| 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 | | | | Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations | Coursimault J, Lecoquierre F, Saugier-Veber P, Drouin-Garraud V, Lechevallier J, Boland A, Deleuze JF, Frebourg T, Nicolas G and Brehin AC | | | | Identification of biological pathways specific to phases preceding rheumatoid arthritis development through gene expression profiling | Dalmasso C, Derbois C, Veyssiere M, Olaso R, Lamacchia C, Alpizar-Rodriguez D, Deleuze JF, Finckh A and Petit-Teixeira E | | | | 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 | | | | A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome | Delvallee C, Nicaise S, Antin M, Leuvrey AS, Nourisson E, Leitch CC, Kellaris G, Stoetzel C, Geoffroy V, Scheidecker S, Keren B, Depienne C, Klar J, Dahl N, Deleuze JF, Genin E, Redon R, Demurger F, Devriendt K, Mathieu-Dramard M, Poitou-Bernert C, Odent S, Katsanis N, Mandel JL, Davis EE, Dollfus H and Muller J | | | | 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 | | | | Genetics and Cognitive Vulnerability to Sleep Deprivation in Healthy Subjects: Interaction of ADORA2A, TNF-alpha and COMT Polymorphisms | Erblang M, Drogou C, Gomez-Merino D, Rabat A, Guillard M, Beers PV, Quiquempoix M, Boland A, Deleuze JF, Olaso R, Derbois C, Prost M, Dorey R, Leger D, Thomas C, Chennaoui M and Sauvet F | | | | Gender specific airway gene expression in COPD sub-phenotypes supports a role of mitochondria and of different types of leukocytes | Esteve-Codina A, Hofer TP, Burggraf D, Heiss-Neumann MS, Gesierich W, Boland A, Olaso R, Bihoreau MT, Deleuze JF, Moeller W, Schmid O, Soler Artigas M, Renner K, Hohlfeld JM, Welte T, Fuehner T, Jerrentrup L, Koczulla AR, Greulich T, Prasse A, Muller-Quernheim J, Gupta S, Brightling C, Subramanian DR, Parr DG, Kolsum U, Gupta V, Barta I, Dome B, Strausz J, Stendardo M, Piattella M, Boschetto P, Korzybski D, Gorecka D, Nowinski A, Dabad M, Fernandez-Callejo M, Endesfelder D, Zu Castell W, Hiemstra PS, Venge P, Noessner E, Griebel T, Heath S, Singh D, Gut I and Ziegler-Heitbrock L | | | | Placental DNA methylation signatures of maternal smoking during pregnancy and potential impacts on fetal growth | Everson TM, Vives-Usano M, Seyve E, Cardenas A, Lacasana M, Craig JM, Lesseur C, Baker ER, Fernandez-Jimenez N, Heude B, Perron P, Gonzalez-Alzaga B, Halliday J, Deyssenroth MA, Karagas MR, Iniguez C, Bouchard L, Carmona-Saez P, Loke YJ, Hao K, Belmonte T, Charles MA, Martorell-Marugan J, Muggli E, Chen J, Fernandez MF, Tost J, Gomez-Martin A, London SJ, Sunyer J, Marsit CJ, Lepeule J, Hivert MF and Bustamante M | | | | Comprehensive miRNome-Wide Profiling in a Neuronal Cell Model of Synucleinopathy Implies Involvement of Cell Cycle Genes | Findeiss E, Schwarz SC, Evsyukov V, Rosler TW, Hollerhage M, Chakroun T, Nykanen NP, Shen YM, Wurst W, Kohl M, Tost J and Hoglinger GU | Frontiers in Cell and Developmental Biology 9 (), 561086, 2021 | | | Heterogeneity of SARS-CoV-2 virus produced in cell culture revealed by shotgun proteomics and supported by genome sequencing | Gallais F, Pible O, Gaillard JC, Debroas S, Batina H, Ruat S, Sandron F, Delafoy D, Gerber Z, Olaso R, Gas F, Bellanger L, Deleuze JF, Grenga L and Armengaud J | | | | The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD | Gargaun E, Falcone S, Sole G, Durigneux J, Urtizberea A, Cuisset JM, Benkhelifa-Ziyyat S, Julien L, Boland A, Sandron F, Meyer V, Deleuze JF, Salgado D, Desvignes JP, Beroud C, Chessel A, Blesius A, Krahn M, Levy N, Leturcq F and Pietri-Rouxel F | | | | Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23 | Garnier S, Harakalova