| 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 cecal microbiota changes | Alashkar Alhamwe B, 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 | | | | Identification of extracellular vesicle microRNA signatures specifically linked to inflammatory and metabolic mechanisms in obesity-associated low type-2 asthma | Alhamdan F, Greulich T, Daviaud C, Marsh LM, Pedersen F, Tholken C, Pfefferle PI, Bahmer T, Potaczek DP, Tost J and Garn H | | | | Heritable defects in telomere and mitotic function selectively predispose to sarcomas | Ballinger ML, Pattnaik S, Mundra PA, Zaheed M, Rath E, Priestley P, Baber J, Ray-Coquard I, Isambert N, Causeret S, van der Graaf WTA, Puri A, Duffaud F, Le Cesne A, Seddon B, Chandrasekar C, Schiffman JD, Brohl AS, James PA, Kurtz JE, Penel N, Myklebost O, Meza-Zepeda LA, Pickett H, Kansara M, Waddell N, Kondrashova O, Pearson JV, Barbour AP, Li S, Nguyen TL, Fatkin D, Graham RM, Giannoulatou E, Green MJ, Kaplan W, Ravishankar S, Copty J, Powell JE, Cuppen E, van Eijk K, Veldink J, Ahn JH, Kim JE, Randall RL, Tucker K, Judson I, Sarin R, Ludwig T, Genin E, Deleuze JF, French Exome Project C, Haber M, Marshall G, Cairns MJ, Blay JY, International Sarcoma Kindred S, Thomas DM, Tattersall M, Neuhaus S, Lewis C, Tucker K, Carey-Smith R, Wood D, Porceddu S, Dickinson I, Thorne H, James P, Ray-Coquard I, Blay JY, Cassier P, Le Cesne A, Duffaud F, Penel N, Isambert N, Kurtz JE, Puri A, Sarin R, Ahn JH, Kim JE, Ward I, Judson I, van der Graaf W, Seddon B, Chandrasekar C, Rickar R, Hennig I, Schiffman J, Randall RL, Silvestri A, Zaratzian A, Tayao M, Walwyn K, Niedermayr E, Mang D, Clark R, Thorpe T, MacDonald J, Riddell K, Mar J, Fennelly V, Wicht A, Zielony B, Galligan E, Glavich G, Stoeckert J, Williams L, Djandjgava L, Buettner I, Osinki C, Stephens S, Rogasik M, Bouclier L, Girodet M, Charreton A, Fayet Y, Crasto S, Sandupatla B, Yoon Y, Je N, Thompson L, Fowler T, Johnson B, Petrikova G, Hambridge T, Hutchins A, Bottero D, Scanlon D, Stokes-Denson J, Genin E, Campion D, Dartigues JF, Deleuze JF, Lambert JC, Redon R, Ludwig T, Grenier-Boley B, Letort S, Lindenbaum P, Meyer V, Quenez O, Dina C, Bellenguez C, Le Clezio CC, Giemza J, Chatel S, Ferec C, Le Marec H, Letenneur L, Nicolas G and Rouault K | | | | Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders | Colin E, Duffourd Y, Chevarin M, Tisserant E, Verdez S, Paccaud J, Bruel AL, Tran Mau-Them F, Denomme-Pichon AS, Thevenon J, Safraou H, Besnard T, Goldenberg A, Cogne B, Isidor B, Delanne J, Sorlin A, Moutton S, Fradin M, Dubourg C, Gorce M, Bonneau D, El Chehadeh S, Debray FG, Doco-Fenzy M, Uguen K, Chatron N, Aral B, Marle N, Kuentz P, Boland A, Olaso R, Deleuze JF, Sanlaville D, Callier P, Philippe C, Thauvin-Robinet C, Faivre L 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 | | | | MXD4/MAD4 Regulates Human Keratinocyte Precursor Fate | Coutier J, Auvre F, Lemaitre G, Lataillade JJ, Deleuze JF, Romeo PH, Martin MT and Fortunel NO | | | | Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases | Damian A, Nunez-Moreno G, Jubin C, Tamayo A, de Alba MR, Villaverde C, Fund C, Delepine M, Leduc A, Deleuze JF, Minguez P, Ayuso C and Corton M | | | | Single cell transcriptome sequencing of stimulated and frozen human peripheral blood mononuclear cells | Derbois C, Palomares MA, Deleuze JF, Cabannes E and Bonnet E | | | | 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 | | | | Genetic Associations Between Modifiable Risk Factors and Alzheimer Disease | European As, Dementia Biobank Mendelian Randomization C, Luo J, Thomassen JQ, Bellenguez C, Grenier-Boley B, de Rojas I, Castillo A, Parveen K, Kucukali F, Nicolas A, Peters O, Schneider A, Dichgans M, Rujescu D, Scherbaum N, Jurgen D, Riedel-Heller S, Hausner L, Porcel LM, Duzel E, Grimmer T, Wiltfang J, Heilmann-Heimbach S, Moebus S, Tegos T, Scarmeas N, Clarimon J, Moreno F, Perez-Tur J, Bullido MJ, Pastor P, Sanchez-Valle R, Alvarez V, Boada M, Garcia-Gonzalez P, Puerta R, Mir P, Real LM, Pinol-Ripoll G, Garcia-Alberca JM, Royo JL, Rodriguez-Rodriguez E, Soininen H, Kuulasmaa T, de Mendonca A, Mehrabian S, Hort J, Vyhnalek M, van der Lee S, Graff C, Papenberg G, Giedraitis V, Boland A, Bacq-Daian D, Deleuze JF, Nicolas G, Dufouil C, Pasquier F, Hanon O, Debette S, Grunblatt E, Popp J, Benussi L, Galimberti D, Arosio B, Mecocci P, Solfrizzi V, Parnetti L, Squassina A, Tremolizzo L, Borroni B, Nacmias B, Sorbi S, Caffarra P, Seripa D, Rainero I, Daniele A, Masullo C, Spalletta G, Williams J, Amouyel P, Jessen F, Kehoe P, Tsolaki M, Rossi G, Sanchez-Juan P, Sleegers K, Ingelsson M, Andreassen OA, Hiltunen M, Van Duijn C, Sims R, van der Flier W, Ruiz A, Ramirez A, Lambert JC and Frikke-Schmidt R | | | | Excessive self-grooming, gene dysregulation and imbalance between the striosome and matrix compartments in the striatum of Shank3 mutant mice | Ferhat AT, Verpy E, Biton A, Forget B, De Chaumont F, Mueller F, Le Sourd AM, Coqueran S, Schmitt J, Rochefort C, Rondi-Reig L, Leboucher A, Boland A, Fin B, Deleuze JF, Boeckers TM, Ey E and Bourgeron T | | | | DNA methylation dynamics during pregnancy | Fradin D, Tost J, Busato F, Mille C, Lachaux F, Deleuze JF, Apter G and Benachi A | | | | "Corrigendum to ""Dissecting the genetic heterogeneity of gastric cancer""" | Hess T, Maj C, Gehlen J, Borisov O, Haas SL, Gockel I, Vieth M, Piessen G, Alakus H, Vashist Y, Pereira C, Knapp M, Schuller V, Quaas A, Grabsch HI, Trautmann J, Malecka-Wojciesko E, Mokrowiecka A, Speller J, Mayr A, Schroder J, Hillmer AM, Heider D, Lordick F, Perez-Aisa A, Campo R, Espinel J, Geijo F, Thomson C, Bujanda L, Sopena F, Lanas A, Pellise M, Pauligk C, Goetze TO, Zelck C, Reingruber J, Hassanin E, Elbe P, Alsabeah S, Lindblad M, Nilsson M, Kreuser N, Thieme R, Tavano F, Pastorino R, Arzani D, Persiani R, Jung JO, Nienhuser H, Ott K, Schumann RR, Kumpf O, Burock S, Arndt V, Jakubowska A, Lawniczak M, Moreno V, Martin V, Kogevinas M, Pollan M, Dabrowska J, Salas A, Cussenot O, Boland-Auge A, Daian D, Deleuze JF, Salvi E, Teder-Laving M, Tomasello G, Ratti M, Senti C, De Re V, Steffan A, Holscher AH, Messerle K, Bruns CJ, Sivins A, Bogdanova I, Skieceviciene J, Arstikyte J, Moehler M, Lang H, Grimminger PP, Kruschewski M, Vassos N, Schildberg C, Lingohr P, Ridwelski K, Lippert H, Fricker N, Krawitz P, Hoffmann P, Nothen MM, Veits L, Izbicki JR, Mostowska A, Martinon-Torres F, Cusi D, Adolfsson R, Cancel-Tassin G, Hoblinger A, Rodermann E, Ludwig M, Keller G, Metspalu A, Brenner H, Heller J, Neef M, Schepke M, Dumoulin FL, Hamann L, Cannizzaro R, Ghidini M, Plassmann D, Geppert