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Page 1
MAP1B mutations cause intellectual disability and extensive white matter deficit.
Walters GB, Gustafsson O, Sveinbjornsson G, Eiriksdottir VK, Agustsdottir AB, Jonsdottir GA, Steinberg S, Gunnarsson AF, Magnusson MI, Unnsteinsdottir U, Lee AL, Jonasdottir A, Sigurdsson A, Jonasdottir A, Skuladottir A, Jonsson L, Nawaz MS, Sulem P, Frigge M, Ingason A, Love A, Norddhal GL, Zervas M, Gudbjartsson DF, Ulfarsson MO, Saemundsen E, Stefansson H, Stefansson K. Walters GB, et al. Among authors: jonasdottir a. Nat Commun. 2018 Aug 27;9(1):3456. doi: 10.1038/s41467-018-05595-6. Nat Commun. 2018. PMID: 30150678 Free PMC article.
A whole genome association study in Icelandic multiple sclerosis patients with 4804 markers.
Jonasdottir A, Thorlacius T, Fossdal R, Jonasdottir A, Benediktsson K, Benedikz J, Jonsson HH, Sainz J, Einarsdottir H, Sigurdardottir S, Kristjansdottir G, Sawcer S, Compston A, Stefansson K, Gulcher J. Jonasdottir A, et al. J Neuroimmunol. 2003 Oct;143(1-2):88-92. doi: 10.1016/j.jneuroim.2003.08.018. J Neuroimmunol. 2003. PMID: 14575921
A common inversion under selection in Europeans.
Stefansson H, Helgason A, Thorleifsson G, Steinthorsdottir V, Masson G, Barnard J, Baker A, Jonasdottir A, Ingason A, Gudnadottir VG, Desnica N, Hicks A, Gylfason A, Gudbjartsson DF, Jonsdottir GM, Sainz J, Agnarsson K, Birgisdottir B, Ghosh S, Olafsdottir A, Cazier JB, Kristjansson K, Frigge ML, Thorgeirsson TE, Gulcher JR, Kong A, Stefansson K. Stefansson H, et al. Among authors: jonasdottir a. Nat Genet. 2005 Feb;37(2):129-37. doi: 10.1038/ng1508. Epub 2005 Jan 16. Nat Genet. 2005. PMID: 15654335
A common variant on chromosome 9p21 affects the risk of myocardial infarction.
Helgadottir A, Thorleifsson G, Manolescu A, Gretarsdottir S, Blondal T, Jonasdottir A, Jonasdottir A, Sigurdsson A, Baker A, Palsson A, Masson G, Gudbjartsson DF, Magnusson KP, Andersen K, Levey AI, Backman VM, Matthiasdottir S, Jonsdottir T, Palsson S, Einarsdottir H, Gunnarsdottir S, Gylfason A, Vaccarino V, Hooper WC, Reilly MP, Granger CB, Austin H, Rader DJ, Shah SH, Quyyumi AA, Gulcher JR, Thorgeirsson G, Thorsteinsdottir U, Kong A, Stefansson K. Helgadottir A, et al. Among authors: jonasdottir a. Science. 2007 Jun 8;316(5830):1491-3. doi: 10.1126/science.1142842. Epub 2007 May 3. Science. 2007. PMID: 17478679
Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.
Thorleifsson G, Magnusson KP, Sulem P, Walters GB, Gudbjartsson DF, Stefansson H, Jonsson T, Jonasdottir A, Jonasdottir A, Stefansdottir G, Masson G, Hardarson GA, Petursson H, Arnarsson A, Motallebipour M, Wallerman O, Wadelius C, Gulcher JR, Thorsteinsdottir U, Kong A, Jonasson F, Stefansson K. Thorleifsson G, et al. Among authors: jonasdottir a. Science. 2007 Sep 7;317(5843):1397-400. doi: 10.1126/science.1146554. Epub 2007 Aug 9. Science. 2007. PMID: 17690259
Sequence variants in the RNF212 gene associate with genome-wide recombination rate.
Kong A, Thorleifsson G, Stefansson H, Masson G, Helgason A, Gudbjartsson DF, Jonsdottir GM, Gudjonsson SA, Sverrisson S, Thorlacius T, Jonasdottir A, Hardarson GA, Palsson ST, Frigge ML, Gulcher JR, Thorsteinsdottir U, Stefansson K. Kong A, et al. Among authors: jonasdottir a. Science. 2008 Mar 7;319(5868):1398-401. doi: 10.1126/science.1152422. Epub 2008 Jan 31. Science. 2008. PMID: 18239089
Genetics of gene expression and its effect on disease.
