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Page 1
Genome-wide association study of major anxiety disorders in 122,341 European-ancestry cases identifies 58 loci and highlights GABAergic signaling.
Strom NI, Verhulst B, Bacanu SA, Cheesman R, Purves KL, Gedik H, Mitchell BL, Kwong AS, Faucon AB, Singh K, Medland S, Colodro-Conde L, Krebs K, Hoffmann P, Herms S, Gehlen J, Ripke S, Awasthi S, Palviainen T, Tasanko EM, Peterson RE, Adkins DE, Shabalin AA, Adams MJ, Iveson MH, Campbell A, Thomas LF, Winsvold BS, Drange OK, Børte S, Ter Kuile AR, Naamanka J, Nguyen TH, Meier SM, Corfield EC, Hannigan L, Levey DF, Czamara D, Weber H, Choi KW, Pistis G, Couvy-Duchesne B, Van der Auwera S, Teumer A, Karlsson R, Garcia-Argibay M, Lee D, Wang R, Bjerkeset O, Stordal E, Bäckman J, Salum GA, Zai CC, Kennedy JL, Zai G, Tiwari AK, Heilmann-Heimbach S, Schmidt B, Kaprio J, Kennedy MM, Boden J, Havdahl A, Middeldorp CM, Lopes FL, Akula N, McMahon FJ, Binder EB, Fehm L, Ströhle A, Castelao E, Tiemeier H, Stein DJ, Whiteman D, Olsen C, Fuller Z, Wang X, Wray NR, Byrne EM, Lewis G, Timpson NJ, Davis LK, Hickie IB, Gillespie NA, Milani L, Schumacher J, Woldbye DP, Forstner AJ, Nöthen MM, Hovatta I, Horwood J, Copeland WE, Maes HH, McIntosh AM, Andreassen OA, Zwart JA, Mors O, Børglum AD, Mortensen PB, Ask H, Reichborn-Kjennerud T, Najman JM, Stein MB, Gelernter J, Milaneschi Y, Penninx BW, Boom… See abstract for full author list ➔ Strom NI, et al. Nat Genet. 2026 Feb;58(2):275-288. doi: 10.1038/s41588-025-02485-8. Epub 2026 Feb 3. Nat Genet. 2026. PMID: 41634414 Free PMC article.
The role of MICOS in modulating mitochondrial dynamics and structural changes in vulnerable regions of Alzheimer's Disease.
Shao B, Kula B, Le H, Venkhatesh P, Katti P, Marshall AG, Chittaranjan S, Thapilyal S, Namdar HK, Nivedya C, Roszczyk A, Mobley H, Killion M, St John E, Martin P, Rodrigiuez B, Hamilton M, Bell L, Wyckoff SM, Moran LA, Philips M, Hubert D, Tomeau B, Afolabi JM, Kirabo A, Blanco I, Reasonover S, Drake LE, Lippmann ES, Evans C, Santisteban MM, Cheairs TG, Mesenga S, Wanjalla C, Gaddy J, McMillan R, Hernandez Perez CP, Paing HH, Schafer JC, Mobley B, Berry J, Crabtree A, Kovtun O, Goodwin S, Garza Lopez E, Dash C, Dai DF, Miller-Fleming TW, Hinton A Jr, Smith NA. Shao B, et al. bioRxiv [Preprint]. 2025 Dec 16:2025.12.13.693635. doi: 10.64898/2025.12.13.693635. bioRxiv. 2025. PMID: 41446123 Free PMC article. Preprint.
Genome sequencing of 35,024 predominantly African ancestry persons addresses gaps in genomics and healthcare.
Avery C, Babanejad M, Baker J, Bledsoe X, Blostein F, Corty RW, Ellis K, Hung AM, Lake A, Shelley J, Sheng Q; Vanderbilt University Medical Center and Alliance for Genomic Discovery Investigators; Aldrich M, Basford M, Bastarache L, Below J, Bick AG, Embi P, Feng Q, Gamazon E, Han L, Hirbo J, Marginean K, Mosley J, Pulley J, Roden DM, Ruderfer DM, Shuey M, Shyr Y, Stein CM, Walsh C, Wilkins C. Avery C, et al. medRxiv [Preprint]. 2025 Nov 2:2025.10.30.25338549. doi: 10.1101/2025.10.30.25338549. medRxiv. 2025. PMID: 41282679 Free PMC article. Preprint.
Genomic loci and molecular genetic mechanisms for hidradenitis suppurativa.
Broadaway KA, Sun Q, Edmiston SN, Currin KW, Vadlamudi S, Miller-Fleming TW, Shi Y, Fajgenbaum K, Melendez-Gonzalez M, Bui H, Blum FR, Westerkam L, Shams R, Mallela T, Levitt B, Lin L, Hao H, Memili A, Straub P, Zhou W, Harris KM, Martin A, Cox NJ, Liu Z, Thomas NE, Li Y, Mohlke KL, Sayed CJ. Broadaway KA, et al. Br J Dermatol. 2025 Oct 17;193(5):948-958. doi: 10.1093/bjd/ljaf277. Br J Dermatol. 2025. PMID: 40650879 Free PMC article.
Polygenic prediction of body mass index and obesity through the life course and across ancestries.
Smit RAJ, Wade KH, Hui Q, Arias JD, Yin X, Christiansen MR, Yengo L, Preuss MH, Nakabuye M, Rocheleau G, Graham SE, Buchanan VL, Chittoor G, Graff M, Guindo-Martínez M, Lu Y, Marouli E, Sakaue S, Spracklen CN, Vedantam S, Wilson EP, Chen SH, Ferreira T, Ji Y, Karaderi T, Lüll K, Machado M, Malden DE, Medina-Gomez C, Moore A, Rüeger S, Akiyama M, Allison MA, Alvarez M, Andersen MK, Appadurai V, Arbeeva L, Bartell E, Bhaskar S, Bielak LF, Bis JC, Bollepalli S, Bork-Jensen J, Bradfield JP, Bradford Y, Brandl C, Braund PS, Brody JA, Broeckel U, Burgdorf KS, Cade BE, Cai Q, Camarda S, Campbell A, Cañadas-Garre M, Chai JF, Chesi A, Choi SH, Christofidou P, Couture C, Cuellar-Partida G, Danning R, Degenhardt F, Delgado GE, Delitala A, Demirkan A, Deng X, Dietl A, Dimitriou M, Dimitrov L, Dorajoo R, Eichelmann F, Eliasen AU, Engmann JE, Erdos MR, Fairhurst-Hunter Z, Farmaki AE, Faul JD, Fernandez-Lopez JC, Forer L, Frank M, Freitag-Wolf S, Fritsche LG, Fuchsberger C, Galesloot TE, Gao Y, Geller F, Giannakopoulou O, Giulianini F, Gjesing AP, Goel A, Gordon SD, Gorski M, Grove J, Guo X, Gustafsson S, Haessler J, Hansen TF, Havulinna AS, Haworth SJ, Heard-Costa N, Hemerich D, Highland HM, Hi… See abstract for full author list ➔ Smit RAJ, et al. Nat Med. 2025 Sep;31(9):3151-3168. doi: 10.1038/s41591-025-03827-z. Epub 2025 Jul 21. Nat Med. 2025. PMID: 40691366 Free PMC article.
Persistent Tic Disorders Are Associated With 17q12 Duplications.
Halvorsen M, Wang S, Miller-Fleming T, Yu D, Topaloudi A, de Schipper E, Bäckman J, Mataix-Cols D, Rück C, Mahjani B, Buxbaum J, Grice D, Cavallari L, Angiolillo D, Franchi F, Davis L, Han L, Ruderfer D, Dietrich A, Hoekstra P, Mattheisen M, Porras L, Giusti-Rodríguez P, Mathews C, Paschou P, Scharf J, Willsey J, Crowley J. Halvorsen M, et al. Res Sq [Preprint]. 2025 Aug 19:rs.3.rs-7031850. doi: 10.21203/rs.3.rs-7031850/v1. Res Sq. 2025. PMID: 40894066 Free PMC article. Preprint.
Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder.
Strom NI, Gerring ZF, Galimberti M, Yu D, Halvorsen MW, Abdellaoui A, Rodriguez-Fontenla C, Sealock JM, Bigdeli T, Coleman JR, Mahjani B, Thorp JG, Bey K, Burton CL, Luykx JJ, Zai G, Alemany S, Andre C, Askland KD, Bäckman J, Banaj N, Barlassina C, Nissen JB, Bienvenu OJ, Black D, Bloch MH, Børte S, Bosch R, Breen M, Brennan BP, Brentani H, Buxbaum JD, Bybjerg-Grauholm J, Byrne EM, Cabana-Dominguez J, Camarena B, Camarena A, Cappi C, Carracedo A, Casas M, Cavallini MC, Ciullo V, Cook EH, Crosby J, Cullen BA, De Schipper EJ, Delorme R, Djurovic S, Elias JA, Estivill X, Falkenstein MJ, Fundin BT, Garner L, Gironda C, Goes FS, Grados MA, Grove J, Guo W, Haavik J, Hagen K, Harrington K, Havdahl A, Höffler KD, Hounie AG, Hucks D, Hultman C, Janecka M, Jenike E, Karlsson EK, Kelley K, Klawohn J, Krasnow JE, Krebs K, Lange C, Lanzagorta N, Levey D, Lindblad-Toh K, Macciardi F, Maher B, Mathes B, McArthur E, McGregor N, McLaughlin NC, Meier S, Miguel EC, Mulhern M, Nestadt PS, Nurmi EL, O'Connell KS, Osiecki L, Ousdal OT, Palviainen T, Pedersen NL, Piras F, Piras F, Potluri S, Rabionet R, Ramirez A, Rauch S, Reichenberg A, Riddle MA, Ripke S, Rosário MC, Sampaio AS, Schiele MA, Skogholt A… See abstract for full author list ➔ Strom NI, et al. Nat Genet. 2025 Jun;57(6):1389-1401. doi: 10.1038/s41588-025-02189-z. Epub 2025 May 13. Nat Genet. 2025. PMID: 40360802 Free PMC article.
Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder.
Strom NI, Gerring ZF, Galimberti M, Yu D, Halvorsen MW, Abdellaoui A, Rodriguez-Fontenla C, Sealock JM, Bigdeli T, Coleman JR, Mahjani B, Thorp JG, Bey K, Burton CL, Luykx JJ, Zai G, Alemany S, Andre C, Askland KD, Bäckmann J, Banaj N, Barlassina C, Nissen JB, Bienvenu OJ, Black D, Bloch MH, Børte S, Bosch R, Breen M, Brennan BP, Brentani H, Buxbaum JD, Bybjerg-Grauholm J, Byrne EM, Cabana-Dominguez J, Camarena B, Camarena A, Cappi C, Carracedo A, Casas M, Cavallini MC, Ciullo V, Cook EH, Crosby J, Cullen BA, De Schipper EJ, Delorme R, Djurovic S, Elias JA, Estivill X, Falkenstein MJ, Fundin BT, Garner L, Gironda C, Goes FS, Grados MA, Grove J, Guo W, Haavik J, Hagen K, Harrington K, Havdahl A, Höffler KD, Hounie AG, Hucks D, Hultman C, Janecka M, Jenike E, Karlsson EK, Kelley K, Klawohn J, Krasnow JE, Krebs K, Lange C, Lanzagorta N, Levey D, Lindblad-Toh K, Macciardi F, Maher B, Mathes B, McArthur E, McGregor N, McLaughlin NC, Meier S, Miguel EC, Mulhern M, Nestadt PS, Nurmi EL, O'Connell KS, Osiecki L, Ousdal OT, Palviainen T, Pedersen NL, Piras F, Piras F, Potluri S, Rabionet R, Ramirez A, Rauch S, Reichenberg A, Riddle MA, Ripke S, Rosário MC, Sampaio AS, Schiele MA, Skogholt … See abstract for full author list ➔ Strom NI, et al. medRxiv [Preprint]. 2025 Apr 8:2024.03.13.24304161. doi: 10.1101/2024.03.13.24304161. medRxiv. 2025. Update in: Nat Genet. 2025 Jun;57(6):1389-1401. doi: 10.1038/s41588-025-02189-z. PMID: 38712091 Free PMC article. Updated. Preprint.
Polygenic Associations between Motor Behaviour, Neuromotor Traits, and Active Music Engagement in Four Cohorts.
Henechowicz TL, Coleman PL, Gustavson DE, Mekki YN, Nayak S, Nitin R, Scartozzi AC, Tio ES, van Klei R, Felsky D, Thaut MH, Gordon RL. Henechowicz TL, et al. bioRxiv [Preprint]. 2025 Mar 30:2025.03.27.645667. doi: 10.1101/2025.03.27.645667. bioRxiv. 2025. Update in: Ann N Y Acad Sci. 2026 Feb;1556(1):e70191. doi: 10.1111/nyas.70191. PMID: 40196524 Free PMC article. Updated. Preprint.
Genome-wide meta-analysis identifies novel risk loci for uterine fibroids within and across multiple ancestry groups.
Kim J, Williams A, Noh H, Jasper EA, Jones SH, Jaworski JA, Shuey MM, Ruiz-Narváez EA, Wise LA, Palmer JR, Connolly J, Keaton JM, Denny JC, Khan A, Abbass MA, Rasmussen-Torvik LJ, Kottyan LC, Madhivanan P, Krupp K, Wei WQ, Edwards TL, Velez Edwards DR, Hellwege JN. Kim J, et al. Nat Commun. 2025 Mar 6;16(1):2273. doi: 10.1038/s41467-025-57483-5. Nat Commun. 2025. PMID: 40050615 Free PMC article.
Insights from the largest diverse ancestry sex-specific disease map for genetically predicted height.
Papadopoulou A, Litkowski EM, Graff M, Wang Z, Smit RAJ, Chittoor G, Dinsmore I, Josyula NS, Lin M, Shortt J, Zhu W, Vedantam SL, Yengo L, Wood AR, Berndt SI, Holm IA, Mentch FD, Hakonarson H, Kiryluk K, Weng C, Jarvik GP, Crosslin D, Carrell D, Kullo IJ, Dikilitas O, Hayes MG, Wei W-, Edwards DRV, Assimes TL, Hirschhorn JN, Below JE, Gignoux CR, Justice AE, Loos RJF, Sun YV, Raghavan S, Deloukas P, North KE, Marouli E. Papadopoulou A, et al. NPJ Genom Med. 2025 Feb 27;10(1):14. doi: 10.1038/s41525-025-00464-w. NPJ Genom Med. 2025. PMID: 40016231 Free PMC article.
Genome-wide meta-analysis of myasthenia gravis uncovers new loci and provides insights into polygenic prediction.
Braun A, Shekhar S, Levey DF, Straub P, Kraft J, Panagiotaropoulou GM, Heilbron K, Awasthi S, Meleka Hanna R, Hoffmann S, Stein M, Lehnerer S, Mergenthaler P, Elnahas AG, Topaloudi A, Koromina M, Palviainen T, Asbjornsdottir B, Stefansson H, Skuladóttir AT, Jónsdóttir I, Stefansson K, Reis K, Esko T, Palotie A, Leypoldt F, Stein MB, Fontanillas P; Estonian Biobank Research Team; 23andMe Research Team; Kaprio J, Gelernter J, Davis LK, Paschou P, Tannemaat MR, Verschuuren JJGM, Kuhlenbäumer G, Gregersen PK, Huijbers MG, Stascheit F, Meisel A, Ripke S. Braun A, et al. Nat Commun. 2024 Nov 13;15(1):9839. doi: 10.1038/s41467-024-53595-6. Nat Commun. 2024. PMID: 39537604 Free PMC article.
HIV persists in late coronary atheroma and is associated with increased local inflammation and disease progression.
Obare LM, Bailin SS, Zhang X, Nthenge K, Priest S, Liu Q, Stolze LK, Sheng Q, Gangula R, Behrens M, Jenkins B, Prasad P, Neikirk K, Prakash P, Hogan M, Zhang L, Beasley HK, Shao J, Miller-Fleming TW, Actkins KV, Phillips MA, Hubert D, Malone J, Labeeb C, Gelbard A, Chaillon A, Mashayekhi M, Gabriel CL, Temu T, Olson L, Jones A, Beeri K, Baker P, Kawai K, Ghosh SKB, Guo L, Virmani R, Finn A, Shah P, Yang TS, Bick AG, Kirabo A, Su YR, Phillips EJ, Mallal S, Dash C, Koethe JR, Gianella S, McReynolds MR, Absi T, Hinton A, Wanjalla CN. Obare LM, et al. Res Sq [Preprint]. 2024 Oct 18:rs.3.rs-5125826. doi: 10.21203/rs.3.rs-5125826/v1. Res Sq. 2024. PMID: 39483879 Free PMC article. Preprint.
SOX6 expression and aneurysms of the thoracic and abdominal aorta.
Carmona-Berrio D, Adarve-Rengifo I, Marshall AG, Vue Z, Hall DD, Miller-Fleming TW, Actkins KV, Beasley HK, Almonacid PM, Barturen-Larrea P, Wells QS, Lopez MG, Garza-Lopez E, Dai DF, Shao J, Neikirk K, Billings FT 4th, Curci JA, Cox NJ, Gama V, Hinton A Jr, Gomez JA. Carmona-Berrio D, et al. iScience. 2024 Jul 24;27(9):110436. doi: 10.1016/j.isci.2024.110436. eCollection 2024 Sep 20. iScience. 2024. PMID: 39262802 Free PMC article.
Genome-wide association study of hospitalized patients and acute kidney injury.
Siew ED, Hellwege JN, Hung AM, Birkelo BC, Vincz AJ, Parr SK, Denton J, Greevy RA, Robinson-Cohen C, Liu H, Susztak K, Matheny ME, Velez Edwards DR. Siew ED, et al. Kidney Int. 2024 Aug;106(2):291-301. doi: 10.1016/j.kint.2024.04.019. Epub 2024 May 24. Kidney Int. 2024. PMID: 38797326 Free PMC article.
Genetic predictors of blood pressure traits are associated with preeclampsia.
