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Publications du CNRGH

CNRGH publications
Publié le 21 juin 2018
Impact of pre- and post-variant filtration strategies on imputation
Charon C, Allodji R, Meyer V and Deleuze JF
Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations
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 profiling
Dalmasso C, Derbois C, Veyssiere M, Olaso R, Lamacchia C, Alpizar-Rodriguez D, Deleuze JF, Finckh A and Petit-Teixeira E
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome
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
Comprehensive miRNome-Wide Profiling in a Neuronal Cell Model of Synucleinopathy Implies Involvement of Cell Cycle Genes
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 (), , 2021
The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD
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 22q11.23
Garnier S, Harakalova M, Weiss S, Mokry M, Regitz-Zagrosek V, Hengstenberg C, Cappola TP, Isnard R, Arbustini E, Cook SA, van Setten J, Calis JJA, Hakonarson H, Morley MP, Stark K, Prasad SK, Li J, O'Regan DP, Grasso M, Muller-Nurasyid M, Meitinger T, Empana JP, Strauch K, Waldenberger M, Marguiles KB, Seidman CE, Kararigas G, Meder B, Haas J, Boutouyrie P, Lacolley P, Jouven X, Erdmann J, Blankenberg S, Wichter T, Ruppert V, Tavazzi L, Dubourg O, Roizes G, Dorent R, de Groote P, Fauchier L, Trochu JN, Aupetit JF, Bilinska ZT, Germain M, Volker U, Hemerich D, Raji I, Bacq-Daian D, Proust C, Remior P, Gomez-Bueno M, Lehnert K, Maas R, Olaso R, Saripella GV, Felix SB, McGinn S, Duboscq-Bidot L, van Mil A, Besse C, Fontaine V, Blanche H, Ader F, Keating B, Curjol A, Boland A, Komajda M, Cambien F, Deleuze JF, Dorr M, Asselbergs FW, Villard E, Tregouet DA and Charron P
Whole exome sequencing, a hypothesis-free approach to investigate recurrent early miscarriage
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 Polynesians
Guibon J, Sugier PE, Kulkarni O, Karimi M, Bacq-Daian D, Besse C, Boland A, Adjadj E, Rachedi F, Rubino C, Xhaard C, Mulot C, Laurent-Puig P, Guizard AV, Schvartz C, Ortiz RM, Ren Y, Ostroumova E, Deleuze JF, Boutron-Ruault MC, Kesminiene A, Vathaire F, Guenel P, Lesueur F and Truong T
Genome-wide haplotype association study in imaging genetics using whole-brain sulcal openings of 16,304 UK Biobank subjects
Karkar S, Dandine-Roulland C, Mangin JF, Le Guen Y, Philippe C, Deleuze JF, Pierre-Jean M, Le Floch E and Frouin V
Sexual Dimorphism in Cancer: Insights from Transcriptional Signatures in Kidney Tissue and Renal Cell Carcinoma
Laskar RS, Li P, Ecsedi S, Abedi-Ardekani B, Durand G, Robinot N, Hubert JN, Janout V, Zaridze D, Mukeria A, Mates D, Holcatova I, Foretova L, Swiatkowska B, Dzamic Z, Milosavljevic S, Olaso R, Boland A, Deleuze JF, Muller DC, McKay JD, Brennan P, Le Calvez-Kelm F, Scelo G and Chanudet E
Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy
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 diabetes
Lytrivi M, Senee V, Salpea P, Fantuzzi F, Philippi A, Abdulkarim B, Sawatani T, Marin-Canas S, Pachera N, Degavre A, Singh P, Derbois C, Lechner D, Ladriere L, Igoillo-Esteve M, Cosentino C, Marselli L, Deleuze JF, Marchetti P, Eizirik DL, Nicolino M, Chaussenot A, Julier C and Cnop M
Using RNA-seq to Assess Off-Target Effects of Antisense Oligonucleotides in Human Cell Lines
Michel S, Schirduan K, Shen Y, Klar R, Tost J and Jaschinski F
Analysis and annotation of DNA methylation in two nonhuman primate species using the Infinium Human Methylation 450K and EPIC BeadChips
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 evaluation
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
Trained Immunity in Atherosclerotic Cardiovascular Disease
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), E63-E71, 2021
Heterogeneous Hunter-Gatherer and Steppe-Related Ancestries in Late Neolithic and Bell Beaker Genomes from Present-Day France
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
Exome-wide association study identifies FN3KRP and PGP as new candidate longevity genes