Emilsson V, Thorleifsson G, Zhang B, Leonardson AS, Zink F, Zhu J, Carlson S, Helgason A, Walters GB, Gunnarsdottir S, Mouy M, Steinthorsdottir V, Eiriksdottir GH, Bjornsdottir G, Reynisdottir I, Gudbjartsson D, Helgadottir A, Jonasdottir A, Jonasdottir A, Styrkarsdottir U, Gretarsdottir S, Magnusson KP, Stefansson H, Fossdal R, Kristjansson K, Gislason HG, Stefansson T, Leifsson BG, Thorsteinsdottir U, Lamb JR, Gulcher JR, Reitman ML, Kong A, Schadt EE, Stefansson K. Emilsson V, et al. Among authors: jonasdottir a. Nature. 2008 Mar 27;452(7186):423-8. doi: 10.1038/nature06758. Epub 2008 Mar 16. Nature. 2008. PMID: 18344981
Large recurrent microdeletions associated with schizophrenia.
Stefansson H, Rujescu D, Cichon S, Pietiläinen OP, Ingason A, Steinberg S, Fossdal R, Sigurdsson E, Sigmundsson T, Buizer-Voskamp JE, Hansen T, Jakobsen KD, Muglia P, Francks C, Matthews PM, Gylfason A, Halldorsson BV, Gudbjartsson D, Thorgeirsson TE, Sigurdsson A, Jonasdottir A, Jonasdottir A, Bjornsson A, Mattiasdottir S, Blondal T, Haraldsson M, Magnusdottir BB, Giegling I, Möller HJ, Hartmann A, Shianna KV, Ge D, Need AC, Crombie C, Fraser G, Walker N, Lonnqvist J, Suvisaari J, Tuulio-Henriksson A, Paunio T, Toulopoulou T, Bramon E, Di Forti M, Murray R, Ruggeri M, Vassos E, Tosato S, Walshe M, Li T, Vasilescu C, Mühleisen TW, Wang AG, Ullum H, Djurovic S, Melle I, Olesen J, Kiemeney LA, Franke B; GROUP; Sabatti C, Freimer NB, Gulcher JR, Thorsteinsdottir U, Kong A, Andreassen OA, Ophoff RA, Georgi A, Rietschel M, Werge T, Petursson H, Goldstein DB, Nöthen MM, Peltonen L, Collier DA, St Clair D, Stefansson K. Stefansson H, et al. Among authors: jonasdottir a. Nature. 2008 Sep 11;455(7210):232-6. doi: 10.1038/nature07229. Nature. 2008. PMID: 18668039 Free PMC article.
Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits.
Stacey SN, Gudbjartsson DF, Sulem P, Bergthorsson JT, Kumar R, Thorleifsson G, Sigurdsson A, Jakobsdottir M, Sigurgeirsson B, Benediktsdottir KR, Thorisdottir K, Ragnarsson R, Scherer D, Rudnai P, Gurzau E, Koppova K, Höiom V, Botella-Estrada R, Soriano V, Juberías P, Grasa M, Carapeto FJ, Tabuenca P, Gilaberte Y, Gudmundsson J, Thorlacius S, Helgason A, Thorlacius T, Jonasdottir A, Blondal T, Gudjonsson SA, Jonsson GF, Saemundsdottir J, Kristjansson K, Bjornsdottir G, Sveinsdottir SG, Mouy M, Geller F, Nagore E, Mayordomo JI, Hansson J, Rafnar T, Kong A, Olafsson JH, Thorsteinsdottir U, Stefansson K. Stacey SN, et al. Among authors: jonasdottir a. Nat Genet. 2008 Nov;40(11):1313-8. doi: 10.1038/ng.234. Epub 2008 Oct 12. Nat Genet. 2008. PMID: 18849993
Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche.
Sulem P, Gudbjartsson DF, Rafnar T, Holm H, Olafsdottir EJ, Olafsdottir GH, Jonsson T, Alexandersen P, Feenstra B, Boyd HA, Aben KK, Verbeek AL, Roeleveld N, Jonasdottir A, Styrkarsdottir U, Steinthorsdottir V, Karason A, Stacey SN, Gudmundsson J, Jakobsdottir M, Thorleifsson G, Hardarson G, Gulcher J, Kong A, Kiemeney LA, Melbye M, Christiansen C, Tryggvadottir L, Thorsteinsdottir U, Stefansson K. Sulem P, et al. Among authors: jonasdottir a. Nat Genet. 2009 Jun;41(6):734-8. doi: 10.1038/ng.383. Epub 2009 May 17. Nat Genet. 2009. PMID: 19448622
104 results