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Page 1
Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals.
Kosmicki JA, Horowitz JE, Banerjee N, Lanche R, Marcketta A, Maxwell E, Bai X, Sun D, Backman JD, Sharma D, Kury FSP, Kang HM, O'Dushlaine C, Yadav A, Mansfield AJ, Li AH, Watanabe K, Gurski L, McCarthy SE, Locke AE, Khalid S, O'Keeffe S, Mbatchou J, Chazara O, Huang Y, Kvikstad E, O'Neill A, Nioi P, Parker MM, Petrovski S, Runz H, Szustakowski JD, Wang Q, Wong E, Cordova-Palomera A, Smith EN, Szalma S, Zheng X, Esmaeeli S, Davis JW, Lai YP, Chen X, Justice AE, Leader JB, Mirshahi T, Carey DJ, Verma A, Sirugo G, Ritchie MD, Rader DJ, Povysil G, Goldstein DB, Kiryluk K, Pairo-Castineira E, Rawlik K, Pasko D, Walker S, Meynert A, Kousathanas A, Moutsianas L, Tenesa A, Caulfield M, Scott R, Wilson JF, Baillie JK, Butler-Laporte G, Nakanishi T, Lathrop M, Richards JB; Regeneron Genetics Center; UKB Exome Sequencing Consortium; Jones M, Balasubramanian S, Salerno W, Shuldiner AR, Marchini J, Overton JD, Habegger L, Cantor MN, Reid JG, Baras A, Abecasis GR, Ferreira MAR. Kosmicki JA, et al. Among authors: runz h. Am J Hum Genet. 2021 Jul 1;108(7):1350-1355. doi: 10.1016/j.ajhg.2021.05.017. Epub 2021 Jun 3. Am J Hum Genet. 2021. PMID: 34115965 Free PMC article.
TWINGEN - protocol for an observational clinical biobank recall and biomarker study to identify individuals with high risk of Alzheimer's disease.
Vuoksimaa E, Saari TT, Aaltonen A, Aaltonen S, Herukka SK, Iso-Markku P, Kokkola T, Kyttälä A, Kärkkäinen S, Liedes H, Ollikainen M, Palviainen T, Ruotsalainen I, Toivola A, Urjansson M, Vasankari T, Vähä-Ypyä H, Forsberg MM, Hiltunen M, Jalanko A, Kälviäinen R, Kuopio T, Lähteenmäki J, Nyberg P, Männikkö M, Serpi R, Siltanen S; FinnGen; Palotie A, Kaprio J, Runz H, Julkunen V. Vuoksimaa E, et al. Among authors: runz h. medRxiv [Preprint]. 2023 Nov 7:2023.11.03.23298018. doi: 10.1101/2023.11.03.23298018. medRxiv. 2023. PMID: 37965200 Free PMC article. Preprint.
Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.
Thormaehlen AS, Schuberth C, Won HH, Blattmann P, Joggerst-Thomalla B, Theiss S, Asselta R, Duga S, Merlini PA, Ardissino D, Lander ES, Gabriel S, Rader DJ, Peloso GM, Pepperkok R, Kathiresan S, Runz H. Thormaehlen AS, et al. Among authors: runz h. PLoS Genet. 2015 Feb 3;11(2):e1004855. doi: 10.1371/journal.pgen.1004855. eCollection 2015 Feb. PLoS Genet. 2015. PMID: 25647241 Free PMC article.
Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank.
Szustakowski JD, Balasubramanian S, Kvikstad E, Khalid S, Bronson PG, Sasson A, Wong E, Liu D, Wade Davis J, Haefliger C, Katrina Loomis A, Mikkilineni R, Noh HJ, Wadhawan S, Bai X, Hawes A, Krasheninina O, Ulloa R, Lopez AE, Smith EN, Waring JF, Whelan CD, Tsai EA, Overton JD, Salerno WJ, Jacob H, Szalma S, Runz H, Hinkle G, Nioi P, Petrovski S, Miller MR, Baras A, Mitnaul LJ, Reid JG; UKB-ESC Research Team. Szustakowski JD, et al. Among authors: runz h. Nat Genet. 2021 Jul;53(7):942-948. doi: 10.1038/s41588-021-00885-0. Epub 2021 Jun 28. Nat Genet. 2021. PMID: 34183854 Review.
