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Publications du CNRGH

Publié le 2 février 2018
  
A Summary of the Biological Processes, Disease-Associated Changes, and Clinical Applications of DNA Methylation
Andersen GB and Tost J
miRNA profiling identifies deregulated miRNAs associated with osteosarcoma development and time to metastasis in two large cohorts
Andersen GB, Knudsen A, Hager H, Hansen LL and Tost J
Performance comparison of three DNA extraction kits on human whole-exome data from formalin-fixed paraffin-embedded normal and tumor samples
Bonnet E, Moutet ML, Baulard C, Bacq-Daian D, Sandron F, Mesrob L, Fin B, Delepine M, Palomares MA, Jubin C, Blanche H, Meyer V, Boland A, Olaso R and Deleuze JF
Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm
Bourcier R, Le Scouarnec S, Bonnaud S, Karakachoff M, Bourcereau E, Heurtebise-Chretien S, Menguy C, Dina C, Simonet F, Moles A, Lenoble C, Lindenbaum P, Chatel S, Isidor B, Genin E, Deleuze JF, Schott JJ, Le Marec H, Loirand G, Desal H and Redon R
The Comoros Show the Earliest Austronesian Gene Flow into the Swahili Corridor
Brucato N, Fernandes V, Mazieres S, Kusuma P, Cox MP, Ng'ang'a JW, Omar M, Simeone-Senelle MC, Frassati C, Alshamali F, Fin B, Boland A, Deleuze JF, Stoneking M, Adelaar A, Crowther A, Boivin N, Pereira L, Bailly P, Chiaroni J and Ricaut FX
Quantitative DNA Methylation Analysis at Single-Nucleotide Resolution by Pyrosequencing(R)
Busato F, Dejeux E, El Abdalaoui H, Gut IG and Tost J
Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human
Coutton C, Vargas AS, Amiri-Yekta A, Kherraf ZE, Ben Mustapha SF, Le Tanno P, Wambergue-Legrand C, Karaouzene T, Martinez G, Crouzy S, Daneshipour A, Hosseini SH, Mitchell V, Halouani L, Marrakchi O, Makni M, Latrous H, Kharouf M, Deleuze JF, Boland A, Hennebicq S, Satre V, Jouk PS, Thierry-Mieg N, Conne B, Dacheux D, Landrein N, Schmitt A, Stouvenel L, Lores P, El Khouri E, Bottari SP, Faure J, Wolf JP, Pernet-Gallay K, Escoffier J, Gourabi H, Robinson DR, Nef S, Dulioust E, Zouari R, Bonhivers M, Toure A, Arnoult C and Ray PF
The Transcription Factor STAT6 Mediates Direct Repression of Inflammatory Enhancers and Limits Activation of Alternatively Polarized Macrophages
Czimmerer Z, Daniel B, Horvath A, Ruckerl D, Nagy G, Kiss M, Peloquin M, Budai MM, Cuaranta-Monroy I, Simandi Z, Steiner L, Nagy B, Poliska S, Banko C, Bacso Z, Schulman IG, Sauer S, Deleuze JF, Allen JE, Benko S and Nagy L
Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement
Dabaj I, Carlier RY, Gomez-Andres D, Abath Neto O, Bertini E, D'Amico A, Fattori F, Pereon Y, Castiglioni C, Rodillo E, Catteruccia M, Guimaraes JB, Oliveira ASB, Reed UC, Mesrob L, Lechner D, Boland A, Deleuze JF, Malfatti E, Bonnemann C, Laporte J, Romero N, Felter A, Quijano-Roy S, Moreno CAM and Zanoteli E
Whole-Genome Bisulfite Sequencing Using the Ovation(R) Ultralow Methyl-Seq Protocol
Daviaud C, Renault V, Mauger F, Deleuze JF and Tost J
Genome-Wide Association Study Identifies a Novel Genetic Risk Factor for Recurrent Venous Thrombosis
de Haan HG, Vlieg AV, Germain M, Baglin TP, Deleuze JF, Tregouet DA and Rosendaal FR
STAT3 Mediates Nilotinib Response in KIT-Altered Melanoma: A Phase II Multicenter Trial of the French Skin Cancer Network