M, Weiss S, Mokry M, Regitz-Zagrosek V, Hengstenberg C, Cappola TP, Isnard R, Arbustini E, Cook SA, van Setten J, Calis JJA, Hakonarson H, Morley MP, Stark K, Prasad SK, Li J, O'Regan DP, Grasso M, Muller-Nurasyid M, Meitinger T, Empana JP, Strauch K, Waldenberger M, Marguiles KB, Seidman CE, Kararigas G, Meder B, Haas J, Boutouyrie P, Lacolley P, Jouven X, Erdmann J, Blankenberg S, Wichter T, Ruppert V, Tavazzi L, Dubourg O, Roizes G, Dorent R, de Groote P, Fauchier L, Trochu JN, Aupetit JF, Bilinska ZT, Germain M, Volker U, Hemerich D, Raji I, Bacq-Daian D, Proust C, Remior P, Gomez-Bueno M, Lehnert K, Maas R, Olaso R, Saripella GV, Felix SB, McGinn S, Duboscq-Bidot L, van Mil A, Besse C, Fontaine V, Blanche H, Ader F, Keating B, Curjol A, Boland A, Komajda M, Cambien F, Deleuze JF, Dorr M, Asselbergs FW, Villard E, Tregouet DA and Charron P | | | | 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, Jeunemaitre X, Persu A, Kovacic JC, Ganesh SK and Bouatia-Naji N | | | | Association between ABO haplotypes and the risk of venous thrombosis: impact on disease risk estimation | Goumidi L, Thibord F, Wiggins KL, Li-Gao R, Brown MR, van Hylckama Vlieg A, Souto JC, Soria JM, Ibrahim-Kosta M, Saut N, Daian D, Olaso R, Amouyel P, Debette S, Boland A, Bailly P, Morrison AC, Mook-Kanamori DO, Deleuze JF, Johnson A, de Vries PS, Sabater-Lleal M, Chiaroni J, Smith NL, Rosendaal FR, Chasman DI, Tregouet DA and Morange PE | | | | Whole exome sequencing, a hypothesis-free approach to investigate recurrent early miscarriage | Gourhant L, Bocher O, De Saint Martin L, Ludwig TE, Boland A, Deleuze JF, Merviel P, Dupre PF, Lemarie CA, Couturaud F, Le Marechal C, Genin E and Pasquier E | | | | Fine-mapping of two differentiated thyroid carcinoma susceptibility loci at 2q35 and 8p12 in Europeans, Melanesians and Polynesians | Guibon J, Sugier PE, Kulkarni O, Karimi M, Bacq-Daian D, Besse C, Boland A, Adjadj E, Rachedi F, Rubino C, Xhaard C, Mulot C, Laurent-Puig P, Guizard AV, Schvartz C, Ortiz RM, Ren Y, Ostroumova E, Deleuze JF, Boutron-Ruault MC, Kesminiene A, Vathaire F, Guenel P, Lesueur F and Truong T | | | | INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH | Hathazi D, Cox D, D'Amico A, Tasca G, Charlton R, Carlier RY, Baumann J, Kollipara L, Zahedi RP, Feldmann I, Deleuze JF, Torella A, Cohn R, Robinson E, Ricci F, Jungbluth H, Fattori F, Boland A, O'Connor E, Horvath R, Barresi R, Lochmuller H, Urtizberea A, Jacquemont ML, Nelson I, Swan L, Bonne G and Roos A | | | | Evaluation of saliva as a source of accurate whole-genome and microbiome sequencing data | Herzig AF, Velo-Suarez L, Le Folgoc G, Boland A, Blanche H, Olaso R, Le Roux L, Delmas C, Goldberg M, Zins M, Lethimonnier F, Deleuze JF and Genin E | | | | Integrated genomic analysis identifies driver genes and cisplatin-resistant progenitor phenotype in pediatric liver cancer | Hirsch TZ, Pilet J, Morcrette G, Roehrig A, Monteiro BJ, Molina L, Bayard Q, Trepo E, Meunier L, Caruso S, Renault V, Deleuze JF, Fresneau B, Chardot C, Gonzales E, Jacquemin E, Guerin F, Fabre M, Aerts I, Taque S, Laithier V, Branchereau S, Guettier C, Brugieres L, Rebouissou S, Letouze E and Zucman-Rossi J | | | | The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma | Hubert JN, Suybeng V, Vallee M, Delhomme TM, Maubec E, Boland A, Bacq D, Deleuze JF, Jouenne F, Brennan P, McKay JD, Avril MF, Bressac-de Paillerets B and Chanudet E | | | | Transcriptome Analysis of Monocyte-Derived Dendritic Cells from Spondyloarthritis (Spa) Patients Reveals a Major Impact of B27 on Gene Expression | Hulot A, Jobart-Malfait A, Jolly A, Desjardin C, Chaplais E, Talpin