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Page 1
Genome-Wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome.
Tsetsos F, Topaloudi A, Jain P, Yang Z, Yu D, Kolovos P, Tumer Z, Rizzo R, Hartmann A, Depienne C, Worbe Y, Müller-Vahl KR, Cath DC, Boomsma DI, Wolanczyk T, Zekanowski C, Barta C, Nemoda Z, Tarnok Z, Padmanabhuni SS, Buxbaum JD, Grice D, Glennon J, Stefansson H, Hengerer B, Yannaki E, Stamatoyannopoulos JA, Benaroya-Milshtein N, Cardona F, Hedderly T, Heyman I, Huyser C, Mir P, Morer A, Mueller N, Munchau A, Plessen KJ, Porcelli C, Roessner V, Walitza S, Schrag A, Martino D; PGC TS Working Group; TSAICG; TSGeneSEE Initiative; EMTICS Collaborative Group; TS-EUROTRAIN Network; TIC Genetics Collaborative Group; Tischfield JA, Heiman GA, Willsey AJ, Dietrich A, Davis LK, Crowley JJ, Mathews CA, Scharf JM, Georgitsi M, Hoekstra PJ, Paschou P. Tsetsos F, et al. Among authors: stefansson h. Biol Psychiatry. 2024 Jul 15;96(2):114-124. doi: 10.1016/j.biopsych.2023.01.023. Epub 2023 Feb 2. Biol Psychiatry. 2024. PMID: 36738982
Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome.
Jain P, Miller-Fleming T, Topaloudi A, Yu D, Drineas P, Georgitsi M, Yang Z, Rizzo R, Müller-Vahl KR, Tumer Z, Mol Debes N, Hartmann A, Depienne C, Worbe Y, Mir P, Cath DC, Boomsma DI, Roessner V, Wolanczyk T, Janik P, Szejko N, Zekanowski C, Barta C, Nemoda Z, Tarnok Z, Buxbaum JD, Grice D, Glennon J, Stefansson H, Hengerer B, Benaroya-Milshtein N, Cardona F, Hedderly T, Heyman I, Huyser C, Morer A, Mueller N, Munchau A, Plessen KJ, Porcelli C, Walitza S, Schrag A, Martino D; Psychiatric Genomics Consortium Tourette Syndrome Working Group (PGC-TS); EMTICS collaborative group; Dietrich A; TS-EUROTRAIN Network; Mathews CA, Scharf JM, Hoekstra PJ, Davis LK, Paschou P. Jain P, et al. Among authors: stefansson h. Transl Psychiatry. 2023 Feb 23;13(1):69. doi: 10.1038/s41398-023-02341-5. Transl Psychiatry. 2023. PMID: 36823209 Free PMC article.
Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease.
Keller MF, Saad M, Bras J, Bettella F, Nicolaou N, Simón-Sánchez J, Mittag F, Büchel F, Sharma M, Gibbs JR, Schulte C, Moskvina V, Durr A, Holmans P, Kilarski LL, Guerreiro R, Hernandez DG, Brice A, Ylikotila P, Stefánsson H, Majamaa K, Morris HR, Williams N, Gasser T, Heutink P, Wood NW, Hardy J, Martinez M, Singleton AB, Nalls MA; International Parkinson's Disease Genomics Consortium (IPDGC); Wellcome Trust Case Control Consortium 2 (WTCCC2). Keller MF, et al. Among authors: stefansson h. Hum Mol Genet. 2012 Nov 15;21(22):4996-5009. doi: 10.1093/hmg/dds335. Epub 2012 Aug 13. Hum Mol Genet. 2012. PMID: 22892372 Free PMC article.
Migraine, chronic kidney disease and kidney function: observational and genetic analyses.
Zhang W, Zhang L, Yang L, Xiao C, Wu X, Yan P, Cui H, Yang C, Zhu J, Wu X, Tang M, Wang Y, Chen L, Liu Y, Zou Y, Zhang L, Yang C, Yao Y, Li J, Liu Z, Zhang B, Jiang X; International Headache Genetics Consortium. Zhang W, et al. Hum Genet. 2023 Aug;142(8):1185-1200. doi: 10.1007/s00439-023-02575-9. Epub 2023 Jun 12. Hum Genet. 2023. PMID: 37306871 Free PMC article.
A genome-wide association meta-analysis links hidradenitis suppurativa to common and rare sequence variants causing disruption of the Notch and Wnt/β-catenin signaling pathways.