Delyon J, Chevret S, Jouary T, Dalac S, Dalle S, Guillot B, Arnault JP, Avril MF, Bedane C, Bens G, Pham-Ledard A, Mansard S, Grange F, Machet L, Meyer N, Legoupil D, Saiag P, Idir Z, Renault V, Deleuze JF, Hindie E, Battistella M, Dumaz N, Mourah S, Lebbe C and Canc GCCFGS
QuantumClone: Clonal assessment of functional mutations in cancer based on a genotype-aware method for clonal reconstruction
Deveau P, Colmet Daage L, Oldridge D, Bernard V, Bellini A, Chicard M, Clement N, Lapouble E, Combaret V, Boland A, Meyer V, Deleuze JF, Janoueix-Lerosey I, Barillot E, Delattre O, Maris J, Schleiermacher G and Boeva V
Genetic variants of RNASE3 (ECP) and susceptibility to severe malaria in Senegalese population
Diop G, Derbois C, Loucoubar C, Mbengue B, Ndao BN, Thiam F, Thiam A, Ndiaye R, Dieye Y, Olaso R, Deleuze JF and Dieye A
Publisher Correction: Identification and characterization of two functional variants in the human longevity gene FOXO3
Flachsbart F, Dose J, Gentschew L, Geismann C, Caliebe A, Knecht C, Nygaard M, Badarinarayan N, ElSharawy A, May S, Luzius A, Torres GG, Jentzsch M, Forster M, Hasler R, Pallauf K, Lieb W, Derbois C, Galan P, Drichel D, Arlt A, Till A, Krause-Kyora B, Rimbach G, Blanche H, Deleuze JF, Christiansen L, Christensen K, Nothnagel M, Rosenstiel P, Schreiber S, Franke A, Sebens S and Nebel A
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140
Geoffroy V, Stoetzel C, Scheidecker S, Schaefer E, Perrault I, Bar S, Kroll A, Delbarre M, Antin M, Leuvrey AS, Henry C, Blanche H, Decker E, Kloth K, Klaus G, Mache C, Martin-Coignard D, McGinn S, Boland A, Deleuze JF, Friant S, Saunier S, Rozet JM, Bergmann C, Dollfus H and Muller J
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia
Guissart C, Latypova X, Rollier P, Khan TN, Stamberger H, McWalter K, Cho MT, Kjaergaard S, Weckhuysen S, Lesca G, Besnard T, Ounap K, Schema L, Chiocchetti AG, McDonald M, de Bellescize J, Vincent M, Van Esch H, Sattler S, Forghani I, Thiffault I, Freitag CM, Barbouth DS, Cadieux-Dion M, Willaert R, Guillen Sacoto MJ, Safina NP, Dubourg C, Grote L, Carre W, Saunders C, Pajusalu S, Farrow E, Boland A, Karlowicz DH, Deleuze JF, Wojcik MH, Pressman R, Isidor B, Vogels A, Van Paesschen W, Al-Gazali L, Al Shamsi AM, Claustres M, Pujol A, Sanders SJ, Rivier F, Leboucq N, Cogne B, Sasorith S, Sanlaville D, Retterer K, Odent S, Katsanis N, Bezieau S, Koenig M, Davis EE, Pasquier L and Kury S
Major improvement in the detection of microsatellite instability in colorectal cancer using HSP110 T17 E-ice-COLD-PCR
How-Kit A, Daunay A, Buhard O, Meiller C, Sahbatou M, Collura A, Duval A and Deleuze JF
Disentangling the Causes for Faster-X Evolution in Aphids
Jaquiery J, Peccoud J, Ouisse T, Legeai F, Prunier-Leterme N, Gouin A, Nouhaud P, Brisson JA, Bickel R, Purandare S, Poulain J, Battail C, Lemaitre C, Mieuzet L, Le Trionnaire G, Simon JC and Rispe C
Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families
Jonson PH, Palmio J, Johari M, Penttila S, Evila A, Nelson I, Bonne G, Wiart N, Meyer V, Boland A, Deleuze JF, Masson C, Stojkovic T, Chapon F, Romero NB, Sole G, Ferrer X, Ferreiro A, Hackman P, Richard I and Udd B
Whole-Genome Bisulfite Sequencing for the Analysis of Genome-Wide DNA Methylation and Hydroxymethylation Patterns at Single-Nucleotide Resolution
Kernaleguen M, Daviaud C, Shen Y, Bonnet E, Renault V, Deleuze JF, Mauger F and Tost J
MACARON: A python framework to identify and re-annotate multi-base affected codons in whole genome/exome sequence data