M, Malfertheiner P, Glehen O, Skoczylas T, Majewski M, Lubinski J, Palmieri O, Boccia S, Latiano A, Aragones N, Schmidt T, Dinis-Ribeiro M, Medeiros R, Al-Batran SE, Leja M, Kupcinskas J, Garcia-Gonzalez MA, Venerito M and Schumacher J | | | | Dissecting the genetic heterogeneity of gastric cancer | Hess T, Maj C, Gehlen J, Borisov O, Haas SL, Gockel I, Vieth M, Piessen G, Alakus H, Vashist Y, Pereira C, Knapp M, Schuller V, Quaas A, Grabsch HI, Trautmann J, Malecka-Wojciesko E, Mokrowiecka A, Speller J, Mayr A, Schroder J, Hillmer AM, Heider D, Lordick F, Perez-Aisa A, Campo R, Espinel J, Geijo F, Thomson C, Bujanda L, Sopena F, Lanas A, Pellise M, Pauligk C, Goetze TO, Zelck C, Reingruber J, Hassanin E, Elbe P, Alsabeah S, Lindblad M, Nilsson M, Kreuser N, Thieme R, Tavano F, Pastorino R, Arzani D, Persiani R, Jung JO, Nienhuser H, Ott K, Schumann RR, Kumpf O, Burock S, Arndt V, Jakubowska A, Lawniczak M, Moreno V, Martin V, Kogevinas M, Pollan M, Dabrowska J, Salas A, Cussenot O, Boland-Auge A, Daian D, Deleuze JF, Salvi E, Teder-Laving M, Tomasello G, Ratti M, Senti C, De Re V, Steffan A, Holscher AH, Messerle K, Bruns CJ, Sivins A, Bogdanova I, Skieceviciene J, Arstikyte J, Moehler M, Lang H, Grimminger PP, Kruschewski M, Vassos N, Schildberg C, Lingohr P, Ridwelski K, Lippert H, Fricker N, Krawitz P, Hoffmann P, Nothen MM, Veits L, Izbicki JR, Mostowska A, Martinon-Torres F, Cusi D, Adolfsson R, Cancel-Tassin G, Hoblinger A, Rodermann E, Ludwig M, Keller G, Metspalu A, Brenner H, Heller J, Neef M, Schepke M, Dumoulin FL, Hamann L, Cannizzaro R, Ghidini M, Plassmann D, Geppert M, Malfertheiner P, Gehlen O, Skoczylas T, Majewski M, Lubinski J, Palmieri O, Boccia S, Latiano A, Aragones N, Schmidt T, Dinis-Ribeiro M, Medeiros R, Al-Batran SE, Leja M, Kupcinskas J, Garcia-Gonzalez MA, Venerito M and Schumacher J | | | | Whole genome analysis of plasma fibrinogen reveals population-differentiated genetic regulators with putative liver roles | Huffman JE, Nicolas J, Hahn J, Heath AS, Raffield LM, Yanek LR, Brody JA, Thibord F, Almasy L, Bartz TM, Bielak LF, Bowler RP, Carrasquilla GD, Chasman DI, Chen MH, Emmert DB, Ghanbari M, Haessle J, Hottenga JJ, Kleber ME, Le NQ, Lee J, Lewis JP, Li-Gao R, Luan J, Malmberg A, Mangino M, Marioni RE, Martinez-Perez A, Pankratz N, Polasek O, Richmond A, Rodriguez BA, Rotter JI, Steri M, Suchon P, Trompet S, Weiss S, Zare M, Auer P, Cho MH, Christofidou P, Davies G, de Geus E, Deleuze JF, Delgado GE, Ekunwe L, Faraday N, Gogele M, Greinacher A, He G, Howard T, Joshi PK, Kilpelainen TO, Lahti J, Linneberg A, Naitza S, Noordam R, Pauls-Verges F, Rich SS, Rosendaal FR, Rudan I, Ryan KA, Souto JC, van Rooij FJ, Wang H, Zhao W, Becker LC, Beswick A, Brown MR, Cade BE, Campbell H, Cho K, Crapo JD, Curran JE, de Maat MP, Doyle M, Elliott P, Floyd JS, Fuchsberger C, Grarup N, Guo X, Harris SE, Hou L, Kolcic I, Kooperberg C, Menni C, Nauck M, O'Connell JR, Orru V, Psaty BM, Raikkonen K, Smith JA, Soria JM, Stott DJ, van Hylckama Vlieg A, Watkins H, Willemsen G, Wilson P, Ben-Shlomo Y, Blangero J, Boomsma D, Cox SR, Dehghan A, Eriksson JG, Fiorillo E, Fornage M, Hansen T, Hayward C, Ikram MA, Jukema JW, Kardia SL, Lange LA, Marz W, Mathias RA, Mitchell BD, Mook-Kanamori DO, Morange PE, Pedersen O, Pramstaller PP, Redline