, Dartigues JF and Consortium F
Pulmonary endothelial cell DNA methylation signature in pulmonary arterial hypertension
Hautefort A, Chesne J, Preussner J, Pullamsetti SS, Tost J, Looso M, Antigny F, Girerd B, Riou M, Eddahibi S, Deleuze JF, Seeger W, Fadel E, Simonneau G, Montani D, Humbert M and Perros F
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development
Ivanova EL, Mau-Them FT, Riazuddin S, Kahrizi K, Laugel V, Schaefer E, de Saint Martin A, Runge K, Iqbal Z, Spitz MA, Laura M, Drouot N, Gerard B, Deleuze JF, de Brouwer APM, Razzaq A, Dollfus H, Assir MZ, Nitchke P, Hinckelmann MV, Ropers H, Najmabadi H, van Bokhoven H and Chelly J
Epigenome-wide DNA methylation analysis in siblings and monozygotic twins discordant for sporadic Parkinson's disease revealed different epigenetic patterns in peripheral blood mononuclear cells
Kaut O, Schmitt I, Tost J, Busato F, Liu Y, Hofmann P, Witt SH, Rietschel M, Frohlich H and Wullner U
Early born neurons are abnormally positioned in the doublecortin knockout hippocampus
Khalaf-Nazzal R, Stouffer MA, Olaso R, Muresan L, Roumegous A, Lavilla V, Carpentier W, Moutkine I, Dumont S, Albaud B, Cagnard N, Crollius HR and Francis F
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
Mutational signatures reveal the dynamic interplay of risk factors and cellular processes during liver tumorigenesis
Letouze E, Shinde J, Renault V, Couchy G, Blanc JF, Tubacher E, Bayard Q, Bacq D, Meyer V, Semhoun J, Bioulac-Sage P, Prevot S, Azoulay D, Paradis V, Imbeaud S, Deleuze JF and Zucman-Rossi J
Recessive MYPN Mutations Cause Cap Myopathy with Occasional Nemaline Rods
Lornage X, Malfatti E, Cheraud C, Schneider R, Biancalana V, Cuisset JM, Garibaldi M, Eymard B, Fardeau M, Boland A, Deleuze JF, Thompson J, Carlier RY, Bohm J, Romero NB and Laporte J
Clinical value of early detection of circulating tumour DNA-BRAFV600mut in patients with metastatic melanoma treated with a BRAF inhibitor
Louveau B, Tost J, Mauger F, Sadoux A, Podgorniak MP, How-Kit A, Pages C, Roux J, Da Meda L, Lebbe C and Mourah S
Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma
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 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, Houlston RS, Brennan P, Chanock SJ, Scelo G and Purdue MP
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 novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype
Manes G, Joly W, Guignard T, Smirnov V, Berthemy S, Bocquet B, Audo I, Zeitz C, Sahel J, Cazevieille C, Senechal A, Deleuze JF, Blanche-Koch H, Boland A, Carroll P, Genevieve D, Zanlonghi X, Arndt C, Hamel CP, Defoort-Dhellemmes S and Meunier I
COLD-PCR Technologies in the Area of Personalized Medicine: Methodology and Applications
Mauger F, How-Kit A and Tost J
CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders
Mercati O, Huguet G, Danckaert A, Andre-Leroux G, Maruani A, Bellinzoni M, Rolland T, Gouder L, Mathieu A, Buratti J, Amsellem F, Benabou M, Van-Gils J, Beggiato A, Konyukh M, Bourgeois JP, Gazzellone MJ, Yuen RKC, Walker S, Delepine M, Boland A, Regnault B, Francois M, Van Den Abbeele T, Mosca-Boidron AL, Faivre L, Shimoda Y, Watanabe K, Bonneau D, Rastam M, Leboyer M, Scherer SW, Gillberg C, Delorme R, Cloez-Tayarani I and Bourgeron T
Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A
Mercier S, Lornage X, Malfatti E, Marcorelles P, Letournel F, Boscher C, Caillaux G, Magot A, Boham J, Boland A, Deleuze JF, Romero N, Pereon Y and Laporte J
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
NPJ Genom Med 2 (), , 2017
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
Brain calcifications and PCDH12 variants
