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CNRGH publications

Published on 21 June 2018
  
Crosstalk between microRNA expression and DNA methylation drives the hormone-dependent phenotype of breast cancerNew
Aure MR, Fleischer T, Bjorklund S, Ankill J, Castro-Mondragon JA, Osbreac, Borresen-Dale AL, Tost J, Sahlberg KK, Mathelier A, Tekpli X and Kristensen VN
CD4(+) T-cell DNA methylation changes during pregnancy significantly correlate with disease-associated methylation changes in autoimmune diseasesNew
Badam TV, Hellberg S, Mehta RB, Lechner-Scott J, Lea RA, Tost J, Mariette X, Svensson-Arvelund J, Nestor CE, Benson M, Berg G, Jenmalm MC, Gustafsson M and Ernerudh J
Fine Scale Population Structure in France and its Implications on Whole-Genome Association TestsNew
Bocher O, Ludwig T, Deleuze JF, Morange PE, Tregouet DA and Genin E
Human Heredity 85 (2), 73-73, 2021
Region-specific expression of young small-scale duplications in the human central nervous systemNew
Brohard-Julien S, Frouin V, Meyer V, Chalabi S, Deleuze JF, Le Floch E and Battail C
Papua New Guinean genomes reveal the complex settlement of north SahulNew
Brucato N, Andre M, Tsang R, Saag L, Kariwiga J, Sesuki K, Beni T, Pomat W, Muke J, Meyer V, Boland A, Deleuze JF, Sudoyo H, Mondal M, Pagani L, Romero IG, Metspalu M, Cox MP, Leavesley M and Ricaut FX
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalitiesNew
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 abnormalitiesNew
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
Antibody status and cumulative incidence of SARS-CoV-2 infection among adults in three regions of France following the first lockdown and associated risk factors: a multicohort studyNew
Carrat F, de Lamballerie X, Rahib D, Blanche H, Lapidus N, Artaud F, Kab S, Renuy A, de Edelenyi FS, Meyer L, Lydie N, Charles MA, Ancel PY, Jusot F, Rouquette A, Priet S, Villarroel PMS, Fourie T, Lusivika-Nzinga C, Nicol J, Legot S, Druesne-Pecollo N, Esseddik Y, Lai C, Gagliolo JM, Deleuze JF, Bajos N, Severi G, Touvier M, Zins M, Sapris and groups S-Ss
Corrigendum to: Antibody status and cumulative incidence of SARS-CoV-2 infection among adults in three regions of France following the first lockdown and associated risk factors: a multicohort studyNew
Carrat F, de Lamballerie X, Rahib D, Blanche H, Lapidus N, Artaud F, Kab S, Renuy A, Szabo de Edelenyi F, Meyer L, Lydie N, Charles MA, Ancel PY, Jusot F, Rouquette A, Priet S, Saba Villarroel PM, Fourie T, Lusivika-Nzinga C, Nicol J, Legot S, Druesne-Pecollo N, Esseddik Y, Lai C, Gagliolo JM, Deleuze JF, Bajos N, Severi G, Touvier M and Zins M
Impact of pre- and post-variant filtration strategies on imputationNew
Charon C, Allodji R, Meyer V and Deleuze JF
Publisher Correction: Impact of pre- and post-variant filtration strategies on imputationNew
Charon C, Allodji R, Meyer V and Deleuze JF
Genomic insights into population history and biological adaptation in OceaniaNew
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
A form of muscular dystrophy associated with pathogenic variants in JAG2New
Coppens S, Barnard AM, Puusepp S, Pajasalu S, Ounap K, Vargas-Franco D, Bruels CC, Donkervoort S, Pais L, Chao KR, Goodrich JK, England EM, Weisburd B, Ganesh VS, Gudmundsson S, O'Donnell-Luria A, Nigul M, Ilves P, Mohassel P, Siddique T, Milone M, Nicolau S, Maroofian R, Houlden H, Hanna MG, Quinlivan R, Beiraghi Toosi M, Ghayoor Karimiani E, Costagliola S, Deconinck N, Kadhim H, Macke E, Lanpher BC, Klee EW, Lusakowska A, Kostera-Pruszczyk A, Hahn A, Schrank B, Nishino I, Ogasawara M, El Sherif R, Stojkovic T, Nelson I, Bonne G, Cohen E, Boland-Auge A, Deleuze JF, Meng Y, Topf A, Vilain C, Pacak CA, Rivera-Zengotita ML, Bonnemann CG, Straub V, Handford PA, Draper I, Walter GA and Kang PB
Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutationsNew
Coursimault J, Lecoquierre F, Saugier-Veber P, Drouin-Garraud V, Lechevallier J, Boland A, Deleuze JF, Frebourg T, Nicolas G and Brehin AC
Identification of biological pathways specific to phases preceding rheumatoid arthritis development through gene expression profilingNew
Dalmasso C, Derbois C, Veyssiere M, Olaso R, Lamacchia C, Alpizar-Rodriguez D, Deleuze JF, Finckh A and Petit-Teixeira E
Publisher Correction: A meta-analysis of genome-wide association studies identifies multiple longevity genesNew
Deelen J, Evans DS, Arking DE, Tesi N, Nygaard M, Liu X, Wojczynski MK, Biggs ML, van der Spek A, Atzmon G, Ware EB, Sarnowski C, Smith AV, Seppala I, Cordell HJ, Dose J, Amin N, Arnold AM, Ayers KL, Barzilai N, Becker EJ, Beekman M, Blanche H, Christensen K, Christiansen L, Collerton JC, Cubaynes S, Cummings SR, Davies K, Debrabant B, Deleuze JF, Duncan R, Faul JD, Franceschi C, Galan P, Gudnason V, Harris TB, Huisman M, Hurme MA, Jagger C, Jansen I, Jylha M, Kahonen M, Karasik D, Kardia SLR, Kingston A, Kirkwood TBL, Launer LJ, Lehtimaki T, Lieb W, Lyytikainen LP, Martin-Ruiz C, Min J, Nebel A, Newman AB, Nie C, Nohr EA, Orwoll ES, Perls TT, Province MA, Psaty BM, Raitakari OT, Reinders MJT, Robine JM, Rotter JI, Sebastiani P, Smith J, Sorensen TIA, Taylor KD, Uitterlinden AG, van der Flier W, van der Lee SJ, van Duijn CM, van Heemst D, Vaupel JW, Weir D, Ye K, Zeng Y, Zheng W, Holstege H, Kiel DP, Lunetta KL, Slagboom PE and Murabito JM
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndromeNew
Delvallee C, Nicaise S, Antin M, Leuvrey AS, Nourisson E, Leitch CC, Kellaris G, Stoetzel C, Geoffroy V, Scheidecker S, Keren B, Depienne C, Klar J, Dahl N, Deleuze JF, Genin E, Redon R, Demurger F, Devriendt K, Mathieu-Dramard M, Poitou-Bernert C, Odent S, Katsanis N, Mandel JL, Davis EE, Dollfus H and Muller J
Gender specific airway gene expression in COPD sub-phenotypes supports a role of mitochondria and of different types of leukocytesNew
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
Placental DNA methylation signatures of maternal smoking during pregnancy and potential impacts on fetal growthNew
Everson TM, Vives-Usano M, Seyve E, Cardenas A, Lacasana M, Craig JM, Lesseur C, Baker ER, Fernandez-Jimenez N, Heude B, Perron P, Gonzalez-Alzaga B, Halliday J, Deyssenroth MA, Karagas MR, Iniguez C, Bouchard L, Carmona-Saez P, Loke YJ, Hao K, Belmonte T, Charles MA, Martorell-Marugan J, Muggli E, Chen J, Fernandez MF, Tost J, Gomez-Martin A, London SJ, Sunyer J, Marsit CJ, Lepeule J, Hivert MF and Bustamante M
Comprehensive miRNome-Wide Profiling in a Neuronal Cell Model of Synucleinopathy Implies Involvement of Cell Cycle GenesNew
Findeiss E, Schwarz SC, Evsyukov V, Rosler TW, Hollerhage M, Chakroun T, Nykanen NP, Shen YM, Wurst W, Kohl M, Tost J and Hoglinger GU
Frontiers in Cell and Developmental Biology 9 (), 561086, 2021
Heterogeneity of SARS-CoV-2 virus produced in cell culture revealed by shotgun proteomics and supported by genome sequencingNew
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
The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMDNew
Gargaun E, Falcone S, Sole G, Durigneux J, Urtizberea A, Cuisset JM, Benkhelifa-Ziyyat S, Julien L, Boland A, Sandron F, Meyer V, Deleuze JF, Salgado D, Desvignes JP, Beroud C, Chessel A, Blesius A, Krahn M, Levy N, Leturcq F and Pietri-Rouxel F
Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23New
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 estimationNew
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
Whole exome sequencing, a hypothesis-free approach to investigate recurrent early miscarriageNew