Jasper EA, Hellwege JN, Breeyear JH, Xiao B, Jarvik GP, Stanaway IB, Leppig KA, Chittoor G, Hayes MG, Dikilitas O, Kullo IJ, Holm IA, Verma SS, Edwards TL, Velez Edwards DR. Jasper EA, et al. Sci Rep. 2024 Jul 30;14(1):17613. doi: 10.1038/s41598-024-68469-6. Sci Rep. 2024. PMID: 39080328 Free PMC article.
Genome-wide association study of major anxiety disorders in 122,341 European-ancestry cases identifies 58 loci and highlights GABAergic signaling.
Strom NI, Verhulst B, Bacanu SA, Cheesman R, Purves KL, Gedik H, Mitchell BL, Kwong AS, Faucon AB, Singh K, Medland S, Colodro-Conde L, Krebs K, Hoffmann P, Herms S, Gehlen J, Ripke S, Awasthi S, Palviainen T, Tasanko EM, Peterson RE, Adkins DE, Shabalin AA, Adams MJ, Iveson MH, Campbell A, Thomas LF, Winsvold BS, Drange OK, Børte S, Ter Kuile AR, Nguyen TH, Meier SM, Corfield EC, Hannigan L, Levey DF, Czamara D, Weber H, Choi KW, Pistis G, Couvy-Duchesne B, Van der Auwera S, Teumer A, Karlsson R, Garcia-Argibay M, Lee D, Wang R, Bjerkeset O, Stordal E, Bäckmann J, Salum GA, Zai CC, Kennedy JL, Zai G, Tiwari AK, Heilmann-Heimbach S, Schmidt B, Kaprio J, Kennedy MM, Boden J, Havdahl A, Middeldorp CM, Lopes FL, Akula N, McMahon FJ, Binder EB, Fehm L, Ströhle A, Castelao E, Tiemeier H, Stein DJ, Whiteman D, Olsen C, Fuller Z, Wang X, Wray NR, Byrne EM, Lewis G, Timpson NJ, Davis LK, Hickie IB, Gillespie NA, Milani L, Schumacher J, Woldbye DP, Forstner AJ, Nöthen MM, Hovatta I, Horwood J, Copeland WE, Maes HH, McIntosh AM, Andreassen OA, Zwart JA, Mors O, Børglum AD, Mortensen PB, Ask H, Reichborn-Kjennerud T, Najman JM, Stein MB, Gelernter J, Milaneschi Y, Penninx BW, Boomsma DI, Mar… See abstract for full author list ➔ Strom NI, et al. medRxiv [Preprint]. 2024 Jul 5:2024.07.03.24309466. doi: 10.1101/2024.07.03.24309466. medRxiv. 2024. Update in: Nat Genet. 2026 Feb;58(2):275-288. doi: 10.1038/s41588-025-02485-8. PMID: 39006447 Free PMC article. Updated. Preprint.
MICOS Complex Loss Governs Age-Associated Murine Mitochondrial Architecture and Metabolism in the Liver, While Sam50 Dictates Diet Changes.
Vue Z, Murphy A, Le H, Neikirk K, Garza-Lopez E, Marshall AG, Mungai M, Jenkins B, Vang L, Beasley HK, Ezedimma M, Manus S, Whiteside A, Forni MF, Harris C, Crabtree A, Albritton CF, Jamison S, Demirci M, Prasad P, Oliver A, Actkins KV, Shao J, Zaganjor E, Scudese E, Rodriguez B, Koh A, Rabago I, Moore JE, Nguyen D, Aftab M, Kirk B, Li Y, Wandira N, Ahmad T, Saleem M, Kadam A, Katti P, Koh HJ, Evans C, Koo YD, Wang E, Smith Q, Tomar D, Williams CR, Sweetwyne MT, Quintana AM, Phillips MA, Hubert D, Kirabo A, Dash C, Jadiya P, Kinder A, Ajijola OA, Miller-Fleming TW, McReynolds MR, Hinton A Jr. Vue Z, et al. bioRxiv [Preprint]. 2024 Jul 3:2024.06.20.599846. doi: 10.1101/2024.06.20.599846. bioRxiv. 2024. PMID: 38979162 Free PMC article. Preprint.
Genome-Wide Association Study of Treatment-Resistant Depression: Shared Biology With Metabolic Traits.
Kang J, Castro VM, Ripperger M, Venkatesh S, Burstein D, Linnér RK, Rocha DB, Hu Y, Wilimitis D, Morley T, Han L, Kim RY, Feng YA, Ge T, Heckers S, Voloudakis G, Chabris C, Roussos P, McCoy TH, Walsh CG, Perlis RH, Ruderfer DM. Kang J, et al. Am J Psychiatry. 2024 Jul 1;181(7):608-619. doi: 10.1176/appi.ajp.20230247. Epub 2024 May 15. Am J Psychiatry. 2024. PMID: 38745458 Free PMC article.
Germline prediction of immune checkpoint inhibitor discontinuation for immune-related adverse events.
Middha P, Thummalapalli R, Quandt Z, Balaratnam K, Cardenas E, Falcon CJ; Princess Margaret Lung Group; Gubens MA, Huntsman S, Khan K, Li M, Lovly CM, Patel D, Zhan LJ, Liu G, Aldrich MC, Schoenfeld AJ, Ziv E. Middha P, et al. medRxiv [Preprint]. 2024 Jun 11:2024.06.10.24308518. doi: 10.1101/2024.06.10.24308518. medRxiv. 2024. Update in: J Immunother Cancer. 2025 Mar 28;13(3):e011273. doi: 10.1136/jitc-2024-011273. PMID: 38947092 Free PMC article. Updated. Preprint.
Multi-ancestry meta-analysis of tobacco use disorder identifies 461 potential risk genes and reveals associations with multiple health outcomes.
Toikumo S, Jennings MV, Pham BK, Lee H, Mallard TT, Bianchi SB, Meredith JJ, Vilar-Ribó L, Xu H, Hatoum AS, Johnson EC, Pazdernik VK, Jinwala Z, Pakala SR, Leger BS, Niarchou M, Ehinmowo M; Penn Medicine BioBank; Jenkins GD, Batzler A, Pendegraft R, Palmer AA, Zhou H, Biernacka JM, Coombes BJ, Gelernter J, Xu K, Hancock DB, Cox NJ, Smoller JW, Davis LK, Justice AC, Kranzler HR, Kember RL, Sanchez-Roige S. Toikumo S, et al. Nat Hum Behav. 2024 Jun;8(6):1177-1193. doi: 10.1038/s41562-024-01851-6. Epub 2024 Apr 17. Nat Hum Behav. 2024. PMID: 38632388 Free PMC article.
Genetic Interleukin-6 Receptor Variant Is Not Associated With Rejection and Mortality After Heart Transplantation.
Amancherla K, Schlendorf KH, Vlasschaert C, Lowery BD, Wells QS, See SB, Zorn E, Colombo PC, Reilly MP, Lindenfeld J, Uriel N, Shah RV, Freedman JE, Moslehi J, Bick AG, Clerkin K. Amancherla K, et al. J Card Fail. 2024 Jun;30(6):848-852. doi: 10.1016/j.cardfail.2024.01.009. Epub 2024 Feb 16. J Card Fail. 2024. PMID: 38367904 Free PMC article. No abstract available.
Interoperability of phenome-wide multimorbidity patterns: a comparative study of two large-scale EHR systems.
Strayer N, Vessels T, Choi K, Zhang S, Li Y, Han L, Sharber B, Hsi RS, Bejan CA, Bick AG, Balko JM, Johnson DB, Wheless LE, Wells QS, Philips EJ, Pulley JM, Self WH, Chen Q, Hartert T, Wilkins CH, Savona MR, Shyr Y, Roden DM, Smoller JW, Ruderfer DM, Xu Y. Strayer N, et al. medRxiv [Preprint]. 2024 May 27:2024.03.28.24305045. doi: 10.1101/2024.03.28.24305045. medRxiv. 2024. PMID: 38585743 Free PMC article. Preprint.
Clinical associations with a polygenic predisposition to benign lower white blood cell counts.
Mosley JD, Shelley JP, Dickson AL, Zanussi J, Daniel LL, Zheng NS, Bastarache L, Wei WQ, Shi M, Jarvik GP, Rosenthal EA, Khan A, Sherafati A, Kullo IJ, Walunas TL, Glessner J, Hakonarson H, Cox NJ, Roden DM, Frangakis SG, Vanderwerff B, Stein CM, Van Driest SL, Borinstein SC, Shu XO, Zawistowski M, Chung CP, Kawai VK. Mosley JD, et al. Nat Commun. 2024 Apr 22;15(1):3384. doi: 10.1038/s41467-024-47804-5. Nat Commun. 2024. PMID: 38649760 Free PMC article.
Overcome the Limitation of Phenome-Wide Association Studies (PheWAS): Extension of PheWAS to Efficient and Robust Large-Scale ICD Codes Analysis.
Lin YC, Zhang S, Vessels T, Bastarache L, Bejan CA, Hsie RS, Philips EJ, Ruderfer DM, Pulley JM, Edwards TL, Wells QS, Warner JL, Denny JC, Roden DM, Kang H, Xu Y. Lin YC, et al. medRxiv [Preprint]. 2024 Apr 19:2024.04.15.24305098. doi: 10.1101/2024.04.15.24305098. medRxiv. 2024. PMID: 38699370 Free PMC article. Preprint.