Khan W, Saripella GV, Ludwig T, Cuppens T, Thibord F, Genin E, Deleuze JF and Tregouet DA
Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer's Disease Patient
Le Guennec K, Tubeuf H, Hannequin D, Wallon D, Quenez O, Rousseau S, Richard AC, Deleuze JF, Boland A, Frebourg T, Gaildrat P, Campion D, Martins A and Nicolas G
White Blood Cell BRCA1 Promoter Methylation Status and Ovarian Cancer Risk
Lonning PE, Berge EO, Bjornslett M, Minsaas L, Chrisanthar R, Hoberg-Vetti H, Dulary C, Busato F, Bjorneklett S, Eriksen C, Kopperud R, Axcrona U, Davidson B, Bjorge L, Evans DG, Howell A, Salvesen HB, Janszky I, Hveem K, Romundstad PR, Vatten LJ, Tost J, Dorum A and Knappskog S
Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei
Lornage X, Sabouraud P, Lannes B, Gaillard D, Schneider R, Deleuze JF, Boland A, Thompson J, Bohm J, Biancalana V and Laporte J
Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis
Mary L, Piton A, Schaefer E, Mattioli F, Nourisson E, Feger C, Redin C, Barth M, El Chehadeh S, Colin E, Coubes C, Faivre L, Flori E, Genevieve D, Capri Y, Perrin L, Fabre-Teste J, Timbolschi D, Verloes A, Olaso R, Boland A, Deleuze JF, Mandel JL, Gerard B and Giurgea I
Enrichment of methylated molecules using enhanced-ice-co-amplification at lower denaturation temperature-PCR (E-ice-COLD-PCR) for the sensitive detection of disease-related hypermethylation
Mauger F, Kernaleguen M, Lallemand C, Kristensen VN, Deleuze JF and Tost J
Gata3 hypermethylation and Foxp3 hypomethylation are associated with sustained protection and bystander effect following epicutaneous immunotherapy in peanut-sensitized mice
Mondoulet L, Dioszeghy V, Busato F, Plaquet C, Dhelft V, Bethune K, Leclere L, Daviaud C, Ligouis M, Sampson H, Dupont C and Tost J
A General Framework for Interrogation of mRNA Stability Programs Identifies RNA-Binding Proteins that Govern Cancer Transcriptomes
Perron G, Jandaghi P, Solanki S, Safisamghabadi M, Storoz C, Karimzadeh M, Papadakis AI, Arseneault M, Scelo G, Banks RE, Tost J, Lathrop M, Tanguay S, Brazma A, Huang S, Brimo F, Najafabadi HS and Riazalhosseini Y
Strong selection during the last millennium for African ancestry in the admixed population of Madagascar
Pierron D, Heiske M, Razafindrazaka H, Pereda-Loth V, Sanchez J, Alva O, Arachiche A, Boland A, Olaso R, Deleuze JF, Ricaut FX, Rakotoarisoa JA, Radimilahy C, Stoneking M and Letellier T
Consequences of VHL Loss on Global DNA Methylome
Robinson CM, Lefebvre F, Poon BP, Bousard A, Fan X, Lathrop M, Tost J, Kim WY, Riazalhosseini Y and Ohh M
Risk profile, quality of life and care of patients with moderate and advanced CKD : The French CKD-REIN Cohort Study
Stengel B, Metzger M, Combe C, Jacquelinet C, Briancon S, Ayav C, Fouque D, Laville M, Frimat L, Pascal C, Herpe YE, Morel P, Deleuze JF, Schanstra JP, Lange C, Legrand K, Speyer E, Liabeuf S, Robinson BM and Massy ZA
Artificial intelligence in internal medicine: Between science and pseudoscience
Stoekle HC, Charlier P, Herve C, Deleuze JF and Vogt G
Epigenetic plasticity of eosinophils and other immune cell subsets in childhood asthma
Tost J
Twin DNA methylation profiling reveals flare-dependent interferon signature and B-cell promoter hypermethylation in systemic lupus erythematosus
Ulff-Moller CJ, Asmar F, Liu Y, Svendsen AJ, Busato F, Gronbaek K, Tost J and Jacobsen S
