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CNRGH publications

Published on 16 December 2021
  
MXD4/MAD4 Regulates Human Keratinocyte Precursor Fate
Coutier J, Auvre F, Lemaitre G, Lataillade JJ, Deleuze JF, Romeo PH, Martin MT and Fortunel NO
Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease
Jiao Y, Truong T, Eon-Marchais S, Mebirouk N, Caputo SM, Dondon MG, Karimi M, Le Gal D, Beauvallet J, Le Floch E, Dandine-Roulland C, Bacq-Daian D, Olaso R, Albuisson J, Audebert-Bellanger S, Berthet P, Bonadona V, Buecher B, Caron O, Cavaille M, Chiesa J, Colas C, Collonge-Rame MA, Coupier I, Delnatte C, De Pauw A, Dreyfus H, Fert-Ferrer S, Gauthier-Villars M, Gesta P, Giraud S, Gladieff L, Golmard L, Lasset C, Lejeune-Dumoulin S, Leone M, Limacher JM, Lortholary A, Luporsi E, Mari V, Maugard CM, Mortemousque I, Mouret-Fourme E, Nambot S, Nogues C, Popovici C, Prieur F, Pujol P, Sevenet N, Sobol H, Toulas C, Uhrhammer N, Vaur D, Venat L, Boland-Auge A, Guenel P, Deleuze JF, Stoppa-Lyonnet D, Andrieu N and Lesueur F
Reactive astrocytes promote proteostasis in Huntington's disease through the JAK2-STAT3 pathway
Abjean L, Ben Haim L, Riquelme-Perez M, Gipchtein P, Derbois C, Palomares MA, Petit F, Herard AS, Gaillard MC, Guillermier M, Gaudin-Guerif M, Auregan G, Sagar N, Hery C, Dufour N, Robil N, Kabani M, Melki R, De la Grange P, Bemelmans AP, Bonvento G, Deleuze JF, Hantraye P, Flament J, Bonnet E, Brohard S, Olaso R, Brouillet E, Carrillo-de Sauvage MA and Escartin C
Intranasal administration of Acinetobacter lwoffii in a murine model of asthma induces IL-6-mediated protection associated with caecal microbiota changes
Alhamwe BA, Gao Z, Alhamdan F, Harb H, Pichene M, Garnier A, El Andari J, Kaufmann A, Graumann PL, Kesper D, Daviaud C, Garn H, Tost J, Potaczek DP, Blaser MJ and Renz H
The loss of biodiversity in Madagascar is contemporaneous with major demographic events
Alva O, Leroy A, Heiske M, Pereda-Loth V, Tisseyre L, Boland A, Deleuze JF, Rocha J, Schlebusch C, Fortes-Lima C, Stoneking M, Radimilahy C, Rakotoarisoa JA, Letellier T and Pierron D
Fatty acid desaturase genetic variations and dietary omega-3 fatty acid intake associate with arterial stiffness
Back M, Xhaard C, Rouget R, Thuillier Q, Plunde O, Larsson SC, Girerd N, Ferreira JP, Boivin JM, Bozec E, Merckle L, Zannad F, Hoge A, Guillaume M, Dandine-Roulland C, Floch EL, Bacq-Daian D, Deleuze JF, Van den Berghe L, Nazare JA, Laville M, Branlant C, Behm-Ansmant I, Wagner S and Rossignol P
CD4(+) T-cell DNA methylation changes during pregnancy significantly correlate with disease-associated methylation changes in autoimmune diseases
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
New insights into the genetic etiology of Alzheimer's disease and related dementias
Bellenguez C, Kucukali F, Jansen IE, Kleineidam L, Moreno-Grau S, Amin N, Naj AC, Campos-Martin R, Grenier-Boley B, Andrade V, Holmans PA, Boland A, Damotte V, van der Lee SJ, Costa MR, Kuulasmaa T, Yang Q, de Rojas I, Bis JC, Yaqub A, Prokic I, Chapuis J, Ahmad S, Giedraitis V, Aarsland D, Garcia-Gonzalez P, Abdelnour C, Alarcon-Martin E, Alcolea D, Alegret M, Alvarez I, Alvarez V, Armstrong NJ, Tsolaki A, Antunez C, Appollonio I, Arcaro M, Archetti S, Pastor AA, Arosio B, Athanasiu L, Bailly H, Banaj N, Baquero M, Barral S, Beiser A, Pastor AB, Below JE, Benchek P, Benussi L, Berr C, Besse C, Bessi V, Binetti G, Bizarro A, Blesa R, Boada M, Boerwinkle E, Borroni B, Boschi S, Bossu P, Brathen G, Bressler J, Bresner C, Brodaty H, Brookes KJ, Brusco LI, Buiza-Rueda D, Burger K, Burholt V, Bush WS, Calero M, Cantwell LB, Chene G, Chung J, Cuccaro ML, Carracedo A, Cecchetti R, Cervera-Carles L, Charbonnier C, Chen HH, Chillotti C, Ciccone S, Claassen J, Clark C, Conti E, Corma-Gomez A, Costantini E, Custodero C, Daian D, Dalmasso MC, Daniele A, Dardiotis E, Dartigues JF, de Deyn PP, de Paiva Lopes K, de Witte LD, Debette S, Deckert J, Del Ser T, Denning N, DeStefano A, Dichgans M, Diehl-Schmid J, Diez-Fairen M, Rossi PD, Djurovic S, Duron E, Duzel E, Dufouil C, Eiriksdottir G, Engelborghs S, Escott-Price V, Espinosa A, Ewers M, Faber KM, Fabrizio T, Nielsen SF, Fardo DW, Farotti L, Fenoglio C, Fernandez-Fuertes M, Ferrari R, Ferreira CB, Ferri E, Fin B, Fischer P, Fladby T, Fliessbach K, Fongang B, Fornage M, Fortea J, Foroud TM, Fostinelli S, Fox NC, Franco-Macias E, Bullido MJ, Frank-Garcia A, Froelich L, Fulton-Howard B, Galimberti D, Garcia-Alberca JM, Garcia-Gonzalez P, Garcia-Madrona S, Garcia-Ribas G, Ghidoni R, Giegling I, Giorgio G, Goate AM, Goldhardt O, Gomez-Fonseca D, Gonzalez-Perez A, Graff C, Grande G, Green E, Grimmer T, Grunblatt E, Grunin M, Gudnason V, Guetta-Baranes T, Haapasalo A, Hadjigeorgiou G, Haines JL, Hamilton-Nelson KL, Hampel H, Hanon O, Hardy J, Hartmann AM, Hausner L, Harwood J, Heilmann-Heimbach S, Helisalmi S, Heneka MT, Hernandez I, Herrmann MJ, Hoffmann P, Holmes C, Holstege H, Vilas RH, Hulsman M, Humphrey J, Biessels GJ, Jian X, Johansson C, Jun GR, Kastumata Y, Kauwe J, Kehoe PG, Kilander