A, Costantino F, Hue C, Grassin-Delyle S, Leboime A, Nahal RS, Boland A, Deleuze JF, Breban M and Garchon HJ | Clinical and Experimental Rheumatology 39 (5), 1197-1197, 2021 | | | Molecular profiling of advanced soft-tissue sarcomas: the MULTISARC randomized trial | Italiano A, Dinart D, Soubeyran I, Bellera C, Esperou H, Delmas C, Mercier N, Albert S, Poignie L, Boland A, Bourdon A, Geneste D, Cavaille Q, Laizet Y, Khalifa E, Auzanneau C, Squiban B, Truffaux N, Olaso R, Gerber Z, Wallet C, Benard A, Blay JY, Laurent-Puig P, Deleuze JF, Lucchesi C, Mathoulin-Pelissier S and group Ms | | | | Pregnancy exposure to synthetic phenols and placental DNA methylation - An epigenome-wide association study in male infants from the EDEN cohort | Jedynak P, Tost J, Calafat AM, Bourova-Flin E, Busato F, Forhan A, Heude B, Jakobi M, Rousseaux S, Schwartz J, Slama R, Vaiman D, Philippat C and Lepeule J | | | | Genome-wide haplotype association study in imaging genetics using whole-brain sulcal openings of 16,304 UK Biobank subjects | Karkar S, Dandine-Roulland C, Mangin JF, Le Guen Y, Philippe C, Deleuze JF, Pierre-Jean M, Le Floch E and Frouin V | | | | Monocyte transcriptomes from patients with axial spondyloarthritis reveal dysregulated monocytopoiesis and a distinct inflammatory imprint | Karow F, Smiljanovic B, Grun JR, Poddubnyy D, Proft F, Talpin A, Hue C, Boland A, Deleuze JF, Garchon HJ, Ergenc I, De Craemer AS, Erben U, Haupl T, Elewaut D, Breban M, Grutzkau A and Syrbe U | | | | No methylome differences observed in IVF children born after embryo culture in different culture media | Koeck R, Tost J, Busato F, Consten D, Van Echten-Arends J, Mastenbroek S, Wurth Y, Zandstra H, Van Golde R, Dumoulin J, Brunner H, Esteki MZ and Van Montfoort A | | | | Gene network and biological pathways associated with susceptibility to differentiated thyroid carcinoma | Kulkarni O, Sugier PE, Guibon J, Boland-Auge A, Lonjou C, Bacq-Daian D, Olaso R, Rubino C, Souchard V, Rachedi F, Lence-Anta JJ, Ortiz RM, Xhaard C, Laurent-Puig P, Mulot C, Guizard AV, Schvartz C, Boutron-Ruault MC, Ostroumova E, Kesminiene A, Deleuze JF, Guenel P, De Vathaire F, Truong T and Lesueur F | | | | Sexual Dimorphism in Cancer: Insights from Transcriptional Signatures in Kidney Tissue and Renal Cell Carcinoma | Laskar RS, Li P, Ecsedi S, Abedi-Ardekani B, Durand G, Robinot N, Hubert JN, Janout V, Zaridze D, Mukeria A, Mates D, Holcatova I, Foretova L, Swiatkowska B, Dzamic Z, Milosavljevic S, Olaso R, Boland A, Deleuze JF, Muller DC, McKay JD, Brennan P, Le Calvez-Kelm F, Scelo G and Chanudet E | | | | 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 | | | | 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 | | | | Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy | Lornage X, Mallaret M, Silva-Rojas R, Biancalana V, Giovannini D, Dieterich K, Saker S, Deleuze JF, Wuyam B, Laporte J and Bohm J | | | | DNAJC3 deficiency induces beta-cell mitochondrial apoptosis and causes syndromic young-onset diabetes | Lytrivi M, Senee V, Salpea P, Fantuzzi F, Philippi A, Abdulkarim B, Sawatani T, Marin-Canas S, Pachera N, Degavre A, Singh P, Derbois C, Lechner D, Ladriere L, Igoillo-Esteve M, Cosentino C, Marselli L, Deleuze JF, Marchetti P, Eizirik DL, Nicolino M, Chaussenot A, Julier C and Cnop M | | | | 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 | | | | Using RNA-seq to Assess Off-Target Effects of Antisense Oligonucleotides in Human Cell Lines | Michel S, Schirduan K, Shen Y, Klar R, Tost J and Jaschinski F | | | | 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 | | | | Mutations and variants of ONECUT1 in diabetes | Philippi A, Heller S, Costa IG, Senee V, Breunig M, Li Z, Kwon G, Russell R, Illing A, Lin Q, Hohwieler M, Degavre A, Zalloua P, Liebau S, Schuster M, Krumm J, Zhang X, Geusz R, Benthuysen JR, Wang A, Chiou J, Gaulton K, Neubauer H, Simon E, Klein T, Wagner M, Nair G, Besse C, Dandine-Roulland C, Olaso R, Deleuze JF, Kuster B, Hebrok M, Seufferlein T, Sander M, Boehm BO, Oswald F, Nicolino M, Julier C and Kleger A | | | | Analysis and annotation of DNA methylation in two nonhuman primate species using the Infinium Human Methylation 450K and EPIC BeadChips | Pichon F, Shen YM, Busato F, Jochems SP, Jacquelin B, Le Grand R, Deleuze JF, Muller-Trutwin M and Tost J | | | | PIntMF: Penalized Integrative Matrix Factorization method for Multi-omics data | Pierre-Jean M, Mauger F, Deleuze JF and Le Floch E | | | | Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation | Quenez O, Cassinari K, Coutant S, Lecoquierre F, Le Guennec K, Rousseau S, Richard AC, Vasseur S, Bouvignies E, Bou J, Lienard G, Manase S, Fourneaux S, Drouot N, Nguyen-Viet V, Vezain M, Chambon P, Joly-Helas G, Le Meur N, Castelain M, Boland A, Deleuze JF, Tournier I, Charbonnier F, Kasper E, Bougeard G, Frebourg T, Saugier-Veber P, Baert-Desurmont S, Campion D, Rovelet-Lecrux A and Nicolas G | | | | African Gene Flow Reduces Beta-Ionone Anosmia/Hyposmia Prevalence in Admixed Malagasy Populations | Razafindrazaka H, Pereda-Loth V, Ferdenzi C, Heiske M, Alva O, Randriamialisoa M, Costedoat C, Signoli M, Talou T, Courtade-Saidi M, Boland A, Deleuze JF, Rouby C, Radimilahy C, Letellier T, Bensafi M and Pierron D | | | | An artificial neural network approach integrating plasma proteomics and genetic data identifies PLXNA4 as a new susceptibility locus for pulmonary embolism | Razzaq M, Iglesias MJ, Ibrahim-Kosta M, Goumidi L, Soukarieh O, Proust C, Roux M, Suchon P, Boland A, Daiain D, Olaso R, Havervall S, Thalin C, Butler L, Deleuze JF, Odeberg J, Morange PE and Tregouet DA | | | | Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia | Rimbert A, Vanhoye X, Coulibaly D, Marrec M, Pichelin M, Charriere S, Peretti N, Valero R, Wargny M, Carrie A, Lindenbaum P, Deleuze JF, Genin E, Redon R, Rollat-Farnier PA, Goxe D, Degraef G, Marmontel O, Divry E, Bigot-Corbel E, Moulin P, Cariou B and Di Filippo M | | | | Trained Immunity in Atherosclerotic Cardiovascular Disease | Rimbert A, Vanhoye X, Coulibaly D, Marrec M, Pichelin M, Charriere S, Peretti N, Valero R, Wargny M, Carrie A, Lindenbaum P, Deleuze JF, Genin E, Redon R, Rollat-Farnier PA, Goxe D, Degraef G, Marmontel O, Divry E, Bigot-Corbel E, Moulin P, Cariou B and Di Filippo M | Arteriosclerosis, Thrombosis, and Vascular Biology 41 (1), 62-69, 2021 | | | Heterogeneous Hunter-Gatherer and Steppe-Related Ancestries in Late Neolithic and Bell Beaker Genomes from Present-Day France | Seguin-Orlando A, Donat R, Der Sarkissian C, Southon J, Theves C, Manen C, Tcheremissinoff Y, Crubezy E, Shapiro B, Deleuze JF, Dalen L, Guilaine J and Orlando L | | | | RNAi suppression of DNA methylation affects the drought stress response and genome integrity in transgenic poplar | Sow MD, Le Gac AL, Fichot R, Lanciano S, Delaunay A, Le Jan I, Lesage-Descauses MC, Citerne S, Caius J, Brunaud V, Soubigou-Taconnat L, Cochard H, Segura V, Chaparro C, Grunau C, Daviaud C, Tost J, Brignolas F, Strauss SH, Mirouze M and Maury S | | | | 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 | | | | Exome-wide association study identifies FN3KRP and PGP as new candidate longevity genes | Torres GG, Nygaard M, Caliebe A, Blanche H, Chantalat S, Galan P, Lieb W, Christiansen L, Deleuze JF, Christensen K, Strauch