Nicolas G, Sanchez-Contreras M, Ramos EM, Lemos RR, Ferreira J, Moura D, Sobrido MJ, Richard AC, Lopez AR, Legati A, Deleuze JF, Boland A, Quenez O, Krystkowiak P, Favrole P, Geschwind DH, Aran A, Segel R, Levy-Lahad E, Dickson DW, Coppola G, Rademakers R and de Oliveira JRM
Genomic landscape of human diversity across Madagascar
Pierron D, Heiske M, Razafindrazaka H, Rakoto I, Rabetokotany N, Ravololomanga B, Rakotozafy LM, Rakotomalala MM, Razafiarivony M, Rasoarifetra B, Raharijesy MA, Razafindralambo L, Ramilisonina, Fanony F, Lejamble S, Thomas O, Mohamed Abdallah A, Rocher C, Arachiche A, Tonaso L, Pereda-Loth V, Schiavinato S, Brucato N, Ricaut FX, Kusuma P, Sudoyo H, Ni S, Boland A, Deleuze JF, Beaujard P, Grange P, Adelaar S, Stoneking M, Rakotoarisoa JA, Radimilahy C and Letellier T
Proceedings of the National Academy of Sciences of the United States of America 114 (32), E6498-E6506, 2017
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
Epigenetics and allergy: from basic mechanisms to clinical applications
Potaczek DP, Harb H, Michel S, Alhamwe BA, Renz H and Tost J
Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features
Saultier P, Vidal L, Canault M, Bernot D, Falaise C, Pouymayou C, Bordet JC, Saut N, Rostan A, Baccini V, Peiretti F, Favier M, Lucca P, Deleuze JF, Olaso R, Boland A, Morange PE, Gachet C, Malergue F, Faure S, Eckly A, Tregouet DA, Poggi M and Alessi MC
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
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
Schartner V, Romero NB, Donkervoort S, Treves S, Munot P, Pierson TM, Dabaj I, Malfatti E, Zaharieva IT, Zorzato F, Neto OA, Brochier G, Lornage X, Eymard B, Taratuto AL, Bohm J, Gonorazky H, Ramos-Platt L, Feng L, Phadke R, Bharucha-Goebel DX, Sumner CJ, Bui MT, Lacene E, Beuvin M, Labasse C, Dondaine N, Schneider R, Thompson J, Boland A, Deleuze JF, Matthews E, Pakleza AN, Sewry CA, Biancalana V, Quijano-Roy S, Muntoni F, Fardeau M, Bonnemann CG and Laporte J
Comparison of the quantification of KRAS mutations by digital PCR and E-ice-COLD-PCR in circulating-cell-free DNA from metastatic colorectal cancer patients
Sefrioui D, Mauger F, Leclere L, Beaussire L, Di Fiore F, Deleuze JF, Sarafan-Vasseur N and Tost J
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
Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes
Simioni M, Artiguenave F, Meyer V, Sgardioli IC, Viguetti-Campos NL, Lopes Monlleo I, Maciel-Guerra AT, Steiner CE and Gil-da-Silva-Lopes VL
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease
Sims R, van der Lee SJ, Naj AC, Bellenguez C, Badarinarayan N, Jakobsdottir J, Kunkle BW, Boland A, Raybould R, Bis JC, Martin ER, Grenier-Boley B, Heilmann-Heimbach S, Chouraki V, Kuzma AB, Sleegers K, Vronskaya M, Ruiz A, Graham RR, Olaso R, Hoffmann P, Grove ML, Vardarajan BN, Hiltunen M, Nothen MM, White CC, Hamilton-Nelson KL, Epelbaum J, Maier W, Choi SH, Beecham GW, Dulary C, Herms S, Smith AV, Funk CC, Derbois C, Forstner AJ, Ahmad S, Li H, Bacq D, Harold D, Satizabal CL, Valladares O, Squassina A, Thomas R, Brody JA, Qu L, Sanchez-Juan P, Morgan T, Wolters FJ, Zhao Y, Garcia FS, Denning N, Fornage M, Malamon J, Naranjo MCD, Majounie E, Mosley TH, Dombroski B, Wallon D, Lupton MK, Dupuis J, Whitehead P, Fratiglioni L, Medway C, Jian X, Mukherjee S, Keller L, Brown K, Lin H, Cantwell LB, Panza F, McGuinness B, Moreno-Grau S, Burgess JD, Solfrizzi V, Proitsi P, Adams HH, Allen M, Seripa D, Pastor P, Cupples LA, Price ND, Hannequin D, Frank-Garcia A, Levy D, Chakrabarty P, Caffarra P, Giegling I, Beiser AS, Giedraitis V, Hampel H, Garcia ME, Wang X, Lannfelt L, Mecocci P, Eiriksdottir