S, Reiner A, Ridker PM, Silverman EK, Spector TD, Volker U, Wareham N, Wilson JF, Yao J, Program VAMV, Consortium NT-OfPM, Tregouet DA, Johnson AD, Wolberg AS, de Vries PS, Sabater-Lleal M, Morrison AC and Smith NL | | | | Layer myocardial strain is the most heritable echocardiographic trait | Huttin O, Xhaard C, Dandine-Roulland C, Le Floch E, Bacq-Daian D, Lamiral Z, Bozec E, Deleuze JF, Zannad F, Rossignol P and Girerd N | | | | Elevated plasma complement factor H related 5 protein is associated with venous thromboembolism | Iglesias MJ, Sanchez-Rivera L, Ibrahim-Kosta M, Naudin C, Munsch G, Goumidi L, Farm M, Smith PM, Thibord F, Kral-Pointner JB, Hong MG, Suchon P, Germain M, Schottmaier W, Dusart P, Boland A, Kotol D, Edfors F, Koprulu M, Pietzner M, Langenberg C, Damrauer SM, Johnson AD, Klarin DM, Smith NL, Smadja DM, Holmstrom M, Magnusson M, Silveira A, Uhlen M, Renne T, Martinez-Perez A, Emmerich J, Deleuze JF, Antovic J, Soria Fernandez JM, Assinger A, Schwenk JM, Souto Andres JC, Morange PE, Butler LM, Tregouet DA and Odeberg J | | | | LT-RPA: An Isothermal DNA Amplification Approach for Improved Microsatellite Genotyping and Microsatellite Instability Detection | Jeanjean SI, Renault V, Daunay A, Shen Y, Hardy LM, Deleuze JF and How-Kit A | | | | Prenatal exposure to triclosan assessed in multiple urine samples and placental DNA methylation | Jedynak P, Broseus L, Tost J, Busato F, Gabet S, Thomsen C, Sakhi AK, Pin I, Slama R, Lepeule J and Philippat C | | | | Antithrombin, PC (Protein C), and PS (Protein S): Genome and Transcriptome-Wide Association Studies Identify 7 Novel Loci Regulating Plasma Levels | Ji Y, Temprano-Sagrera G, Holle LA, Bebo A, Brody J, Le NQ, Kangro K, Brown MR, Martinez-Perez A, Sitlani CM, Suchon P, Kleber ME, Emmert DB, Bilge Ozel A, Dobson DA, Tang W, Llobet D, Tracy RP, Deleuze JF, Delgado GE, Gogele M, Wiggins KL, Souto JC, Pankow JS, Taylor KD, Tregouet DA, Moissl AP, Fuchsberger C, Rosendaal FR, Morrison AC, Soria JM, Cushman M, Morange PE, Marz W, Hicks AA, Desch KC, Johnson AD, de Vries PS, Wolberg AS, Smith NL and Sabater-Lleal M | | | | 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 | | | | High-Dimensional Mediation Analysis: A New Method Applied to Maternal Smoking, Placental DNA Methylation, and Birth Outcomes | Jumentier B, Barrot CC, Estavoyer M, Tost J, Heude B, Francois O and Lepeule J | | | | WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects | Karam A, Delvallee C, Estrada-Cuzcano A, Geoffroy V, Lamouche JB, Leuvrey AS, Nourisson E, Tarabeux J, Stoetzel C, Scheidecker S, Porter LF, Genin E, Redon R, Sandron F, Boland A, Deleuze JF, Le May N, Dollfus H and Muller J | | | | A Case-Only Genome-Wide Interaction Study of Smoking and Bladder Cancer Risk: Results from the COBLAnCE Cohort | Karimi M, Mendez-Pineda S, Blanche H, Boland A, Besse C, Deleuze JF, Meng XY, Sirab N, Groussard K, Lebret T, Bonastre J, Allory Y, Radvanyi F, Benhamou S and Michiels S | | | | Multiancestry analysis of the HLA locus in Alzheimer's and Parkinson's diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes | Le Guen Y, Luo G, Ambati A, Damotte V, Jansen I, Yu E, Nicolas A, de Rojas I, Peixoto Leal T, Miyashita A, Bellenguez C, Lian MM, Parveen K, Morizono T, Park H, Grenier-Boley B, Naito T, Kucukali