K, Muller-Nurasyid M, Peters A, Nothen MM, Hoffmann P, Flachsbart F, Schreiber S, Ellinghaus D, Franke A, Dose J and Nebel A | | | | Multiethnic genome-wide association study of differentiated thyroid cancer in the EPITHYR consortium | Truong T, Lesueur F, Sugier PE, Guibon J, Xhaard C, Karimi M, Kulkarni O, Lucotte EA, Bacq-Daian D, Boland-Auge A, Mulot C, Laurent-Puig P, Schvartz C, Guizard AV, Ren Y, Adjadj E, Rachedi F, Borson-Chazot F, Ortiz RM, Lence-Anta JJ, Pereda CM, Comiskey DF, Jr., He H, Liyanarachchi S, de la Chapelle A, Elisei R, Gemignani F, Thomsen H, Forsti A, Herzig AF, Leutenegger AL, Rubino C, Ostroumova E, Kesminiene A, Boutron-Ruault MC, Deleuze JF, Guenel P and de Vathaire F | | | | Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly | Uguen K, Krysiak K, Audebert-Bellanger S, Redon S, Benech C, Viora-Dupont E, Tran Mau-Them F, Rondeau S, Elsharkawi I, Granadillo JL, Neidich J, Soares CA, Tkachenko N, S MA, Engleman K, Boland A, Deleuze JF, Bezieau S, Odent S, Toutain A, Bonneau D, Gilbert-Dussardier B, Faivre L, Rio M, Le Marechal C, Ferec C, Repnikova E and Cao Y | | | | Heritability of a resting heart rate in a 20-year follow-up family cohort with GWAS data: Insights from the STANISLAS cohort | Xhaard C, Dandine-Roulland C, Villemereuil P, Floch EL, Bacq-Daian D, Machu JL, Ferreira JP, Deleuze JF, Zannad F, Rossignol P and Girerd N | | | | 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 | | | | Role of DNA repair variants and diagnostic radiology exams in differentiated thyroid cancer risk: a pooled-analysis of two case-control studies | Zidane M, Truong T, Lesueur F, Xhaard C, Cordina-Duverger E, Boland A, Blanche H, Ory C, Chevillard S, Deleuze JF, Souchard V, Ren Y, Zemmache MZ, Canale S, Borson-Chazot F, Schvartz C, Marine Barjoan E, Guizard AV, Laurent-Puig P, Mulot C, Guibon J, Karimi M, Schlumberger M, Adjadj E, Rubino C, Guenel P, Cazier JB and de Vathaire F | | | | Circulating miRNAs as Biomarker in Cancer | | | | | The Importance Of Naturally Attenuated Sars-Cov-2 In The Fight Against Covid-19 | Armengaud J, Delaunay-Moisan A, Thuret JY, van Anken E, Acosta-Alvear D, Aragon T, Arias C, Blondel M, Braakman I, Collet JF, Courcol R, Danchin A, Deleuze JF, Lavigne JP, Lucas S, Michiels T, Moore ERB, Nixon-Abell J, Rossello-Mora R, Shi Z, Siccardi AG, Sitia R, Tillett D, Timmis KN, Toledano MB, van der Sluijs P and Vicenzi E | | | | Feasibility of high-throughput sequencing in clinical routine cancer care: lessons from the cancer pilot project of the France Genomic Medicine 2025 plan | Auzanneau C, Bacq D, Bellera C, Blons H, Boland A, Boucheix M, Bourdon A, Chollet E, Chomienne C, Deleuze JF, Delmas C, Dinart D, Esperou H, Geillon F, Geneste D, Italiano A, Jean D, Khalifa E, Laizet Y, Laurent-Puig P, Lethimonnier F, Levy-Marchal C, Lucchesi C, Malle C, Mancini P, Mathoulin-Pelissier S, Meyer V, Palomares M-A, Perkins G, Sellan-Albert S, Soubeyran I and Wallet C | | | | The impact of microRNAs on alterations of gene regulatory networks in allergic diseases | Baskara-Yhuellou I and Tost J | | | | Insights into human genetic variation and population history from 929 diverse genomes | Bergstrom A, McCarthy SA, Hui RY, Almarri MA, Ayub Q, Danecek P, Chen Y, Felkel S, Hallast P, Kamm J, Blanche H, Deleuze JF, Cann H, Mallick S, Reich D, Sandhu MS, Skoglund P, Scally A, Xue YL, Durbin R and Tyler-Smith C | | | | Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation | Bis JC, Jian X, Kunkle BW, Chen Y, Hamilton-Nelson KL, Bush WS, Salerno WJ, Lancour D, Ma Y, Renton AE, Marcora E, Farrell JJ, Zhao Y, Qu L, Ahmad S, Amin N, Amouyel P, Beecham GW, Below