G, Crane PK, Pasquier F, Boccardi V, Henandez I, Barber RC, Scherer M, Tarraga L, Adams PM, Leber M, Chen Y, Albert MS, Riedel-Heller S, Emilsson V, Beekly D, Braae A, Schmidt R, Blacker D, Masullo C, Schmidt H, Doody RS, Spalletta G, Jr WTL, Fairchild TJ, Bossu P, Lopez OL, Frosch MP, Sacchinelli E, Ghetti B, Yang Q, Huebinger RM, Jessen F, Li S, Kamboh MI, Morris J, Sotolongo-Grau O, Katz MJ, Corcoran C, Dunstan M, Braddel A, Thomas C, Meggy A, Marshall R, Gerrish A, Chapman J, Aguilar M, Taylor S, Hill M, Fairen MD, Hodges A, Vellas B, Soininen H, Kloszewska I, Daniilidou M, Uphill J, Patel Y, Hughes JT, Lord J, Turton J, Hartmann AM, Cecchetti R, Fenoglio C, Serpente M, Arcaro M, Caltagirone C, Orfei MD, Ciaramella A, Pichler S, Mayhaus M, Gu W, Lleo A, Fortea J, Blesa R, Barber IS, Brookes K, Cupidi C, Maletta RG, Carrell D, Sorbi S, Moebus S, Urbano M, Pilotto A, Kornhuber J, Bosco P, Todd S, Craig D, Johnston J, Gill M, Lawlor B, Lynch A, Fox NC, Hardy J, Albin RL, Apostolova LG, Arnold SE, Asthana S, Atwood CS, Baldwin CT, Barnes LL, Barral S, Beach TG, Becker JT, Bigio EH, Bird TD, Boeve BF, Bowen JD, Boxer A, Burke JR, Burns JM, Buxbaum JD, Cairns NJ, Cao C, Carlson CS, Carlsson CM, Carney RM, Carrasquillo MM, Carroll SL, Diaz CC, Chui HC, Clark DG, Cribbs DH, Crocco EA, DeCarli C, Dick M, Duara R, Evans DA, Faber KM, Fallon KB, Fardo DW, Farlow MR, Ferris S, Foroud TM, Galasko DR, Gearing M, Geschwind DH, Gilbert JR, Graff-Radford NR, Green RC, Growdon JH, Hamilton RL, Harrell LE, Honig LS, Huentelman MJ, Hulette CM, Hyman BT, Jarvik GP, Abner E, Jin LW, Jun G, Karydas A, Kaye JA, Kim R, Kowall NW, Kramer JH, LaFerla FM, Lah JJ, Leverenz JB, Levey AI, Li G, Lieberman AP, Lunetta KL, Lyketsos CG, Marson DC, Martiniuk F, Mash DC, Masliah E, McCormick WC, McCurry SM, McDavid AN, McKee AC, Mesulam M, Miller BL, Miller CA, Miller JW, Morris JC, Murrell JR, Myers AJ, O'Bryant S, Olichney JM, Pankratz VS, Parisi JE, Paulson HL, Perry W, Peskind E, Pierce A, Poon WW, Potter H, Quinn JF, Raj A, Raskind M, Reisberg B, Reitz C, Ringman JM, Roberson ED, Rogaeva E, Rosen HJ, Rosenberg RN, Sager MA, Saykin AJ, Schneider JA, Schneider LS, Seeley WW, Smith AG, Sonnen JA, Spina S, Stern RA, Swerdlow RH, Tanzi RE, Thornton-Wells TA, Trojanowski JQ, Troncoso JC, Van Deerlin VM, Van Eldik LJ, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Wilhelmsen KC, Williamson J, Wingo TS, Woltjer RL, Wright CB, Yu CE, Yu L, Garzia F, Golamaully F, Septier G, Engelborghs S, Vandenberghe R, De Deyn PP, Fernadez CM, Benito YA, Thonberg H, Forsell C, Lilius L, Kinhult-Stahlbom A, Kilander L, Brundin R, Concari L, Helisalmi S, Koivisto AM, Haapasalo A, Dermecourt V, Fievet N, Hanon O, Dufouil C, Brice A, Ritchie K, Dubois B, Himali JJ, Keene CD, Tschanz J, Fitzpatrick AL, Kukull WA, Norton M, Aspelund T, Larson EB, Munger R, Rotter JI, Lipton RB, Bullido MJ, Hofman A, Montine TJ, Coto E, Boerwinkle E, Petersen RC, Alvarez V, Rivadeneira F, Reiman EM, Gallo M, O'Donnell CJ, Reisch JS, Bruni AC, Royall DR, Dichgans M, Sano M, Galimberti D, St George-Hyslop P, Scarpini E, Tsuang DW, Mancuso M, Bonuccelli U, Winslow AR, Daniele A, Wu CK, Peters O, Nacmias B, Riemenschneider M, Heun R, Brayne C, Rubinsztein DC, Bras J, Guerreiro R, Al-Chalabi A, Shaw CE, Collinge J, Mann D, Tsolaki M, Clarimon J, Sussams R, Lovestone S, O'Donovan MC, Owen MJ, Behrens TW, Mead S, Goate AM, Uitterlinden AG, Holmes C, Cruchaga C, Ingelsson M, Bennett DA, Powell J, Golde TE, Graff C, De Jager PL, Morgan K, Ertekin-Taner N, Combarros O, Psaty BM, Passmore P, Younkin SG, Berr C, Gudnason V, Rujescu D, Dickson DW, Dartigues JF, DeStefano AL, Ortega-Cubero S, Hakonarson H, Campion D, Boada M, Kauwe JK, Farrer LA, Van Broeckhoven C, Ikram MA, Jones L, Haines JL, Tzourio C, Launer LJ, Escott-Price V, Mayeux R, Deleuze JF, Amin N, Holmans PA, Pericak-Vance MA, Amouyel P, van Duijn CM, Ramirez A, Wang LS, Lambert JC, Seshadri S, Williams J and Schellenberg GD