L, Stahlbom AK, Kivipelto M, Koivisto A, Kornhuber J, Kosmidis MH, Kukull WA, Kuksa PP, Kunkle BW, Kuzma AB, Lage C, Laukka EJ, Launer L, Lauria A, Lee CY, Lehtisalo J, Lerch O, Lleo A, Longstreth W, Jr., Lopez O, de Munain AL, Love S, Lowemark M, Luckcuck L, Lunetta KL, Ma Y, Macias J, MacLeod CA, Maier W, Mangialasche F, Spallazzi M, Marquie M, Marshall R, Martin ER, Montes AM, Rodriguez CM, Masullo C, Mayeux R, Mead S, Mecocci P, Medina M, Meggy A, Mehrabian S, Mendoza S, Menendez-Gonzalez M, Mir P, Moebus S, Mol M, Molina-Porcel L, Montrreal L, Morelli L, Moreno F, Morgan K, Mosley T, Nothen MM, Muchnik C, Mukherjee S, Nacmias B, Ngandu T, Nicolas G, Nordestgaard BG, Olaso R, Orellana A, Orsini M, Ortega G, Padovani A, Paolo C, Papenberg G, Parnetti L, Pasquier F, Pastor P, Peloso G, Perez-Cordon A, Perez-Tur J, Pericard P, Peters O, Pijnenburg YAL, Pineda JA, Pinol-Ripoll G, Pisanu C, Polak T, Popp J, Posthuma D, Priller J, Puerta R, Quenez O, Quintela I, Thomassen JQ, Rabano A, Rainero I, Rajabli F, Ramakers I, Real LM, Reinders MJT, Reitz C, Reyes-Dumeyer D, Ridge P, Riedel-Heller S, Riederer P, Roberto N, Rodriguez-Rodriguez E, Rongve A, Allende IR, Rosende-Roca M, Royo JL, Rubino E, Rujescu D, Saez ME, Sakka P, Saltvedt I, Sanabria A, Sanchez-Arjona MB, Sanchez-Garcia F, Juan PS, Sanchez-Valle R, Sando SB, Sarnowski C, Satizabal CL, Scamosci M, Scarmeas N, Scarpini E, Scheltens P, Scherbaum N, Scherer M, Schmid M, Schneider A, Schott JM, Selbaek G, Seripa D, Serrano M, Sha J, Shadrin AA, Skrobot O, Slifer S, Snijders GJL, Soininen H, Solfrizzi V, Solomon A, Song Y, Sorbi S, Sotolongo-Grau O, Spalletta G, Spottke A, Squassina A, Stordal E, Tartan JP, Tarraga L, Tesi N, Thalamuthu A, Thomas T, Tosto G, Traykov L, Tremolizzo L, Tybjaerg-Hansen A, Uitterlinden A, Ullgren A, Ulstein I, Valero S, Valladares O, Broeckhoven CV, Vance J, Vardarajan BN, van der Lugt A, Dongen JV, van Rooij J, van Swieten J, Vandenberghe R, Verhey F, Vidal JS, Vogelgsang J, Vyhnalek M, Wagner M, Wallon D, Wang LS, Wang R, Weinhold L, Wiltfang J, Windle G, Woods B, Yannakoulia M, Zare H, Zhao Y, Zhang X, Zhu C, Zulaica M, Eadb, Gr@Ace, Degesco, Eadi, Gerad, Demgene, FinnGen, Adgc, Charge, Farrer LA, Psaty BM, Ghanbari M, Raj T, Sachdev P, Mather K, Jessen F, Ikram MA, de Mendonca A, Hort J, Tsolaki M, Pericak-Vance MA, Amouyel P, Williams J, Frikke-Schmidt R, Clarimon J, Deleuze JF, Rossi G, Seshadri S, Andreassen OA, Ingelsson M, Hiltunen M, Sleegers K, Schellenberg GD, van Duijn CM, Sims R, van der Flier WM, Ruiz A, Ramirez A and Lambert JC
Genome Sequencing for Genetics Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study
Binquet C, Lejeune C, Faivre L, Bouctot M, Asensio ML, Simon A, Deleuze JF, Boland A, Guillemin F, Seror V, Delmas C, Esperou H, Duffourd Y, Lyonnet S, Odent S, Heron D, Sanlaville D, Frebourg T, Gerard B and Dollfus H
Subtype and cell type specific expression of lncRNAs provide insight into breast cancer
Bjorklund SS, Aure MR, Hakkinen J, Vallon-Christersson J, Kumar S, Evensen KB, Fleischer T, Tost J, Osbreac, Sahlberg KK, Mathelier A, Bhanot G, Ganesan S, Tekpli X and Kristensen VN
Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score
Bocher O, Ludwig TE, Oglobinsky MS, Marenne G, Deleuze JF, Suryakant S, Odeberg J, Morange PE, Tregouet DA, Perdry H and Genin E
Screening for genetic modifying factors in Li-Fraumeni and heritable TP53-related cancer syndromes
Bougeard G, Coutant S, Charbonnier C, Bou J, Charbonnier F, Bouvignies E, Kasper E, Baert-Desurmont S, Houdayer C, Fin B, Boland A, Deleuze JF, Brugieres L, Tournier I and Frebourg T
European Journal of Human Genetics 30 (Suppl 1), 430-430, 2022
Maternal blood pressure associates with placental DNA methylation both directly and through alterations in cell-type composition
Broseus L, Vaiman D, Tost J, Martin CRS, Jacobi M, Schwartz JD, Beranger R, Slama R, Heude B and Lepeule J
Age, COVID-19-like symptoms and SARS-CoV-2 seropositivity profiles after the first wave of the pandemic in France
Carrat F, Lapidus N, Ninove L, Blanche H, Rahib D, Saba Villarroel PM, Touvier M, Severi G, Zins M, Deleuze JF, de Lamballerie X and group S-Ss
Heterogeneous SARS-CoV-2 humoral response after COVID-19 vaccination and/or infection in the general population
Carrat F, Villarroel PMS, Lapidus N, Fourie T, Blanche H, Dorival C, Nicol J, Deleuze JF, Robineau O, Group S-SS, Touvier M, Severi G, Zins M and de Lamballerie X
Publisher Correction: Heterogeneous SARS-CoV-2 humoral response after COVID-19 vaccination and/or infection in the general population
Carrat F, Villarroel PMS, Lapidus N, Fourie T, Blanche H, Dorival C, Nicol J, Deleuze JF, Robineau O, Group S-SS, Touvier M, Severi G, Zins M and de Lamballerie X
Epigenetically regulated PCDHB15 impairs aggressiveness of metastatic melanoma cells
Carrier A, Desjobert C, Lobjois V, Rigal L, Busato F, Tost J, Ensenyat-Mendez M, Marzese DM, Pradines A, Favre G, Lamant L, Lanfrancone L, Etievant C, Arimondo PB and Riond J