Gourhant L, Bocher O, De Saint Martin L, Ludwig TE, Boland A, Deleuze JF, Merviel P, Dupre PF, Lemarie CA, Couturaud F, Le Marechal C, Genin E and Pasquier E
Fine-mapping of two differentiated thyroid carcinoma susceptibility loci at 2q35 and 8p12 in Europeans, Melanesians and PolynesiansNew
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
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDHNew
Hathazi D, Cox D, D'Amico A, Tasca G, Charlton R, Carlier RY, Baumann J, Kollipara L, Zahedi RP, Feldmann I, Deleuze JF, Torella A, Cohn R, Robinson E, Ricci F, Jungbluth H, Fattori F, Boland A, O'Connor E, Horvath R, Barresi R, Lochmuller H, Urtizberea A, Jacquemont ML, Nelson I, Swan L, Bonne G and Roos A
Evaluation of saliva as a source of accurate whole-genome and microbiome sequencing dataNew
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
Integrated genomic analysis identifies driver genes and cisplatin-resistant progenitor phenotype in pediatric liver cancerNew
Hirsch TZ, Pilet J, Morcrette G, Roehrig A, Monteiro BJ, Molina L, Bayard Q, Trepo E, Meunier L, Caruso S, Renault V, Deleuze JF, Fresneau B, Chardot C, Gonzales E, Jacquemin E, Guerin F, Fabre M, Aerts I, Taque S, Laithier V, Branchereau S, Guettier C, Brugieres L, Rebouissou S, Letouze E and Zucman-Rossi J
The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell CarcinomaNew
Hubert JN, Suybeng V, Vallee M, Delhomme TM, Maubec E, Boland A, Bacq D, Deleuze JF, Jouenne F, Brennan P, McKay JD, Avril MF, Bressac-de Paillerets B and Chanudet E
Transcriptome Analysis of Monocyte-Derived Dendritic Cells from Spondyloarthritis (Spa) Patients Reveals a Major Impact of B27 on Gene ExpressionNew
Hulot A, Jobart-Malfait A, Jolly A, Desjardin C, Chaplais E, Talpin A, Costantino F, Hue C, Grassin-Delyle S, Leboime A, Nahal RS, Boland A, Deleuze JF, Breban M and Garchon HJ
Clinical and Experimental Rheumatology 39 (5), 1197-1197, 2021
Pregnancy exposure to synthetic phenols and placental DNA methylation - An epigenome-wide association study in male infants from the EDEN cohortNew
Jedynak P, Tost J, Calafat AM, Bourova-Flin E, Busato F, Forhan A, Heude B, Jakobi M, Rousseaux S, Schwartz J, Slama R, Vaiman D, Philippat C and Lepeule J
Genome-wide haplotype association study in imaging genetics using whole-brain sulcal openings of 16,304 UK Biobank subjectsNew
Karkar S, Dandine-Roulland C, Mangin JF, Le Guen Y, Philippe C, Deleuze JF, Pierre-Jean M, Le Floch E and Frouin V
Monocyte transcriptomes from patients with axial spondyloarthritis reveal dysregulated monocytopoiesis and a distinct inflammatory imprintNew
Karow F, Smiljanovic B, Grun JR, Poddubnyy D, Proft F, Talpin A, Hue C, Boland A, Deleuze JF, Garchon HJ, Ergenc I, De Craemer AS, Erben U, Haupl T, Elewaut D, Breban M, Grutzkau A and Syrbe U
No methylome differences observed in IVF children born after embryo culture in different culture mediaNew
Koeck R, Tost J, Busato F, Consten D, Van Echten-Arends J, Mastenbroek S, Wurth Y, Zandstra H, Van Golde R, Dumoulin J, Brunner H, Esteki MZ and Van Montfoort A
Gene network and biological pathways associated with susceptibility to differentiated thyroid carcinomaNew
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 CarcinomaNew
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
Association between dietary patterns reflecting one-carbon metabolism nutrients intake before pregnancy and placental DNA methylationNew
Lecorguille M, Charles MA, Lepeule J, Lioret S, de Lauzon-Guillain B, Forhan A, Tost J, Suderman M and Heude B
Distinct functional classes of PDGFRB pathogenic variants in primary familial brain calcificationNew
Lenglez S, Sablon A, Fenelon G, Boland A, Deleuze JF, Boutoleau-Bretonniere C, Nicolas G and Demoulin JB
Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathyNew
Lornage X, Mallaret M, Silva-Rojas R, Biancalana V, Giovannini D, Dieterich K, Saker S, Deleuze JF, Wuyam B, Laporte J and Bohm J
DNAJC3 deficiency induces beta-cell mitochondrial apoptosis and causes syndromic young-onset diabetesNew
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
Using RNA-seq to Assess Off-Target Effects of Antisense Oligonucleotides in Human Cell LinesNew
Michel S, Schirduan K, Shen Y, Klar R, Tost J and Jaschinski F
Different Pigmentation Risk Loci for High-Risk Monosomy 3 and Low-Risk Disomy 3 Uveal MelanomasNew
Mobuchon L, Derrien AC, Houy A, Verrier T, Pierron G, Cassoux N, Milder M, Deleuze JF, Boland A, Scelo G, Cancel-Tassin G, Cussenot O, Rodrigues M, Noirel J, Machiela MJ and Stern MH
Analysis and annotation of DNA methylation in two nonhuman primate species using the Infinium Human Methylation 450K and EPIC BeadChipsNew
Pichon F, Shen YM, Busato F, Jochems SP, Jacquelin B, Le Grand R, Deleuze JF, Muller-Trutwin M and Tost J
Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluationNew
Quenez O, Cassinari K, Coutant S, Lecoquierre F, Le Guennec K, Rousseau S, Richard AC, Vasseur S, Bouvignies E, Bou J, Lienard G, Manase S, Fourneaux S, Drouot N, Nguyen-Viet V, Vezain M, Chambon P, Joly-Helas G, Le Meur N, Castelain M, Boland A, Deleuze JF, Tournier I, Charbonnier F, Kasper E, Bougeard G, Frebourg T, Saugier-Veber P, Baert-Desurmont S, Campion D, Rovelet-Lecrux A and Nicolas G
An artificial neural network approach integrating plasma proteomics and genetic data identifies PLXNA4 as a new susceptibility locus for pulmonary embolismNew
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
Phenotypic Differences Between Polygenic and Monogenic HypobetalipoproteinemiaNew
Rimbert A, Vanhoye X, Coulibaly D, Marrec M, Pichelin M, Charriere S, Peretti N, Valero R, Wargny M, Carrie A, Lindenbaum P, Deleuze JF, Genin E, Redon R, Rollat-Farnier PA, Goxe D, Degraef G, Marmontel O, Divry E, Bigot-Corbel E, Moulin P, Cariou B and Di Filippo M
Trained Immunity in Atherosclerotic Cardiovascular DiseaseNew
Rimbert A, Vanhoye X, Coulibaly D, Marrec M, Pichelin M, Charriere S, Peretti N, Valero R, Wargny M, Carrie A, Lindenbaum P, Deleuze JF, Genin E, Redon R, Rollat-Farnier PA, Goxe D, Degraef G, Marmontel O, Divry E, Bigot-Corbel E, Moulin P, Cariou B and Di Filippo M
Arteriosclerosis, Thrombosis, and Vascular Biology 41 (1), 62-69, 2021
Heterogeneous Hunter-Gatherer and Steppe-Related Ancestries in Late Neolithic and Bell Beaker Genomes from Present-Day FranceNew
Seguin-Orlando A, Donat R, Der Sarkissian C, Southon J, Theves C, Manen C, Tcheremissinoff Y, Crubezy E, Shapiro B, Deleuze JF, Dalen L, Guilaine J and Orlando L
RNAi suppression of DNA methylation affects the drought stress response and genome integrity in transgenic poplarNew
Sow MD, Le Gac AL, Fichot R, Lanciano S, Delaunay A, Le Jan I, Lesage-Descauses MC, Citerne S, Caius J, Brunaud V, Soubigou-Taconnat L, Cochard H, Segura V, Chaparro C, Grunau C, Daviaud C, Tost J, Brignolas F, Strauss SH, Mirouze M and Maury S
Exome-wide association study identifies FN3KRP and PGP as new candidate longevity genesNew
Torres GG, Nygaard M, Caliebe A, Blanche H, Chantalat S, Galan P, Lieb W, Christiansen L, Deleuze JF, Christensen K, Strauch K, Muller-Nurasyid M, Peters A, Nothen MM, Hoffmann P, Flachsbart F, Schreiber S, Ellinghaus D, Franke A, Dose J and Nebel A
Multiethnic genome-wide association study of differentiated thyroid cancer in the EPITHYR consortiumNew
Truong T, Lesueur F, Sugier PE, Guibon J, Xhaard C, Karimi M, Kulkarni O, Lucotte EA, Bacq-Daian D, Boland-Auge A, Mulot C, Laurent-Puig P, Schvartz C, Guizard AV, Ren Y, Adjadj E, Rachedi F, Borson-Chazot F, Ortiz RM, Lence-Anta JJ, Pereda CM, Comiskey DF, Jr., He H, Liyanarachchi S, de la Chapelle A, Elisei R, Gemignani F, Thomsen H, Forsti A, Herzig AF, Leutenegger AL, Rubino C, Ostroumova E, Kesminiene A, Boutron-Ruault MC, Deleuze JF, Guenel P and de Vathaire F
Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephalyNew
Uguen K, Krysiak K, Audebert-Bellanger S, Redon S, Benech C, Viora-Dupont E, Tran Mau-Them F, Rondeau S, Elsharkawi I, Granadillo JL, Neidich J, Soares CA, Tkachenko N, S MA, Engleman K, Boland A, Deleuze JF, Bezieau S, Odent S, Toutain A, Bonneau D, Gilbert-Dussardier B, Faivre L, Rio M, Le Marechal C, Ferec C, Repnikova E and Cao Y
Role of DNA repair variants and diagnostic radiology exams in differentiated thyroid cancer risk: a pooled-analysis of two case-control studiesNew
Zidane M, Truong T, Lesueur F, Xhaard C, Cordina-Duverger E, Boland A, Blanche H, Ory C, Chevillard S, Deleuze JF, Souchard V, Ren Y, Zemmache MZ, Canale S, Borson-Chazot F, Schvartz C, Marine Barjoan E, Guizard AV, Laurent-Puig P, Mulot C, Guibon J, Karimi M, Schlumberger M, Adjadj E, Rubino C, Guenel P, Cazier JB and de Vathaire F
Circulating miRNAs as Biomarker in CancerNew
Andersen GB and Tost J
The Importance Of Naturally Attenuated Sars-Cov-2 In The Fight Against Covid-19New
Armengaud J, Delaunay-Moisan A, Thuret JY, van Anken E, Acosta-Alvear D, Aragon T, Arias C, Blondel M, Braakman I, Collet JF, Courcol R, Danchin A, Deleuze JF, Lavigne JP, Lucas S, Michiels T, Moore ERB, Nixon-Abell J, Rossello-Mora R, Shi Z, Siccardi AG, Sitia R, Tillett D, Timmis KN, Toledano MB, van der Sluijs P and Vicenzi E
Feasibility of high-throughput sequencing in clinical routine cancer care: lessons from the cancer pilot project of the France Genomic Medicine 2025 planNew
Auzanneau C, Bacq D, Bellera C, Blons H, Boland A, Boucheix M, Bourdon A, Chollet E, Chomienne C, Deleuze JF, Delmas C, Dinart D, Esperou H, Geillon F, Geneste D, Italiano A, Jean D, Khalifa E, Laizet Y, Laurent-Puig P, Lethimonnier F, Levy-Marchal C, Lucchesi C, Malle C, Mancini P, Mathoulin-Pelissier S, Meyer V, Palomares M-A, Perkins G, Sellan-Albert S, Soubeyran I and Wallet C
The impact of microRNAs on alterations of gene regulatory networks in allergic diseasesNew
Baskara-Yhuellou I and Tost J
Insights into human genetic variation and population history from 929 diverse genomesNew
Bergstrom A, McCarthy SA, Hui RY, Almarri MA, Ayub Q, Danecek P, Chen Y, Felkel S, Hallast P, Kamm J, Blanche H, Deleuze JF, Cann H, Mallick S, Reich D, Sandhu MS, Skoglund P, Scally A, Xue YL, Durbin R and Tyler-Smith C
Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulationNew
Bis JC, Jian X, Kunkle BW, Chen Y, Hamilton-Nelson KL, Bush WS, Salerno WJ, Lancour D, Ma Y, Renton AE, Marcora E, Farrell JJ, Zhao Y, Qu L, Ahmad S, Amin N, Amouyel P, Beecham GW, Below JE, Campion D, Cantwell L, Charbonnier C, Chung J, Crane PK, Cruchaga C, Cupples LA, Dartigues JF, Debette S, Deleuze JF, Fulton L, Gabriel SB, Genin E, Gibbs RA, Goate A, Grenier-Boley B, Gupta N, Haines JL, Havulinna AS, Helisalmi S, Hiltunen M, Howrigan DP, Ikram MA, Kaprio J, Konrad J, Kuzma A, Lander ES, Lathrop M, Lehtimaki T, Lin H, Mattila K, Mayeux R, Muzny DM, Nasser W, Neale B, Nho K, Nicolas G, Patel D, Pericak-Vance MA, Perola M, Psaty BM, Quenez O, Rajabli F, Redon R, Reitz C, Remes AM, Salomaa V, Sarnowski C, Schmidt H, Schmidt M, Schmidt R, Soininen H, Thornton TA, Tosto G, Tzourio C, van der Lee SJ, van Duijn CM, Valladares O, Vardarajan B, Wang LS, Wang W, Wijsman E, Wilson RK, Witten D, Worley KC, Zhang X, Bellenguez C, Lambert JC, Kurki MI, Palotie A, Daly M, Boerwinkle E, Lunetta KL, Destefano AL, Dupuis J, Martin ER, Schellenberg GD, Seshadri S, Naj AC, Fornage M and Farrer LA
Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulationNew
Bis JC, Jian X, Kunkle BW, Chen Y, Hamilton-Nelson KL, Bush WS, Salerno WJ, Lancour D, Ma Y, Renton AE, Marcora E, Farrell JJ, Zhao Y, Qu L, Ahmad S, Amin N, Amouyel P, Beecham GW, Below JE, Campion D, Cantwell L, Charbonnier C, Chung J, Crane PK, Cruchaga C, Cupples LA, Dartigues JF, Debette S, Deleuze JF, Fulton L, Gabriel SB, Genin E, Gibbs RA, Goate A, Grenier-Boley B, Gupta N, Haines JL, Havulinna AS, Helisalmi S, Hiltunen M, Howrigan DP, Ikram MA, Kaprio J, Konrad J, Kuzma A, Lander ES, Lathrop M, Lehtimaki T, Lin H, Mattila K, Mayeux R, Muzny DM, Nasser W, Neale B, Nho K, Nicolas G, Patel D, Pericak-Vance MA, Perola M, Psaty BM, Quenez O, Rajabli F, Redon R, Reitz C, Remes AM, Salomaa V, Sarnowski C, Schmidt H, Schmidt M, Schmidt R, Soininen H, Thornton TA, Tosto G, Tzourio C, van der Lee SJ, van Duijn CM, Valladares O, Vardarajan B, Wang LS, Wang W, Wijsman E, Wilson RK, Witten D, Worley KC, Zhang X, Bellenguez C, Lambert JC, Kurki MI, Palotie A, Daly M, Boerwinkle E, Lunetta KL, Destefano AL, Dupuis J, Martin ER, Schellenberg GD, Seshadri S, Naj AC, Fornage M and Farrer LA
Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory ElementNew
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 disabilityNew
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
Pan-cancer analysis of whole genomesNew
Consortium TITP-CAoWG
Nature 578 (7793), 82-93, 2020
Multi-omic analysis of gametogenesis reveals a novel signature at the promoters and distal enhancers of active genesNew
Crespo M, Damont A, Blanco M, Lastrucci E, Kennani SE, Ialy-Radio C, Khattabi LE, Terrier S, Louwagie M, Kieffer-Jaquinod S, Hesse AM, Bruley C, Chantalat S, Govin J, Fenaille F, Battail C, Cocquet J and Pflieger D
Use of External Controls for Whole Genome Sequencing Data - Quality Control ConsiderationsNew
Dandine-Roulland C, Resch L, Sandron F, Sahbatou M, Bacq-Daian D, Blanche H, Meyer V, Deleuze JF and Le Floch E
Human Heredity 84 (44320), 207-208, 2020
Developmental Methylome of the Medicinal PlantCatharanthus roseusUnravels the Tissue-Specific Control of the Monoterpene Indole Alkaloid Pathway by DNA MethylationNew
de Bernonville TD, Maury S, Delaunay A, Daviaud C, Chaparro C, Tost J, O'Connor SE and Courdavault V
Association of a single nucleotide polymorphism in the ubxn6 gene with long-term non-progression phenotype in HIV-positive individualsNew
Diez-Fuertes F, De La Torre-Tarazona HE, Calonge E, Pernas M, Bermejo M, Garcia-Perez J, Alvarez A, Capa L, Garcia-Garcia F, Saumoy M, Riera M, Boland-Auge A, Lopez-Galindez C, Lathrop M, Dopazo J, Sakuntabhai A and Alcami J
Genotyping on blood and buccal cells using loop-mediated isothermal amplification in healthy humansNew
Drogou C, Sauvet F, Erblang M, Detemmerman L, Derbois C, Erkel MC, Boland A, Deleuze JF, Gomez-Merino D and Chennaoui M
Molecular Mechanisms of Trophoblast Dysfunction Mediated by Imbalance between STOX1 IsoformsNew
Ducat A, Couderc B, Bouter A, Biquard L, Aouache R, Passet B, Doridot L, Cohen MB, Ribaux P, Apicella C, Gaillard I, Palfray S, Chen YL, Vargas A, Jule A, Frelin L, Cocquet J, San Martin CR, Jacques S, Busato F, Tost J, Mehats C, Laissue P, Vilotte JL, Miralles F and Vaiman D
Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphologyNew
Elouej S, Harhouri K, Mao ML, Baujat G, Nampoothiri S, Kayserili H, Menabawy NA, Selim L, Paneque AL, Kubisch C, Lessel D, Rubinsztajn R, Charar C, Bartoli C, Airault C, Deleuze JF, Rotig A, Bauer P, Pereira C, Loh A, Escande-Beillard N, Muchir A, Martino L, Gruenbaum Y, Lee SH, Manivet P, Lenaers G, Reversade B, Levy N and De Sandre-Giovannoli A
Circulating plasma proteins and new-onset diabetes in a population-based study: proteomic and genomic insights from the STANISLAS cohortNew