JE, Campion D, Cantwell L, Charbonnier C, Chung J, Crane PK, Cruchaga C, Cupples LA, Dartigues JF, Debette S, Deleuze JF, Fulton L, Gabriel SB, Genin E, Gibbs RA, Goate A, Grenier-Boley B, Gupta N, Haines JL, Havulinna AS, Helisalmi S, Hiltunen M, Howrigan DP, Ikram MA, Kaprio J, Konrad J, Kuzma A, Lander ES, Lathrop M, Lehtimaki T, Lin H, Mattila K, Mayeux R, Muzny DM, Nasser W, Neale B, Nho K, Nicolas G, Patel D, Pericak-Vance MA, Perola M, Psaty BM, Quenez O, Rajabli F, Redon R, Reitz C, Remes AM, Salomaa V, Sarnowski C, Schmidt H, Schmidt M, Schmidt R, Soininen H, Thornton TA, Tosto G, Tzourio C, van der Lee SJ, van Duijn CM, Valladares O, Vardarajan B, Wang LS, Wang W, Wijsman E, Wilson RK, Witten D, Worley KC, Zhang X, Bellenguez C, Lambert JC, Kurki MI, Palotie A, Daly M, Boerwinkle E, Lunetta KL, Destefano AL, Dupuis J, Martin ER, Schellenberg GD, Seshadri S, Naj AC, Fornage M and Farrer LA | | | | Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation | Bis JC, Jian X, Kunkle BW, Chen Y, Hamilton-Nelson KL, Bush WS, Salerno WJ, Lancour D, Ma Y, Renton AE, Marcora E, Farrell JJ, Zhao Y, Qu L, Ahmad S, Amin N, Amouyel P, Beecham GW, Below JE, Campion D, Cantwell L, Charbonnier C, Chung J, Crane PK, Cruchaga C, Cupples LA, Dartigues JF, Debette S, Deleuze JF, Fulton L, Gabriel SB, Genin E, Gibbs RA, Goate A, Grenier-Boley B, Gupta N, Haines JL, Havulinna AS, Helisalmi S, Hiltunen M, Howrigan DP, Ikram MA, Kaprio J, Konrad J, Kuzma A, Lander ES, Lathrop M, Lehtimaki T, Lin H, Mattila K, Mayeux R, Muzny DM, Nasser W, Neale B, Nho K, Nicolas G, Patel D, Pericak-Vance MA, Perola M, Psaty BM, Quenez O, Rajabli F, Redon R, Reitz C, Remes AM, Salomaa V, Sarnowski C, Schmidt H, Schmidt M, Schmidt R, Soininen H, Thornton TA, Tosto G, Tzourio C, van der Lee SJ, van Duijn CM, Valladares O, Vardarajan B, Wang LS, Wang W, Wijsman E, Wilson RK, Witten D, Worley KC, Zhang X, Bellenguez C, Lambert JC, Kurki MI, Palotie A, Daly M, Boerwinkle E, Lunetta KL, Destefano AL, Dupuis J, Martin ER, Schellenberg GD, Seshadri S, Naj AC, Fornage M and Farrer LA | | | | Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element | Cassinari K, Rovelet-Lecrux A, Tury S, Quenez O, Richard AC, Charbonnier C, Olaso R, Boland A, Deleuze JF, Besancenot JF, Delpont B, Pouliquen D, Lecoquierre F, Chambon P, Thauvin-Robinet C, Campion D, Frebourg T, Battini JL and Nicolas G | | | | Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability | Chevarin M, Duffourd Y, R AB, Moutton S, Lecoquierre F, Daoud F, Kuentz P, Cabret C, Thevenon J, Gautier E, Callier P, St-Onge J, Jouan T, Lacombe D, Delrue MA, Goizet C, Morice-Picard F, Van-Gils J, Munnich A, Lyonnet S, Cormier-Daire V, Baujat G, Holder M, Petit F, Leheup B, Odent S, Jouk PS, Lopez G, Genevieve D, Collignon P, Martin-Coignard D, Jacquette A, Perrin L, Putoux A, Sarrazin E, Amarof K, Missotte I, Coubes C, Jagadeesh S, Lapi E, Demurger F, Goldenberg A, Doco-Fenzy M, Mignot C, Heron D, Jean-Marcais N, Masurel A, El Chehadeh S, Marle N, Huet F, Binquet C, Collod-Beroud G, Arnaud P, Hanna N, Boileau C, Jondeau G, Olaso R, Lechner D, Poe C, Assoum M, Carmignac V, Duplomb L, Tran Mau-Them F, Philippe C, Vitobello A, Bruel AL, Boland A, Deleuze JF, Thauvin-Robinet C, Riviere JB, O'Roak BJ and Faivre L | | | | Pan-cancer analysis of whole genomes | | Nature 578 (7793), 82-93, 2020 | | | Multi-omic analysis of gametogenesis reveals a novel signature at the promoters and distal enhancers of active genes | Crespo M, Damont A, Blanco M, Lastrucci E, Kennani SE, Ialy-Radio C, Khattabi LE, Terrier S, Louwagie M, Kieffer-Jaquinod S, Hesse AM, Bruley C, Chantalat S, Govin