Toward dynamic informed consent
Stoekle HC, Deleuze JF, Vogt G and Herve C
NSD1 Inactivation and SETD2 Mutation Drive a Convergence toward Loss of Function of H3K36 Writers in Clear Cell Renal Cell Carcinomas
Su XP, Zhang JP, Mouawad R, Comperat E, Roupret M, Allanic F, Parra J, Bitker MO, Thompson EJ, Gowrishankar B, Houldsworth J, Weinstein JN, Tost J, Broom BM, Khayat D, Spano JP, Tannir NM and Malouf GG
Protein S Heerlen mutation heterozygosity is associated with venous thrombosis risk
Suchon P, Germain M, Delluc A, Smadja D, Jouven X, Gyorgy B, Saut N, Ibrahim M, Deleuze JF, Alessi MC, Morange PE and Tregouet DA
Epigenetics of the immune system and alterations in inflammation and autoimmunity Foreword
Tost J, Gay S and Firestein G
TRANSCRIPTIONAL DIVERSITY AND DEVELOPMENTAL POTENTIAL OF EARLY HEMATOPOIETIC PROGENITORS REVEALED BY CELLULAR BARCODING AND TRANSCRIPTOME-WIDE PROFILING
Tronik-Le Roux D, Legrand A, Michaels V, Renard J, Chalabi S, Olaso R, Deleuze JF, Battail C and Ezine S
Novel landscape of HLA-G isoforms expressed in clear cell renal cell carcinoma patients
Tronik-Le Roux D, Renard J, Verine J, Renault V, Tubacher E, LeMaoult J, Rouas-Freiss N, Deleuze JF, Desgrandschamps F and Carosella ED
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, Bugge Tinggaard A, Renault V, Deleuze JF, Mariette X and Tost J
B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation
Yauy K, Tran Mau-Them F, Willems M, Coubes C, Blanchet P, Herlin C, Taleb Arrada I, 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
Systemic epigenetic response to recombinant lentiviral vectors independent of proviral integration
Aranyi T, Stockholm D, Yao R, Poinsignon C, Wiart T, Corre G, Touleimat N, Tost J, Galy A and Paldi A
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
Genome-wide DNA methylation analyses in lung adenocarcinomas: Association with EGFR, KRAS and TP53 mutation status, gene expression and prognosis
Bjaanaes MM, Fleischer T, Halvorsen AR, Daunay A, Busato F, Solberg S, Jorgensen L, Kure E, Edvardsen H, Borresen-Dale AL, Brustugun OT, Tost J, Kristensen V and Helland A
Quantitative comparison of DNA methylation assays for biomarker development and clinical applications
Bock C, Halbritter F, Carmona FJ, Tierling S, Datlinger P, Assenov Y, Berdasco M, Bergmann AK, Booher K, Busato F, Campan M, Dahl C, Dahmcke CM, Diep D, Fernandez AF, Gerhauser C, Haake A, Heilmann K, Holcomb T, Hussmann D, Ito M, Klaver R, Kreutz M, Kulis M, Lopez V, Nair SS, Paul DS, Plongthongkum N, Qu WJ, Queiros AC, Reinicke F, Sauter G, Schlomm T, Statham A, Stirzaker C, Strogantsev R, Urdinguio RG, Walter K, Weichenhan D, Weisenberger DJ, Beck S, Clark SJ, Esteller M, Ferguson-Smith AC, Fraga MF, Guldberg P, Hansen LL, Laird PW, Martin-Subero JI, Nygren AOH, Peist R, Plass C, Shames DS, Siebert R, Sun XG, Tost J, Walter J, Zhang K and Consortium B
Pubertal development and prostate cancer risk: Mendelian randomization study in a population-based cohort
Bonilla C, Lewis SJ, Martin RM, Donovan JL, Hamdy FC, Neal DE, Eeles R, Easton D, Kote-Jarai Z, Al Olama AA, Benlloch S, Muir K, Giles GG, Wiklund F, Gronberg H, Haiman CA, Schleutker J, Nordestgaard BG, Travis RC, Pashayan N, Khaw KT, Stanford JL, Blot WJ, Thibodeau S, Maier C, Kibel AS, Cybulski C, Cannon-Albright L, Brenner H, Park J, Kaneva R, Batra J, Teixeira MR, Pandha H, Lathrop M, Smith GD and Consortium P