Comparative methylome analysis of ICF patients identifies heterochromatin loci that require ZBTB24, CDCA7 and HELLS for their methylated state
Velasco G, Grillo G, Touleimat N, Ferry L, Ivkovic I, Ribierre F, Deleuze JF, Chantalat S, Picard C and Francastel C
Deregulation of microRNA expression in purified T and B lymphocytes from patients with primary Sjogren's syndrome
Wang-Renault SF, Boudaoud S, Nocturne G, Roche E, Sigrist N, Daviaud C, Tinggaard AB, Renault V, Deleuze JF, Mariette X and Tost J
B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation
Yauy K, Mau-Them FT, Willems M, Coubes C, Blanchet P, Herlin C, Arrada IT, Sanchez E, Faure JM, Le Gac MP, Prodhomme O, Boland A, Meyer V, Riviere JB, Duffourd Y, Deleuze JF, Guignard T, Captier G, Barat-Houari M and Genevieve D
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients
Abath Neto O, Moreno CAM, Malfatti E, Donkervoort S, Bohm J, Guimaraes JB, Foley AR, Mohassel P, Dastgir J, Bharucha-Goebel DX, Monges S, Lubieniecki F, Collins J, Medne L, Santi M, Yum S, Banwell B, Salort-Campana E, Rendu J, Faure J, Yis U, Eymard B, Cheraud C, Schneider R, Thompson J, Lornage X, Mesrob L, Lechner D, Boland A, Deleuze JF, Reed UC, Oliveira ASB, Biancalana V, Romero NB, Bonnemann CG, Laporte J and Zanoteli E
Immortalized human myotonic dystrophy muscle cell lines to assess therapeutic compounds
Arandel L, Espinoza MP, Matloka M, Bazinet A, Diniz DD, Naouar N, Rau F, Jollet A, Edom-Vovard F, Mamchaoui K, Tarnopolsky M, Puymirat J, Battail C, Boland A, Deleuze JF, Mouly V, Klein AF and Furling D
Loss of chromosome Y leads to down regulation of KDM5D and KDM6C epigenetic modifiers in clear cell renal cell carcinoma
Arseneault M, Monlong J, Vasudev NS, Laskar RS, Safisamghabadi M, Harnden P, Egevad L, Nourbehesht N, Panichnantakul P, Holcatova I, Brisuda A, Janout V, Kollarova H, Foretova L, Navratilova M, Mates D, Jinga V, Zaridze D, Mukeria A, Jandaghi P, Brennan P, Brazma A, Tost J, Scelo G, Banks RE, Lathrop M, Bourque G and Riazalhosseini Y
The sunflower genome provides insights into oil metabolism, flowering and Asterid evolution
Badouin H, Gouzy J, Grassa CJ, Murat F, Staton SE, Cottret L, Lelandais-Briere C, Owens GL, Carrere S, Mayjonade B, Legrand L, Gill N, Kane NC, Bowers JE, Hubner S, Bellec A, Berard A, Berges H, Blanchet N, Boniface MC, Brunel D, Catrice O, Chaidir N, Claudel C, Donnadieu C, Faraut T, Fievet G, Helmstetter N, King M, Knapp SJ, Lai Z, Le Paslier MC, Lippi Y, Lorenzon L, Mandel JR, Marage G, Marchand G, Marquand E, Bret-Mestries E, Morien E, Nambeesan S, Nguyen T, Pegot-Espagnet P, Pouilly N, Raftis F, Sallet E, Schiex T, Thomas J, Vandecasteele C, Vares D, Vear F, Vautrin S, Crespi M, Mangin B, Burke JM, Salse J, Munos S, Vincourt P, Rieseberg LH and Langlade NB
Corrigendum: Parallel evolution of non-homologous isofunctional enzymes in methionine biosynthesis
Bastard K, Perret A, Mariage A, Bessonnet T, Pinet-Turpault A, Petit JL, Darii E, Bazire P, Vergne-Vaxelaire C, Brewee C, Debard A, Pellouin V, Besnard-Gonnet M, Artiguenave F, Medigue C, Vallenet D, Danchin A, Zaparucha A, Weissenbach J, Salanoubat M and de Berardinis V
Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls
Bellenguez C, Charbonnier C, Grenier-Boley B, Quenez O, Le Guennec K, Nicolas G, Chauhan G, Wallon D, Rousseau S, Richard AC, Boland A, Bourque G, Munter HM, Olaso R, Meyer V, Rollin-Sillaire A, Pasquier F, Letenneur L, Redon R, Dartigues JF, Tzourio C, Frebourg T, Lathrop M, Deleuze JF, Hannequin D, Genin E, Amouyel P, Debette S, Lambert JC, Campion D and Collaborators CM
