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Page 1
Genomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease.
Duperron MG, Knol MJ, Le Grand Q, Evans TE, Mishra A, Tsuchida A, Roshchupkin G, Konuma T, Trégouët DA, Romero JR, Frenzel S, Luciano M, Hofer E, Bourgey M, Dueker ND, Delgado P, Hilal S, Tankard RM, Dubost F, Shin J, Saba Y, Armstrong NJ, Bordes C, Bastin ME, Beiser A, Brodaty H, Bülow R, Carrera C, Chen C, Cheng CY, Deary IJ, Gampawar PG, Himali JJ, Jiang J, Kawaguchi T, Li S, Macalli M, Marquis P, Morris Z, Muñoz Maniega S, Miyamoto S, Okawa M, Paradise M, Parva P, Rundek T, Sargurupremraj M, Schilling S, Setoh K, Soukarieh O, Tabara Y, Teumer A, Thalamuthu A, Trollor JN, Valdés Hernández MC, Vernooij MW, Völker U, Wittfeld K, Wong TY, Wright MJ, Zhang J, Zhao W, Zhu YC, Schmidt H, Sachdev PS, Wen W, Yoshida K, Joutel A, Satizabal CL, Sacco RL, Bourque G; CHARGE consortium; Lathrop M, Paus T, Fernandez-Cadenas I, Yang Q, Mazoyer B, Boutinaud P, Okada Y, Grabe HJ, Mather KA, Schmidt R, Joliot M, Ikram MA, Matsuda F, Tzourio C, Wardlaw JM, Seshadri S, Adams HHH, Debette S. Duperron MG, et al. Among authors: saba y. Nat Med. 2023 Apr;29(4):950-962. doi: 10.1038/s41591-023-02268-w. Epub 2023 Apr 17. Nat Med. 2023. PMID: 37069360 Free PMC article.
Cerebral small vessel disease genomics and its implications across the lifespan.
Sargurupremraj M, Suzuki H, Jian X, Sarnowski C, Evans TE, Bis JC, Eiriksdottir G, Sakaue S, Terzikhan N, Habes M, Zhao W, Armstrong NJ, Hofer E, Yanek LR, Hagenaars SP, Kumar RB, van den Akker EB, McWhirter RE, Trompet S, Mishra A, Saba Y, Satizabal CL, Beaudet G, Petit L, Tsuchida A, Zago L, Schilling S, Sigurdsson S, Gottesman RF, Lewis CE, Aggarwal NT, Lopez OL, Smith JA, Valdés Hernández MC, van der Grond J, Wright MJ, Knol MJ, Dörr M, Thomson RJ, Bordes C, Le Grand Q, Duperron MG, Smith AV, Knopman DS, Schreiner PJ, Evans DA, Rotter JI, Beiser AS, Maniega SM, Beekman M, Trollor J, Stott DJ, Vernooij MW, Wittfeld K, Niessen WJ, Soumaré A, Boerwinkle E, Sidney S, Turner ST, Davies G, Thalamuthu A, Völker U, van Buchem MA, Bryan RN, Dupuis J, Bastin ME, Ames D, Teumer A, Amouyel P, Kwok JB, Bülow R, Deary IJ, Schofield PR, Brodaty H, Jiang J, Tabara Y, Setoh K, Miyamoto S, Yoshida K, Nagata M, Kamatani Y, Matsuda F, Psaty BM, Bennett DA, De Jager PL, Mosley TH, Sachdev PS, Schmidt R, Warren HR, Evangelou E, Trégouët DA; International Network against Thrombosis (INVENT) Consortium; International Headache Genomics Consortium (IHGC); Ikram MA, Wen W, DeCarli C, Srikanth VK,… See abstract for full author list ➔ Sargurupremraj M, et al. Among authors: saba y. Nat Commun. 2020 Dec 8;11(1):6285. doi: 10.1038/s41467-020-19111-2. Nat Commun. 2020. PMID: 33293549 Free PMC article.