DNA methylome combined with chromosome cluster-oriented analysis provides an early signature for cutaneous melanoma aggressiveness
Carrier A, Desjobert C, Ponger L, Lamant L, Bustos M, Torres-Ferreira J, Henrique R, Jeronimo C, Lanfrancone L, Delmas A, Favre G, Daunay A, Busato F, Hoon DSB, Tost J, Etievant C, Riond J and Arimondo PB
Temporal Gene Expression Profiles Reflect the Dynamics of Lymphoid Differentiation
Chalabi S, Legrand A, Michaels V, Palomares MA, Olaso R, Boland A, Deleuze JF, Ezine S, Battail C and Tronik-Le Roux D
Typical clinical diagnosis and negative first-line molecular results: when genome sequencing and transcriptomics integration helps untangle unexplained rare Mendelian diseases
Colin E, Duffourd Y, Callier P, Tisserant E, Besnard T, Goldenberg A, Cogne B, Isidor B, Sorlin A, Moutton S, Delanne J, Bruel AL, Mau-Them FT, Denomme-Pichon AS, Fradin M, Dubourg C, Gorce M, El Chehadeh S, Debray FG, Fenzy MD, Uguen K, Boland A, Olaso R, Deleuze JF, Sanlaville D, Philippe C, Thauvin-Robinet C, Faivre L and Vitobello A
European Journal of Human Genetics 30 (Suppl 1), 356-357, 2022
OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants
Colin E, Duffourd Y, Tisserant E, Relator R, Bruel AL, Tran Mau-Them F, Denomme-Pichon AS, Safraou H, Delanne J, Jean-Marcais N, Keren B, Isidor B, Vincent M, Mignot C, Heron D, Afenjar A, Heide S, Faudet A, Charles P, Odent S, Herenger Y, Sorlin A, Moutton S, Kerkhof J, McConkey H, Chevarin M, Poe C, Couturier V, Bourgeois V, Callier P, Boland A, Olaso R, Philippe C, Sadikovic B, Thauvin-Robinet C, Faivre L, Deleuze JF and Vitobello A
A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature
Couloigner L, Planes M, Ka C, Audebert-Bellanger S, Redon S, Benech C, Rouault K, Kury S, Peudenier S, Autret S, Gourlaouen I, Bonneau D, Odent S, Bezieau S, Gilbert-Dussardier B, Toutain A, Boland A, Deleuze JF, Le Marechal C, Le Gac G, Ferec C and Uguen K
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients
Coursimault J, Cassinari K, Lecoquierre F, Quenez O, Coutant S, Derambure C, Vezain M, Drouot N, Vera G, Schaefer E, Philippe A, Doray B, Lambert L, Ghoumid J, Smol T, Rama M, Legendre M, Lacombe D, Maurin PF, Olaso R, Boland A, Deleuze JF, Goldenberg A, Saugier-Veber P and Nicolas G
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
Coursimault J, Guerrot AM, Morrow MM, Schramm C, Zamora FM, Shanmugham A, Liu S, Zou F, Bilan F, Le Guyader G, Bruel AL, Denomme-Pichon AS, Faivre L, Tran Mau-Them F, Tessarech M, Colin E, El Chehadeh S, Gerard B, Schaefer E, Cogne B, Isidor B, Nizon M, Doummar D, Valence S, Heron D, Keren B, Mignot C, Coutton C, Devillard F, Alaix AS, Amiel J, Colleaux L, Munnich A, Poirier K, Rio M, Rondeau S, Barcia G, Callewaert B, Dheedene A, Kumps C, Vergult S, Menten B, Chung WK, Hernan R, Larson A, Nori K, Stewart S, Wheless J, Kresge C, Pletcher BA, Caumes R, Smol T, Sigaudy S, Coubes C, Helm M, Smith R, Morrison J, Wheeler PG, Kritzer A, Jouret G, Afenjar A, Deleuze JF, Olaso R, Boland A, Poitou C, Frebourg T, Houdayer C, Saugier-Veber P, Nicolas G and Lecoquierre F
MXD4/MAD4 regulates human keratinocyte precursor fate
Coutier J, Auvre F, Lemaitre G, Lataillade JJ, Deleuze JF, Romeo PH, Martin MT and Fortunel NO
Centenarians consistently present a younger epigenetic age than their chronological age with four epigenetic clocks based on a small number of CpG sites
Daunay A, Hardy LM, Bouyacoub Y, Sahbatou M, Touvier M, Blanche H, Deleuze JF and How-Kit A
Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays
de la Morena-Barrio ME, Suchon P, Jacobsen EM, Iversen N, Minano A, de la Morena-Barrio B, Bravo-Perez C, Padilla J, Cifuentes R, Asenjo S, Deleuze JF, Tregouet DA, Lozano ML, Vicente V, Sandset PM, Morange PE and Corral J
Seroprevalence of SARS-CoV-2 IgG Antibodies and Factors Associated with SARS-CoV-2 IgG Neutralizing Activity among Primary Health Care Workers 6 Months after Vaccination Rollout in France
Decarreaux D, Pouquet M, Souty C, Vilcu AM, Prevot-Monsacre P, Fourie T, Villarroel PMS, Priet S, Blanche H, Sebaoun JM, Deleuze JF, Turbelin C, Werner A, Kochert F, Grosgogeat B, Rabiega P, Laupie J, Abraham N, Guerrisi C, Noel H, Van der Werf S, Carrat F, Hanslik T, Charrel R, De Lamballerie X, Blanchon T and Falchi A
Real-time genotyping-based breast cancer risk assessment in MyPeBS, an international randomized trial in the general population comparing risk-stratified to standard breast cancer screening (BCS)
Delaloge S, Rossi PG, Balleyguier C, Guindy M, Gilbert FJ, Burrion JB, Roman M, de Montgolfier S, Giordano L, Drubay D, Evans DG, Keatley D, Gauthier E, d'Aische AD, Baron C, Boland A, Blanche H, Couch D, Deleuze JF and Michiels S
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network
Denomme-Pichon AS, Vitobello A, Olaso R, Ziegler A, Jeanne M, Tran Mau-Them F, Couturier V, Racine C, Isidor B, Poe C, Jouan T, Boland A, Fin B, Bacq-Daian D, Besse C, Garde A, Prost A, Garret P, Tisserant E, Delanne J, Nambot S, Juven A, Gorce M, Nizon M, Vincent M, Moutton S, Fradin M, Lavillaureix A, Rollier P, Capri Y, Van-Gils J, Busa T, Sigaudy S, Pasquier L, Barth M, Bruel AL, Flamant C, Prouteau C, Bonneau D, Toutain A, Chantegret C, Callier P, Philippe C, Duffourd Y, Deleuze JF, Sorlin A, Faivre L and Thauvin-Robinet C
