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Page 1
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
Halford JL, Morrill VN, Choi SH, Jurgens SJ, Melloni G, Marston NA, Weng LC, Nauffal V, Hall AW, Gunn S, Austin-Tse CA, Pirruccello JP, Khurshid S, Rehm HL, Benjamin EJ, Boerwinkle E, Brody JA, Correa A, Fornwalt BK, Gupta N, Haggerty CM, Harris S, Heckbert SR, Hong CC, Kooperberg C, Lin HJ, Loos RJF, Mitchell BD, Morrison AC, Post W, Psaty BM, Redline S, Rice KM, Rich SS, Rotter JI, Schnatz PF, Soliman EZ, Sotoodehnia N, Wong EK; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Sabatine MS, Ruff CT, Lunetta KL, Ellinor PT, Lubitz SA. Halford JL, et al. Among authors: choi sh. Nat Commun. 2022 Aug 30;13(1):5106. doi: 10.1038/s41467-022-32009-5. Nat Commun. 2022. PMID: 36042188 Free PMC article.
Predicting stroke through genetic risk functions: the CHARGE Risk Score Project.
Ibrahim-Verbaas CA, Fornage M, Bis JC, Choi SH, Psaty BM, Meigs JB, Rao M, Nalls M, Fontes JD, O'Donnell CJ, Kathiresan S, Ehret GB, Fox CS, Malik R, Dichgans M, Schmidt H, Lahti J, Heckbert SR, Lumley T, Rice K, Rotter JI, Taylor KD, Folsom AR, Boerwinkle E, Rosamond WD, Shahar E, Gottesman RF, Koudstaal PJ, Amin N, Wieberdink RG, Dehghan A, Hofman A, Uitterlinden AG, Destefano AL, Debette S, Xue L, Beiser A, Wolf PA, Decarli C, Ikram MA, Seshadri S, Mosley TH Jr, Longstreth WT Jr, van Duijn CM, Launer LJ. Ibrahim-Verbaas CA, et al. Among authors: choi sh. Stroke. 2014 Feb;45(2):403-12. doi: 10.1161/STROKEAHA.113.003044. Epub 2014 Jan 16. Stroke. 2014. PMID: 24436238 Free PMC article.
Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease.
Escott-Price V, Bellenguez C, Wang LS, Choi SH, Harold D, Jones L, Holmans P, Gerrish A, Vedernikov A, Richards A, DeStefano AL, Lambert JC, Ibrahim-Verbaas CA, Naj AC, Sims R, Jun G, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thornton-Wells TA, Denning N, Smith AV, Chouraki V, Thomas C, Ikram MA, Zelenika D, Vardarajan BN, Kamatani Y, Lin CF, Schmidt H, Kunkle B, Dunstan ML, Vronskaya M; United Kingdom Brain Expression Consortium; Johnson AD, Ruiz A, Bihoreau MT, Reitz C, Pasquier F, Hollingworth P, Hanon O, Fitzpatrick AL, Buxbaum JD, Campion D, Crane PK, Baldwin C, Becker T, Gudnason V, Cruchaga C, Craig D, Amin N, Berr C, Lopez OL, De Jager PL, Deramecourt V, Johnston JA, Evans D, Lovestone S, Letenneur L, Hernández I, Rubinsztein DC, Eiriksdottir G, Sleegers K, Goate AM, Fiévet N, Huentelman MJ, Gill M, Brown K, Kamboh MI, Keller L, Barberger-Gateau P, McGuinness B, Larson EB, Myers AJ, Dufouil C, Todd S, Wallon D, Love S, Rogaeva E, Gallacher J, George-Hyslop PS, Clarimon J, Lleo A, Bayer A, Tsuang DW, Yu L, Tsolaki M, Bossù P, Spalletta G, Proitsi P, Collinge J, Sorbi S, Garcia FS, Fox NC, Hardy J, Naranjo MC, Bosco P, Clarke R, Brayne C, Galimberti D, Scarpini E,… See abstract for full author list ➔ Escott-Price V, et al. Among authors: choi sh. PLoS One. 2014 Jun 12;9(6):e94661. doi: 10.1371/journal.pone.0094661. eCollection 2014. PLoS One. 2014. PMID: 24922517 Free PMC article.