The JAK2-STAT3 pathway is necessary and sufficient to induce reactivity in astrocytes
Ben Haim L, Ceyzeriat K, Sauvage M, Abjean L, Petit F, Guillermier M, Derbois C, Palomares MA, Gaillard MC, Dufour N, Aubry F, Gipstein P, Bemelmans A, Bonvento G, Dhenain M, Olaso R, Deleuze JF, Hantraye P, Brouillet E and Escartin C
Glia 65 (), E150-E150, 2017
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues
Biancalana V, Scheidecker S, Miguet M, Laquerriere A, Romero NB, Stojkovic T, Abath Neto O, Mercier S, Voermans N, Tanner L, Rogers C, Ollagnon-Roman E, Roper H, Boutte C, Ben-Shachar S, Lornage X, Vasli N, Schaefer E, Laforet P, Pouget J, Moerman A, Pasquier L, Marcorelle P, Magot A, Kusters B, Streichenberger N, Tranchant C, Dondaine N, Schneider R, Gasnier C, Calmels N, Kremer V, Nguyen K, Perrier J, Kamsteeg EJ, Carlier P, Carlier RY, Thompson J, Boland A, Deleuze JF, Fardeau M, Zanoteli E, Eymard B and Laporte J
ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy
Bohm J, Bulla M, Urquhart JE, Malfatti E, Williams SG, O'Sullivan J, Szlauer A, Koch C, Baranello G, Mora M, Ripolone M, Violano R, Moggio M, Kingston H, Dawson T, DeGoede CG, Nixon J, Boland A, Deleuze JF, Romero N, Newman WG, Demaurex N and Laporte J
Using spatio-temporal surveillance data to test the infectious environment of children before type 1 diabetes diagnosis
Bougneres P, Le Fur S, Valtat S, Kamatani Y, Lathrop M, Valleron AJ and Isis-Diab Collaborative G
Monocyte-Derived Dendritic Cells (MDDCs) from Spondyloarthritis (SpA) Patients Exhbit a Coordinated Downregulation of the Cholesterol (chol) Biosynthesis Pathway That Relates to Lipid Overload
Breban M, Desjardin C, Chaplais E, Talpin A, Costantino F, Hue C, Jobart-Malfait A, Maury B, Grassin-Delyle S, Bonilla N, Leboime A, Nahal RS, Letourneur F, Jacques S, Boland A, Deleuze JF, Chiocchia G and Garchon HJ
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype
Bruel AL, Bigoni S, Kennedy J, Whiteford M, Buxton C, Parmeggiani G, Wherlock M, Woodward G, Greenslade M, Williams M, St-Onge J, Ferlini A, Garani G, Ballardini E, van Bon BW, Acuna-Hidalgo R, Bohring A, Deleuze JF, Boland A, Meyer V, Olaso R, Ginglinger E, Riviere JB, Brunner HG, Hoischen A, Newbury-Ecob R, Faivre L, Thauvin-Robinet C, Thevenon J and Study DDD
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes
Bruel AL, Franco B, Duffourd Y, Thevenon J, Jego L, Lopez E, Deleuze JF, Doummar D, Giles RH, Johnson CA, Huynen MA, Chevrier V, Burglen L, Morleo M, Desguerres I, Pierquin G, Doray B, Gilbert-Dussardier B, Reversade B, Steichen-Gersdorf E, Baumann C, Panigrahi I, Fargeot-Espaliat A, Dieux A, David A, Goldenberg A, Bongers E, Gaillard D, Argente J, Aral B, Gigot N, St-Onge J, Birnbaum D, Phadke SR, Cormier-Daire V, Eguether T, Pazour GJ, Herranz-Perez V, Goldstein JS, Pasquier L, Loget P, Saunier S, Megarbane A, Rosnet O, Leroux MR, Wallingford JB, Blacque OE, Nachury MV, Attie-Bitach T, Riviere JB, Faivre L and Thauvin-Robinet C
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, Vlieg AV, Germain M, Roussel R, Marre M, Debette S, Amouyel P, Deleuze JF, Hadjadj S, Rosendaal FR, Morangen 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
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