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 consortium
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
Circulating miRNAs as Biomarker in Cancer
Andersen GB and Tost J
The Importance Of Naturally Attenuated Sars-Cov-2 In The Fight Against Covid-19
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 plan
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 diseases
Baskara-Yhuellou I and Tost J
Insights into human genetic variation and population history from 929 diverse genomes
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 regulation
Bis JC, Jian X, Kunkle BW, Chen Y, Hamilton-Nelson KL, Bush WS, Salerno WJ, Lancour D, Ma Y, Renton AE, Marcora E, Farrell JJ, Zhao Y, Qu L, Ahmad S, Amin N, Amouyel P, Beecham GW, Below JE, Campion D, 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 regulation
Bis JC, Jian X, Kunkle BW, Chen Y, Hamilton-Nelson KL, Bush WS, Salerno WJ, Lancour D, Ma Y, Renton AE, Marcora E, Farrell JJ, Zhao Y, Qu L, Ahmad S, Amin N, Amouyel P, Beecham GW, Below JE, Campion D, 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 Element
Cassinari K, Rovelet-Lecrux A, Tury S, Quenez O, Richard AC, Charbonnier C, Olaso R, Boland A, Deleuze JF, Besancenot JF, Delpont B, Pouliquen D, Lecoquierre F, Chambon P, Thauvin-Robinet C, Campion D, Frebourg T, Battini JL and Nicolas G
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability
Chevarin M, Duffourd Y, R AB, Moutton S, Lecoquierre F, Daoud F, Kuentz P, Cabret C, Thevenon J, Gautier E, Callier P, St-Onge J, Jouan T, Lacombe D, Delrue MA, Goizet C, Morice-Picard F, Van-Gils J, Munnich A, Lyonnet S, Cormier-Daire V, Baujat G, Holder M, Petit F, Leheup B, Odent S, Jouk PS, Lopez G, Genevieve D, Collignon P, Martin-Coignard D, Jacquette A, Perrin L, Putoux A, Sarrazin E, Amarof K, Missotte I, Coubes C, Jagadeesh S, Lapi E, Demurger F, Goldenberg A, Doco-Fenzy M, Mignot C, Heron D, Jean-Marcais N, Masurel A, El Chehadeh S, Marle N, Huet F, Binquet C, Collod-Beroud G, Arnaud P, Hanna N, Boileau C, Jondeau G, Olaso R, Lechner D, Poe C, Assoum M, Carmignac V, Duplomb L, Tran Mau-Them F, Philippe C, Vitobello A, Bruel AL, Boland A, Deleuze JF, Thauvin-Robinet C, Riviere JB, O'Roak BJ and Faivre L
Pan-cancer analysis of whole genomes
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 genes
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 Considerations
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 (4-5), 207-208, 2020
Developmental Methylome of the Medicinal PlantCatharanthus roseusUnravels the Tissue-Specific Control of the Monoterpene Indole Alkaloid Pathway by DNA Methylation
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 individuals
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 humans
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 Isoforms
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 morphology
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 cohort
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 Cohort
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 Perspective
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 promoter
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 therapy
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 failure
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 asthma
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 Vietnam
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 perspectives
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 use
Husson T, Lecoquierre F, Cassinari K, Charbonnier C, Quenez O, Goldenberg A, Guerrot AM, Richard AC, Drouin-Garraud V, Brehin AC, Soleimani M, Taton R, Rotharmel M, Rosier A, Chambon P, Le Meur N, Joly-Helas G, Saugier-Veber P, Boland A, Deleuze JF, Olaso R, Frebourg T, Nicolas G, Guillin O and Campion D
DNA methylation changes in metabolic and immune-regulatory pathways in blood and lymph node CD4 + T cells in response to SIV infections
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 allergy
Kabesch M and Tost J