Relationship between genetic polymorphisms of cytokines and self-reported sleep complaints and habitual caffeine consumption
Drogou C, Erblang M, Metlaine A, Berot S, Derbois C, Olaso R, Boland A, Deleuze JF, Thomas C, Leger D, Chennaoui M, Sauvet F and Gomez-Merino D
Operational tolerance after hematopoietic stem cell transplantation is characterized by distinct transcriptional, phenotypic, and metabolic signatures
Dubouchet L, Todorov H, Seurinck R, Vallet N, Van Gassen S, Corneau A, Blanc C, Zouali H, Boland A, Deleuze JF, Ingram B, de Latour RP, Saeys Y, Socie G and Michonneau D
From Methylome to Integrative Analysis of Tissue Specificity
Duge de Bernonville T, Daviaud C, Chaparro C, Tost J and Maury S
A meta-analysis of pre-pregnancy maternal body mass index and placental DNA methylation identifies 27 CpG sites with implications for mother-child health
Fernandez-Jimenez N, Fore R, Cilleros-Portet A, Lepeule J, Perron P, Kvist T, Tian FY, Lesseur C, Binder AM, Lozano M, Martorell-Marugan J, Loke YJ, Bakulski KM, Zhu Y, Forhan A, Sammallahti S, Everson TM, Chen J, Michels KB, Belmonte T, Carmona-Saez P, Halliday J, Daniele Fallin M, LaSalle JM, Tost J, Czamara D, Fernandez MF, Gomez-Martin A, Craig JM, Gonzalez-Alzaga B, Schmidt RJ, Dou JF, Muggli E, Lacasana M, Vrijheid M, Marsit CJ, Karagas MR, Raikkonen K, Bouchard L, Heude B, Santa-Marina L, Bustamante M, Hivert MF and Bilbao JR
Genetic analysis of lung cancer and the germline impact on somatic mutation burden
Gabriel AAG, Atkins JR, Penha RCC, Smith-Byrne K, Gaborieau V, Voegele C, Abedi-Ardekani B, Milojevic M, Olaso R, Meyer V, Boland A, Deleuze JF, Zaridze D, Mukeriya A, Swiatkowska B, Janout V, Schejbalova M, Mates D, Stojsic J, Ognjanovic M, consortium I, Witte JS, Rashkin SR, Kachuri L, Hung RJ, Kar S, Brennan P, Sertier AS, Ferrari A, Viari A, Johansson M, Amos CI, Foll M and McKay JD
Author Correction: Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases
Georges A, Yang ML, Berrandou TE, Bakker MK, Dikilitas O, Kiando SR, Ma L, Satterfield BA, Sengupta S, Yu M, Deleuze JF, Dupre D, Hunker KL, Kyryachenko S, Liu L, Sayoud-Sadeg I, Amar L, Brummett CM, Coleman DM, d'Escamard V, de Leeuw P, Fendrikova-Mahlay N, Kadian-Dodov D, Li JZ, Lorthioir A, Pappaccogli M, Prejbisz A, Smigielski W, Stanley JC, Zawistowski M, Zhou X, Zollner S, investigators F, International Stroke Genetics Consortium Intracranial Aneurysm Working G, Megastroke, Amouyel P, De Buyzere ML, Debette S, Dobrowolski P, Drygas W, Gornik HL, Olin JW, Piwonski J, Rietzschel ER, Ruigrok YM, Vikkula M, Warchol Celinska E, Januszewicz A, Kullo IJ, Azizi M, Investigators A, Jeunemaitre X, Persu A, Kovacic JC, Ganesh SK and Bouatia-Naji N
A comparison of high-throughput SARS-CoV-2 sequencing methods from nasopharyngeal samples
Gerber Z, Daviaud C, Delafoy D, Sandron F, Alidjinou EK, Mercier J, Gerber S, Meyer V, Boland A, Bocket L, Olaso R and Deleuze JF
Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia
Ghaleb Y, Elbitar S, Philippi A, El Khoury P, Azar Y, Andrianirina M, Loste A, Abou-Khalil Y, Nicolas G, Le Borgne M, Moulin P, Di-Filippo M, Charriere S, Farnier M, Yelnick C, Carreau V, Ferrieres J, Lecerf JM, Derksen A, Bernard G, Gauthier MS, Coulombe B, Lutjohann D, Fin B, Boland A, Olaso R, Deleuze JF, Rabes JP, Boileau C, Abifadel M and Varret M
Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form associated genes provides new insights for molecular diagnosis and clinical management
Goudal A, Karakachoff M, Lindenbaum P, Baron E, Bonnaud S, Kyndt F, Arnaud M, Minois D, Bourcereau E, Thollet A, Deleuze JF, Genin E, Wiart F, Pasquie JL, Galand V, Sacher F, Dina C, Redon R, Bezieau S, Schott JJ, Probst V and Barc J
MOOC on Bioinformatics in Genomic Medicine (BiG MOOC)
Gouy E, Yauy K, Denomme-Pichon AS, Genin E, Lecoquierre F, Lermine A, Olaso R, Deleuze JF, Schutz S, de Tayrac M, Trimouille A, Collet G, Desplas X, Hobart F, Chotia A, Urbanczyk A, Palombi O, Pujol P, Genevieve D, Faivre L, Sanlaville D, Duffourd Y, Green A, Kenny J, Lynch SA, Wedderburn S, Carley H, Hugon A, Selatnia S, Vyshka K, Thevenon J, Verloes A and Comm E-IE
European Journal of Human Genetics 30 (Suppl 1), 567-567, 2022
Methylated ccfDNA from plasma biomarkers of Alzheimer's disease using targeted bisulfite sequencing
Guemri J, Pierre-Jean M, Brohard S, Oussada N, Horgues C, Bonnet E, Mauger F and Deleuze JF
Epigenomics 14 (8), 451-468, 2022
A high-throughput real-time PCR tissue-of-origin test to distinguish blood from lymphoblastoid cell line DNA for (epi)genomic studies
Hardy LM, Bouyacoub Y, Daunay A, Sahbatou M, Baudrin LG, Gressin L, Touvier M, Blanche H, Deleuze JF and How-Kit A
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease
Holstege H, Hulsman M, Charbonnier C, Grenier-Boley B, Quenez O, Grozeva D, van Rooij JGJ, Sims R, Ahmad S, Amin N, Norsworthy PJ, Dols-Icardo O, Hummerich H, Kawalia A, Amouyel P, Beecham GW, Berr C, Bis JC, Boland A, Bossu P, Bouwman F, Bras J, Campion D, Cochran JN, Daniele A, Dartigues JF, Debette S, Deleuze JF, Denning N, DeStefano AL, Farrer LA, Fernandez MV, Fox NC, Galimberti D, Genin E, Gille JJP, Le Guen Y, Guerreiro R, Haines JL, Holmes C, Ikram MA, Ikram MK, Jansen IE, Kraaij R, Lathrop M, Lemstra AW, Lleo A, Luckcuck L, Mannens M, Marshall R, Martin ER, Masullo C, Mayeux R, Mecocci P, Meggy A, Mol MO, Morgan K, Myers RM, Nacmias B, Naj AC, Napolioni V, Pasquier F, Pastor P, Pericak-Vance MA, Raybould R, Redon R, Reinders MJT, Richard AC, Riedel-Heller SG, Rivadeneira F, Rousseau S, Ryan NS, Saad S, Sanchez-Juan P, Schellenberg GD, Scheltens P, Schott JM, Seripa D, Seshadri S, Sie D, Sistermans EA, Sorbi S, van Spaendonk R, Spalletta G, Tesi N, Tijms B, Uitterlinden AG, van der Lee SJ, Visser PJ, Wagner M, Wallon D, Wang LS, Zarea A, Clarimon J, van Swieten JC, Greicius MD, Yokoyama JS, Cruchaga C, Hardy J, Ramirez A, Mead S, van der Flier WM, van Duijn CM, Williams J, Nicolas G, Bellenguez C and Lambert JC
Genome-wide meta-analysis for Alzheimer's disease cerebrospinal fluid biomarkers
Jansen RE, van der Lee SJ, Gomez-Fonseca D, de Rojas I, Dalmasso MC, Grenier-Boley B, Zettergren A, Mishra A, Ali M, Andrade V, Bellenguez C, Kleineidam L, Kucukali F, Sung YJ, Tesi N, Vromen EM, Wightman DP, Alcolea D, Alegret M, Alvarez I, Amouyel P, Athanasiu L, Bahrami S, Bailly H, Belbin O, Bergh S, Bertram L, Biessels GJ, Blennow K, Blesa R, Boada M, Boland A, Buerger K, Carracedo A, Cervera-Carles L, Chene G, Claassen J, Debette S, Deleuze JF, de Deyn PP, Diehl-Schmid J, Djurovic S, Dols-Icardo O, Dufouil C, Duron E, Duzel E, Fladby T, Fortea J, Frolich L, Garcia-Gonzalez P, Garcia-Martinez M, Giegling I, Goldhardt O, Gobom J, Grimmer T, Haapasalo A, Hampel H, Hanon O, Hausner L, Heilmann-Heimbach S, Helisalmi S, Heneka MT, Hernandez I, Herukka SK, Holstege H, Jarholm J, Kern S, Knapskog AB, Koivisto AM, Kornhuber J, Kuulasmaa T, Lage C, Laske C, Leinonen V, Lewczuk P, Lleo A, de Munain AL, Lopez-Garcia S, Maier W, Marquie M, Mol MO, Montrreal L, Moreno F, Moreno-Grau S, Nicolas G, Nothen MM, Orellana A, Palhaugen L, Papma JM, Pasquier F, Perneczky R, Peters O, Pijnenburg YAL, Popp J, Posthuma D, Pozueta A, Priller J, Puerta R, Quintela I, Ramakers I, Rodriguez-Rodriguez E, Rujescu D, Saltvedt I, Sanchez-Juan P, Scheltens P, Scherbaum N, Schmid M, Schneider A, Selbaek G, Selnes P, Shadrin A, Skoog I, Soininen H, Tarraga L, Teipel S, Tijms B, Tsolaki M, Van Broeckhoven C, Van Dongen J, van Swieten JC, Vandenberghe R, Vidal JS, Visser PJ, Vogelgsang J, Waern M, Wagner M, Wiltfang J, Wittens MMJ, Zetterberg H, Zulaica M, van Duijn CM, Bjerke M, Engelborghs S, Jessen F, Teunissen CE, Pastor P, Hiltunen M, Ingelsson M, Andreassen OA, Clarimon J, Sleegers K, Ruiz A, Ramirez A, Cruchaga C, Lambert JC and van der Flier W
Pregnancy exposure to phthalates and DNA methylation in male placenta - An epigenome-wide association study
Jedynak P, Tost J, Calafat AM, Bourova-Flin E, Broseus L, Busato F, Forhan A, Heude B, Jakobi M, Schwartz J, Slama R, Vaiman D, Lepeule J and Philippat C
Weak Association Between Genetic Markers of Hyperuricemia and Cardiorenal Outcomes: Insights From the STANISLAS Study Cohort With a 20-Year Follow-Up
Kanbay M, Xhaard C, Le Floch E, Dandine-Roulland C, Girerd N, Ferreira JP, Boivin JM, Wagner S, Bacq-Daian D, Deleuze JF, Zannad F and Rossignol P
Methylome-wide analysis of IVF neonates that underwent embryo culture in different media revealed no significant differences
Koeck RM, Busato F, Tost J, Consten D, van Echten-Arends J, Mastenbroek S, Wurth Y, Remy S, Langie S, Nawrot TS, Plusquin M, Alfano R, Bijnens EM, Gielen M, van Golde R, Dumoulin JCM, Brunner H, van Montfoort APA and Zamani Esteki M
At age 9, the methylome of assisted reproductive technology children that underwent embryo culture in different media is not significantly different on a genome-wide scale
Koeck RM, Busato F, Tost J, Zandstra H, Remy S, Langie S, Gielen M, van Golde R, Dumoulin JCM, Brunner H, Zamani Esteki M and van Montfoort APA
Identification of risk loci for primary aldosteronism in genome-wide association studies
Le Floch E, Cosentino T, Larsen CK, Beuschlein F, Reincke M, Amar L, Rossi GP, De Sousa K, Baron S, Chantalat S, Saintpierre B, Lenzini L, Frouin A, Giscos-Douriez I, Ferey M, Abdellatif AB, Meatchi T, Empana JP, Jouven X, Gieger C, Waldenberger M, Peters A, Cusi D, Salvi E, Meneton P, Touvier M, Deschasaux M, Druesne-Pecollo N, Boulkroun S, Fernandes-Rosa FL, Deleuze JF, Jeunemaitre X and Zennaro MC
Association of Rare APOE Missense Variants V236E and R251G With Risk of Alzheimer Disease