Polygenic risk score for ulcerative colitis predicts immune checkpoint inhibitor-mediated colitis.
Middha P, Thummalapalli R, Betti MJ, Yao L, Quandt Z, Balaratnam K, Bejan CA, Cardenas E, Falcon CJ, Faleck DM; Princess Margaret Lung Group; Gubens MA, Huntsman S, Johnson DB, Kachuri L, Khan K, Li M, Lovly CM, Murray MH, Patel D, Werking K, Xu Y, Zhan LJ, Balko JM, Liu G, Aldrich MC, Schoenfeld AJ, Ziv E. Middha P, et al. Nat Commun. 2024 Mar 26;15(1):2568. doi: 10.1038/s41467-023-44512-4. Nat Commun. 2024. PMID: 38531883 Free PMC article.
Notes from Beethoven's genome.
Wesseldijk LW, Henechowicz TL, Baker DJ, Bignardi G, Karlsson R, Gordon RL, Mosing MA, Ullén F, Fisher SE. Wesseldijk LW, et al. Curr Biol. 2024 Mar 25;34(6):R233-R234. doi: 10.1016/j.cub.2024.01.025. Curr Biol. 2024. PMID: 38531312 Free PMC article.
Multi-ancestry genome-wide association study of major depression aids locus discovery, fine mapping, gene prioritization and causal inference.
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Detection of distant relatedness in biobanks for identification of undiagnosed carriers of a Mendelian disease variant: application to Long QT Syndrome.
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Polygenic risk score for ulcerative colitis predicts immune checkpoint inhibitor-mediated colitis.
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Genome-Wide Association Studies of Coffee Intake in UK/US Participants of European Ancestry Uncover Gene-Cohort Influences.
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Genome-Wide Association Study of CKD Progression.
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Comorbidity Profiles of Posttraumatic Stress Disorder Across the Medical Phenome.
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Clinical consequences of a polygenic predisposition to benign lower white blood cell counts: Consequences of benign WBC count genetics.
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PheMIME: An Interactive Web App and Knowledge Base for Phenome-Wide, Multi-Institutional Multimorbidity Analysis.
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Identifying modifiable comorbidities of schizophrenia by integrating electronic health records and polygenic risk.
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Dyslipidemia, inflammation, calcification, and adiposity in aortic stenosis: a genome-wide study.
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A Polygenic Risk Score for Prostate Cancer Risk Prediction.
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Multiancestry Genome-Wide Association Study of Aortic Stenosis Identifies Multiple Novel Loci in the Million Veteran Program.
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Polygenic risk score for ACE-inhibitor-associated cough based on the discovery of new genetic loci.
Ghouse J, Tragante V, Muhammad A, Ahlberg G, Skov MW, Roden DM, Jonsdottir I, Andreasen L, Lundegaard PR, Trudsø LC, Banasik K, Brunak S, Ostrowski SR; eMERGE consortium; Torp-Pedersen C, Pedersen OV, Sørensen E, Køber L, Iversen K, Thorsteinsdottir U, Thorgeirsson G, Ullum H, Gudbjartsson DF, Mosley JD, Holm H, Stefansson K, Bundgaard H, Olesen MS. Ghouse J, et al. Eur Heart J. 2022 Dec 1;43(45):4707-4718. doi: 10.1093/eurheartj/ehac322. Eur Heart J. 2022. PMID: 35751511 Free PMC article.
Discerning asthma endotypes through comorbidity mapping.
Jia G, Zhong X, Im HK, Schoettler N, Pividori M, Hogarth DK, Sperling AI, White SR, Naureckas ET, Lyttle CS, Terao C, Kamatani Y, Akiyama M, Matsuda K, Kubo M, Cox NJ, Ober C, Rzhetsky A, Solway J. Jia G, et al. Nat Commun. 2022 Nov 7;13(1):6712. doi: 10.1038/s41467-022-33628-8. Nat Commun. 2022. PMID: 36344522 Free PMC article.
Leveraging global multi-ancestry meta-analysis in the study of idiopathic pulmonary fibrosis genetics.
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A saturated map of common genetic variants associated with human height.
Yengo L, Vedantam S, Marouli E, Sidorenko J, Bartell E, Sakaue S, Graff M, Eliasen AU, Jiang Y, Raghavan S, Miao J, Arias JD, Graham SE, Mukamel RE, Spracklen CN, Yin X, Chen SH, Ferreira T, Highland HH, Ji Y, Karaderi T, Lin K, Lüll K, Malden DE, Medina-Gomez C, Machado M, Moore A, Rüeger S, Sim X, Vrieze S, Ahluwalia TS, Akiyama M, Allison MA, Alvarez M, Andersen MK, Ani A, Appadurai V, Arbeeva L, Bhaskar S, Bielak LF, Bollepalli S, Bonnycastle LL, Bork-Jensen J, Bradfield JP, Bradford Y, Braund PS, Brody JA, Burgdorf KS, Cade BE, Cai H, Cai Q, Campbell A, Cañadas-Garre M, Catamo E, Chai JF, Chai X, Chang LC, Chang YC, Chen CH, Chesi A, Choi SH, Chung RH, Cocca M, Concas MP, Couture C, Cuellar-Partida G, Danning R, Daw EW, Degenhard F, Delgado GE, Delitala A, Demirkan A, Deng X, Devineni P, Dietl A, Dimitriou M, Dimitrov L, Dorajoo R, Ekici AB, Engmann JE, Fairhurst-Hunter Z, Farmaki AE, Faul JD, Fernandez-Lopez JC, Forer L, Francescatto M, Freitag-Wolf S, Fuchsberger C, Galesloot TE, Gao Y, Gao Z, Geller F, Giannakopoulou O, Giulianini F, Gjesing AP, Goel A, Gordon SD, Gorski M, Grove J, Guo X, Gustafsson S, Haessler J, Hansen TF, Havulinna AS, Haworth SJ, He J, Heard-Costa N, … See abstract for full author list ➔ Yengo L, et al. Nature. 2022 Oct;610(7933):704-712. doi: 10.1038/s41586-022-05275-y. Epub 2022 Oct 12. Nature. 2022. PMID: 36224396 Free PMC article.
Genetic loci and prioritization of genes for kidney function decline derived from a meta-analysis of 62 longitudinal genome-wide association studies.
Gorski M, Rasheed H, Teumer A, Thomas LF, Graham SE, Sveinbjornsson G, Winkler TW, Günther F, Stark KJ, Chai JF, Tayo BO, Wuttke M, Li Y, Tin A, Ahluwalia TS, Ärnlöv J, Åsvold BO, Bakker SJL, Banas B, Bansal N, Biggs ML, Biino G, Böhnke M, Boerwinkle E, Bottinger EP, Brenner H, Brumpton B, Carroll RJ, Chaker L, Chalmers J, Chee ML, Chee ML, Cheng CY, Chu AY, Ciullo M, Cocca M, Cook JP, Coresh J, Cusi D, de Borst MH, Degenhardt F, Eckardt KU, Endlich K, Evans MK, Feitosa MF, Franke A, Freitag-Wolf S, Fuchsberger C, Gampawar P, Gansevoort RT, Ghanbari M, Ghasemi S, Giedraitis V, Gieger C, Gudbjartsson DF, Hallan S, Hamet P, Hishida A, Ho K, Hofer E, Holleczek B, Holm H, Hoppmann A, Horn K, Hutri-Kähönen N, Hveem K, Hwang SJ, Ikram MA, Josyula NS, Jung B, Kähönen M, Karabegović I, Khor CC, Koenig W, Kramer H, Krämer BK, Kühnel B, Kuusisto J, Laakso M, Lange LA, Lehtimäki T, Li M, Lieb W; Lifelines Cohort Study; Lind L, Lindgren CM, Loos RJF, Lukas MA, Lyytikäinen LP, Mahajan A, Matias-Garcia PR, Meisinger C, Meitinger T, Melander O, Milaneschi Y, Mishra PP, Mononen N, Morris AP, Mychaleckyj JC, Nadkarni GN, Naito M, Nakatochi M, Nalls MA, Nauck M, Nikus K, Ning B, Nolte IM, Nutile T,… See abstract for full author list ➔ Gorski M, et al. Kidney Int. 2022 Sep;102(3):624-639. doi: 10.1016/j.kint.2022.05.021. Epub 2022 Jun 16. Kidney Int. 2022. PMID: 35716955 Free PMC article.
Genome-wide association study of musical beat synchronization demonstrates high polygenicity.
Niarchou M, Gustavson DE, Sathirapongsasuti JF, Anglada-Tort M, Eising E, Bell E, McArthur E, Straub P; 23andMe Research Team; McAuley JD, Capra JA, Ullén F, Creanza N, Mosing MA, Hinds DA, Davis LK, Jacoby N, Gordon RL. Niarchou M, et al. Nat Hum Behav. 2022 Sep;6(9):1292-1309. doi: 10.1038/s41562-022-01359-x. Epub 2022 Jun 16. Nat Hum Behav. 2022. PMID: 35710621 Free PMC article.
Race, Genotype, and Azathioprine Discontinuation : A Cohort Study.