Ferreira JP, Lamiral Z, Xhaard C, Duarte K, Bresso E, Devignes MD, Le Floch E, Roulland CD, Deleuze JF, Wagner S, Guerci B, Girerd N, Zannad F, Boivin JM and Rossignol P
PCSK9 Protein and rs562556 Polymorphism Are Associated With Arterial Plaques in Healthy Middle-Aged Population: The STANISLAS CohortNew
Ferreira JP, Xhaard C, Lamiral Z, Borges-Canha M, Neves JS, Dandine-Roulland C, LeFloch E, Deleuze JF, Bacq-Daian D, Bozec E, Girerd N, Boivin JM, Zannad F and Rossignol P
Exploring the Link Between Additive Heritability and Prediction Accuracy From a Ridge Regression PerspectiveNew
Frouin A, Dandine-Roulland C, Pierre-Jean M, Deleuze JF, Ambroise C and Le Floch E
Improvements and inter-laboratory implementation and optimization of blood-based single-locus age prediction models using DNA methylation of the ELOVL2 promoterNew
Garali I, Sahbatou M, Daunay A, Baudrin LG, Renault V, Bouyacoub Y, Deleuze JF and How-Kit A
Phenotype and genotype characterization as predictors of DMD 45 to 55 multi-exon skipping therapyNew
Gargaun E, Bassez G, Wahbi K, Ben Yaou R, Guibaud M, Sole G, Tiffreau V, Laforet P, Parent M, Husson M, Urtizberea A, Eymard B, Boland A, Deleuze J, Salgado D, Khran M, Levy N, Blesius A, Leturcq F and Pietri-Rouxel F
Neuromuscular Disorders 30 (), S81-S81, 2020
Genome wide association analysis in dilated cardiomyopathy revealed two new susceptibility loci for systolic heart failureNew
Garnier S, Harakalova M, Weiss S, Mokry M, van Setten J, Proust C, Duboscq-Bidot L, Boland A, Deleuze J, Dorr M, Asselbergs F, Cambien F, Villard E, Tregouet D and Charron P
Blood eosinophil count and airway epithelial transcriptome relationships in COPD versus asthmaNew
George L, Taylor AR, Esteve-Codina A, Soler Artigas M, Thun GA, Bates S, Pavlidis S, Wagers S, Boland A, Prasse A, Boschetto P, Parr DG, Nowinski A, Barta I, Hohlfeld J, Greulich T, van den Berge M, Hiemstra PS, Timens W, Hinks T, Wenzel S, Siddiqui S, Richardson M, Venge P, Heath S, Gut I, Tobin MD, Edwards L, Riley JH, Djukanovic R, Auffray C, De-Meulder B, Erik-Dahlen S, Adcock IM, Chung KF, Ziegler-Heitbrock L, Sterk PJ, Singh D and Brightling CE
Family-based genome-wide association study of leprosy in VietnamNew
Gzara C, Dallmann-Sauer M, Orlovam M, Thuc NV, Thai VH, Fava VM, Bihoreau MT, Boland A, Abel L, Alcais A, Schurr E and Cobat A
Predictive molecular pathology in non-small cell lung cancer in France: The past, the present and the perspectivesNew
Hofman P, Rouleau E, Sabourin JC, Denis M, Deleuze JF, Barlesi F and Laurent-Puig P
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical useNew
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
DNA methylation changes in metabolic and immune-regulatory pathways in blood and lymph node CD4 + T cells in response to SIV infectionsNew
Jochems SP, Jacquelin B, Tchitchek N, Busato F, Pichon F, Huot N, Liu Y, Ploquin MJ, Roche E, Cheynier R, Dereuddre-Bosquet N, Stahl-Henning C, Le Grand R, Tost J and Muller-Trutwin M
Recent findings in the genetics and epigenetics of asthma and allergyNew
Kabesch M and Tost J
PLCG2 protective variant p.P522R modulates tau pathology and disease progression in patients with mild cognitive impairmentNew
Kleineidam L, Chouraki V, Prochnicki T, van der Lee SJ, Madrid-Marquez L, Wagner-Thelen H, Karaca I, Weinhold L, Wolfsgruber S, Boland A, Martino Adami PV, Lewczuk P, Popp J, Brosseron F, Jansen IE, Hulsman M, Kornhuber J, Peters O, Berr C, Heun R, Frolich L, Tzourio C, Dartigues JF, Hull M, Espinosa A, Hernandez I, de Rojas I, Orellana A, Valero S, Stringa N, van Schoor NM, Huisman M, Scheltens P, Ruther E, Deleuze JF, Wiltfang J, Tarraga L, Schmid M, Scherer M, Riedel-Heller S, Heneka MT, Amouyel P, Jessen F, Boada M, Maier W, Schneider A, Gonzalez-Perez A, van der Flier WM, Wagner M, Lambert JC, Holstege H, Saez ME, Latz E, Ruiz A and Ramirez A