Le Guen Y, Belloy ME, Grenier-Boley B, de Rojas I, Castillo-Morales A, Jansen I, Nicolas A, Bellenguez C, Dalmasso C, Kucukali F, Eger SJ, Rasmussen KL, Thomassen JQ, Deleuze JF, He Z, Napolioni V, Amouyel P, Jessen F, Kehoe PG, van Duijn C, Tsolaki M, Sanchez-Juan P, Sleegers K, Ingelsson M, Rossi G, Hiltunen M, Sims R, van der Flier WM, Ramirez A, Andreassen OA, Frikke-Schmidt R, Williams J, Ruiz A, Lambert JC, Greicius MD, Members of the Eadb GRACEDDG, Groups E, Arosio B, Benussi L, Boland A, Borroni B, Caffarra P, Daian D, Daniele A, Debette S, Dufouil C, Duzel E, Galimberti D, Giedraitis V, Grimmer T, Graff C, Grunblatt E, Hanon O, Hausner L, Heilmann-Heimbach S, Holstege H, Hort J, Jurgen D, Kuulasmaa T, van der Lugt A, Masullo C, Mecocci P, Mehrabian S, de Mendonca A, Moebus S, Nacmias B, Nicolas G, Olaso R, Papenberg G, Parnetti L, Pasquier F, Peters O, Pijnenburg YAL, Popp J, Rainero I, Ramakers I, Riedel-Heller S, Scarmeas N, Scheltens P, Scherbaum N, Schneider A, Seripa D, Soininen H, Solfrizzi V, Spalletta G, Squassina A, van Swieten J, Tegos TJ, Tremolizzo L, Verhey F, Vyhnalek M, Wiltfang J, Boada M, Garcia-Gonzalez P, Puerta R, Real LM, Alvarez V, Bullido MJ, Clarimon J, Garcia-Alberca JM, Mir P, Moreno F, Pastor P, Pinol-Ripoll G, Molina-Porcel L, Perez-Tur J, Rodriguez-Rodriguez E, Royo JL, Sanchez-Valle R, Dichgans M and Rujescu D
Association between dietary patterns reflecting one-carbon metabolism nutrients intake before pregnancy and placental DNA methylation
Lecorguille M, Charles MA, Lepeule J, Lioret S, de Lauzon-Guillain B, Forhan A, Tost J, Suderman M and Heude B
The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study Protocol
Lejeune C, Robert-Viard C, Meunier-Beillard N, Borel MA, Gourves L, Staraci S, Soilly AL, Guillemin F, Seror V, Achit H, Bouctot M, Asensio ML, Briffaut AS, Delmas C, Bruel AL, Benoit A, Simon A, Gerard B, Hadj Abdallah H, Lyonnet S, Faivre L, Thauvin-Robinet C, Odent S, Heron D, Sanlaville D, Frebourg T, Muller J, Duffourd Y, Boland A, Deleuze JF, Esperou H, Binquet C and Dollfus H
Distinct functional classes of PDGFRB pathogenic variants in primary familial brain calcification
Lenglez S, Sablon A, Fenelon G, Boland A, Deleuze JF, Boutoleau-Bretonniere C, Nicolas G and Demoulin JB
Association of Self-reported COVID-19 Infection and SARS-CoV-2 Serology Test Results With Persistent Physical Symptoms Among French Adults During the COVID-19 Pandemic
Matta J, Wiernik E, Robineau O, Carrat F, Touvier M, Severi G, de Lamballerie X, Blanche H, Deleuze JF, Gouraud C, Hoertel N, Ranque B, Goldberg M, Zins M, Lemogne C and Sante PReISePGPlCC-SSG
Different Pigmentation Risk Loci for High-Risk Monosomy 3 and Low-Risk Disomy 3 Uveal Melanomas
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
iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells
Mouka A, Arkoun B, Moison P, Drevillon L, Jarray R, Brisset S, Mayeur A, Bouligand J, Boland-Auge A, Deleuze JF, Yates F, Lemonnier T, Callier P, Duffourd Y, Nitschke P, Ollivier E, Bourdin A, De Vos J, Livera G, Tachdjian G, Maouche-Chretien L and Tosca L
A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics
Nicolas G, Sevigny M, Lecoquierre F, Marguet F, Deschenes A, Del Pelaez MC, Feuillette S, Audebrand A, Lecourtois M, Rousseau S, Richard AC, Cassinari K, Deramecourt V, Duyckaerts C, Boland A, Deleuze JF, Meyer V, Clarimon Echavarria J, Gelpi E, Akiyama H, Hasegawa M, Kawakami I, Wong TH, Van Rooij JGJ, Van Swieten JC, Campion D, Dutchak PA, Wallon D, Lavoie-Cardinal F, Laquerriere A, Rovelet-Lecrux A and Sephton CF
Modifier genes in NF1: results of the first Genome-Wide Association Study in 1,333 patients
Pacot L, Sabbagh A, Parfait B, Boland-Auge A, Bacq-Daian D, Laurendeau I, Ferkal S, Briand-Suleau A, Allanore L, Deleuze JF, Vidaud M, Vidaud D, Wolkenstein P, Pasmant E and Network MNF
European Journal of Human Genetics 30 (Suppl 1), 596-596, 2022
Global genome decompaction leads to stochastic activation of gene expression as a first step toward fate commitment in human hematopoietic cells
Parmentier R, Racine L, Moussy A, Chantalat S, Sudharshan R, Papili Gao N, Stockholm D, Corre G, Fourel G, Deleuze JF, Gunawan R and Paldi A
DNA methylation changes in response to neoadjuvant chemotherapy are associated with breast cancer survival
Pedersen CA, Cao MD, Fleischer T, Rye MB, Knappskog S, Eikesdal HP, Lonning PE, Tost J, Kristensen VN, Tessem MB, Giskeodegard GF and Bathen TF
Experimental evolution links post-transcriptional regulation to Leishmania fitness gain
Piel L, Rajan KS, Bussotti G, Varet H, Legendre R, Proux C, Douche T, Giai-Gianetto Q, Chaze T, Cokelaer T, Vojtkova B, Gordon-Bar N, Doniger T, Cohen-Chalamish S, Rengaraj P, Besse C, Boland A, Sadlova J, Deleuze JF, Matondo M, Unger R, Volf P, Michaeli S, Pescher P and Spath GF
PIntMF: Penalized Integrative Matrix Factorization method for Multi-omics data
Pierre-Jean M, Mauger F, Deleuze JF and Le Floch E
Persistent symptoms after the first wave of COVID-19 in relation to SARS-CoV-2 serology and experience of acute symptoms: A nested survey in a population-based cohort
Robineau O, Wiernik E, Lemogne C, de Lamballerie X, Ninove L, Blanche H, Deleuze JF, Ribet C, Kab S, Goldberg M, Severi G, Touvier M, Zins M and Carrat F
Long-lasting Symptoms After an Acute COVID-19 Infection and Factors Associated With Their Resolution