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
Identification and characterization of two functional variants in the human longevity gene FOXO3
Flachsbart F, Dose J, Gentschew L, Geismann C, Caliebe A, Knecht C, Nygaard M, Badarinarayan N, ElSharawy A, May S, Luzius A, Torres GG, Jentzsch M, Forster M, Haesler R, Pallauf K, Lieb W, Derbois C, Galan P, Drichel D, Arlt A, Till A, Krause-Kyora B, Rimbach G, Blanche H, Deleuze JF, Christiansen L, Christensen K, Nothnagel M, Rosenstiel P, Schreiber S, Franke A, Sebens S and Nebel A
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, Grenaker Alnaes GI, Riis ML, Helland A, Hautaniemi S, Lonning PE, Naume B, Borresen-Dale AL, Tost J and Kristensen VN
DNA methylation at enhancers identifies distinct breast cancer lineages
Fleischer T, Tekpli X, Mathelier A, Wang S, Nebdal D, Dhakal HP, Sahlberg KK, Schlichting E, Borresen-Dale AL, Borgen E, Naume B, Eskeland R, Frigessi A, Tost J, Hurtado A 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
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
Major improvement in the detection of microsatellite instability in colorectal cancer using HSP110 T17 E-ice-COLD-PCR
How-Kit A, Daunay A, Buhard O, Meiller C, Sahbatou M, Collura A, Duval A and Deleuze JF
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, 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
Recessive myopalladin mutations cause congenital cap myopathy with unusual rods
Malfatti E, Lornage X, Cheraud C, Schneider R, Biancalana V, Cuisset J, Garibaldi M, Eymard B, Fardeau M, Boland A, Deleuze J, Thompson J, Bohm J, Romero N and Laporte J
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
Novel recessive splice site mutation in POPDC1 (BVES) is associated with first-degree atrioventricular block and muscular dystrophy
Nelson I, Beuvin M, Ben-Yaou R, Masson C, Boland A, Schindler R, Brand T, Eymard B and Bonne G
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
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients
Neto OA, Moreno CDM, 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
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 LMA, Rakotomalala MM, Razafiarivony M, Rasoarifetra B, Raharijesy MA, Razafindralambo L, Ramilisonina, Fanony F, Lejamble S, Thomas O, Abdallah AM, Rocher C, Arachiche A, Tonaso L, Pereda-loth V, Schiavinato S, Brucato N, Ricaut FX, Kusuma P, Sudoyo H, Ni SY, Boland A, Deleuze JF, Beaujard P, Grange P, Adelaar S, Stoneking M, Rakotoarisoa JA, Radimilahy C and Letellier T
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
aCNViewer: Comprehensive genome-wide visualization of absolute copy number and copy neutral variations
Renault V, Tost J, Pichon F, Wang-Renault SF, Letouze E, Imbeaud S, Zucman-Rossi J, Deleuze JF and How-Kit A
Molecular and cellular causes of severe heterotopia: identifying new genes playing a key role in radial glial cells
Romero D, Bahi-Buisson N, Poirier K, Chelly J, Deleuze JF and Francis F
Journal of Neurochemistry 142 (), 142, 2017
TNFR2(+) Regulatory T CELLS (Tregs) Subpopulations Are Highly Suppressive And Are Increased On Anti-Tnf Treatment In Rheaumtoid Arthrtis (RA) Patients
Santinon F, Batignes M, Salomon B, Tost J, Busato F, Decker P, Boissier MC, Semerano L and Bessis N
Cytokine 100 (), 43, 2017
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
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