Assessing the role of insulin-like growth factors and binding proteins in prostate cancer using Mendelian randomization: Genetic variants as instruments for circulating levels
Bonilla C, Lewis SJ, Rowlands MA, Gaunt TR, Smith GD, Gunnell D, Palmer T, Donovan JL, Hamdy FC, Neal DE, Eeles R, Easton D, Kote-Jarai Z, Al Olama AA, Benlloch S, Muir K, Giles GG, Wiklund F, Gronberg H, Haiman CA, Schleutker J, Nordestgaard BG, Travis RC, Pashayan N, Khaw KT, Stanford JL, Blot WJ, Thibodeau S, Maier C, Kibel AS, Cybulski C, Cannon-Albright L, Brenner H, Park J, Kaneva R, Batra J, Teixeira MR, Pandha H, Lathrop M, Martin RM, Holly JMP and Consortium P
Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia
Broix L, Jagline H, Ivanova EL, Schmucker S, Drouot N, Clayton-Smith J, Pagnamenta AT, Metcalfe KA, Isidor B, Louvier UW, Poduri A, Taylor JC, Tilly P, Poirier K, Saillour Y, Lebrun N, Stemmelen T, Rudolf G, Muraca G, Saintpierre B, Elmorjani A, Moise M, Weirauch NB, Guerrini R, Boland A, Olaso R, Masson C, Tripathy R, Keays D, Beldjord C, Nguyen L, Godin J, Kini U, Nischke P, Deleuze JF, Bahi-Buisson N, Sumara I, Hinckelmann MV, Chelly J and Deciphering Dev Disorders S
Genome-Wide Association Analysis of Young-Onset Stroke Identifies a Locus on Chromosome 10q25 Near HABP2
Cheng YC, Stanne TM, Giese AK, Ho WK, Traylor M, Amouyel P, Holliday EG, Malik R, Xu HC, Kittner SJ, Cole JW, O'Connell JR, Danesh J, Rasheed A, Zhao W, Engelter S, Grond-Ginsbach C, Kamatani Y, Lathrop M, Leys D, Thijs V, Metso TM, Tatlisumak T, Pezzini A, Parati EA, Norrving B, Bevan S, Rothwell PM, Sudlow C, Slowik A, Lindgren A, Walters MR, Jannes J, Shen J, Crosslin D, Doheny K, Laurie CC, Kanse SM, Bis JC, Fornage M, Mosley TH, Hopewell JC, Strauch K, Muller-Nurasyid M, Gieger C, Waldenberger M, Peters A, Meisinger C, Ikram MA, Longstreth WT, Meschia JF, Seshadri S, Sharma P, Worrall B, Jern C, Levi C, Dichgans M, Boncoraglio GB, Markus HS, Debette S, Rolfs A, Saleheen D, Mitchell BD and Consortium W-
Whole-genome single nucleotide polymorphism-based linkage analysis in spondyloarthritis multiplex families reveals a new susceptibility locus in 13q13
Costantino F, Chaplais E, Leturcq T, Said-Nahal R, Leboime A, Zinovieva E, Zelenika D, Gut I, Charon C, Chiocchia G, Breban M and Garchon HJ
A family-based genome-wide association study reveals an association of spondyloarthritis with MAPK14
Costantino F, Talpin A, Said-Nahal R, Leboime A, Zinovieva E, Zelenika D, Gut I, Charon C, Izac B, Weissman M, Chiocchia G, Reveille J, Breban M and Garchon HJ
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
Severe axial muscular involvement in Laing distal myopathy with a thumbprint finding on MRI
Dabaj I, Moreno CAM, Neto OA, Bertini E, Castiglioni C, Guimaraes JB, Reed UC, Mesrob L, Lechner D, Fiorillo C, Malfati E, Boland A, Deleuze J, Bonnemann C, Laporte J, Romero N, Gomez D, Quijano-Roy S, Carlier R and Zanoteli E
Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing
David S, Ferreira J, Quenez O, Rovelet-Lecrux A, Richard AC, Verin M, Jurici S, Le Ber I, Boland A, Deleuze JF, Frebourg T, de Oliveira JRM, Hannequin D, Campion D and Nicolas G
Genome-wide nucleosome specificity and function of chromatin remodellers in ES cells
de Dieuleveult M, Yen KY, Hmitou I, Depaux A, Oussouar FB, Dargham DB, Jounier S, Humbertclaude H, Ibierre FR, Baulard C, Farrell NP, Park B, Keime C, Carriere L, Erlivet SB, Gut M, Gut I, Werner M, Deleuze JF, Olaso R, Aude JC, Chantalat S, Pugh BFR and Gerard M
GFRA3 promoter methylation may be associated with decreased postoperative survival in gastric cancer