PLCG2 protective variant p.P522R modulates tau pathology and disease progression in patients with mild cognitive impairment
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 Disease
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 stress
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 codone
Labrouche-Colomer S, Soukarieh O, Proust C, Mouton C, Huguenin Y, Roux M, Besse C, Boland A, Olaso R, Constans J, Deleuze JF, Morange PE, Jaspard-Vinassa B, Tregouet DA and GenMed C
Prediction of Breast Cancer Treatment-Induced Fatigue by Machine Learning Using Genome-Wide Association Data
Lee S, Deasy JO, Oh JH, Di Meglio A, Dumas A, Menvielle G, Charles C, Boyault S, Rousseau M, Besse C, Thomas E, Boland A, Cottu P, Tredan O, Levy C, Martin AL, Everhard S, Ganz PA, Partridge AH, Michiels S, Deleuze JF, Andre F and Vaz-Luis I
Asymmetric muscle weakness due to ACTA1 mosaic mutations
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 DNA
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 transfer
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 Sahul
Pedro N, Brucato N, Fernandes V, Andre M, Saag L, Pomat W, Besse C, Boland A, Deleuze JF, Clarkson C, Sudoyo H, Metspalu M, Stoneking M, Cox MP, Leavesley M, Pereira L and Ricaut FX
Clustering and variable selection evaluation of 13 unsupervised methods for multi-omics data integration
Pierre-Jean M, Deleuze JF, Le Floch E and Mauger F
Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia
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 regions
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 genes
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 patients
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 4
Sanchez E, Laplace-Builhe B, Mau-Them FT, Richard E, Goldenberg A, Toler TL, Guignard T, Gatinois V, Vincent M, Blanchet C, Boland A, Bihoreau MT, Deleuze JF, Olaso R, Nephi W, Ludecke HJ, Verheij J, Moreau-Lenoir F, Denoyelle F, Riviere JB, Laplanche JL, Willing M, Captier G, Apparailly F, Wieczorek D, Collet C, Djouad F and Genevieve D
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 Arthritis
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
RA-map: building a state-of-the-art interactive knowledge base for rheumatoid arthritis
Singh V, Kalliolias GD, Ostaszewski M, Veyssiere M, Pilalis E, Gawron P, Mazein A, Bonnet E, Petit-Teixeira E and Niarakis A
Loss of fragile X mental retardation protein precedes Lewy pathology in Parkinson's disease
Tan Y, Sgobio C, Arzberger T, Machleid F, Tang Q, Findeis E, Tost J, Chakroun T, Gao P, Hollerhage M, Botzel K, Herms J, Hoglinger G and Koeglsperger T
A new genetic locus for antipsychotic-induced weight gain: A genome-wide study of first-episode psychosis patients using amisulpride (from the OPTiMiSE cohort)
Ter Hark SE, Jamain S, Schijven D, Lin BD, Bakker MK, Boland-Auge A, Deleuze JF, Troudet R, Malhotra AK, Guloksuz S, Vinkers CH, Ebdrup BH, Kahn RS, Leboyer M and Luykx JJ
Bayesian network analysis of plasma microRNA sequencing data in patients with venous thrombosis
Thibord F, Munsch G, Perret C, Suchon P, Roux M, Ibrahim-Kosta M, Goumidi L, Deleuze JF, Morange PE and Tregouet DA
10 years of Epigenomics: a journey with the epigenetic community through exciting times
Tost J
Strengthening epithelial barriers through modulation of the histone code in allergic diseases - a novel approach for preventing the atopic march?
Tost J
Gene expression and response prediction to amisulpride in the OPTiMiSE first episode psychoses
Troudet R, Ali WBH, Bacq-Daian D, Rossum IWV, Boland-Auge A, Battail C, Barau C, Rujescu D, McGuire P, Kahn RS, Deleuze JF, Leboyer M and Jamain S
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing
Uggenti C, Lepelley A, Depp M, Badrock AP, Rodero MP, El-Daher MT, Rice GI, Dhir S, Wheeler AP, Dhir A, Albawardi W, Fremond ML, Seabra L, Doig J, Blair N, Martin-Niclos MJ, Della Mina E, Rubio-Roldan A, Garcia-Perez JL, Sproul D, Rehwinkel J, Hertzog J, Boland-Auge A, Olaso R, Deleuze JF, Baruteau J, Brochard K, Buckley J, Cavallera V, Cereda C, De Waele LMH, Dobbie A, Doummar D, Elmslie F, Koch-Hogrebe M, Kumar R, Lamb K, Livingston JH, Majumdar A, Lorenco CM, Orcesi S, Peudenier S, Rostasy K, Salmon CA, Scott C, Tonduti D, Touati G, Valente M, van der Linden H, Jr., Van Esch H, Vermelle M, Webb K, Jackson AP, Reijns MAM, Gilbert N and Crow YJ
Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization
Uguen K, Jubin C, Duffourd Y, Bardel C, Malan V, Dupont JM, El Khattabi L, Chatron N, Vitobello A, Rollat-Farnier PA, Baulard C, Lelorch M, Leduc A, Tisserant E, Mau-Them FT, Danjean V, Delepine M, Till M, Meyer V, Lyonnet S, Mosca-Boidron AL, Thevenon J, Faivre L, Thauvin-Robinet C, Schluth-Bolard C, Boland A, Olaso R, Callier P, Romana S, Deleuze JF and Sanlaville D
A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies
Viollet LM, Swoboda KJ, Mao R, Best H, Ha Y, Toutain A, Guyant-Marechal L, Laroche-Raynaud C, Ghorab K, Barthez MA, Pedespan JM, Hernandorena X, Lia AS, Deleuze JF, Masson C, Nelson I, Nectoux J and Si Y
Circadian genes polymorphisms, night work and prostate cancer risk: findings from the EPICAP study
Wendeu-Foyet MG, Cenee S, Koudou Y, Tretarre B, Rebillard X, Cancel-Tassin G, Cussenot O, Boland A, Olaso R, Deleuze JF, Blanche H, Lamy PJ, Mulot C, Laurent-Puig P, Truong T and Menegaux F
Tumor DNA hypomethylation of LINE-1 is associated with low tumor grade of breast cancer in Tunisian patients
Zeggar HR, How-Kit A, Daunay A, Bettaieb I, Sahbatou M, Rahal K, Adouni O, Gammoudi A, Douik H, Deleuze JF and Kharrat M
A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1
Ame van der Beek N, Nelson I, Froissart R, Levade T, Garcia V, Lacene E, Boland A, Masson C, Romero NB, Stojkovic T, Bonne G and Behin A
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation
Balak C, Benard M, Schaefer E, Iqbal S, Ramsey K, Ernoult-Lange M, Mattioli F, Llaci L, Geoffroy V, Courel M, Naymik M, Bachman KK, Pfundt R, Rump P, Ter Beest J, Wentzensen IM, Monaghan KG, McWalter K, Richholt R, Le Bechec A, Jepsen W, De Both M, Belnap N, Boland A, Piras IS, Deleuze JF, Szelinger S, Dollfus H, Chelly J, Muller J, Campbell A, Lal D, Rangasamy S, Mandel JL, Narayanan V, Huentelman M, Weil D and Piton A
Expression of miRNAs from the Imprinted DLK1/DIO3 Locus Signals the Osteogenic Potential of Human Pluripotent Stem Cells
Barrault L, Gide J, Qing T, Lesueur L, Tost J, Denis JA, Cailleret M, Aubry L, Peschanski M, Martinat C and Baghdoyan S
RRAD mutation causes electrical and cytoskeletal defects in cardiomyocytes derived from a familial case of Brugada syndrome
Belbachir N, Portero V, Al Sayed ZR, Gourraud JB, Dilasser F, Jesel L, Guo H, Wu H, Gaborit N, Guilluy C, Girardeau A, Bonnaud S, Simonet F, Karakachoff M, Pattier S, Scott C, Burel S, Marionneau C, Chariau C, Gaignerie A, David L, Genin E, Deleuze JF, Dina C, Sauzeau V, Loirand G, Baro I, Schott JJ, Probst V, Wu JC, Redon R, Charpentier F and Le Scouarnec S
Investigation of candidate gene copy number identifies FCGR3B as a potential biomarker for rheumatoid arthritis
Ben Kilani MS, Cornelis F, Olaso R, Chaudru V and Petit-Teixeira E
Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures
Bohm J, Malfatti E, Oates E, Jones K, Brochier G, Boland A, Deleuze JF, Romero NB and Laporte J
Copy Number Variants in miR-138 as a Potential Risk Factor for Early-Onset Alzheimer's Disease
Boscher E, Husson T, Quenez O, Laquerriere A, Marguet F, Cassinari K, Wallon D, Martinaud O, Charbonnier C, Nicolas G, Deleuze JF, Boland A, Lathrop M, Frebourg T, Campion D, Hebert SS and Rovelet-Lecrux A
Evidence of Austronesian Genetic Lineages in East Africa and South Arabia: Complex Dispersal from Madagascar and Southeast Asia
Brucato N, Fernandes V, Kusuma P, Cerny V, Mulligan CJ, Soares P, Rito T, Besse C, Boland A, Deleuze JF, Cox MP, Sudoyo H, Stoneking M, Pereira L and Ricaut FX
Glucocorticoids delay RAF-induced senescence promoted by EGR1
Carvalho C, L'Hote V, Courbeyrette R, Kratassiouk G, Pinna G, Cintrat JC, Denby-Wilkes C, Derbois C, Olaso R, Deleuze JF, Mann C and Thuret JY
A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations
Cassinari K, Quenez O, Joly-Helas G, Beaussire L, Le Meur N, Castelain M, Goldenberg A, Guerrot AM, Brehin AC, Deleuze JF, Boland A, Rovelet-Lecrux A, Campion D, Saugier-Veber P, Gruchy N, Frebourg T, Nicolas G, Sarafan-Vasseur N and Chambon P
Evaluation of six blood-based age prediction models using DNA methylation analysis by pyrosequencing
Daunay A, Baudrin LG, Deleuze JF and How-Kit A
Low temperature isothermal amplification of microsatellites drastically reduces stutter artifact formation and improves microsatellite instability detection in cancer
Daunay A, Duval A, Baudrin LG, Buhard O, Renault V, Deleuze JF and How-Kit A
Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
De Ridder W, Nelson I, Asselbergh B, De Paepe B, Beuvin M, Ben Yaou R, Masson C, Boland A, Deleuze JF, Maisonobe T, Eymard B, Symoens S, Schindler R, Brand T, Johnson K, Topf A, Straub V, De Jonghe P, De Bleecker JL, Bonne G and Baets J
A meta-analysis of genome-wide association studies identifies multiple longevity genes
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
Demethylation by low-dose 5-aza-2'-deoxycytidine impairs 3D melanoma invasion partially through miR-199a-3p expression revealing the role of this miR in melanoma
Desjobert C, Carrier A, Delmas A, Marzese DM, Daunay A, Busato F, Pillon A, Tost J, Riond J, Favre G, Etievant C and Arimondo PB
The Impact of Genetic Variations in ADORA2A in the Association between Caffeine Consumption and Sleep
Erblang M, Drogou C, Gomez-Merino D, Metlaine A, Boland A, Deleuze JF, Thomas C, Sauvet F and Chennaoui M
Learning Differential Module Networks Across Multiple Experimental Conditions
Erola P, Bonnet E and Michoel T
Mitochondrial ncRNA targeting induces cell cycle arrest and tumor growth inhibition of MDA-MB-231 breast cancer cells through reduction of key cell cycle progression factors
Fitzpatrick C, Bendek MF, Briones M, Farfan N, Silva VA, Nardocci G, Montecino M, Boland A, Deleuze JF, Villegas J, Villota C, Silva V, Lobos-Gonzalez L, Borgna V, Barrey E, Burzio LO and Burzio VA
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3
Florian RT, Kraft F, Leitao E, Kaya S, Klebe S, Magnin E, van Rootselaar AF, Buratti J, Kuhnel T, Schroder C, Giesselmann S, Tschernoster N, Altmueller J, Lamiral A, Keren B, Nava C, Bouteiller D, Forlani S, Jornea L, Kubica R, Ye T, Plassard D, Jost B, Meyer V, Deleuze JF, Delpu Y, Avarello MDM, Vijfhuizen LS, Rudolf G, Hirsch E, Kroes T, Reif PS, Rosenow F, Ganos C, Vidailhet M, Thivard L, Mathieu A, Bourgeron T, Kurth I, Rafehi H, Steenpass L, Horsthemke B, LeGuern E, Klein KM, Labauge P, Bennett MF, Bahlo M, Gecz J, Corbett MA, Tijssen MAJ, van den Maagdenberg A and Depienne C
Deregulation of microRNA expression in monocytes and CD4(+) T lymphocytes from patients with axial spondyloarthritis
Fogel O, Bugge Tinggaard A, Fagny M, Sigrist N, Roche E, Leclere L, Deleuze JF, Batteux F, Dougados M, Miceli-Richard C and Tost J
KLF4 inhibition promotes the expansion of keratinocyte precursors from adult human skin and of embryonic-stem-cell-derived keratinocytes
Fortunel NO, Chadli L, Coutier J, Lemaitre G, Auvre F, Domingues S, Bouissou-Cadio E, Vaigot P, Cavallero S, Deleuze JF, Romeo PH and Martin MT
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing
Girard E, Eon-Marchais S, Olaso R, Renault AL, Damiola F, Dondon MG, Barjhoux L, Goidin D, Meyer V, Le Gal D, Beauvallet J, Mebirouk N, Lonjou C, Coignard J, Marcou M, Cavaciuti E, Baulard C, Bihoreau MT, Cohen-Haguenauer O, Leroux D, Penet C, Fert-Ferrer S, Colas C, Frebourg T, Eisinger F, Adenis C, Fajac A, Gladieff L, Tinat J, Floquet A, Chiesa J, Giraud S, Mortemousque I, Soubrier F, Audebert-Bellanger S, Limacher JM, Lasset C, Lejeune-Dumoulin S, Dreyfus H, Bignon YJ, Longy M, Pujol P, Venat-Bouvet L, Bonadona V, Berthet P, Luporsi E, Maugard CM, Nogues C, Delnatte C, Fricker JP, Gesta P, Faivre L, Lortholary A, Buecher B, Caron O, Gauthier-Villars M, Coupier I, Servant N, Boland A, Mazoyer S, Deleuze JF, Stoppa-Lyonnet D, Andrieu N and Lesueur F
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