Dickson AL, Daniel LL, Jackson E, Zanussi J, Yang W, Plummer WD, Dupont WD, Wei WQ, Nepal P, Hung AM, Cox NJ, Van Driest SL, Feng Q, Yang JJ, Stein CM, Mosley JD, Chung CP. Dickson AL, et al. Ann Intern Med. 2022 Aug;175(8):1092-1099. doi: 10.7326/M21-4675. Epub 2022 Jun 21. Ann Intern Med. 2022. PMID: 35724382 Free PMC article.
ABO O blood group as a risk factor for platelet reactivity in heparin-induced thrombocytopenia.
Karnes JH, Rollin J, Giles JB, Martinez KL, Steiner HE, Shaffer CM, Momozawa Y, Inai C, Bombin A, Shi M, Mosley JD, Stanaway I, Selleng K, Thiele T, Mushiroda T, Pouplard C, Heddle NM, Kubo M, Phillips EJ, Warkentin TE, Gruel Y, Greinacher A, Roden DM. Karnes JH, et al. Blood. 2022 Jul 21;140(3):274-284. doi: 10.1182/blood.2021014240. Blood. 2022. PMID: 35377938 Free PMC article.
Multivariate GWAS of psychiatric disorders and their cardinal symptoms reveal two dimensions of cross-cutting genetic liabilities.
Mallard TT, Linnér RK, Grotzinger AD, Sanchez-Roige S, Seidlitz J, Okbay A, de Vlaming R, Meddens SFW; Bipolar Disorder Working Group of the Psychiatric Genomics Consortium; Palmer AA, Davis LK, Tucker-Drob EM, Kendler KS, Keller MC, Koellinger PD, Harden KP. Mallard TT, et al. Cell Genom. 2022 Jun 8;2(6):100140. doi: 10.1016/j.xgen.2022.100140. Epub 2022 Jun 8. Cell Genom. 2022. PMID: 35812988 Free PMC article.
Genetic Architecture of Plasma Alpha-Aminoadipic Acid Reveals a Relationship With High-Density Lipoprotein Cholesterol.
Shi M, Wang C, Mei H, Temprosa M, Florez JC, Tripputi M, Merino J, Lipworth L, Shu XO, Gerszten RE, Wang TJ, Beckman JA, Gamboa JL, Mosley JD, Ferguson JF; Diabetes Prevention Program Research Group. Shi M, et al. J Am Heart Assoc. 2022 Jun 7;11(11):e024388. doi: 10.1161/JAHA.121.024388. Epub 2022 May 27. J Am Heart Assoc. 2022. PMID: 35621206 Free PMC article.
Predicted expression of genes involved in the thiopurine metabolic pathway and azathioprine discontinuation due to myelotoxicity.
Daniel LL, Dickson AL, Zanussi JT, Miller-Fleming TW, Straub PS, Wei WQ, Plummer WD, Dupont WD, Liu G, Anandi P, Reese TS, Birdwell KA, Kawai VK, Hung AM, Cox NJ, Feng Q, Stein CM, Chung CP. Daniel LL, et al. Clin Transl Sci. 2022 Apr;15(4):859-865. doi: 10.1111/cts.13243. Epub 2022 Feb 20. Clin Transl Sci. 2022. PMID: 35118815 Free PMC article.
High burden of clonal hematopoiesis in first responders exposed to the World Trade Center disaster.
Jasra S, Giricz O, Zeig-Owens R, Pradhan K, Goldfarb DG, Barreto-Galvez A, Silver AJ, Chen J, Sahu S, Gordon-Mitchell S, Choudhary GS, Aluri S, Bhagat TD, Shastri A, Bejan CA, Stockton SS, Spaulding TP, Thiruthuvanathan V, Goto H, Gerhardt J, Haider SH, Veerappan A, Bartenstein M, Nwankwo G, Landgren O, Weiden MD, Lekostaj J, Bender R, Fletcher F, Greenberger L, Ebert BL, Steidl U, Will B, Nolan A, Madireddy A, Savona MR, Prezant DJ, Verma A. Jasra S, et al. Nat Med. 2022 Mar;28(3):468-471. doi: 10.1038/s41591-022-01708-3. Epub 2022 Mar 7. Nat Med. 2022. PMID: 35256801 Free PMC article.
Genetically regulated multi-omics study for symptom clusters of posttraumatic stress disorder highlights pleiotropy with hematologic and cardio-metabolic traits.
Pathak GA, Singh K, Wendt FR, Fleming TW, Overstreet C, Koller D, Tylee DS, De Angelis F, Cabrera Mendoza B, Levey DF, Koenen KC, Krystal JH, Pietrzak RH, O' Donell C, Gaziano JM, Falcone G, Stein MB, Gelernter J, Pasaniuc B, Mancuso N, Davis LK, Polimanti R. Pathak GA, et al. Mol Psychiatry. 2022 Mar;27(3):1394-1404. doi: 10.1038/s41380-022-01488-9. Epub 2022 Mar 3. Mol Psychiatry. 2022. PMID: 35241783 Free PMC article.
Genetic Examination of Hematological Parameters in SARS-CoV-2 Infection and COVID-19.
Rowland B, Sun Q, Wang W, Miller-Fleming T, Cox N, Graff M, Faucon A, Shuey MM, Blue EE, Auer P, Li Y, Sankaran VG, Reiner AP, Raffield LM. Rowland B, et al. medRxiv [Preprint]. 2022 Feb 28:2022.02.28.22271562. doi: 10.1101/2022.02.28.22271562. medRxiv. 2022. Update in: Blood Cells Mol Dis. 2023 Nov;103:102782. doi: 10.1016/j.bcmd.2023.102782. PMID: 35262092 Free PMC article. Updated. Preprint.
Analyses of biomarker traits in diverse UK biobank participants identify associations missed by European-centric analysis strategies.
Sun Q, Graff M, Rowland B, Wen J, Huang L, Miller-Fleming TW, Haessler J, Preuss MH, Chai JF, Lee MP, Avery CL, Cheng CY, Franceschini N, Sim X, Cox NJ, Kooperberg C, North KE, Li Y, Raffield LM. Sun Q, et al. J Hum Genet. 2022 Feb;67(2):87-93. doi: 10.1038/s10038-021-00968-0. Epub 2021 Aug 11. J Hum Genet. 2022. PMID: 34376796 Free PMC article.
Population-based genetic effects for developmental stuttering.
Polikowsky HG, Shaw DM, Petty LE, Chen HH, Pruett DG, Linklater JP, Viljoen KZ, Beilby JM, Highland HM, Levitt B, Avery CL, Mullan Harris K, Jones RM, Below JE, Kraft SJ. Polikowsky HG, et al. HGG Adv. 2021 Dec 2;3(1):100073. doi: 10.1016/j.xhgg.2021.100073. eCollection 2022 Jan 13. HGG Adv. 2021. PMID: 35047858 Free PMC article.
Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed.
Taub MA, Conomos MP, Keener R, Iyer KR, Weinstock JS, Yanek LR, Lane J, Miller-Fleming TW, Brody JA, Raffield LM, McHugh CP, Jain D, Gogarten SM, Laurie CA, Keramati A, Arvanitis M, Smith AV, Heavner B, Barwick L, Becker LC, Bis JC, Blangero J, Bleecker ER, Burchard EG, Celedón JC, Chang YPC, Custer B, Darbar D, de las Fuentes L, DeMeo DL, Freedman BI, Garrett ME, Gladwin MT, Heckbert SR, Hidalgo BA, Irvin MR, Islam T, Johnson WC, Kaab S, Launer L, Lee J, Liu S, Moscati A, North KE, Peyser PA, Rafaels N, Seidman C, Weeks DE, Wen F, Wheeler MM, Williams LK, Yang IV, Zhao W, Aslibekyan S, Auer PL, Bowden DW, Cade BE, Chen Z, Cho MH, Cupples LA, Curran JE, Daya M, Deka R, Eng C, Fingerlin TE, Guo X, Hou L, Hwang SJ, Johnsen JM, Kenny EE, Levin AM, Liu C, Minster RL, Naseri T, Nouraie M, Reupena MS, Sabino EC, Smith JA, Smith NL, Su JL, Taylor JG, Telen MJ, Tiwari HK, Tracy RP, White MJ, Zhang Y, Wiggins KL, Weiss ST, Vasan RS, Taylor KD, Sinner MF, Silverman EK, Shoemaker MB, Sheu WH, Sciurba F, Schwartz DA, Rotter JI, Roden D, Redline S, Raby BA, Psaty BM, Peralta JM, Palmer ND, Nekhai S, Montgomery CG, Mitchell BD, Meyers DA, McGarvey ST; NHLBI CARE Network; Mak AC, Loos RJ, Kumar … See abstract for full author list ➔ Taub MA, et al. Cell Genom. 2022 Jan 12;2(1):100084. doi: 10.1016/j.xgen.2021.100084. Epub 2022 Jan 13. Cell Genom. 2022. PMID: 35530816 Free PMC article.
TPMT and NUDT15 Variants Predict Discontinuation of Azathioprine for Myelotoxicity in Patients with Inflammatory Disease: Real-World Clinical Results.
Dickson AL, Daniel LL, Zanussi J, Dale Plummer W, Wei WQ, Liu G, Reese T, Anandi P, Birdwell KA, Kawai V, Cox NJ, Dupont WD, Hung AM, Feng Q, Stein CM, Chung CP. Dickson AL, et al. Clin Pharmacol Ther. 2022 Jan;111(1):263-271. doi: 10.1002/cpt.2428. Epub 2021 Oct 12. Clin Pharmacol Ther. 2022. PMID: 34582038 Free PMC article.