Genome-wide association study of 23,500 individuals identifies 7 loci associated with brain ventricular volume.
Vojinovic D, Adams HH, Jian X, Yang Q, Smith AV, Bis JC, Teumer A, Scholz M, Armstrong NJ, Hofer E, Saba Y, Luciano M, Bernard M, Trompet S, Yang J, Gillespie NA, van der Lee SJ, Neumann A, Ahmad S, Andreassen OA, Ames D, Amin N, Arfanakis K, Bastin ME, Becker DM, Beiser AS, Beyer F, Brodaty H, Bryan RN, Bülow R, Dale AM, De Jager PL, Deary IJ, DeCarli C, Fleischman DA, Gottesman RF, van der Grond J, Gudnason V, Harris TB, Homuth G, Knopman DS, Kwok JB, Lewis CE, Li S, Loeffler M, Lopez OL, Maillard P, El Marroun H, Mather KA, Mosley TH, Muetzel RL, Nauck M, Nyquist PA, Panizzon MS, Pausova Z, Psaty BM, Rice K, Rotter JI, Royle N, Satizabal CL, Schmidt R, Schofield PR, Schreiner PJ, Sidney S, Stott DJ, Thalamuthu A, Uitterlinden AG, Valdés Hernández MC, Vernooij MW, Wen W, White T, Witte AV, Wittfeld K, Wright MJ, Yanek LR, Tiemeier H, Kremen WS, Bennett DA, Jukema JW, Paus T, Wardlaw JM, Schmidt H, Sachdev PS, Villringer A, Grabe HJ, Longstreth WT, van Duijn CM, Launer LJ, Seshadri S, Ikram MA, Fornage M. Vojinovic D, et al. Among authors: saba y. Nat Commun. 2018 Sep 26;9(1):3945. doi: 10.1038/s41467-018-06234-w. Nat Commun. 2018. PMID: 30258056 Free PMC article.
Association of variants in HTRA1 and NOTCH3 with MRI-defined extremes of cerebral small vessel disease in older subjects.
Mishra A, Chauhan G, Violleau MH, Vojinovic D, Jian X, Bis JC, Li S, Saba Y, Grenier-Boley B, Yang Q, Bartz TM, Hofer E, Soumaré A, Peng F, Duperron MG, Foglio M, Mosley TH, Schmidt R, Psaty BM, Launer LJ, Boerwinkle E, Zhu Y, Mazoyer B, Lathrop M, Bellenguez C, Van Duijn CM, Ikram MA, Schmidt H, Longstreth WT, Fornage M, Seshadri S, Joutel A, Tzourio C, Debette S. Mishra A, et al. Among authors: saba y. Brain. 2019 Apr 1;142(4):1009-1023. doi: 10.1093/brain/awz024. Brain. 2019. PMID: 30859180 Free PMC article.
Genetic architecture of subcortical brain structures in 38,851 individuals.
Satizabal CL, Adams HHH, Hibar DP, White CC, Knol MJ, Stein JL, Scholz M, Sargurupremraj M, Jahanshad N, Roshchupkin GV, Smith AV, Bis JC, Jian X, Luciano M, Hofer E, Teumer A, van der Lee SJ, Yang J, Yanek LR, Lee TV, Li S, Hu Y, Koh JY, Eicher JD, Desrivières S, Arias-Vasquez A, Chauhan G, Athanasiu L, Rentería ME, Kim S, Hoehn D, Armstrong NJ, Chen Q, Holmes AJ, den Braber A, Kloszewska I, Andersson M, Espeseth T, Grimm O, Abramovic L, Alhusaini S, Milaneschi Y, Papmeyer M, Axelsson T, Ehrlich S, Roiz-Santiañez R, Kraemer B, Håberg AK, Jones HJ, Pike GB, Stein DJ, Stevens A, Bralten J, Vernooij MW, Harris TB, Filippi I, Witte AV, Guadalupe T, Wittfeld K, Mosley TH, Becker JT, Doan NT, Hagenaars SP, Saba Y, Cuellar-Partida G, Amin N, Hilal S, Nho K, Mirza-Schreiber N, Arfanakis K, Becker DM, Ames D, Goldman AL, Lee PH, Boomsma DI, Lovestone S, Giddaluru S, Le Hellard S, Mattheisen M, Bohlken MM, Kasperaviciute D, Schmaal L, Lawrie SM, Agartz I, Walton E, Tordesillas-Gutierrez D, Davies GE, Shin J, Ipser JC, Vinke LN, Hoogman M, Jia T, Burkhardt R, Klein M, Crivello F, Janowitz D, Carmichael O, Haukvik UK, Aribisala BS, Schmidt H, Strike LT, Cheng CY, Risacher SL, Pütz B, … See abstract for full author list ➔ Satizabal CL, et al. Among authors: saba y. Nat Genet. 2019 Nov;51(11):1624-1636. doi: 10.1038/s41588-019-0511-y. Epub 2019 Oct 21. Nat Genet. 2019. PMID: 31636452 Free PMC article.
