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Page 1
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, Küçükali F, Eger SJ, Rasmussen KL, Thomassen JQ, Deleuze JF, He Z, Napolioni V, Amouyel P, Jessen F, Kehoe PG, van Duijn C, Tsolaki M, Sánchez-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, GR@ACE, DEGESCO, DemGene, GERAD, and EADI Groups; Arosio B, Benussi L, Boland A, Borroni B, Caffarra P, Daian D, Daniele A, Debette S, Dufouil C, Düzel E, Galimberti D, Giedraitis V, Grimmer T, Graff C, Grünblatt E, Hanon O, Hausner L, Heilmann-Heimbach S, Holstege H, Hort J, Jürgen D, Kuulasmaa T, van der Lugt A, Masullo C, Mecocci P, Mehrabian S, de Mendonça 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, García-González P, Puerta R, … See abstract for full author list ➔ Le Guen Y, et al. Among authors: olaso r. JAMA Neurol. 2022 Jul 1;79(7):652-663. doi: 10.1001/jamaneurol.2022.1166. JAMA Neurol. 2022. PMID: 35639372 Free PMC article.
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: olaso r. 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: olaso r. 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: olaso r. 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: olaso r. Mol Psychiatry. 2017 Aug;22(8):1119-1125. doi: 10.1038/mp.2016.226. Epub 2016 Dec 13. Mol Psychiatry. 2017. PMID: 27956742
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.
Sims R, van der Lee SJ, Naj AC, Bellenguez C, Badarinarayan N, Jakobsdottir J, Kunkle BW, Boland A, Raybould R, Bis JC, Martin ER, Grenier-Boley B, Heilmann-Heimbach S, Chouraki V, Kuzma AB, Sleegers K, Vronskaya M, Ruiz A, Graham RR, Olaso R, Hoffmann P, Grove ML, Vardarajan BN, Hiltunen M, Nöthen MM, White CC, Hamilton-Nelson KL, Epelbaum J, Maier W, Choi SH, Beecham GW, Dulary C, Herms S, Smith AV, Funk CC, Derbois C, Forstner AJ, Ahmad S, Li H, Bacq D, Harold D, Satizabal CL, Valladares O, Squassina A, Thomas R, Brody JA, Qu L, Sánchez-Juan P, Morgan T, Wolters FJ, Zhao Y, Garcia FS, Denning N, Fornage M, Malamon J, Naranjo MCD, Majounie E, Mosley TH, Dombroski B, Wallon D, Lupton MK, Dupuis J, Whitehead P, Fratiglioni L, Medway C, Jian X, Mukherjee S, Keller L, Brown K, Lin H, Cantwell LB, Panza F, McGuinness B, Moreno-Grau S, Burgess JD, Solfrizzi V, Proitsi P, Adams HH, Allen M, Seripa D, Pastor P, Cupples LA, Price ND, Hannequin D, Frank-García A, Levy D, Chakrabarty P, Caffarra P, Giegling I, Beiser AS, Giedraitis V, Hampel H, Garcia ME, Wang X, Lannfelt L, Mecocci P, Eiriksdottir G, Crane PK, Pasquier F, Boccardi V, Henández I, Barber RC, Scherer M, Tarraga L, Ada… See abstract for full author list ➔ Sims R, et al. Among authors: olaso r. Nat Genet. 2017 Sep;49(9):1373-1384. doi: 10.1038/ng.3916. Epub 2017 Jul 17. Nat Genet. 2017. PMID: 28714976 Free PMC article.
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: olaso r. 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
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype.
Bruel AL, Bigoni S, Kennedy J, Whiteford M, Buxton C, Parmeggiani G, Wherlock M, Woodward G, Greenslade M, Williams M, St-Onge J, Ferlini A, Garani G, Ballardini E, van Bon BW, Acuna-Hidalgo R, Bohring A, Deleuze JF, Boland A, Meyer V, Olaso R, Ginglinger E, Study D, Rivière JB, Brunner HG, Hoischen A, Newbury-Ecob R, Faivre L, Thauvin-Robinet C, Thevenon J. Bruel AL, et al. Among authors: olaso r. J Med Genet. 2017 Dec;54(12):830-835. doi: 10.1136/jmedgenet-2017-104748. Epub 2017 Oct 26. J Med Genet. 2017. PMID: 29074562
Performance comparison of three DNA extraction kits on human whole-exome data from formalin-fixed paraffin-embedded normal and tumor samples.
Bonnet E, Moutet ML, Baulard C, Bacq-Daian D, Sandron F, Mesrob L, Fin B, Delépine M, Palomares MA, Jubin C, Blanché H, Meyer V, Boland A, Olaso R, Deleuze JF. Bonnet E, et al. Among authors: olaso r. PLoS One. 2018 Apr 5;13(4):e0195471. doi: 10.1371/journal.pone.0195471. eCollection 2018. PLoS One. 2018. PMID: 29621323 Free PMC article.
114 results