F, Talyansky SD, Yogeshwar SM, Sempere V, Satake W, Alvarez V, Arosio B, Belloy ME, Benussi L, Boland A, Borroni B, Bullido MJ, Caffarra P, Clarimon J, Daniele A, Darling D, Debette S, Deleuze JF, Dichgans M, Dufouil C, During E, Duzel E, Galimberti D, Garcia-Ribas G, Garcia-Alberca JM, Garcia-Gonzalez P, Giedraitis V, Goldhardt O, Graff C, Grunblatt E, Hanon O, Hausner L, Heilmann-Heimbach S, Holstege H, Hort J, Jung YJ, Jurgen D, Kern S, Kuulasmaa T, Lee KH, Lin L, Masullo C, Mecocci P, Mehrabian S, de Mendonca A, Boada M, Mir P, Moebus S, Moreno F, Nacmias B, Nicolas G, Niida S, Nordestgaard BG, Papenberg G, Papma J, Parnetti L, Pasquier F, Pastor P, Peters O, Pijnenburg YAL, Pinol-Ripoll G, Popp J, Porcel LM, Puerta R, Perez-Tur J, Rainero I, Ramakers I, Real LM, Riedel-Heller S, Rodriguez-Rodriguez E, Ross OA, Luis Royo J, Rujescu D, Scarmeas N, Scheltens P, Scherbaum N, Schneider A, Seripa D, Skoog I, Solfrizzi V, Spalletta G, Squassina A, van Swieten J, Sanchez-Valle R, Tan EK, Tegos T, Teunissen C, Thomassen JQ, Tremolizzo L, Vyhnalek M, Verhey F, Waern M, Wiltfang J, Zhang J, Eadb, group GAs, consortium D, DemGene, Eadi, Gerad, Asian Parkinson's Disease Genetics c, Zetterberg H, Blennow K, He Z, Williams J, Amouyel P, Jessen F, Kehoe PG, Andreassen OA, Van Duin C, Tsolaki M, Sanchez-Juan P, Frikke-Schmidt R, Sleegers K, Toda T, Zettergren A, Ingelsson M, Okada Y, Rossi G, Hiltunen M, Gim J, Ozaki K, Sims R, Foo JN, van der Flier W, Ikeuchi T, Ramirez A, Mata I, Ruiz A, Gan-Or Z, Lambert JC, Greicius MD and Mignot E | | | | High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders | Lecoquierre F, Quenez O, Fourneaux S, Coutant S, Vezain M, Rolain M, Drouot N, Boland A, Olaso R, Meyer V, Deleuze JF, Dabbagh D, Gilles I, Gayet C, Saugier-Veber P, Goldenberg A, Guerrot AM and Nicolas G | | | | Risperidone response in patients with schizophrenia drives DNA methylation changes in immune and neuronal systems | Lokmer A, Alladi CG, Troudet R, Bacq-Daian D, Boland-Auge A, Latapie V, Deleuze JF, RajKumar RP, Shewade DG, Belivier F, Marie-Claire C and Jamain S | | | | Investigation of common genetic risk factors between thyroid traits and breast cancer | Lucotte EA, Asgari Y, Sugier PE, Karimi M, Domenighetti C, Lesueur F, Boland-Auge A, Ostroumova E, de Vathaire F, Zidane M, Guenel P, Deleuze JF, Boutron-Ruault MC, Severi G, Liquet B and Truong T | | | | Multiomic analysis of malignant pleural mesothelioma identifies molecular axes and specialized tumor profiles driving intertumor heterogeneity | Mangiante L, Alcala N, Sexton-Oates A, Di Genova A, Gonzalez-Perez A, Khandekar A, Bergstrom EN, Kim J, Liu X, Blazquez-Encinas R, Giacobi C, Le Stang N, Boyault S, Cuenin C, Tabone-Eglinger S, Damiola F, Voegele C, Ardin M, Michallet MC, Soudade L, Delhomme TM, Poret A, Brevet M, Copin MC, Giusiano-Courcambeck S, Damotte D, Girard C, Hofman V, Hofman P, Mouroux J, Cohen C, Lacomme S, Mazieres J, de Montpreville VT, Perrin C, Planchard G, Rousseau N, Rouquette I, Sagan C, Scherpereel A, Thivolet F, Vignaud JM, Jean D, Ilg AGS, Olaso R, Meyer V, Boland-Auge A, Deleuze JF, Altmuller J, Nuernberg P, Ibanez-Costa A, Castano JP, Lantuejoul S, Ghantous A, Maussion C, Courtiol P, Hernandez-Vargas H, Caux C, Girard N, Lopez-Bigas N, Alexandrov LB, Galateau-Salle