Eftang LL, Klajic J, Kristensen VN, Tost J, Esbensen QY, Blom GP, Bukholm IRK and Bukholm G
A whole-genome sequence and transcriptome perspective on HER2-positive breast cancers
Ferrari A, Vincent-Salomon A, Pivot X, Sertier AS, Thomas E, Tonon L, Boyault S, Mulugeta E, Treilleux I, MacGrogan G, Arnould L, Kielbassa J, Le Texier V, Blanche H, Deleuze JF, Jacquemier J, Mathieu MC, Penault-Llorca F, Bibeau F, Mariani O, Mannina C, Pierga JY, Tredan O, Bachelot T, Bonnefoi H, Romieu G, Fumoleau P, Delaloge S, Rios M, Ferrero JM, Tarpin C, Bouteille C, Calvo F, Gut IG, Gut M, Martin S, Nik-Zainal S, Stratton MR, Pauporte I, Saintigny P, Birnbaum D, Viari A and Thomas G
Genome-wide imputation study identifies novel HLA locus for pulmonary fibrosis and potential role for auto-immunity in fibrotic idiopathic interstitial pneumonia
Fingerlin TE, Zhang W, Yang IV, Ainsworth HC, Russell PH, Blumhagen RZ, Schwarz MI, Brown KK, Steele MP, Loyd JE, Cosgrove GP, Lynch DA, Groshong S, Collard HR, Wolters PJ, Bradford WZ, Kossen K, Seiwert SD, du Bois RM, Garcia CK, Devine MS, Gudmundsson G, Isaksson HJ, Kaminski N, Zhang Y, Gibson KF, Lancaster LH, Maher TM, Molyneaux PL, Wells AU, Moffatt MF, Selman M, Pardo A, Kim DS, Crapo JD, Make BJ, Regan EA, Walek DS, Daniel JJ, Kamatani Y, Zelenika D, Murphy E, Smith K, McKean D, Pedersen BS, Talbert J, Powers J, Markin CR, Beckman KB, Lathrop M, Freed B, Langefeld CD and Schwartz DA
Immunochip analysis identifies association of the RAD50/IL13 region with human longevity
Flachsbart F, Ellinghaus D, Gentschew L, Heinsen FA, Caliebe A, Christiansen L, Nygaard M, Christensen K, Blanche H, Deleuze JF, Derbois C, Galan P, Buning C, Brand S, Peters A, Strauch K, Muller-Nurasyid M, Hoffmann P, Nothen MM, Lieb W, Franke A, Schreiber S and Nebel A
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
Fritsche LG, Igl W, Bailey JNC, Grassmann F, Sengupta S, Bragg-Gresham JL, Burdon KP, Hebbring SJ, Wen C, Gorski M, Kim IK, Cho D, Zack D, Souied E, Scholl HPN, Bala E, Lee KE, Hunter DJ, Sardell RJ, Mitchell P, Merriam JE, Cipriani V, Hoffman JD, Schick T, Lechanteur YTE, Guymer RH, Johnson MP, Jiang YD, Stanton CM, Buitendijk GHS, Zhan XW, Kwong AM, Boleda A, Brooks M, Gieser L, Ratnapriya R, Branham KE, Foerster JR, Heckenlively JR, Othman MI, Vote BJ, Liang HH, Souzeau E, McAllister IL, Isaacs T, Hall J, Lake S, Mackey DA, Constable IJ, Craig JE, Kitchner TE, Yang ZL, Su ZG, Luo HR, Chen D, Hong OY, Flagg K, Lin D, Mao GP, Ferreyra H, Starke K, von Strachwitz CN, Wolf A, Brandl C, Rudolph G, Olden M, Morrison MA, Morgan DJ, Schu M, Ahn J, Silvestri G, Tsironi EE, Park KH, Farrer LA, Orlin A, Brucker A, Li MY, Curcio CA, Mohand-Said S, Sahel JM, Audo I, Benchaboune M, Cree AJ, Rennie CA, Goverdhan SV, Grunin M, Hagbi-Levi S, Campochiaro P, Katsanis N, Holz FG, Blond F, Blanche H, Deleuze JF, Igo RP, Truitt B, Peachey NS, Meuer SM, Myers CE, Moore EL, Klein R, Hauser MA, Postel EA, Courtenay MD, Schwartz SG, Kovach JL, Scott WK, Liew G, Tan AG, Gopinath B, Merriam JC, Smith RT, Khan JC, Shahid H, Moore AT, McGrath JA, Laux R, Brantley MA, Agarwal A, Ersoy L, Caramoy A, Langmann T, Saksens NTM, de Jong EK, Hoyng CB, Cain MS, Richardson AJ, Martin TM, Blangero J, Weeks DE, Dhillon B, van Duijn CM, Doheny KF, Romm J, Klaver CCW, Hayward C, Gorin MB, Klein ML, Baird PN, den Hollander AI, Fauser S, Yates JRW, Allikmets R, Wang JJ, Schaumberg DA, Klein BEK, Hagstrom SA, Chowers I, Lotery AJ, Leveillard T, Zhang K, Brilliant MH, Hewitt AW, Swaroop A, Chew EY, Pericak-Vance MA, DeAngelis M, Stambolian D, Haines JL, Iyengar SK, Weber BHF, Abecasis GR and Heid IM
