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Page 1
Large-scale whole-genome sequencing of the Icelandic population.
Gudbjartsson DF, Helgason H, Gudjonsson SA, Zink F, Oddson A, Gylfason A, Besenbacher S, Magnusson G, Halldorsson BV, Hjartarson E, Sigurdsson GT, Stacey SN, Frigge ML, Holm H, Saemundsdottir J, Helgadottir HT, Johannsdottir H, Sigfusson G, Thorgeirsson G, Sverrisson JT, Gretarsdottir S, Walters GB, Rafnar T, Thjodleifsson B, Bjornsson ES, Olafsson S, Thorarinsdottir H, Steingrimsdottir T, Gudmundsdottir TS, Theodors A, Jonasson JG, Sigurdsson A, Bjornsdottir G, Jonsson JJ, Thorarensen O, Ludvigsson P, Gudbjartsson H, Eyjolfsson GI, Sigurdardottir O, Olafsson I, Arnar DO, Magnusson OT, Kong A, Masson G, Thorsteinsdottir U, Helgason A, Sulem P, Stefansson K. Gudbjartsson DF, et al. Among authors: thorarensen o. Nat Genet. 2015 May;47(5):435-44. doi: 10.1038/ng.3247. Epub 2015 Mar 25. Nat Genet. 2015. PMID: 25807286
Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.
Arnadottir GA, Oddsson A, Jensson BO, Gisladottir S, Simon MT, Arnthorsson AO, Katrinardottir H, Fridriksdottir R, Ivarsdottir EV, Jonasdottir A, Jonasdottir A, Barrick R, Saemundsdottir J, le Roux L, Oskarsson GR, Asmundsson J, Steffensen T, Gudmundsson KR, Ludvigsson P, Jonsson JJ, Masson G, Jonsdottir I, Holm H, Jonasson JG, Magnusson OT, Thorarensen O, Abdenur J, Norddahl GL, Gudbjartsson DF, Bjornsson HT, Thorsteinsdottir U, Sulem P, Stefansson K. Arnadottir GA, et al. Among authors: thorarensen o. Nat Commun. 2022 Feb 4;13(1):705. doi: 10.1038/s41467-022-28330-8. Nat Commun. 2022. PMID: 35121750 Free PMC article.
Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura.
Bjornsdottir G, Chalmer MA, Stefansdottir L, Skuladottir AT, Einarsson G, Andresdottir M, Beyter D, Ferkingstad E, Gretarsdottir S, Halldorsson BV, Halldorsson GH, Helgadottir A, Helgason H, Hjorleifsson Eldjarn G, Jonasdottir A, Jonasdottir A, Jonsdottir I, Knowlton KU, Nadauld LD, Lund SH, Magnusson OT, Melsted P, Moore KHS, Oddsson A, Olason PI, Sigurdsson A, Stefansson OA, Saemundsdottir J, Sveinbjornsson G, Tragante V, Unnsteinsdottir U, Walters GB, Zink F, Rødevand L, Andreassen OA, Igland J, Lie RT, Haavik J, Banasik K, Brunak S, Didriksen M, T Bruun M, Erikstrup C, Kogelman LJA, Nielsen KR, Sørensen E, Pedersen OB, Ullum H; DBDS Genetic Consortium; Masson G, Thorsteinsdottir U, Olesen J, Ludvigsson P, Thorarensen O, Bjornsdottir A, Sigurdardottir GR, Sveinsson OA, Ostrowski SR, Holm H, Gudbjartsson DF, Thorleifsson G, Sulem P, Stefansson H, Thorgeirsson TE, Hansen TF, Stefansson K. Bjornsdottir G, et al. Among authors: thorarensen o. Nat Genet. 2023 Nov;55(11):1843-1853. doi: 10.1038/s41588-023-01538-0. Epub 2023 Oct 26. Nat Genet. 2023. PMID: 37884687 Free PMC article.
Interrogating the Genetic Determinants of Tourette's Syndrome and Other Tic Disorders Through Genome-Wide Association Studies.
Yu D, Sul JH, Tsetsos F, Nawaz MS, Huang AY, Zelaya I, Illmann C, Osiecki L, Darrow SM, Hirschtritt ME, Greenberg E, Muller-Vahl KR, Stuhrmann M, Dion Y, Rouleau G, Aschauer H, Stamenkovic M, Schlögelhofer M, Sandor P, Barr CL, Grados M, Singer HS, Nöthen MM, Hebebrand J, Hinney A, King RA, Fernandez TV, Barta C, Tarnok Z, Nagy P, Depienne C, Worbe Y, Hartmann A, Budman CL, Rizzo R, Lyon GJ, McMahon WM, Batterson JR, Cath DC, Malaty IA, Okun MS, Berlin C, Woods DW, Lee PC, Jankovic J, Robertson MM, Gilbert DL, Brown LW, Coffey BJ, Dietrich A, Hoekstra PJ, Kuperman S, Zinner SH, Luðvigsson P, Sæmundsen E, Thorarensen Ó, Atzmon G, Barzilai N, Wagner M, Moessner R, Ophoff R, Pato CN, Pato MT, Knowles JA, Roffman JL, Smoller JW, Buckner RL, Willsey AJ, Tischfield JA, Heiman GA, Stefansson H, Stefansson K, Posthuma D, Cox NJ, Pauls DL, Freimer NB, Neale BM, Davis LK, Paschou P, Coppola G, Mathews CA, Scharf JM; Tourette Association of America International Consortium for Genetics, the Gilles de la Tourette GWAS Replication Initiative, the Tourette International Collaborative Genetics Study, and the Psychiatric Genomics Consortium Tourette Syndrome Working Group. Yu D, et al. Among authors: thorarensen o. Am J Psychiatry. 2019 Mar 1;176(3):217-227. doi: 10.1176/appi.ajp.2018.18070857. Am J Psychiatry. 2019. PMID: 30818990 Free PMC article.
Elevated common variant genetic risk for tourette syndrome in a densely-affected pedigree.
Halvorsen M, Szatkiewicz J, Mudgal P, Yu D; Psychiatric Genomics Consortium TS/OCD Working Group; Nordsletten AE, Mataix-Cols D, Mathews CA, Scharf JM, Mattheisen M, Robertson MM, McQuillin A, Crowley JJ. Halvorsen M, et al. Mol Psychiatry. 2021 Dec;26(12):7522-7529. doi: 10.1038/s41380-021-01277-w. Epub 2021 Sep 15. Mol Psychiatry. 2021. PMID: 34526668 Free PMC article.
NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum.
den Hollander B, Rasing A, Post MA, Klein WM, Oud MM, Brands MM, de Boer L, Engelke UFH, van Essen P, Fuchs SA, Haaxma CA, Jensson BO, Kluijtmans LAJ, Lengyel A, Lichtenbelt KD, Østergaard E, Peters G, Salvarinova R, Simon MEH, Stefansson K, Thorarensen Ó, Ulmen U, Coene KLM, Willemsen MA, Lefeber DJ, van Karnebeek CDM. den Hollander B, et al. Among authors: thorarensen o. Front Neurol. 2021 Jun 7;12:668640. doi: 10.3389/fneur.2021.668640. eCollection 2021. Front Neurol. 2021. PMID: 34163424 Free PMC article.
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. Transl Psychiatry. 2023 Feb 23;13(1):69. doi: 10.1038/s41398-023-02341-5. Transl Psychiatry. 2023. PMID: 36823209 Free PMC article.
17 results