Loss of Fragile X Mental Retardation Protein (Fmrp) Precedes Lewy Pathology in Parkinson's DiseaseNew
Koeglsperger T, Tan Y, Sgobio C, Arzberger T, Machleid F, Tang Q, Findeis E, Tost J, Chakroun T, Gao P, Hollerhage M, Botzel K, Herms J and Hoglinger G
Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stressNew
Kroll-Hermi A, Ebstein F, Stoetzel C, Geoffroy V, Schaefer E, Scheidecker S, Bar S, Takamiya M, Kawakami K, Zieba BA, Studer F, Pelletier V, Speeg-Schatz C, Laugel V, Lipsker D, Sandron F, McGinn S, Boland A, Deleuze JF, Kuhn L, Chicher J, Hammann P, Friant S, Etard C, Kruger E, Muller J, Strahle U and Dollfus H
A novel rare c.-39C > T mutation in the PROS1 5 ' UTR causing PS deficiency by creating a new upstream translation initiation codoneNew
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 DataNew
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
Asymmetric muscle weakness due to ACTA1 mosaic mutationsNew
Lornage X, Quijano-Roy S, Amthor H, Carlier RY, Monnier N, Deleuze JF, Romero NB, Laporte J and Bohm J
Comparison of commercially available whole-genome sequencing kits for variant detection in circulating cell-free DNANew
Mauger F, Horgues C, Pierre-Jean M, Oussada N, Mesrob L and Deleuze JF
Extracellular vesicles from myelodysplastic mesenchymal stromal cells induce DNA damage and mutagenesis of hematopoietic stem cells through miRNA transferNew
Meunier M, Guttin A, Ancelet S, Laurin D, Zannoni J, Lefebvre C, Tondeur S, Persoons V, Pezet M, Pernet-Gallay K, Chuffart F, Rousseaux S, Testard Q, Thevenon J, Jouzier C, Deleuze JF, Laulagnier K, Sadoul R, Chatellard C, Hainaut P, Polack B, Cahn JY, Issartel JP and Park S
Papuan mitochondrial genomes and the settlement of SahulNew
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
Clustering and variable selection evaluation of 13 unsupervised methods for multi-omics data integrationNew
Pierre-Jean M, Deleuze JF, Le Floch E and Mauger F
Phenotypic Differences Between Polygenic and Monogenic HypobetalipoproteinemiaNew
Rimbert A, Vanhoye X, Coulibaly D, Marrec M, Pichelin M, Charriere S, Peretti N, Valero R, Wargny M, Carrie A, Lindenbaum P, Deleuze JF, Genin E, Redon R, Rollat-Farnier PA, Goxe D, Degraef G, Marmontel O, Divry E, Bigot-Corbel E, Moulin P, Cariou B and Di Filippo M
Immediate and durable effects of maternal tobacco consumption alter placental DNA methylation in enhancer and imprinted gene-containing regionsNew
Rousseaux S, Seyve E, Chuffart F, Bourova-Flin E, Benmerad M, Charles MA, Forhan A, Heude B, Siroux V, Slama R, Tost J, Vaiman D, Khochbin S, Lepeule J and Grp EM-CCS
Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genesNew
Rudolf G, de Bellescize J, de Saint Martin A, Arzimanoglou A, Valenti Hirsch MP, Labalme A, Boulay C, Simonet T, Boland A, Deleuze JF, Nitschke P, Ollivier E, Sanlaville D, Hirsch E, Chelly J and Lesca G
Epigenetic modulation of AREL1 and increased HLA expression in brains of multiple system atrophy patientsNew
Rydbirk R, Folke J, Busato F, Roche E, Chauhan AS, Lokkegaard A, Hejl AM, Bode M, Blaabjerg M, Moller M, Danielsen EH, Brudek T, Pakkenberg B, Tost J and Aznar S
POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4New
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
Involvement of Tumor Necrosis Factor Receptor Type II in FoxP3 Stability and as a Marker of Treg Cells Specifically Expanded by Anti-Tumor Necrosis Factor Treatments in Rheumatoid ArthritisNew
Santinon F, Batignes M, Mebrek ML, Biton JM, Clavel G, Herve R, Lemeiter D, Breckler M, Busato F, Tost J, Ziol M, Boissier MC, Decker P, Semerano L and Bessis N
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