Genetic correlations and genome-wide associations of cortical structure in general population samples of 22,824 adults.
Hofer E, Roshchupkin GV, Adams HHH, Knol MJ, Lin H, Li S, Zare H, Ahmad S, Armstrong NJ, Satizabal CL, Bernard M, Bis JC, Gillespie NA, Luciano M, Mishra A, Scholz M, Teumer A, Xia R, Jian X, Mosley TH, Saba Y, Pirpamer L, Seiler S, Becker JT, Carmichael O, Rotter JI, Psaty BM, Lopez OL, Amin N, van der Lee SJ, Yang Q, Himali JJ, Maillard P, Beiser AS, DeCarli C, Karama S, Lewis L, Harris M, Bastin ME, Deary IJ, Veronica Witte A, Beyer F, Loeffler M, Mather KA, Schofield PR, Thalamuthu A, Kwok JB, Wright MJ, Ames D, Trollor J, Jiang J, Brodaty H, Wen W, Vernooij MW, Hofman A, Uitterlinden AG, Niessen WJ, Wittfeld K, Bülow R, Völker U, Pausova Z, Bruce Pike G, Maingault S, Crivello F, Tzourio C, Amouyel P, Mazoyer B, Neale MC, Franz CE, Lyons MJ, Panizzon MS, Andreassen OA, Dale AM, Logue M, Grasby KL, Jahanshad N, Painter JN, Colodro-Conde L, Bralten J, Hibar DP, Lind PA, Pizzagalli F, Stein JL, Thompson PM, Medland SE; ENIGMA consortium; Sachdev PS, Kremen WS, Wardlaw JM, Villringer A, van Duijn CM, Grabe HJ, Longstreth WT Jr, Fornage M, Paus T, Debette S, Ikram MA, Schmidt H, Schmidt R, Seshadri S. Hofer E, et al. Among authors: saba y. Nat Commun. 2020 Sep 22;11(1):4796. doi: 10.1038/s41467-020-18367-y. Nat Commun. 2020. PMID: 32963231 Free PMC article.
New insights into the genetic etiology of Alzheimer's disease and related dementias.
Bellenguez C, Küçükali 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, Alarcón-Martín E, Alcolea D, Alegret M, Alvarez I, Álvarez V, Armstrong NJ, Tsolaki A, Antúnez 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, Bossù P, Bråthen G, Bressler J, Bresner C, Brodaty H, Brookes KJ, Brusco LI, Buiza-Rueda D, Bûrger K, Burholt V, Bush WS, Calero M, Cantwell LB, Chene G, Chung J, Cuccaro ML, Carracedo Á, Cecchetti R, Cervera-Carles L, Charbonnier C, Chen HH, Chillotti C, Ciccone S, Claassen JAHR, Clark C, Conti E, Corma-Gómez 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,… See abstract for full author list ➔ Bellenguez C, et al. Nat Genet. 2022 Apr;54(4):412-436. doi: 10.1038/s41588-022-01024-z. Epub 2022 Apr 4. Nat Genet. 2022. PMID: 35379992 Free PMC article.
Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.
Davies G, Lam M, Harris SE, Trampush JW, Luciano M, Hill WD, Hagenaars SP, Ritchie SJ, Marioni RE, Fawns-Ritchie C, Liewald DCM, Okely JA, Ahola-Olli AV, Barnes CLK, Bertram L, Bis JC, Burdick KE, Christoforou A, DeRosse P, Djurovic S, Espeseth T, Giakoumaki S, Giddaluru S, Gustavson DE, Hayward C, Hofer E, Ikram MA, Karlsson R, Knowles E, Lahti J, Leber M, Li S, Mather KA, Melle I, Morris D, Oldmeadow C, Palviainen T, Payton A, Pazoki R, Petrovic K, Reynolds CA, Sargurupremraj M, Scholz M, Smith JA, Smith AV, Terzikhan N, Thalamuthu A, Trompet S, van der Lee SJ, Ware EB, Windham BG, Wright MJ, Yang J, Yu J, Ames D, Amin N, Amouyel P, Andreassen OA, Armstrong NJ, Assareh AA, Attia JR, Attix D, Avramopoulos D, Bennett DA, Böhmer AC, Boyle PA, Brodaty H, Campbell H, Cannon TD, Cirulli ET, Congdon E, Conley ED, Corley J, Cox SR, Dale AM, Dehghan A, Dick D, Dickinson D, Eriksson JG, Evangelou E, Faul JD, Ford I, Freimer NA, Gao H, Giegling I, Gillespie NA, Gordon SD, Gottesman RF, Griswold ME, Gudnason V, Harris TB, Hartmann AM, Hatzimanolis A, Heiss G, Holliday EG, Joshi PK, Kähönen M, Kardia SLR, Karlsson I, Kleineidam L, Knopman DS, Kochan NA, Konte B, Kwok JB, Le Hellard S, Lee T,… See abstract for full author list ➔ Davies G, et al. Among authors: saba y. Nat Commun. 2018 May 29;9(1):2098. doi: 10.1038/s41467-018-04362-x. Nat Commun. 2018. PMID: 29844566 Free PMC article.
Exome Chip Analysis Identifies Low-Frequency and Rare Variants in MRPL38 for White Matter Hyperintensities on Brain Magnetic Resonance Imaging.
Jian X, Satizabal CL, Smith AV, Wittfeld K, Bis JC, Smith JA, Hsu FC, Nho K, Hofer E, Hagenaars SP, Nyquist PA, Mishra A, Adams HHH, Li S, Teumer A, Zhao W, Freedman BI, Saba Y, Yanek LR, Chauhan G, van Buchem MA, Cushman M, Royle NA, Bryan RN, Niessen WJ, Windham BG, DeStefano AL, Habes M, Heckbert SR, Palmer ND, Lewis CE, Eiriksdottir G, Maillard P, Mathias RA, Homuth G, Valdés-Hernández MDC, Divers J, Beiser AS, Langner S, Rice KM, Bastin ME, Yang Q, Maldjian JA, Starr JM, Sidney S, Risacher SL, Uitterlinden AG, Gudnason VG, Nauck M, Rotter JI, Schreiner PJ, Boerwinkle E, van Duijn CM, Mazoyer B, von Sarnowski B, Gottesman RF, Levy D, Sigurdsson S, Vernooij MW, Turner ST, Schmidt R, Wardlaw JM, Psaty BM, Mosley TH, DeCarli CS, Saykin AJ, Bowden DW, Becker DM, Deary IJ, Schmidt H, Kardia SLR, Ikram MA, Debette S, Grabe HJ, Longstreth WT Jr, Seshadri S, Launer LJ, Fornage M; neuroCHARGE Working Group. Jian X, et al. Among authors: saba y. Stroke. 2018 Aug;49(8):1812-1819. doi: 10.1161/STROKEAHA.118.020689. Stroke. 2018. PMID: 30002152 Free PMC article.
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