F, Foll M and Fernandez-Cuesta L | | | | Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 | Matuozzo D, Talouarn E, Marchal A, Zhang P, Manry J, Seeleuthner Y, Zhang Y, Bolze A, Chaldebas M, Milisavljevic B, Gervais A, Bastard P, Asano T, Bizien L, Barzaghi F, Abolhassani H, Abou Tayoun A, Aiuti A, Alavi Darazam I, Allende LM, Alonso-Arias R, Arias AA, Aytekin G, Bergman P, Bondesan S, Bryceson YT, Bustos IG, Cabrera-Marante O, Carcel S, Carrera P, Casari G, Chaibi K, Colobran R, Condino-Neto A, Covill LE, Delmonte OM, El Zein L, Flores C, Gregersen PK, Gut M, Haerynck F, Halwani R, Hancerli S, Hammarstrom L, Hatipoglu N, Karbuz A, Keles S, Kyheng C, Leon-Lopez R, Franco JL, Mansouri D, Martinez-Picado J, Metin Akcan O, Migeotte I, Morange PE, Morelle G, Martin-Nalda A, Novelli G, Novelli A, Ozcelik T, Palabiyik F, Pan-Hammarstrom Q, de Diego RP, Planas-Serra L, Pleguezuelo DE, Prando C, Pujol A, Reyes LF, Riviere JG, Rodriguez-Gallego C, Rojas J, Rovere-Querini P, Schluter A, Shahrooei M, Sobh A, Soler-Palacin P, Tandjaoui-Lambiotte Y, Tipu I, Tresoldi C, Troya J, van de Beek D, Zatz M, Zawadzki P, Al-Muhsen SZ, Alosaimi MF, Alsohime FM, Baris-Feldman H, Butte MJ, Constantinescu SN, Cooper MA, Dalgard CL, Fellay J, Heath JR, Lau YL, Lifton RP, Maniatis T, Mogensen TH, von Bernuth H, Lermine A, Vidaud M, Boland A, Deleuze JF, Nussbaum R, Kahn-Kirby A, Mentre F, Tubiana S, Gorochov G, Tubach F, Hausfater P, Effort CHG, Group COS, French CCSG, Co VCC, Clinicians C-S, Clinicians C, Orchestra Working G, Amsterdam UMCC-B, Group N-UCS, Meyts I, Zhang SY, Puel A, Notarangelo LD, Boisson-Dupuis S, Su HC, Boisson B, Jouanguy E, Casanova JL, Zhang Q, Abel L and Cobat A | | | | Co-Transplantation of Barcoded Lymphoid-Primed Multipotent (LMPP) and Common Lymphocyte (CLP) Progenitors Reveals a Major Contribution of LMPP to the Lymphoid Lineage | Michaels V, Chalabi S, Legrand A, Renard J, Tejerina E, Daouya M, Fabrega S, Megret J, Olaso R, Boland A, Deleuze JF, Battail C, Tronik-Le Roux D and Ezine S | | | | Association of ABO blood groups with venous thrombosis recurrence in middle-aged patients: insights from a weighted Cox analysis dedicated to ambispective design | Munsch G, Goumidi L, van Hylckama Vlieg A, Ibrahim-Kosta M, Bruzelius M, Deleuze JF, Rosendaal FR, Jacqmin-Gadda H, Morange PE and Tregouet DA | | | | Genome-wide association study of a semicontinuous trait: illustration of the impact of the modeling strategy through the study of Neutrophil Extracellular Traps levels | Munsch G, Proust C, Labrouche-Colomer S, Aissi D, Boland A, Morange PE, Roche A, de Chaisemartin L, Harroche A, Olaso R, Deleuze JF, James C, Emmerich J, Smadja DM, Jacqmin-Gadda H and Tregouet DA | | | | Epigenome-Wide Associations of Placental DNA Methylation and Behavioral and Emotional Difficulties in Children at 3 Years of Age | Nakamura A, Broseus L, Tost J, Vaiman D, Martins S, Keyes K, Bonello K, Fekom M, Strandberg-Larsen K, Sutter-Dallay AL, Heude B, Melchior M and Lepeule J | | | | Gene expression profiling of peripheral blood mononuclear cells from women with cervical lesions reveals new markers of cancer | Ndiaye M, Diop G, Derbois C, Spadoni JL, Noirel J, Medina-Santos R, Coulonges C, Torres M, Dieye A, Sembene M, Deleuze JF, Toledano A, Dem A, Zagury JF and Le Clerc S | | | | Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish | Odelin G, Faucherre A, Marchese D, Pinard A, Jaouadi H, Le Scouarnec S, FranceGenRef C, Chiarelli R, Achouri Y, Faure E, Herbane M, Theron A, Avierinos JF, Jopling C, Collod-Beroud G, Rezsohazy R and Zaffran S | | | | Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders | Riquin K, Isidor B, Mercier S, Nizon M, Colin E, Bonneau D, Pasquier L, Odent S, Le Guillou Horn XM, Le Guyader G, Toutain A, Meyer V, Deleuze JF, Pichon O, Doco-Fenzy M, Bezieau S and Cogne B | | | | Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting | Soilly AL, Robert-Viard C, Besse C, Bruel AL, Gerard B, Boland A, Piton A, Duffourd Y, Muller J, Poe C, Jouan T, El Doueiri S, Faivre L, Bacq-Daian D, Isidor B, Genevieve D, Odent S, Philip N, Doco-Fenzy M, Lacombe D, Asensio ML, Deleuze JF, Binquet C, Group DI, Thauvin-Robinet C and Lejeune C | | | | A critical spotlight on the paradigms of FFPE-DNA sequencing | Steiert TA, Parra G, Gut M, Arnold N, Trotta JR, Tonda R, Moussy A, Gerber Z, Abuja PM, Zatloukal K, Rocken C, Folseraas T, Grimsrud MM, Vogel A, Goeppert B, Roessler S, Hinz S, Schafmayer C, Rosenstiel P, Deleuze JF, Gut IG, Franke A and Forster M | | | | Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers | Sugier PE, Lucotte EA, Domenighetti C, Law MH, Iles MM, Brown K, Amos C, McKay JD, Hung RJ, Karimi M, Bacq-Daian D, Boland-Auge A, Olaso R, Deleuze JF, Lesueur F, Ostroumova E, Kesminiene A, de Vathaire F, Guenel P, consortium E, Sreelatha AAK, Schulte C, Grover S, May P, Bobbili DR, Radivojkov-Blagojevic M, Lichtner P, Singleton AB, Hernandez DG, Edsall C, Mellick GD, Zimprich A, Pirker W, Rogaeva E, Lang AE, Koks S, Taba P, Lesage S, Brice A, Corvol JC, Chartier-Harlin MC, Mutez E, Brockmann K, Deutschlander AB, Hadjigeorgiou GM, Dardiotis E, Stefanis L, Simitsi AM, Valente EM, Petrucci S, Straniero L, Zecchinelli A, Pezzoli G, Brighina L, Ferrarese C, Annesi G, Quattrone A, Gagliardi M, Matsuo H, Nakayama A, Hattori N, Nishioka K, Chung SJ, Kim YJ, Kolber P, van de Warrenburg BPC, Bloem BR, Aasly J, Toft M, Pihlstrom L, Guedes LC, Ferreira JJ, Bardien S, Carr J, Tolosa E, Ezquerra M, Pastor P, Diez-Fairen M, Wirdefeldt K, Pedersen N, Ran C, Belin AC, Puschmann A, Rodstrom EY, Clarke CE, Morrison KE, Tan M, Krainc D, Burbulla LF, Farrer MJ, Kruger R, Gasser T, Sharma M, Comprehensive Unbiased Risk Factor Assessment for G, Environment in Parkinson's Disease c, Truong T and Elbaz A | | | | Do not be scared of the genome's 5th base-Explaining phenotypic variability and evolutionary dynamics through DNA methylation analysis | | | | | Characterisation of gut microbiota composition in patients with axial spondyloarthritis and its modulation by TNF inhibitor treatment | Vallier M, Segurens B, Larsonneur E, Meyer V, Ferreira S, Caloustian C, Deleuze JF, Dougados M, Chamaillard M and Miceli-Richard C | | | | Application of Genomic Sequencing to Refine Patient Stratification for Adjuvant Therapy in Renal Cell Carcinoma | Vasudev NS, Scelo G, Glennon KI, Wilson M, Letourneau L, Eveleigh R, Nourbehesht N, Arseneault M, Paccard A, Egevad L, Viksna J, Celms E, Jackson SM, Abedi-Ardekani B, Warren AY, Selby PJ, Trainor S, Kimuli M, Cartledge J, Soomro N, Adeyoju A, Patel PM, Wozniak MB, Holcatova I, Brisuda