Andersen RK, Stefansdottir L, Riis PT, Halldorsson G, Ferkingstad E, Oddsson A, Walters GB, Olafsdottir TA, Rutsdottir G, Zachariae C, Thomsen SF, Brodersen T, Dinh KM, Knowlton KU, Knight S, Nadauld LD, Banasik K, Brunak S, Hansen TF, Hjalgrim H, Sørensen E, Mikkelsen C, Ullum H, Nyegaard M, Bruun MT, Erikstrup C, Ostrowski SR, Eidsmo L, Saunte DML, Sigurgeirsson B, Orvar KB, Saemundsdottir J, Melsted P, Norddahl GL, Sulem P, Stefansson H, Holm H, Gudbjartsson D, Thorleifsson G, Jonsdottir I, Pedersen OBV, Jemec GBE, Stefansson K. Andersen RK, et al. Among authors: stefansson h. J Am Acad Dermatol. 2024 Dec 5:S0190-9622(24)03292-4. doi: 10.1016/j.jaad.2024.11.050. Online ahead of print. J Am Acad Dermatol. 2024. PMID: 39645042 Free article.
Novel loci and biomedical consequences of iron homoeostasis variation.
Allara E, Bell S, Smith R, Keene SJ, Gill D, Gaziano L, Morselli Gysi D, Wang F, Tragante V, Mason A, Karthikeyan S, Lumbers RT, Bonglack E, Ouwehand W, Roberts DJ, Dowsett J, Ostrowski SR, Larsen MH, Ullum H, Pedersen OB, Brunak S, Banasik K, Erikstrup C; DBDS Genomic Consortium; Mitchell J, Fuchsberger C, Pattaro C, Pramstaller PP, Girelli D, Arvas M, Toivonen J, Molnos S, Peters A, Polasek O, Rudan I, Hayward C, McDonnell C, Pirastu N, Wilson JF, van den Hurk K, Quee F, Ferrucci L, Bandinelli S, Tanaka T, Girotto G, Concas MP, Pecori A, Verweij N, van der Harst P, van de Vegte YJ, Kiemeney LA, Sweep FC, Galesloot TE, Sulem P, Gudbjartsson D, Ferkingstad E; FinnGen Consortium; Djousse L, Cho K, Inouye M, Burgess S, Benyamin B, Oexle K, Swinkels D, Stefansson K, Magnusson M, Ganna A, Gaziano M, Ivey K, Danesh J, Pereira A, Wood AM, Butterworth AS, Di Angelantonio E. Allara E, et al. Commun Biol. 2024 Dec 6;7(1):1631. doi: 10.1038/s42003-024-07115-3. Commun Biol. 2024. PMID: 39643614 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. Among authors: stefansson h. Nat Commun. 2024 Nov 13;15(1):9839. doi: 10.1038/s41467-024-53595-6. Nat Commun. 2024. PMID: 39537604 Free PMC article.
Sequence variants associated with BMI affect disease risk through BMI itself.
Einarsson G, Thorleifsson G, Steinthorsdottir V, Zink F, Helgason H, Olafsdottir T, Rognvaldsson S, Tragante V, Ulfarsson MO, Sveinbjornsson G, Snaebjarnarson AS, Einarsson H, Aegisdottir HM, Jonsdottir GA, Helgadottir A, Gretarsdottir S, Styrkarsdottir U, Arnason HK, Bjarnason R, Sigurdsson E, Arnar DO, Bjornsson ES, Palsson R, Bjornsdottir G, Stefansson H, Thorgeirsson T, Sulem P, Thorsteinsdottir U, Holm H, Gudbjartsson DF, Stefansson K. Einarsson G, et al. Among authors: stefansson h. Nat Commun. 2024 Nov 12;15(1):9335. doi: 10.1038/s41467-024-53568-9. Nat Commun. 2024. PMID: 39532837 Free PMC article.
Gene-based burden tests of rare germline variants identify six cancer susceptibility genes.
Ivarsdottir EV, Gudmundsson J, Tragante V, Sveinbjornsson G, Kristmundsdottir S, Stacey SN, Halldorsson GH, Magnusson MI, Oddsson A, Walters GB, Sigurdsson A, Saevarsdottir S, Beyter D, Thorleifsson G, Halldorsson BV, Melsted P, Stefansson H, Jonsdottir I, Sørensen E, Pedersen OB, Erikstrup C, Bøgsted M, Pøhl M, Røder A, Stroomberg HV, Gögenur I, Hillingsø J, Bojesen SE, Lassen U, Høgdall E, Ullum H, Brunak S, Ostrowski SR; DBDS Genomic Consortium; Sonderby IE, Frei O, Djurovic S, Havdahl A, Moller P, Dominguez-Valentin M, Haavik J, Andreassen OA, Hovig E, Agnarsson BA, Hilmarsson R, Johannsson OT, Valdimarsson T, Jonsson S, Moller PH, Olafsson JH, Sigurgeirsson B, Jonasson JG, Tryggvason G, Holm H, Sulem P, Rafnar T, Gudbjartsson DF, Stefansson K. Ivarsdottir EV, et al. Among authors: stefansson h. Nat Genet. 2024 Nov;56(11):2422-2433. doi: 10.1038/s41588-024-01966-6. Epub 2024 Oct 29. Nat Genet. 2024. PMID: 39472694
339 results