Rapid identification of causal mutations in tomato EMS populations via mapping-by-sequencing
Garcia V, Bres C, Just D, Fernandez L, Tai FWJ, Mauxion JP, Le Paslier MC, Berard A, Brunel D, Aoki K, Alseekh S, Fernie AR, Fraser PD and Rothan C
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
A genome-wide association study of pulmonary tuberculosis in Morocco
Grant AV, Sabri A, Abid A, Rhorfi IA, Benkirane M, Souhi H, Amrani HN, Alaoui-Tahiri K, Gharbaoui Y, Lazrak F, Sentissi I, Manessouri M, Belkheiri S, Zaid S, Bouraqadi A, El Amraoui N, Hakam M, Belkadi A, Orlova M, Boland A, Deswarte C, Amar L, Bustamante J, Boisson-Dupuis S, Casanova JL, Schurr E, El Baghdadi J and Abel L
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
DNA Methylation in Newborns and Maternal Smoking in Pregnancy: Genome-wide Consortium Meta-analysis
Joubert BR, Felix JF, Yousefi P, Bakulski KM, Just AC, Breton C, Reese SE, Markunas CA, Richmond RC, Xu CJ, Kupers LK, Oh SS, Hoyo C, Gruzieva O, Soderhal C, Salas LA, Baiz N, Zhang HM, Lepeule J, Ruiz C, Ligthart S, Wang TY, Taylor JA, Duijts L, Sharp GC, Jankipersadsing SA, Nilsen RM, Vaez A, Fallin MD, Hu DL, Litonjua AA, Fuemmeler BF, Huen K, Kere J, Kull I, Munthe-Kaas MC, Gehring U, Bustamante M, Saurel-Coubizolles MJ, Quraishi BM, Ren J, Tost J, Gonzalez JR, Peters MJ, Haberg SE, Xu ZL, van Meurs JB, Gaunt TR, Kerkhof M, Corpeleijn E, Feinberg AP, Eng C, Baccarelli AA, Neelon SEB, Bradman A, Merid SK, Bergstrom A, Herceg Z, Hernandez-Vargas H, Brunekreef B, Pinart M, Heude B, Ewart S, Yao J, Lemonnier N, Franco OH, Wu MC, Hofman A, McArdle W, Van der Vlies P, Falahi F, Gillman MW, Barcellos LF, Kumar A, Wickman M, Guerra S, Charles MA, Holloway J, Auffray C, Tiemeier HW, Smith GD, Postma D, Hivert MF, Eskenazi B, Vrijheid M, Arshad H, Anto JM, Dehghan A, Karmaus W, Annesi-Maesano I, Sunyer J, Ghantous A, Pershagen G, Hollands N, Murphy SK, DeMeo DL, Burchard EG, Ladd-Acosta C, Snieder H, Nystad W, Koppelman GH, Relton CL, Jaddoe VWV, Wilcox A, Melen E and London SJ
A novel Alzheimer disease locus located near the gene encoding tau protein
Jun G, Ibrahim-Verbaas CA, Vronskaya M, Lambert JC, Chung J, Naj A, Kunkle BW, Wang LS, Bis JC, Bellenguez C, Harold D, Lunetta KL, Destefano AL, Grenier-Boley B, Sims R, Beecham GW, Smith AV, Chouraki V, Hamilton-Nelson KL, Ikram MA, Fievet N, Denning N, Martin ER, Schmidt H, Kamatani Y, Dunstan ML, Valladares O, Laza AR, Zelenika D, Ramirez A, Foroud TM, Choi SH, Boland A, Becker T, Kukull WA, van der Lee SJ, Pasquier F, Cruchaga C, Beekly D, Fitzpatrick AL, Hanon O, Gill M, Barber R, Gudnason V, Campion D, Love S, Bennett DA, Amin N, Berr C, Tsolaki M, Buxbaum JD, Lopez OL, Deramecourt V, Fox NC, Cantwell LB, Tarraga L, Dufouil C, Hardy J, Crane PK, Eiriksdottir G, Hannequin D, Clarke R, Evans D, Mosley TH, Letenneur L, Brayne C, Maier W, De Jager P, Emilsson V, Dartigues JF, Hampel H, Kamboh MI, de Bruijn R, Tzourio C, Pastor P, Larson EB, Rotter JI, O'Donovan MC, Montine TJ, Nalls MA, Mead S, Reiman EM, Jonsson PV, Holmes C, St George-Hyslop PH, Boada M, Passmore P, Wendland JR, Schmidt R, Morgan K, Winslow AR, Powell JF, Carasquillo M, Younkin SG, Jakobsdottir J, Kauwe JSK, Wilhelmsen KC, Rujescu D, Nothen MM, Hofman A, Jones L, Haines JL, Psaty BM, Van Broeckhoven C, Holmans P, Launer LJ, Mayeux R, Lathrop M, Goate AM, Escott-Price V, Seshadri S, Pericak-Vance MA, Amouyel P, Williams J, van Duijn CM, Schellenberg GD, Farrer LA and Consortium I
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
Loss of VPS1 3C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy
Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, Cormier-Dequaire F, Hassoun SM, Pujol C, Ciura S, Erpapazoglou Z, Usenko T, Maurage CA, Sahbatou M, Liebau S, Ding JH, Bilgic B, Emre M, Erginel-Unaltuna N, Guven G, Tison F, Tranchant C, Vidailhet M, Corvol JC, Krack P, Leutenegger AL, Nalls MA, Hernandez DG, Heutink P, Gibbs JR, Hardy J, Wood NW, Gasser T, Durr A, Deleuze JF, Tazir M, Destee A, Lohmann E, Kabashi E, Singleton A, Corti O, Brice A, French Parkinson's Dis Genetics S and Ipdgc
Variations of SOST mRNA expression in human bone are associated with DNA polymorphism and DNA methylation in the SOST gene
Lhaneche L, Hald JD, Domingues A, Hannouche D, Delepine M, Zelenika D, Boland A, Ostertag A, Cohen-Solal M, Langdahl BL, Harslof T, de Vernejoul MC, Geoffroy V and Jehan F
Sustained response to salvage therapy for dabrafenib-resistant metastatic Langerhans cell sarcoma
Lorillon G, Mourah S, Vercellino L, de Margerie-Mellon C, Pages C, Goldwirt L, Lebbe C, Tost J and Tazi A
Network Analysis of Metabolite GWAS Hits: Implication of CPS1 and the Urea Cycle in Weight Maintenance
Matone A, Scott-Boyer MP, Carayol J, Fazelzadeh P, Lefebvre G, Valsesia A, Charon C, Vervoort J, Astrup A, Saris WHM, Morine M and Hager J
Multiplexing of E-ice-COLD-PCR Assays for Mutation Detection and Identification
Mauger F, Daunay A, Deleuze JF, Tost J and How-Kit A
New technologies for DNA analysis - a review of the READNA Project
McGinn S, Bauer D, Brefort T, Dong LQ, Ei-Sagheer A, Elsharawy A, Evans G, Falk-Sorqvist E, Forster M, Fredriksson S, Freeman P, Freitag C, Fritzsche J, Gibson S, Gullberg M, Gut M, Heath S, Heath-Brun I, Heron AJ, Hohlbein J, Ke RQ, Lancaster O, Le Reste L, Maglia G, Marie R, Mauger F, Mertes F, Mignardi M, Moens L, Oostmeijer J, Out R, Pedersen JN, Persson F, Picaud V, Rotem D, Schracke N, Sengenes J, Stahler PF, Stade B, Stoddart D, Teng X, Veal CD, Zahra N, Bayley H, Beier M, Brown T, Dekker C, Ekstrom B, Flyvbjerg H, Franke A, Guenther S, Kapanidis AN, Kaye J, Kristensen A, Lehrach H, Mangion J, Sauer S, Schyns E, Tost J, van Helvoort J, van der Zaag PJ, Tegenfeldt JO, Brookes AJ, Mir K, Nilsson M, Willcocks JP and Gut IG
Parental vitamin D deficiency during pregnancy is associated with increased blood pressure in offspring via Panx1 hypermethylation
Meems LMG, Mahmud H, Buikema H, Tost J, Michel S, Takens J, Verkaik-Schakel RN, Vreeswijk-Baudoin I, Mateo-Leach IV, van der Harst P, Plosch T and de Boer RA
Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents
Merlevede J, Droin N, Qin TT, Meldi K, Yoshida K, Morabito M, Chautard E, Auboeuf D, Fenaux P, Braun T, Itzykson R, de Botton S, Quesnel B, Commes T, Jourdan E, Vainchenker W, Bernard O, Pata-Merci N, Solier S, Gayevskiy V, Dinger ME, Cowley MJ, Selimoglu-Buet D, Meyer V, Artiguenave F, Deleuze JF, Preudhomme C, Stratton MR, Alexandrov LB, Padron E, Ogawa S, Koscielny S, Figueroa M and Solary E
Deregulated expression of MiRNas in purified disease relevant blood cell populations in patients with spondyloarthritis
Miceli-Richard C, Tingaard AB, Wang-Renault SF, Busato F, Dougados M and Tost J
European Journal of Immunology 46 (), 509, 2016
Identification of differentially methylated genes in purified disease relevant blood cell populations in patients with spondyloarthritis
Miceli-Richard C, Tingaard AB, Wang-Renault SF, Busato F, Dougados M and Tost J
Overlap between differentially methylated DNA regions in blood B lymphocytes and genetic at-risk loci in primary Sjogren's syndrome
Miceli-Richard C, Wang-Renault SF, Boudaoud S, Busato F, Lallemand C, Bethune K, Belkhir R, Nocturne G, Mariette X and Tost J
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