Associations of NINJ2 sequence variants with incident ischemic stroke in the Cohorts for Heart and Aging in Genomic Epidemiology (CHARGE) consortium.
Bis JC, DeStefano A, Liu X, Brody JA, Choi SH, Verhaaren BF, Debette S, Ikram MA, Shahar E, Butler KR Jr, Gottesman RF, Muzny D, Kovar CL, Psaty BM, Hofman A, Lumley T, Gupta M, Wolf PA, van Duijn C, Gibbs RA, Mosley TH, Longstreth WT Jr, Boerwinkle E, Seshadri S, Fornage M. Bis JC, et al. Among authors: choi sh. PLoS One. 2014 Jun 24;9(6):e99798. doi: 10.1371/journal.pone.0099798. eCollection 2014. PLoS One. 2014. PMID: 24959832 Free PMC article.
PLD3 variants in population studies.
van der Lee SJ, Holstege H, Wong TH, Jakobsdottir J, Bis JC, Chouraki V, van Rooij JG, Grove ML, Smith AV, Amin N, Choi SH, Beiser AS, Garcia ME, van IJcken WF, Pijnenburg YA, Louwersheimer E, Brouwer RW, van den Hout MC, Oole E, Eirkisdottir G, Levy D, Rotter JI, Emilsson V, O'Donnell CJ, Aspelund T, Uitterlinden AG, Launer LJ, Hofman A, Boerwinkle E, Psaty BM, DeStefano AL, Scheltens P, Seshadri S, van Swieten JC, Gudnason V, van der Flier WM, Ikram MA, van Duijn CM. van der Lee SJ, et al. Among authors: choi sh. Nature. 2015 Apr 2;520(7545):E2-3. doi: 10.1038/nature14038. Nature. 2015. PMID: 25832410 Free PMC article. No abstract available.
Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease.
Jakobsdottir J, van der Lee SJ, Bis JC, Chouraki V, Li-Kroeger D, Yamamoto S, Grove ML, Naj A, Vronskaya M, Salazar JL, DeStefano AL, Brody JA, Smith AV, Amin N, Sims R, Ibrahim-Verbaas CA, Choi SH, Satizabal CL, Lopez OL, Beiser A, Ikram MA, Garcia ME, Hayward C, Varga TV, Ripatti S, Franks PW, Hallmans G, Rolandsson O, Jansson JH, Porteous DJ, Salomaa V, Eiriksdottir G, Rice KM, Bellen HJ, Levy D, Uitterlinden AG, Emilsson V, Rotter JI, Aspelund T; Cohorts for Heart and Aging Research in Genomic Epidemiology consortium; Alzheimer’s Disease Genetic Consortium; Genetic and Environmental Risk in Alzheimer’s Disease consortium; O'Donnell CJ, Fitzpatrick AL, Launer LJ, Hofman A, Wang LS, Williams J, Schellenberg GD, Boerwinkle E, Psaty BM, Seshadri S, Shulman JM, Gudnason V, van Duijn CM. Jakobsdottir J, et al. Among authors: choi sh. PLoS Genet. 2016 Oct 20;12(10):e1006327. doi: 10.1371/journal.pgen.1006327. eCollection 2016 Oct. PLoS Genet. 2016. PMID: 27764101 Free PMC article.
Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.
