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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, Lehtimäki 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; Alzheimer’s Disease Sequencing Project; 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, Farrer LA. Bis JC, et al. Among authors: charbonnier c. Mol Psychiatry. 2020 Aug;25(8):1901-1903. doi: 10.1038/s41380-019-0529-7. Mol Psychiatry. 2020. PMID: 31636380 Free PMC article.
Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers.
Nicolas G, Charbonnier C, de Lemos RR, Richard AC, Guillin O, Wallon D, Legati A, Geschwind D, Coppola G, Frebourg T, Campion D, de Oliveira JR, Hannequin D; collaborators from the French IBGC study Group. Nicolas G, et al. Among authors: charbonnier c. Am J Med Genet B Neuropsychiatr Genet. 2015 Oct;168(7):586-94. doi: 10.1002/ajmg.b.32336. Epub 2015 Jun 30. Am J Med Genet B Neuropsychiatr Genet. 2015. PMID: 26129893
De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease.
Rovelet-Lecrux A, Charbonnier C, Wallon D, Nicolas G, Seaman MN, Pottier C, Breusegem SY, Mathur PP, Jenardhanan P, Le Guennec K, Mukadam AS, Quenez O, Coutant S, Rousseau S, Richard AC, Boland A, Deleuze JF, Frebourg T, Hannequin D, Campion D; CNR-MAJ collaborators. Rovelet-Lecrux A, et al. Among authors: charbonnier c. Mol Psychiatry. 2015 Sep;20(9):1046-56. doi: 10.1038/mp.2015.100. Epub 2015 Jul 21. Mol Psychiatry. 2015. PMID: 26194182
Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons.
Nicolas G, Wallon D, Charbonnier C, Quenez O, Rousseau S, Richard AC, Rovelet-Lecrux A, Coutant S, Le Guennec K, Bacq D, Garnier JG, Olaso R, Boland A, Meyer V, Deleuze JF, Munter HM, Bourque G, Auld D, Montpetit A, Lathrop M, Guyant-Maréchal L, Martinaud O, Pariente J, Rollin-Sillaire A, Pasquier F, Le Ber I, Sarazin M, Croisile B, Boutoleau-Bretonnière C, Thomas-Antérion C, Paquet C, Sauvée M, Moreaud O, Gabelle A, Sellal F, Ceccaldi M, Chamard L, Blanc F, Frebourg T, Campion D, Hannequin D. Nicolas G, et al. Among authors: charbonnier c. Eur J Hum Genet. 2016 May;24(5):710-6. doi: 10.1038/ejhg.2015.173. Epub 2015 Aug 5. Eur J Hum Genet. 2016. PMID: 26242991 Free PMC article.
SORL1 rare variants: a major risk factor for familial early-onset Alzheimer's disease.
Nicolas G, Charbonnier C, Wallon D, Quenez O, Bellenguez C, Grenier-Boley B, Rousseau S, Richard AC, Rovelet-Lecrux A, Le Guennec K, Bacq D, Garnier JG, Olaso R, Boland A, Meyer V, Deleuze JF, Amouyel P, Munter HM, Bourque G, Lathrop M, Frebourg T, Redon R, Letenneur L, Dartigues JF, Génin E, Lambert JC, Hannequin D, Campion D; CNR-MAJ collaborators. Nicolas G, et al. Among authors: charbonnier c. Mol Psychiatry. 2016 Jun;21(6):831-6. doi: 10.1038/mp.2015.121. Epub 2015 Aug 25. Mol Psychiatry. 2016. PMID: 26303663
ABCA7 rare variants and Alzheimer disease risk.
Le Guennec K, Nicolas G, Quenez O, Charbonnier C, Wallon D, Bellenguez C, Grenier-Boley B, Rousseau S, Richard AC, Rovelet-Lecrux A, Bacq D, Garnier JG, Olaso R, Boland A, Meyer V, Deleuze JF, Amouyel P, Munter HM, Bourque G, Lathrop M, Frebourg T, Redon R, Letenneur L, Dartigues JF, Pasquier F, Rollin-Sillaire A, Génin E, Lambert JC, Hannequin D, Campion D; CNR-MAJ collaborators. Le Guennec K, et al. Among authors: charbonnier c. Neurology. 2016 Jun 7;86(23):2134-7. doi: 10.1212/WNL.0000000000002627. Epub 2016 Apr 1. Neurology. 2016. PMID: 27037229 Free PMC article.
17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression.
Le Guennec K, Quenez O, Nicolas G, Wallon D, Rousseau S, Richard AC, Alexander J, Paschou P, Charbonnier C, Bellenguez C, Grenier-Boley B, Lechner D, Bihoreau MT, Olaso R, Boland A, Meyer V, Deleuze JF, Amouyel P, Munter HM, Bourque G, Lathrop M, Frebourg T, Redon R, Letenneur L, Dartigues JF, Martinaud O, Kalev O, Mehrabian S, Traykov L, Ströbel T, Le Ber I, Caroppo P, Epelbaum S, Jonveaux T, Pasquier F, Rollin-Sillaire A, Génin E, Guyant-Maréchal L, Kovacs GG, Lambert JC, Hannequin D, Campion D, Rovelet-Lecrux A. Le Guennec K, et al. Among authors: charbonnier c. Mol Psychiatry. 2017 Aug;22(8):1119-1125. doi: 10.1038/mp.2016.226. Epub 2016 Dec 13. Mol Psychiatry. 2017. PMID: 27956742
Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls.
Bellenguez C, Charbonnier C, Grenier-Boley B, Quenez O, Le Guennec K, Nicolas G, Chauhan G, Wallon D, Rousseau S, Richard AC, Boland A, Bourque G, Munter HM, Olaso R, Meyer V, Rollin-Sillaire A, Pasquier F, Letenneur L, Redon R, Dartigues JF, Tzourio C, Frebourg T, Lathrop M, Deleuze JF, Hannequin D, Genin E, Amouyel P, Debette S, Lambert JC, Campion D; CNR MAJ collaborators. Bellenguez C, et al. Among authors: charbonnier c. Neurobiol Aging. 2017 Nov;59:220.e1-220.e9. doi: 10.1016/j.neurobiolaging.2017.07.001. Epub 2017 Jul 14. Neurobiol Aging. 2017. PMID: 28789839
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