J, Fenaille F, Battail C, Cocquet J and Pflieger D | | | | Use of External Controls for Whole Genome Sequencing Data - Quality Control Considerations | Dandine-Roulland C, Resch L, Sandron F, Sahbatou M, Bacq-Daian D, Blanche H, Meyer V, Deleuze JF and Le Floch E | Human Heredity 84 (4-5), 207-208, 2020 | | | Developmental Methylome of the Medicinal PlantCatharanthus roseusUnravels the Tissue-Specific Control of the Monoterpene Indole Alkaloid Pathway by DNA Methylation | de Bernonville TD, Maury S, Delaunay A, Daviaud C, Chaparro C, Tost J, O'Connor SE and Courdavault V | | | | Association of a single nucleotide polymorphism in the ubxn6 gene with long-term non-progression phenotype in HIV-positive individuals | Diez-Fuertes F, De La Torre-Tarazona HE, Calonge E, Pernas M, Bermejo M, Garcia-Perez J, Alvarez A, Capa L, Garcia-Garcia F, Saumoy M, Riera M, Boland-Auge A, Lopez-Galindez C, Lathrop M, Dopazo J, Sakuntabhai A and Alcami J | | | | Genotyping on blood and buccal cells using loop-mediated isothermal amplification in healthy humans | Drogou C, Sauvet F, Erblang M, Detemmerman L, Derbois C, Erkel MC, Boland A, Deleuze JF, Gomez-Merino D and Chennaoui M | | | | Molecular Mechanisms of Trophoblast Dysfunction Mediated by Imbalance between STOX1 Isoforms | Ducat A, Couderc B, Bouter A, Biquard L, Aouache R, Passet B, Doridot L, Cohen MB, Ribaux P, Apicella C, Gaillard I, Palfray S, Chen YL, Vargas A, Jule A, Frelin L, Cocquet J, San Martin CR, Jacques S, Busato F, Tost J, Mehats C, Laissue P, Vilotte JL, Miralles F and Vaiman D | | | | Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology | Elouej S, Harhouri K, Mao ML, Baujat G, Nampoothiri S, Kayserili H, Menabawy NA, Selim L, Paneque AL, Kubisch C, Lessel D, Rubinsztajn R, Charar C, Bartoli C, Airault C, Deleuze JF, Rotig A, Bauer P, Pereira C, Loh A, Escande-Beillard N, Muchir A, Martino L, Gruenbaum Y, Lee SH, Manivet P, Lenaers G, Reversade B, Levy N and De Sandre-Giovannoli A | | | | Circulating plasma proteins and new-onset diabetes in a population-based study: proteomic and genomic insights from the STANISLAS cohort | Ferreira JP, Lamiral Z, Xhaard C, Duarte K, Bresso E, Devignes MD, Le Floch E, Roulland CD, Deleuze JF, Wagner S, Guerci B, Girerd N, Zannad F, Boivin JM and Rossignol P | | | | PCSK9 Protein and rs562556 Polymorphism Are Associated With Arterial Plaques in Healthy Middle-Aged Population: The STANISLAS Cohort | Ferreira JP, Xhaard C, Lamiral Z, Borges-Canha M, Neves JS, Dandine-Roulland C, LeFloch E, Deleuze JF, Bacq-Daian D, Bozec E, Girerd N, Boivin JM, Zannad F and Rossignol P | | | | Exploring the Link Between Additive Heritability and Prediction Accuracy From a Ridge Regression Perspective | Frouin A, Dandine-Roulland C, Pierre-Jean M, Deleuze JF, Ambroise C and Le Floch E | | | | Improvements and inter-laboratory implementation and optimization of blood-based single-locus age prediction models using DNA methylation of the ELOVL2 promoter | Garali I, Sahbatou M, Daunay A, Baudrin LG, Renault V, Bouyacoub Y, Deleuze JF and How-Kit A | | | | Phenotype and genotype characterization as predictors of DMD 45 to 55 multi-exon skipping therapy | Gargaun E, Bassez G, Wahbi K, Ben Yaou R, Guibaud M, Sole G, Tiffreau V, Laforet P, Parent M, Husson M, Urtizberea A, Eymard B, Boland A, Deleuze J, Salgado D, Khran M, Levy N, Blesius A, Leturcq F and Pietri-Rouxel F | Neuromuscular Disorders 30 (), S81-S81, 2020 | | | Genome wide association analysis in dilated cardiomyopathy revealed two new susceptibility loci for systolic heart failure | Garnier S, Harakalova M, Weiss S, Mokry M, van Setten J, Proust C, Duboscq-Bidot