Item-Level Genome-Wide Association Study of the Alcohol Use Disorders Identification Test in Three Population-Based Cohorts.
Mallard TT, Savage JE, Johnson EC, Huang Y, Edwards AC, Hottenga JJ, Grotzinger AD, Gustavson DE, Jennings MV, Anokhin A, Dick DM, Edenberg HJ, Kramer JR, Lai D, Meyers JL, Pandey AK, Harden KP, Nivard MG, de Geus EJC, Boomsma DI, Agrawal A, Davis LK, Clarke TK, Palmer AA, Sanchez-Roige S. Mallard TT, et al. Am J Psychiatry. 2022 Jan;179(1):58-70. doi: 10.1176/appi.ajp.2020.20091390. Epub 2021 May 14. Am J Psychiatry. 2022. PMID: 33985350 Free PMC article.
Soluble Urokinase Plasminogen Activator Receptor: Genetic Variation and Cardiovascular Disease Risk in Black Adults.
Olson NC, Raffield LM, Moxley AH, Miller-Fleming TW, Auer PL, Franceschini N, Ngo D, Thornton TA, Lange EM, Li Y, Nickerson DA, Zakai NA, Gerszten RE, Cox NJ, Correa A, Mohlke KL, Reiner AP. Olson NC, et al. Circ Genom Precis Med. 2021 Dec;14(6):e003421. doi: 10.1161/CIRCGEN.121.003421. Epub 2021 Oct 28. Circ Genom Precis Med. 2021. PMID: 34706549 Free PMC article.
Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes.
Vysotskiy M, Zhong X, Miller-Fleming TW, Zhou D; Autism Working Group of the Psychiatric Genomics Consortium^; Bipolar Disorder Working Group of the Psychiatric Genomics Consortium^; Schizophrenia Working Group of the Psychiatric Genomics Consortium^; Cox NJ, Weiss LA. Vysotskiy M, et al. Genome Med. 2021 Oct 29;13(1):172. doi: 10.1186/s13073-021-00972-1. Genome Med. 2021. PMID: 34715901 Free PMC article.
Multivariate analysis of 1.5 million people identifies genetic associations with traits related to self-regulation and addiction.
Karlsson Linnér R, Mallard TT, Barr PB, Sanchez-Roige S, Madole JW, Driver MN, Poore HE, de Vlaming R, Grotzinger AD, Tielbeek JJ, Johnson EC, Liu M, Rosenthal SB, Ideker T, Zhou H, Kember RL, Pasman JA, Verweij KJH, Liu DJ, Vrieze S; COGA Collaborators; Kranzler HR, Gelernter J, Harris KM, Tucker-Drob EM, Waldman ID, Palmer AA, Harden KP, Koellinger PD, Dick DM. Karlsson Linnér R, et al. Nat Neurosci. 2021 Oct;24(10):1367-1376. doi: 10.1038/s41593-021-00908-3. Epub 2021 Aug 26. Nat Neurosci. 2021. PMID: 34446935 Free PMC article.
Association Between Genetic Variation in Blood Pressure and Increased Lifetime Risk of Peripheral Artery Disease.
Levin MG, Klarin D, Walker VM, Gill D, Lynch J, Hellwege JN, Keaton JM, Lee KM, Assimes TL, Natarajan P, Hung AM, Edwards TL, Rader DJ, Gaziano JM, Davies NM, Tsao PS, Chang KM, Voight BF, Damrauer SM; VA Million Veteran Program. Levin MG, et al. Arterioscler Thromb Vasc Biol. 2021 Jun;41(6):2027-2034. doi: 10.1161/ATVBAHA.120.315482. Epub 2021 Apr 15. Arterioscler Thromb Vasc Biol. 2021. PMID: 33853351 Free PMC article.
Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline.
Gorski M, Jung B, Li Y, Matias-Garcia PR, Wuttke M, Coassin S, Thio CHL, Kleber ME, Winkler TW, Wanner V, Chai JF, Chu AY, Cocca M, Feitosa MF, Ghasemi S, Hoppmann A, Horn K, Li M, Nutile T, Scholz M, Sieber KB, Teumer A, Tin A, Wang J, Tayo BO, Ahluwalia TS, Almgren P, Bakker SJL, Banas B, Bansal N, Biggs ML, Boerwinkle E, Bottinger EP, Brenner H, Carroll RJ, Chalmers J, Chee ML, Chee ML, Cheng CY, Coresh J, de Borst MH, Degenhardt F, Eckardt KU, Endlich K, Franke A, Freitag-Wolf S, Gampawar P, Gansevoort RT, Ghanbari M, Gieger C, Hamet P, Ho K, Hofer E, Holleczek B, Xian Foo VH, Hutri-Kähönen N, Hwang SJ, Ikram MA, Josyula NS, Kähönen M, Khor CC, Koenig W, Kramer H, Krämer BK, Kühnel B, Lange LA, Lehtimäki T, Lieb W; Lifelines Cohort Study; Regeneron Genetics Center; Loos RJF, Lukas MA, Lyytikäinen LP, Meisinger C, Meitinger T, Melander O, Milaneschi Y, Mishra PP, Mononen N, Mychaleckyj JC, Nadkarni GN, Nauck M, Nikus K, Ning B, Nolte IM, O'Donoghue ML, Orho-Melander M, Pendergrass SA, Penninx BWJH, Preuss MH, Psaty BM, Raffield LM, Raitakari OT, Rettig R, Rheinberger M, Rice KM, Rosenkranz AR, Rossing P, Rotter JI, Sabanayagam C, Schmidt H, Schmidt R, Schöttker B, Schulz CA, Se… See abstract for full author list ➔ Gorski M, et al. Kidney Int. 2021 Apr;99(4):926-939. doi: 10.1016/j.kint.2020.09.030. Epub 2020 Oct 31. Kidney Int. 2021. PMID: 33137338 Free PMC article.
Integrative analyses identify susceptibility genes underlying COVID-19 hospitalization.
Pathak GA, Singh K, Miller-Fleming TW, Wendt FR, Ehsan N, Hou K, Johnson R, Lu Z, Gopalan S, Yengo L, Mohammadi P, Pasaniuc B, Polimanti R, Davis LK, Mancuso N. Pathak GA, et al. medRxiv [Preprint]. 2020 Dec 8:2020.12.07.20245308. doi: 10.1101/2020.12.07.20245308. medRxiv. 2020. Update in: Nat Commun. 2021 Jul 27;12(1):4569. doi: 10.1038/s41467-021-24824-z. PMID: 33330876 Free PMC article. Updated. Preprint.
A large-scale genome-wide association study meta-analysis of cannabis use disorder.
Johnson EC, Demontis D, Thorgeirsson TE, Walters RK, Polimanti R, Hatoum AS, Sanchez-Roige S, Paul SE, Wendt FR, Clarke TK, Lai D, Reginsson GW, Zhou H, He J, Baranger DAA, Gudbjartsson DF, Wedow R, Adkins DE, Adkins AE, Alexander J, Bacanu SA, Bigdeli TB, Boden J, Brown SA, Bucholz KK, Bybjerg-Grauholm J, Corley RP, Degenhardt L, Dick DM, Domingue BW, Fox L, Goate AM, Gordon SD, Hack LM, Hancock DB, Hartz SM, Hickie IB, Hougaard DM, Krauter K, Lind PA, McClintick JN, McQueen MB, Meyers JL, Montgomery GW, Mors O, Mortensen PB, Nordentoft M, Pearson JF, Peterson RE, Reynolds MD, Rice JP, Runarsdottir V, Saccone NL, Sherva R, Silberg JL, Tarter RE, Tyrfingsson T, Wall TL, Webb BT, Werge T, Wetherill L, Wright MJ, Zellers S, Adams MJ, Bierut LJ, Boardman JD, Copeland WE, Farrer LA, Foroud TM, Gillespie NA, Grucza RA, Harris KM, Heath AC, Hesselbrock V, Hewitt JK, Hopfer CJ, Horwood J, Iacono WG, Johnson EO, Kendler KS, Kennedy MA, Kranzler HR, Madden PAF, Maes HH, Maher BS, Martin NG, McGue M, McIntosh AM, Medland SE, Nelson EC, Porjesz B, Riley BP, Stallings MC, Vanyukov MM, Vrieze S; Psychiatric Genomics Consortium Substance Use Disorders Workgroup; Davis LK, Bogdan R, Gelernter J,… See abstract for full author list ➔ Johnson EC, et al. Lancet Psychiatry. 2020 Dec;7(12):1032-1045. doi: 10.1016/S2215-0366(20)30339-4. Epub 2020 Oct 20. Lancet Psychiatry. 2020. PMID: 33096046 Free PMC article.
Pleiotropy in the Genetic Predisposition to Rheumatoid Arthritis: A Phenome-Wide Association Study and Inverse Variance-Weighted Meta-Analysis.