Robineau O, Zins M, Touvier M, Wiernik E, Lemogne C, de Lamballerie X, Blanche H, Deleuze JF, Saba Villarroel PM, Dorival C, Nicol J, Gomes-Rima R, Correia E, Coeuret-Pellicer M, Druesne-Pecollo N, Esseddik Y, Ribet C, Goldberg M, Severi G, Carrat F and Sante PReISePGPlCC-SSG
Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development
Romero DM, Poirier K, Belvindrah R, Moutkine I, Houllier A, LeMoing AG, Petit F, Boland A, Collins SC, Soiza-Reilly M, Yalcin B, Chelly J, Deleuze JF, Bahi-Buisson N and Francis F
Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes
Schramm C, Charbonnier C, Zarea A, Lacour M, Wallon D, collaborators C, Boland A, Deleuze JF, Olaso R, consortium A, Alarcon F, Campion D, Nuel G and Nicolas G
Publisher Correction: Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes
Schramm C, Charbonnier C, Zarea A, Lacour M, Wallon D, collaborators C, Boland A, Deleuze JF, Olaso R, consortium A, Alarcon F, Campion D, Nuel G and Nicolas G
Characterising Aggressive Pulmonary Carcinoids Through Integrative Omics Analysis Within the lungNENomics Project
Sexton-Oates A, Di Genova A, Mangiante L, Voegele C, Tabone-Eglinger S, Walter T, Ghantous A, Cuenin C, Nurnberg P, Altmuller J, Boland A, Deleuze JF, Speel EJ, Dingemans AM, Moonen L, Derks J, Dayton T, Damiola F, Girard N, Lantuejoul S, Alcala N, Foll M, Fernandez-Cuesta L and network Nl
Journal of Thoracic Oncology 17 (9), S45-S46, 2022
Doublecortin mutation leads to persistent defects in the Golgi apparatus and mitochondria in adult hippocampal pyramidal cells
Stouffer MA, Khalaf-Nazzal R, Cifuentes-Diaz C, Albertini G, Bandet E, Grannec G, Lavilla V, Deleuze JF, Olaso R, Nosten-Bertrand M and Francis F
Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates
Szenker-Ravi E, Ott T, Khatoo M, de Bellaing AM, Goh WX, Chong YL, Beckers A, Kannesan D, Louvel G, Anujan P, Ravi V, Bonnard C, Moutton S, Schoen P, Fradin M, Colin E, Megarbane A, Daou L, Chehab G, Di Filippo S, Rooryck C, Deleuze JF, Boland A, Arribard N, Eker R, Tohari S, Ng AY, Rio M, Lim CT, Eisenhaber B, Eisenhaber F, Venkatesh B, Amiel J, Crollius HR, Gordon CT, Gossler A, Roy S, Attie-Bitach T, Blum M, Bouvagnet P and Reversade B
Publisher Correction: Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates
Szenker-Ravi E, Ott T, Khatoo M, de Bellaing AM, Goh WX, Chong YL, Beckers A, Kannesan D, Louvel G, Anujan P, Ravi V, Bonnard C, Moutton S, Schoen P, Fradin M, Colin E, Megarbane A, Daou L, Chehab G, Di Filippo S, Rooryck C, Deleuze JF, Boland A, Arribard N, Eker R, Tohari S, Ng AY, Rio M, Lim CT, Eisenhaber B, Eisenhaber F, Venkatesh B, Amiel J, Crollius HR, Gordon CT, Gossler A, Roy S, Attie-Bitach T, Blum M, Bouvagnet P and Reversade B
G6PD and HBB polymorphisms in the Senegalese population: prevalence, correlation with clinical malaria
Thiam F, Diop G, Coulonges C, Derbois C, Mbengue B, Thiam A, Nguer CM, Zagury JF, Deleuze JF and Dieye A
Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors
Thibord F, Klarin D, Brody JA, Chen MH, Levin MG, Chasman DI, Goode EL, Hveem K, Teder-Laving M, Martinez-Perez A, Aissi D, Daian-Bacq D, Ito K, Natarajan P, Lutsey PL, Nadkarni GN, de Vries PS, Cuellar-Partida G, Wolford BN, Pattee JW, Kooperberg C, Braekkan SK, Li-Gao R, Saut N, Sept C, Germain M, Judy RL, Wiggins KL, Ko D, O'Donnell CJ, Taylor KD, Giulianini F, De Andrade M, Nost TH, Boland A, Empana JP, Koyama S, Gilliland T, Do R, Huffman JE, Wang X, Zhou W, Manuel Soria J, Carlos Souto J, Pankratz N, Haessler J, Hindberg K, Rosendaal FR, Turman C, Olaso R, Kember RL, Bartz TM, Lynch JA, Heckbert SR, Armasu SM, Brumpton B, Smadja DM, Jouven X, Komuro I, Clapham KR, Loos RJF, Willer CJ, Sabater-Lleal M, Pankow JS, Reiner AP, Morelli VM, Ridker PM, Vlieg AVH, Deleuze JF, Kraft P, Rader DJ, Global Biobank Meta-Analysis I, Estonian Biobank Research T, andMe Research T, Biobank J, Group CHW, Min Lee K, Psaty BM, Heidi Skogholt A, Emmerich J, Suchon P, Rich SS, Vy HMT, Tang W, Jackson RD, Hansen JB, Morange PE, Kabrhel C, Tregouet DA, Damrauer SM, Johnson AD and Smith NL
Circulation 146 (16), 1225-1242, 2022
Current and Emerging Technologies for the Analysis of the Genome-Wide and Locus-Specific DNA Methylation Patterns
Tost J
Epigenomic technologies: an interview with Jorg Tost
Tost J
Introducing the research article reporting checklist for bioinformatic and data re-analysis studies
Tost J and Johnson S
Chr21 protein-protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer's disease
Viard J, Loe-Mie Y, Daudin R, Khelfaoui M, Plancon C, Boland A, Tejedor F, Huganir RL, Kim E, Kinoshita M, Liu G, Haucke V, Moncion T, Yu E, Hindie V, Blehaut H, Mircher C, Herault Y, Deleuze JF, Rain JC, Simonneau M and Lepagnol-Bestel AM
Impact of natriuretic peptide polymorphisms on diastolic and metabolic function in a populational cohort: insights from the STANISLAS cohort
Xhaard C, Rouget R, Vodovar N, Le Floch E, Dandine-Roulland C, Wagner S, Bacq-Daian D, Thuillier Q, Boivin JM, Branlant C, Deleuze JF, Behm-Ansmant I, Zannad F, Rossignol P and Girerd N
Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder
Ziegler A, Steindl K, Hanner AS, Kumar Kar R, Prouteau C, Boland A, Deleuze JF, Coubes C, Bezieau S, Kury S, Maystadt I, Le Mao M, Lenaers G, Navet B, Faivre L, Tran Mau-Them F, Zanoni P, Chung WK, Rauch A, Bonneau D and Park MH
RNA sequencing of chronic GVHD skin lesions defines shared and unique inflammatory pathways characterizing lichen planus and morphea
Zouali H, Lemasson J, Calugareanu A, Battail C, Michonneau D, Le Buanec H, Grolleau C, Cassius C, Robin M, Merandet MM, Dobos G, Mahevas T, Rybojad M, de Masson A, Amode R, Boland A, Michel L, Sicre de Fontbrune F, Peffault de Latour R, Bruneval P, Ait-Oufella H, Battistella M, Jachiet M, Bagot M, Deleuze JF, Socie G and Bouaziz JD
Crosstalk between microRNA expression and DNA methylation drives the hormone-dependent phenotype of breast cancer
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 diseases
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 Tests
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 system
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 Sahul
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 abnormalities
Carmignac V, Mignot C, Blanchard E, Kuentz P, Aubriot-Lorton MH, Parker VER, Sorlin A, Fraitag S, Courcet JB, Duffourd Y, Rodriguez D, Knox RG, Polubothu S, Boland A, Olaso R, Delepine M, Darmency V, Riachi M, Quelin C, Rollier P, Goujon L, Grotto S, Capri Y, Jacquemont ML, Odent S, Amram D, Chevarin M, Vincent-Delorme C, Catteau B, Guibaud L, Arzimanoglou A, Keddar M, Sarret C, Callier P, Bessis D, Genevieve D, Deleuze JF, Thauvin C, Semple RK, Philippe C, Riviere JB, Kinsler VA, Faivre L and Vabres P
Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
Carmignac V, Mignot C, Blanchard E, Kuentz P, Aubriot-Lorton MH, Parker VER, Sorlin A, Fraitag S, Courcet JB, Duffourd Y, Rodriguez D, Knox RG, Polubothu S, Boland A, Olaso R, Delepine M, Darmency V, Riachi M, Quelin C, Rollier P, Goujon L, Grotto S, Capri Y, Jacquemont ML, Odent S, Amram D, Chevarin M, Vincent-Delorme C, Catteau B, Guibaud L, Arzimanoglou A, Keddar M, Sarret C, Callier P, Bessis D, Genevieve D, Deleuze JF, Thauvin C, Semple RK, Philippe C, Riviere JB, Kinsler VA, Faivre L and Vabres P
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 study
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 study
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 imputation
Charon C, Allodji R, Meyer V and Deleuze JF
Publisher Correction: Impact of pre- and post-variant filtration strategies on imputation
Charon C, Allodji R, Meyer V and Deleuze JF
Genomic insights into population history and biological adaptation in Oceania
Choin J, Mendoza-Revilla J, Arauna LR, Cuadros-Espinoza S, Cassar O, Larena M, Ko AMS, Harmant C, Laurent R, Verdu P, Laval G, Boland A, Olaso R, Deleuze JF, Valentin F, Ko YC, Jakobsson M, Gessain A, Excoffier L, Stoneking M, Patin E and Quintana-Murci L
A form of muscular dystrophy associated with pathogenic variants in JAG2
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
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
Coursimault J, Guerrot AM, Morrow MM, Schramm C, Zamora FM, Shanmugham A, Liu S, Zou F, Bilan F, Le Guyader G, Bruel AL, Denomme-Pichon AS, Faivre L, Tran Mau-Them F, Tessarech M, Colin E, El Chehadeh S, Gerard B, Schaefer E, Cogne B, Isidor B, Nizon M, Doummar D, Valence S, Heron D, Keren B, Mignot C, Coutton C, Devillard F, Alaix AS, Amiel J, Colleaux L, Munnich A, Poirier K, Rio M, Rondeau S, Barcia G, Callewaert B, Dheedene A, Kumps C, Vergult S, Menten B, Chung WK, Hernan R, Larson A, Nori K, Stewart S, Wheless J, Kresge C, Pletcher BA, Caumes R, Smol T, Sigaudy S, Coubes C, Helm M, Smith R, Morrison J, Wheeler PG, Kritzer A, Jouret G, Afenjar A, Deleuze JF, Olaso R, Boland A, Poitou C, Frebourg T, Houdayer C, Saugier-Veber P, Nicolas G and Lecoquierre F
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Coursimault J, Lecoquierre F, Saugier-Veber P, Drouin-Garraud V, Lechevallier J, Boland A, Deleuze JF, Frebourg T, Nicolas G and Brehin AC
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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 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
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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
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Denomme-Pichon AS, Vitobello A, Olaso R, Ziegler A, Jeanne M, Tran Mau-Them F, Couturier V, Racine C, Isidor B, Poe C, Jouan T, Boland A, Fin B, Bacq-Daian D, Besse C, Garde A, Prost A, Garret P, Tisserant E, Delanne J, Nambot S, Juven A, Gorce M, Nizon M, Vincent M, Moutton S, Fradin M, Lavillaureix A, Rollier P, Capri Y, Van-Gils J, Busa T, Sigaudy S, Pasquier L, Barth M, Bruel AL, Flamant C, Prouteau C, Bonneau D, Toutain A, Chantegret C, Callier P, Philippe C, Duffourd Y, Deleuze JF, Sorlin A, Faivre L and Thauvin-Robinet C
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