L, Boland A, Deleuze J, Dorr M, Asselbergs F, Cambien F, Villard E, Tregouet D and Charron P | | | | Blood eosinophil count and airway epithelial transcriptome relationships in COPD versus asthma | George L, Taylor AR, Esteve-Codina A, Soler Artigas M, Thun GA, Bates S, Pavlidis S, Wagers S, Boland A, Prasse A, Boschetto P, Parr DG, Nowinski A, Barta I, Hohlfeld J, Greulich T, van den Berge M, Hiemstra PS, Timens W, Hinks T, Wenzel S, Siddiqui S, Richardson M, Venge P, Heath S, Gut I, Tobin MD, Edwards L, Riley JH, Djukanovic R, Auffray C, De-Meulder B, Erik-Dahlen S, Adcock IM, Chung KF, Ziegler-Heitbrock L, Sterk PJ, Singh D and Brightling CE | | | | Family-based genome-wide association study of leprosy in Vietnam | Gzara C, Dallmann-Sauer M, Orlovam M, Thuc NV, Thai VH, Fava VM, Bihoreau MT, Boland A, Abel L, Alcais A, Schurr E and Cobat A | | | | Predictive molecular pathology in non-small cell lung cancer in France: The past, the present and the perspectives | Hofman P, Rouleau E, Sabourin JC, Denis M, Deleuze JF, Barlesi F and Laurent-Puig P | | | | Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use | Husson T, Lecoquierre F, Cassinari K, Charbonnier C, Quenez O, Goldenberg A, Guerrot AM, Richard AC, Drouin-Garraud V, Brehin AC, Soleimani M, Taton R, Rotharmel M, Rosier A, Chambon P, Le Meur N, Joly-Helas G, Saugier-Veber P, Boland A, Deleuze JF, Olaso R, Frebourg T, Nicolas G, Guillin O and Campion D | | | | DNA methylation changes in metabolic and immune-regulatory pathways in blood and lymph node CD4 + T cells in response to SIV infections | Jochems SP, Jacquelin B, Tchitchek N, Busato F, Pichon F, Huot N, Liu Y, Ploquin MJ, Roche E, Cheynier R, Dereuddre-Bosquet N, Stahl-Henning C, Le Grand R, Tost J and Muller-Trutwin M | | | | Recent findings in the genetics and epigenetics of asthma and allergy | | | | | PLCG2 protective variant p.P522R modulates tau pathology and disease progression in patients with mild cognitive impairment | Kleineidam L, Chouraki V, Prochnicki T, van der Lee SJ, Madrid-Marquez L, Wagner-Thelen H, Karaca I, Weinhold L, Wolfsgruber S, Boland A, Martino Adami PV, Lewczuk P, Popp J, Brosseron F, Jansen IE, Hulsman M, Kornhuber J, Peters O, Berr C, Heun R, Frolich L, Tzourio C, Dartigues JF, Hull M, Espinosa A, Hernandez I, de Rojas I, Orellana A, Valero S, Stringa N, van Schoor NM, Huisman M, Scheltens P, Ruther E, Deleuze JF, Wiltfang J, Tarraga L, Schmid M, Scherer M, Riedel-Heller S, Heneka MT, Amouyel P, Jessen F, Boada M, Maier W, Schneider A, Gonzalez-Perez A, van der Flier WM, Wagner M, Lambert JC, Holstege H, Saez ME, Latz E, Ruiz A and Ramirez A | | | | Loss of Fragile X Mental Retardation Protein (Fmrp) Precedes Lewy Pathology in Parkinson's Disease | Koeglsperger T, Tan Y, Sgobio C, Arzberger T, Machleid F, Tang Q, Findeis E, Tost J, Chakroun T, Gao P, Hollerhage M, Botzel K, Herms J and Hoglinger G | | | | Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress | Kroll-Hermi A, Ebstein F, Stoetzel C, Geoffroy V, Schaefer E, Scheidecker S, Bar S, Takamiya M, Kawakami K, Zieba BA, Studer F, Pelletier V, Speeg-Schatz C, Laugel V, Lipsker D, Sandron F, McGinn S, Boland A, Deleuze JF, Kuhn L, Chicher J, Hammann P, Friant S, Etard C, Kruger E, Muller J, Strahle U and Dollfus H | | | | A novel rare c.-39C > T mutation in the PROS1 5 ' UTR causing PS deficiency by creating a new upstream translation initiation codone | Labrouche-Colomer S, Soukarieh O, Proust C, Mouton C, Huguenin Y, Roux M, Besse C, Boland A, Olaso R, Constans J, Deleuze JF, Morange PE, Jaspard-Vinassa B, Tregouet DA and GenMed C | | |
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