Kawai VK, Shi M, Feng Q, Chung CP, Liu G, Cox NJ, Jarvik GP, Lee MTM, Hebbring SJ, Harley JB, Kaufman KM, Namjou B, Larson E, Gordon AS, Roden DM, Stein CM, Mosley JD; eMERGE Investigators. Kawai VK, et al. Arthritis Rheumatol. 2020 Sep;72(9):1483-1492. doi: 10.1002/art.41291. Epub 2020 Aug 6. Arthritis Rheumatol. 2020. PMID: 32307929 Free PMC article.
Association of FADS1/2 Locus Variants and Polyunsaturated Fatty Acids With Aortic Stenosis.
Chen HY, Cairns BJ, Small AM, Burr HA, Ambikkumar A, Martinsson A, Thériault S, Munter HM, Steffen B, Zhang R, Levinson RT, Shaffer CM, Rong J, Sonestedt E, Dufresne L, Ljungberg J, Näslund U, Johansson B, Ranatunga DK, Whitmer RA, Budoff MJ, Nguyen A, Vasan RS, Larson MG, Harris WS, Damrauer SM, Stark KD, Boekholdt SM, Wareham NJ, Pibarot P, Arsenault BJ, Mathieu P, Gudnason V, O'Donnell CJ, Rotter JI, Tsai MY, Post WS, Clarke R, Söderberg S, Bossé Y, Wells QS, Smith JG, Rader DJ, Lathrop M, Engert JC, Thanassoulis G. Chen HY, et al. JAMA Cardiol. 2020 Jun 1;5(6):694-702. doi: 10.1001/jamacardio.2020.0246. JAMA Cardiol. 2020. PMID: 32186652 Free PMC article.
The polygenic architecture of left ventricular mass mirrors the clinical epidemiology.
Mosley JD, Levinson RT, Farber-Eger E, Edwards TL, Hellwege JN, Hung AM, Giri A, Shuey MM, Shaffer CM, Shi M, Brittain EL, Chung WK, Kullo IJ, Arruda-Olson AM, Jarvik GP, Larson EB, Crosslin DR, Williams MS, Borthwick KM, Hakonarson H, Denny JC, Wang TJ, Stein CM, Roden DM, Wells QS. Mosley JD, et al. Sci Rep. 2020 May 5;10(1):7561. doi: 10.1038/s41598-020-64525-z. Sci Rep. 2020. PMID: 32372017 Free PMC article.
Mendelian randomisation analysis of red cell distribution width in pulmonary arterial hypertension.
Ulrich A, Wharton J, Thayer TE, Swietlik EM, Assad TR, Desai AA, Gräf S, Harbaum L, Humbert M, Morrell NW, Nichols WC, Soubrier F, Southgate L, Trégouët DA, Trembath RC, Brittain EL, Wilkins MR, Prokopenko I, Rhodes CJ; NIHR BioResource – Rare Diseases Consortium; UK PAH Cohort Study Consortium; US PAH Biobank Consortium. Ulrich A, et al. Eur Respir J. 2020 Feb 12;55(2):1901486. doi: 10.1183/13993003.01486-2019. Print 2020 Feb. Eur Respir J. 2020. PMID: 31744833 Free PMC article.
Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes.
Din L, Sheikh M, Kosaraju N, Smedby KE, Bernatsky S, Berndt SI, Skibola CF, Nieters A, Wang S, McKay JD, Cocco P, Maynadié M, Foretová L, Staines A, Mack TM, de Sanjosé S, Vyse TJ, Padyukov L, Monnereau A, Arslan AA, Moore A, Brooks-Wilson AR, Novak AJ, Glimelius B, Birmann BM, Link BK, Stewart C, Vajdic CM, Haioun C, Magnani C, Conti DV, Cox DG, Casabonne D, Albanes D, Kane E, Roman E, Muzi G, Salles G, Giles GG, Adami HO, Ghesquières H, De Vivo I, Clavel J, Cerhan JR, Spinelli JJ, Hofmann J, Vijai J, Curtin K, Costenbader KH, Onel K, Offit K, Teras LR, Morton L, Conde L, Miligi L, Melbye M, Ennas MG, Liebow M, Purdue MP, Glenn M, Southey MC, Din M, Rothman N, Camp NJ, Wong Doo N, Becker N, Pradhan N, Bracci PM, Boffetta P, Vineis P, Brennan P, Kraft P, Lan Q, Severson RK, Vermeulen RCH, Milne RL, Kaaks R, Travis RC, Weinstein SJ, Chanock SJ, Ansell SM, Slager SL, Zheng T, Zhang Y, Benavente Y, Taub Z, Madireddy L, Gourraud PA, Oksenberg JR, Cozen W, Hjalgrim H, Khankhanian P. Din L, et al. Genet Epidemiol. 2019 Oct;43(7):844-863. doi: 10.1002/gepi.22242. Epub 2019 Aug 13. Genet Epidemiol. 2019. PMID: 31407831 Free PMC article.
HLA-A*32:01 is strongly associated with vancomycin-induced drug reaction with eosinophilia and systemic symptoms.
Konvinse KC, Trubiano JA, Pavlos R, James I, Shaffer CM, Bejan CA, Schutte RJ, Ostrov DA, Pilkinton MA, Rosenbach M, Zwerner JP, Williams KB, Bourke J, Martinez P, Rwandamuriye F, Chopra A, Watson M, Redwood AJ, White KD, Mallal SA, Phillips EJ. Konvinse KC, et al. J Allergy Clin Immunol. 2019 Jul;144(1):183-192. doi: 10.1016/j.jaci.2019.01.045. Epub 2019 Feb 16. J Allergy Clin Immunol. 2019. PMID: 30776417 Free PMC article.
Association of Thyroid Function Genetic Predictors With Atrial Fibrillation: A Phenome-Wide Association Study and Inverse-Variance Weighted Average Meta-analysis.
Salem JE, Shoemaker MB, Bastarache L, Shaffer CM, Glazer AM, Kroncke B, Wells QS, Shi M, Straub P, Jarvik GP, Larson EB, Velez Edwards DR, Edwards TL, Davis LK, Hakonarson H, Weng C, Fasel D, Knollmann BC, Wang TJ, Denny JC, Ellinor PT, Roden DM, Mosley JD. Salem JE, et al. JAMA Cardiol. 2019 Feb 1;4(2):136-143. doi: 10.1001/jamacardio.2018.4615. JAMA Cardiol. 2019. PMID: 30673079 Free PMC article.
Phenotypic Refinement of Heart Failure in a National Biobank Facilitates Genetic Discovery.
Aragam KG, Chaffin M, Levinson RT, McDermott G, Choi SH, Shoemaker MB, Haas ME, Weng LC, Lindsay ME, Smith JG, Newton-Cheh C, Roden DM, London B; GRADE Investigators; Wells QS, Ellinor PT, Kathiresan S, Lubitz SA; Genetic Risk Assessment of Defibrillator Events (GRADE) Investigators. Aragam KG, et al. Circulation. 2019 Jan 22;139(4):489-501. doi: 10.1161/CIRCULATIONAHA.118.035774. Epub 2018 Nov 11. Circulation. 2019. PMID: 30586722 Free PMC article.
A study paradigm integrating prospective epidemiologic cohorts and electronic health records to identify disease biomarkers.
Mosley JD, Feng Q, Wells QS, Van Driest SL, Shaffer CM, Edwards TL, Bastarache L, Wei WQ, Davis LK, McCarty CA, Thompson W, Chute CG, Jarvik GP, Gordon AS, Palmer MR, Crosslin DR, Larson EB, Carrell DS, Kullo IJ, Pacheco JA, Peissig PL, Brilliant MH, Linneman JG, Namjou B, Williams MS, Ritchie MD, Borthwick KM, Verma SS, Karnes JH, Weiss ST, Wang TJ, Stein CM, Denny JC, Roden DM. Mosley JD, et al. Nat Commun. 2018 Aug 30;9(1):3522. doi: 10.1038/s41467-018-05624-4. Nat Commun. 2018. PMID: 30166544 Free PMC article.
Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation.
Gamazon ER, Segrè AV, van de Bunt M, Wen X, Xi HS, Hormozdiari F, Ongen H, Konkashbaev A, Derks EM, Aguet F, Quan J; GTEx Consortium; Nicolae DL, Eskin E, Kellis M, Getz G, McCarthy MI, Dermitzakis ET, Cox NJ, Ardlie KG. Gamazon ER, et al. Nat Genet. 2018 Jul;50(7):956-967. doi: 10.1038/s41588-018-0154-4. Epub 2018 Jun 28. Nat Genet. 2018. PMID: 29955180 Free PMC article.
Class II HLA interactions modulate genetic risk for multiple sclerosis.
Moutsianas L, Jostins L, Beecham AH, Dilthey AT, Xifara DK, Ban M, Shah TS, Patsopoulos NA, Alfredsson L, Anderson CA, Attfield KE, Baranzini SE, Barrett J, Binder TMC, Booth D, Buck D, Celius EG, Cotsapas C, D'Alfonso S, Dendrou CA, Donnelly P, Dubois B, Fontaine B, Fugger L, Goris A, Gourraud PA, Graetz C, Hemmer B, Hillert J; International IBD Genetics Consortium (IIBDGC); Kockum I, Leslie S, Lill CM, Martinelli-Boneschi F, Oksenberg JR, Olsson T, Oturai A, Saarela J, Søndergaard HB, Spurkland A, Taylor B, Winkelmann J, Zipp F, Haines JL, Pericak-Vance MA, Spencer CCA, Stewart G, Hafler DA, Ivinson AJ, Harbo HF, Hauser SL, De Jager PL, Compston A, McCauley JL, Sawcer S, McVean G. Moutsianas L, et al. Nat Genet. 2015 Oct;47(10):1107-1113. doi: 10.1038/ng.3395. Epub 2015 Sep 7. Nat Genet. 2015. PMID: 26343388 Free PMC article.