A, Janout V, Chanudet E, Zaridze D, Moukeria A, Shangina O, Foretova L, Navratilova M, Mates D, Jinga V, Bogdanovic L, Kovacevic B, Cambon-Thomsen A, Bourque G, Brazma A, Tost J, Brennan P, Lathrop M, Riazalhosseini Y and Banks RE | | | | DNA hypomethylation of the host tree impairs interaction with mutualistic ectomycorrhizal fungus | Vigneaud J, Kohler A, Sow MD, Delaunay A, Fauchery L, Guinet F, Daviaud C, Barry KW, Keymanesh K, Johnson J, Singan V, Grigoriev I, Fichot R, Conde D, Perales M, Tost J, Martin FM, Allona I, Strauss SH, Veneault-Fourrey C and Maury S | | | | Polygenic risk of Major Depressive Disorder as a risk factor for Venous Thromboembolism | Ward J, Le NQ, Suryakant S, Brody JA, Amouyel P, Boland A, Brown R, Cullen B, Debette S, Deleuze JF, Emmerich J, Graham N, Germain M, Anderson JJ, Pell JP, Lyall DM, Lyall LM, Smith DJ, Wiggins KL, Soria JM, Souto JC, Morange PE, Smith NL, Tregouet D, Sabater-Lleal M and Strawbridge RJ | | | | Shared Heritability of Blood Pressure and Pulse Wave Velocity: Insights From the STANISLAS Cohort | Xhaard C, de Villemereuil P, Benetos A, Bozec E, Dandine-Roulland C, Le Floch E, Regnault V, Lacolley P, Zannad F, Rossignol P and Girerd N | | | | Genetic architecture of spatial electrical biomarkers for cardiac arrhythmia and relationship with cardiovascular disease | Young WJ, Haessler J, Benjamins JW, Repetto L, Yao J, Isaacs A, Harper AR, Ramirez J, Garnier S, van Duijvenboden S, Baldassari AR, Concas MP, Duong T, Foco L, Isaksen JL, Mei H, Noordam R, Nursyifa C, Richmond A, Santolalla ML, Sitlani CM, Soroush N, Theriault S, Trompet S, Aeschbacher S, Ahmadizar F, Alonso A, Brody JA, Campbell A, Correa A, Darbar D, De Luca A, Deleuze JF, Ellervik C, Fuchsberger C, Goel A, Grace C, Guo X, Hansen T, Heckbert SR, Jackson RD, Kors JA, Lima-Costa MF, Linneberg A, Macfarlane PW, Morrison AC, Navarro P, Porteous DJ, Pramstaller PP, Reiner AP, Risch L, Schotten U, Shen X, Sinagra G, Soliman EZ, Stoll M, Tarazona-Santos E, Tinker A, Trajanoska K, Villard E, Warren HR, Whitsel EA, Wiggins KL, Arking DE, Avery CL, Conen D, Girotto G, Grarup N, Hayward C, Jukema JW, Mook-Kanamori DO, Olesen MS, Padmanabhan S, Psaty BM, Pattaro C, Ribeiro ALP, Rotter JI, Stricker BH, van der Harst P, van Duijn CM, Verweij N, Wilson JG, Orini M, Charron P, Watkins H, Kooperberg C, Lin HJ, Wilson JF, Kanters JK, Sotoodehnia N, Mifsud B, Lambiase PD, Tereshchenko LG and Munroe PB | | | | Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2 | Zhu G, Badonyi M, Franklin L, Seabra L, Rice GI, Anne Boland A, Deleuze JF, El-Chehadeh S, Anheim M, de Saint-Martin A, Pellegrini S, Marsh JA, Crow YJ and El-Daher MT | | | | Genetic factors for differentiated thyroid cancer in French Polynesia: new candidate loci | Zidane M, Haber M, Truong T, Rachedi F, Ory C, Chevillard S, Blanche H, Olaso R, Boland A, Conte E, Karimi M, Ren Y, Xhaard C, Souchard V, Gardon J, Taquet M, Bouville A, Deleuze JF, Drozdovitch V, de Vathaire F and Cazier JB | | | | La transcriptomique en cellule unique pour étudier des maladies neurodégénératives | | | | | La transcriptomique en cellule unique pour étudier des maladies neurodégénératives | | | | | 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 | | |
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