Christophersen IE, Rienstra M, Roselli C, Yin X, Geelhoed B, Barnard J, Lin H, Arking DE, Smith AV, Albert CM, Chaffin M, Tucker NR, Li M, Klarin D, Bihlmeyer NA, Low SK, Weeke PE, Müller-Nurasyid M, Smith JG, Brody JA, Niemeijer MN, Dörr M, Trompet S, Huffman J, Gustafsson S, Schurmann C, Kleber ME, Lyytikäinen LP, Seppälä I, Malik R, Horimoto ARVR, Perez M, Sinisalo J, Aeschbacher S, Thériault S, Yao J, Radmanesh F, Weiss S, Teumer A, Choi SH, Weng LC, Clauss S, Deo R, Rader DJ, Shah SH, Sun A, Hopewell JC, Debette S, Chauhan G, Yang Q, Worrall BB, Paré G, Kamatani Y, Hagemeijer YP, Verweij N, Siland JE, Kubo M, Smith JD, Van Wagoner DR, Bis JC, Perz S, Psaty BM, Ridker PM, Magnani JW, Harris TB, Launer LJ, Shoemaker MB, Padmanabhan S, Haessler J, Bartz TM, Waldenberger M, Lichtner P, Arendt M, Krieger JE, Kähönen M, Risch L, Mansur AJ, Peters A, Smith BH, Lind L, Scott SA, Lu Y, Bottinger EB, Hernesniemi J, Lindgren CM, Wong JA, Huang J, Eskola M, Morris AP, Ford I, Reiner AP, Delgado G, Chen LY, Chen YI, Sandhu RK, Li M, Boerwinkle E, Eisele L, Lannfelt L, Rost N, Anderson CD, Taylor KD, Campbell A, Magnusson PK, Porteous D, Hocking LJ, Vlachopoulou E, Pedersen NL, Niku… See abstract for full author list ➔ Christophersen IE, et al. Among authors: choi sh. Nat Genet. 2017 Jun;49(6):946-952. doi: 10.1038/ng.3843. Epub 2017 Apr 17. Nat Genet. 2017. PMID: 28416818 Free PMC article.
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: choi sh. 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.
Erratum: Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.
Christophersen IE, Rienstra M, Roselli C, Yin X, Geelhoed B, Barnard J, Lin H, Arking DE, Smith AV, Albert CM, Chaffin M, Tucker NR, Li M, Klarin D, Bihlmeyer NA, Low SK, Weeke PE, Müller-Nurasyid M, Smith JG, Brody JA, Niemeijer MN, Dörr M, Trompet S, Huffman J, Gustafsson S, Schurmann C, Kleber ME, Lyytikäinen LP, Seppälä I, Malik R, R V R Horimoto A, Perez M, Sinisalo J, Aeschbacher S, Thériault S, Yao J, Radmanesh F, Weiss S, Teumer A, Choi SH, Weng LC, Clauss S, Deo R, Rader DJ, Shah SH, Sun A, Hopewell JC, Debette S, Chauhan G, Yang Q, Worrall BB, Paré G, Kamatani Y, Hagemeijer YP, Verweij N, Siland JE, Kubo M, Smith JD, Van Wagoner DR, Bis JC, Perz S, Psaty BM, Ridker PM, Magnani JW, Harris TB, Launer LJ, Shoemaker MB, Padmanabhan S, Haessler J, Bartz TM, Waldenberger M, Lichtner P, Arendt M, Krieger JE, Kähönen M, Risch L, Mansur AJ, Peters A, Smith BH, Lind L, Scott SA, Lu Y, Bottinger EB, Hernesniemi J, Lindgren CM, Wong JA, Huang J, Eskola M, Morris AP, Ford I, Reiner AP, Delgado G, Chen LY, Chen YI, Sandhu RK, Li M, Boerwinkle E, Eisele L, Lannfelt L, Rost N, Anderson CD, Taylor KD, Campbell A, Magnusson PK, Porteous D, Hocking LJ, Vlachopoulou E, Pedersen NL, N… See abstract for full author list ➔ Christophersen IE, et al. Among authors: choi sh. Nat Genet. 2017 Jul 27;49(8):1286. doi: 10.1038/ng0817-1286c. Nat Genet. 2017. PMID: 28747752 No abstract available.
6,375 results