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.
International Multiple Sclerosis Genetics Consortium (IMSGC); Beecham AH, Patsopoulos NA, Xifara DK, Davis MF, Kemppinen A, Cotsapas C, Shah TS, Spencer C, Booth D, Goris A, Oturai A, Saarela J, Fontaine B, Hemmer B, Martin C, Zipp F, D'Alfonso S, Martinelli-Boneschi F, Taylor B, Harbo HF, Kockum I, Hillert J, Olsson T, Ban M, Oksenberg JR, Hintzen R, Barcellos LF; Wellcome Trust Case Control Consortium 2 (WTCCC2); International IBD Genetics Consortium (IIBDGC); Agliardi C, Alfredsson L, Alizadeh M, Anderson C, Andrews R, Søndergaard HB, Baker A, Band G, Baranzini SE, Barizzone N, Barrett J, Bellenguez C, Bergamaschi L, Bernardinelli L, Berthele A, Biberacher V, Binder TM, Blackburn H, Bomfim IL, Brambilla P, Broadley S, Brochet B, Brundin L, Buck D, Butzkueven H, Caillier SJ, Camu W, Carpentier W, Cavalla P, Celius EG, Coman I, Comi G, Corrado L, Cosemans L, Cournu-Rebeix I, Cree BA, Cusi D, Damotte V, Defer G, Delgado SR, Deloukas P, di Sapio A, Dilthey AT, Donnelly P, Dubois B, Duddy M, Edkins S, Elovaara I, Esposito F, Evangelou N, Fiddes B, Field J, Franke A, Freeman C, Frohlich IY, Galimberti D, Gieger C, Gourraud PA, Graetz C, Graham A, Grummel V, Guaschino C, Hadjixenofont… See abstract for full author list ➔ International Multiple Sclerosis Genetics Consortium (IMSGC), et al. Nat Genet. 2013 Nov;45(11):1353-60. doi: 10.1038/ng.2770. Epub 2013 Sep 29. Nat Genet. 2013. PMID: 24076602 Free PMC article.
Genome-wide association study of severity in multiple sclerosis.
International Multiple Sclerosis Genetics Consortium. International Multiple Sclerosis Genetics Consortium. Genes Immun. 2011 Dec;12(8):615-25. doi: 10.1038/gene.2011.34. Epub 2011 Jun 9. Genes Immun. 2011. PMID: 21654844 Free PMC article.
Interrogating the complex role of chromosome 16p13.13 in multiple sclerosis susceptibility: independent genetic signals in the CIITA-CLEC16A-SOCS1 gene complex.
Zuvich RL, Bush WS, McCauley JL, Beecham AH, De Jager PL; International Multiple Sclerosis Genetics Consortium; Ivinson AJ, Compston A, Hafler DA, Hauser SL, Sawcer SJ, Pericak-Vance MA, Barcellos LF, Mortlock DP, Haines JL. Zuvich RL, et al. Hum Mol Genet. 2011 Sep 1;20(17):3517-24. doi: 10.1093/hmg/ddr250. Epub 2011 Jun 8. Hum Mol Genet. 2011. PMID: 21653641 Free PMC article.
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
International Multiple Sclerosis Genetics Consortium; Wellcome Trust Case Control Consortium 2; Sawcer S, Hellenthal G, Pirinen M, Spencer CC, Patsopoulos NA, Moutsianas L, Dilthey A, Su Z, Freeman C, Hunt SE, Edkins S, Gray E, Booth DR, Potter SC, Goris A, Band G, Oturai AB, Strange A, Saarela J, Bellenguez C, Fontaine B, Gillman M, Hemmer B, Gwilliam R, Zipp F, Jayakumar A, Martin R, Leslie S, Hawkins S, Giannoulatou E, D'alfonso S, Blackburn H, Martinelli Boneschi F, Liddle J, Harbo HF, Perez ML, Spurkland A, Waller MJ, Mycko MP, Ricketts M, Comabella M, Hammond N, Kockum I, McCann OT, Ban M, Whittaker P, Kemppinen A, Weston P, Hawkins C, Widaa S, Zajicek J, Dronov S, Robertson N, Bumpstead SJ, Barcellos LF, Ravindrarajah R, Abraham R, Alfredsson L, Ardlie K, Aubin C, Baker A, Baker K, Baranzini SE, Bergamaschi L, Bergamaschi R, Bernstein A, Berthele A, Boggild M, Bradfield JP, Brassat D, Broadley SA, Buck D, Butzkueven H, Capra R, Carroll WM, Cavalla P, Celius EG, Cepok S, Chiavacci R, Clerget-Darpoux F, Clysters K, Comi G, Cossburn M, Cournu-Rebeix I, Cox MB, Cozen W, Cree BA, Cross AH, Cusi D, Daly MJ, Davis E, de Bakker PI, Debouverie M, D'hooghe MB, Dixon K, Dobosi R, Dubo… See abstract for full author list ➔ International Multiple Sclerosis Genetics Consortium, et al. Nature. 2011 Aug 10;476(7359):214-9. doi: 10.1038/nature10251. Nature. 2011. PMID: 21833088 Free PMC article.
A non-synonymous SNP within membrane metalloendopeptidase-like 1 (MMEL1) is associated with multiple sclerosis.
Ban M, McCauley JL, Zuvich R, Baker A, Bergamaschi L, Cox M, Kemppinen A, D'Alfonso S, Guerini FR, Lechner-Scott J, Dudbridge F, Wason J, Robertson NP, De Jager PL, Hafler DA, Barcellos LF, Ivinson AJ, Sexton D, Oksenberg JR, Hauser SL, Pericak-Vance MA, Haines J, Compston A, Sawcer S. Ban M, et al. Genes Immun. 2010 Dec;11(8):660-4. doi: 10.1038/gene.2010.36. Epub 2010 Jun 24. Genes Immun. 2010. PMID: 20574445 Free PMC article.
Evidence for polygenic susceptibility to multiple sclerosis--the shape of things to come.
International Multiple Sclerosis Genetics Consortium (IMSGC); Bush WS, Sawcer SJ, de Jager PL, Oksenberg JR, McCauley JL, Pericak-Vance MA, Haines JL. International Multiple Sclerosis Genetics Consortium (IMSGC), et al. Am J Hum Genet. 2010 Apr 9;86(4):621-5. doi: 10.1016/j.ajhg.2010.02.027. Epub 2010 Apr 1. Am J Hum Genet. 2010. PMID: 20362272 Free PMC article.
Genetic variation in the IL7RA/IL7 pathway increases multiple sclerosis susceptibility.
Zuvich RL, McCauley JL, Oksenberg JR, Sawcer SJ, De Jager PL; International Multiple Sclerosis Genetics Consortium; Aubin C, Cross AH, Piccio L, Aggarwal NT, Evans D, Hafler DA, Compston A, Hauser SL, Pericak-Vance MA, Haines JL. Zuvich RL, et al. Hum Genet. 2010 Mar;127(5):525-35. doi: 10.1007/s00439-010-0789-4. Epub 2010 Jan 30. Hum Genet. 2010. PMID: 20112030 Free PMC article.
Genetics and pathogenesis of multiple sclerosis.
Zuvich RL, McCauley JL, Pericak-Vance MA, Haines JL. Zuvich RL, et al. Semin Immunol. 2009 Dec;21(6):328-33. doi: 10.1016/j.smim.2009.08.003. Epub 2009 Sep 22. Semin Immunol. 2009. PMID: 19775910 Free PMC article. Review.
Refining genetic associations in multiple sclerosis.
International Multiple Sclerosis Genetics Consortium (IMSGC). International Multiple Sclerosis Genetics Consortium (IMSGC). Lancet Neurol. 2008 Jul;7(7):567-9. doi: 10.1016/S1474-4422(08)70122-4. Lancet Neurol. 2008. PMID: 18565446 Free PMC article. No abstract available.
A second major histocompatibility complex susceptibility locus for multiple sclerosis.
Yeo TW, De Jager PL, Gregory SG, Barcellos LF, Walton A, Goris A, Fenoglio C, Ban M, Taylor CJ, Goodman RS, Walsh E, Wolfish CS, Horton R, Traherne J, Beck S, Trowsdale J, Caillier SJ, Ivinson AJ, Green T, Pobywajlo S, Lander ES, Pericak-Vance MA, Haines JL, Daly MJ, Oksenberg JR, Hauser SL, Compston A, Hafler DA, Rioux JD, Sawcer S. Yeo TW, et al. Ann Neurol. 2007 Mar;61(3):228-36. doi: 10.1002/ana.21063. Ann Neurol. 2007. PMID: 17252545 Free PMC article.
A high-density screen for linkage in multiple sclerosis.
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A second-generation genomic screen for multiple sclerosis.
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