Genome-wide association analyses identify 95 risk loci and provide insights into the neurobiology of post-traumatic stress disorder.
Nievergelt CM, Maihofer AX, Atkinson EG, Chen CY, Choi KW, Coleman JRI, Daskalakis NP, Duncan LE, Polimanti R, Aaronson C, Amstadter AB, Andersen SB, Andreassen OA, Arbisi PA, Ashley-Koch AE, Austin SB, Avdibegoviç E, Babić D, Bacanu SA, Baker DG, Batzler A, Beckham JC, Belangero S, Benjet C, Bergner C, Bierer LM, Biernacka JM, Bierut LJ, Bisson JI, Boks MP, Bolger EA, Brandolino A, Breen G, Bressan RA, Bryant RA, Bustamante AC, Bybjerg-Grauholm J, Bækvad-Hansen M, Børglum AD, Børte S, Cahn L, Calabrese JR, Caldas-de-Almeida JM, Chatzinakos C, Cheema S, Clouston SAP, Colodro-Conde L, Coombes BJ, Cruz-Fuentes CS, Dale AM, Dalvie S, Davis LK, Deckert J, Delahanty DL, Dennis MF, Desarnaud F, DiPietro CP, Disner SG, Docherty AR, Domschke K, Dyb G, Kulenović AD, Edenberg HJ, Evans A, Fabbri C, Fani N, Farrer LA, Feder A, Feeny NC, Flory JD, Forbes D, Franz CE, Galea S, Garrett ME, Gelaye B, Gelernter J, Geuze E, Gillespie CF, Goleva SB, Gordon SD, Goçi A, Grasser LR, Guindalini C, Haas M, Hagenaars S, Hauser MA, Heath AC, Hemmings SMJ, Hesselbrock V, Hickie IB, Hogan K, Hougaard DM, Huang H, Huckins LM, Hveem K, Jakovljević M, Javanbakht A, Jenkins GD, Johnson J, Jones I, Jovanovic T, … See abstract for full author list ➔ Nievergelt CM, et al. Among authors: runz h. Nat Genet. 2024 May;56(5):792-808. doi: 10.1038/s41588-024-01707-9. Epub 2024 Apr 18. Nat Genet. 2024. PMID: 38637617
An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease.
Ruotsalainen SE, Partanen JJ, Cichonska A, Lin J, Benner C, Surakka I; FinnGen; Reeve MP, Palta P, Salmi M, Jalkanen S, Ahola-Olli A, Palotie A, Salomaa V, Daly MJ, Pirinen M, Ripatti S, Koskela J. Ruotsalainen SE, et al. Eur J Hum Genet. 2021 Feb;29(2):309-324. doi: 10.1038/s41431-020-00730-8. Epub 2020 Oct 27. Eur J Hum Genet. 2021. PMID: 33110245 Free PMC article.
Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices.
Natarajan P, Pampana A, Graham SE, Ruotsalainen SE, Perry JA, de Vries PS, Broome JG, Pirruccello JP, Honigberg MC, Aragam K, Wolford B, Brody JA, Antonacci-Fulton L, Arden M, Aslibekyan S, Assimes TL, Ballantyne CM, Bielak LF, Bis JC, Cade BE, Do R, Doddapaneni H, Emery LS, Hung YJ, Irvin MR, Khan AT, Lange L, Lee J, Lemaitre RN, Martin LW, Metcalf G, Montasser ME, Moon JY, Muzny D, O'Connell JR, Palmer ND, Peralta JM, Peyser PA, Stilp AM, Tsai M, Wang FF, Weeks DE, Yanek LR, Wilson JG, Abecasis G, Arnett DK, Becker LC, Blangero J, Boerwinkle E, Bowden DW, Chang YC, Chen YI, Choi WJ, Correa A, Curran JE, Daly MJ, Dutcher SK, Ellinor PT, Fornage M, Freedman BI, Gabriel S, Germer S, Gibbs RA, He J, Hveem K, Jarvik GP, Kaplan RC, Kardia SLR, Kenny E, Kim RW, Kooperberg C, Laurie CC, Lee S, Lloyd-Jones DM, Loos RJF, Lubitz SA, Mathias RA, Martinez KAV, McGarvey ST, Mitchell BD, Nickerson DA, North KE, Palotie A, Park CJ, Psaty BM, Rao DC, Redline S, Reiner AP, Seo D, Seo JS, Smith AV, Tracy RP, Vasan RS, Kathiresan S, Cupples LA, Rotter JI, Morrison AC, Rich SS, Ripatti S, Willer C; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; FinnGen; Peloso GM. Natarajan P, et al. Nat Commun. 2021 Apr 12;12(1):2182. doi: 10.1038/s41467-021-22339-1. Nat Commun. 2021. PMID: 33846329 Free PMC article.
Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection.
Zekavat SM, Lin SH, Bick AG, Liu A, Paruchuri K, Wang C, Uddin MM, Ye Y, Yu Z, Liu X, Kamatani Y, Bhattacharya R, Pirruccello JP, Pampana A, Loh PR, Kohli P, McCarroll SA, Kiryluk K, Neale B, Ionita-Laza I, Engels EA, Brown DW, Smoller JW, Green R, Karlson EW, Lebo M, Ellinor PT, Weiss ST, Daly MJ; Biobank Japan Project; FinnGen Consortium; Terao C, Zhao H, Ebert BL, Reilly MP, Ganna A, Machiela MJ, Genovese G, Natarajan P. Zekavat SM, et al. Nat Med. 2021 Jun;27(6):1012-1024. doi: 10.1038/s41591-021-01371-0. Epub 2021 Jun 7. Nat Med. 2021. PMID: 34099924 Free PMC article.
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker AM, Gawor K, Westeneng HJ, Tazelaar GHP, van Eijk KR, Kooyman M, Byrne RP, Doherty M, Heverin M, Al Khleifat A, Iacoangeli A, Shatunov A, Ticozzi N, Cooper-Knock J, Smith BN, Gromicho M, Chandran S, Pal S, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Sendtner M, Meyer T, Başak N, van der Kooi AJ, Ratti A, Fogh I, Gellera C, Lauria G, Corti S, Cereda C, Sproviero D, D'Alfonso S, Sorarù G, Siciliano G, Filosto M, Padovani A, Chiò A, Calvo A, Moglia C, Brunetti M, Canosa A, Grassano M, Beghi E, Pupillo E, Logroscino G, Nefussy B, Osmanovic A, Nordin A, Lerner Y, Zabari M, Gotkine M, Baloh RH, Bell S, Vourc'h P, Corcia P, Couratier P, Millecamps S, Meininger V, Salachas F, Mora Pardina JS, Assialioui A, Rojas-García R, Dion PA, Ross JP, Ludolph AC, Weishaupt JH, Brenner D, Freischmidt A, Bensimon G, Brice A, Durr A, Payan CAM, Saker-Delye S, Wood NW, Topp S, Rademakers R, Tittmann L, Lieb W, Franke A, Ripke S, Braun A, Kraft J, Whiteman DC, Olsen CM, Uitterlinden AG, Hofman A, Rietschel M, Cich… See abstract for full author list ➔ van Rheenen W, et al. Among authors: runz h. Nat Genet. 2021 Dec;53(12):1636-1648. doi: 10.1038/s41588-021-00973-1. Epub 2021 Dec 6. Nat Genet. 2021. PMID: 34873335 Free PMC article.
Genetic associations of protein-coding variants in human disease.
Sun BB, Kurki MI, Foley CN, Mechakra A, Chen CY, Marshall E, Wilk JB; Biogen Biobank Team; Chahine M, Chevalier P, Christé G; FinnGen; Palotie A, Daly MJ, Runz H. Sun BB, et al. Among authors: runz h. Nature. 2022 Mar;603(7899):95-102. doi: 10.1038/s41586-022-04394-w. Epub 2022 Feb 23. Nature. 2022. PMID: 35197637 Free PMC article.
113 results