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Page 1
Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality.
Oddsson A, Sulem P, Sveinbjornsson G, Arnadottir GA, Steinthorsdottir V, Halldorsson GH, Atlason BA, Oskarsson GR, Helgason H, Nielsen HS, Westergaard D, Karjalainen JM, Katrinardottir H, Fridriksdottir R, Jensson BO, Tragante V, Ferkingstad E, Jonsson H, Gudjonsson SA, Beyter D, Moore KHS, Thordardottir HB, Kristmundsdottir S, Stefansson OA, Rantapää-Dahlqvist S, Sonderby IE, Didriksen M, Stridh P, Haavik J, Tryggvadottir L, Frei O, Walters GB, Kockum I, Hjalgrim H, Olafsdottir TA, Selbaek G, Nyegaard M, Erikstrup C, Brodersen T, Saevarsdottir S, Olsson T, Nielsen KR, Haraldsson A, Bruun MT, Hansen TF; DBDS Genomic Consortium; Steingrimsdottir T, Jacobsen RL, Lie RT, Djurovic S, Alfredsson L, Lopez de Lapuente Portilla A, Brunak S, Melsted P, Halldorsson BV, Saemundsdottir J, Magnusson OT, Padyukov L, Banasik K, Rafnar T, Askling J, Klareskog L, Pedersen OB, Masson G, Havdahl A, Nilsson B, Andreassen OA, Daly M, Ostrowski SR, Jonsdottir I, Stefansson H, Holm H, Helgason A, Thorsteinsdottir U, Stefansson K, Gudbjartsson DF. Oddsson A, et al. Among authors: stefansson oa, stefansson h, stefansson k. Nat Commun. 2023 Jun 10;14(1):3453. doi: 10.1038/s41467-023-38951-2. Nat Commun. 2023. PMID: 37301908 Free PMC article.
Mapping of a familial essential tremor gene, FET1, to chromosome 3q13.
Gulcher JR, Jónsson P, Kong A, Kristjánsson K, Frigge ML, Kárason A, Einarsdóttir IE, Stefánsson H, Einarsdóttir AS, Sigurthoardóttir S, Baldursson S, Björnsdóttir S, Hrafnkelsdóttir SM, Jakobsson F, Benedickz J, Stefánsson K. Gulcher JR, et al. Among authors: stefansson h, stefansson k. Nat Genet. 1997 Sep;17(1):84-7. doi: 10.1038/ng0997-84. Nat Genet. 1997. PMID: 9288103
Genetic factors contribute to the risk of developing endometriosis.
Stefansson H, Geirsson RT, Steinthorsdottir V, Jonsson H, Manolescu A, Kong A, Ingadottir G, Gulcher J, Stefansson K. Stefansson H, et al. Among authors: stefansson k. Hum Reprod. 2002 Mar;17(3):555-9. doi: 10.1093/humrep/17.3.555. Hum Reprod. 2002. PMID: 11870102
Neuregulin 1 and susceptibility to schizophrenia.
Stefansson H, Sigurdsson E, Steinthorsdottir V, Bjornsdottir S, Sigmundsson T, Ghosh S, Brynjolfsson J, Gunnarsdottir S, Ivarsson O, Chou TT, Hjaltason O, Birgisdottir B, Jonsson H, Gudnadottir VG, Gudmundsdottir E, Bjornsson A, Ingvarsson B, Ingason A, Sigfusson S, Hardardottir H, Harvey RP, Lai D, Zhou M, Brunner D, Mutel V, Gonzalo A, Lemke G, Sainz J, Johannesson G, Andresson T, Gudbjartsson D, Manolescu A, Frigge ML, Gurney ME, Kong A, Gulcher JR, Petursson H, Stefansson K. Stefansson H, et al. Among authors: stefansson k. Am J Hum Genet. 2002 Oct;71(4):877-92. doi: 10.1086/342734. Epub 2002 Jul 23. Am J Hum Genet. 2002. PMID: 12145742 Free PMC article.
Neuregulin 1 and schizophrenia.
Stefansson H, Steinthorsdottir V, Thorgeirsson TE, Gulcher JR, Stefansson K. Stefansson H, et al. Among authors: stefansson k. Ann Med. 2004;36(1):62-71. doi: 10.1080/07853890310017585. Ann Med. 2004. PMID: 15000348 Review.
Multiple novel transcription initiation sites for NRG1.
Steinthorsdottir V, Stefansson H, Ghosh S, Birgisdottir B, Bjornsdottir S, Fasquel AC, Olafsson O, Stefansson K, Gulcher JR. Steinthorsdottir V, et al. Among authors: stefansson h, stefansson k. Gene. 2004 Nov 10;342(1):97-105. doi: 10.1016/j.gene.2004.07.029. Gene. 2004. PMID: 15527969
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: stefansson k. Nat Genet. 2005 Feb;37(2):129-37. doi: 10.1038/ng1508. Epub 2005 Jan 16. Nat Genet. 2005. PMID: 15654335
Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes.
Grant SF, Thorleifsson G, Reynisdottir I, Benediktsson R, Manolescu A, Sainz J, Helgason A, Stefansson H, Emilsson V, Helgadottir A, Styrkarsdottir U, Magnusson KP, Walters GB, Palsdottir E, Jonsdottir T, Gudmundsdottir T, Gylfason A, Saemundsdottir J, Wilensky RL, Reilly MP, Rader DJ, Bagger Y, Christiansen C, Gudnason V, Sigurdsson G, Thorsteinsdottir U, Gulcher JR, Kong A, Stefansson K. Grant SF, et al. Among authors: stefansson h, stefansson k. Nat Genet. 2006 Mar;38(3):320-3. doi: 10.1038/ng1732. Epub 2006 Jan 15. Nat Genet. 2006. PMID: 16415884
Support for involvement of the AHI1 locus in schizophrenia.
Ingason A, Sigmundsson T, Steinberg S, Sigurdsson E, Haraldsson M, Magnusdottir BB, Frigge ML, Kong A, Gulcher J, Thorsteinsdottir U, Stefansson K, Petursson H, Stefansson H. Ingason A, et al. Among authors: stefansson h, stefansson k. Eur J Hum Genet. 2007 Sep;15(9):988-91. doi: 10.1038/sj.ejhg.5201848. Epub 2007 May 2. Eur J Hum Genet. 2007. PMID: 17473831 Free article.
A genetic risk factor for periodic limb movements in sleep.
Stefansson H, Rye DB, Hicks A, Petursson H, Ingason A, Thorgeirsson TE, Palsson S, Sigmundsson T, Sigurdsson AP, Eiriksdottir I, Soebech E, Bliwise D, Beck JM, Rosen A, Waddy S, Trotti LM, Iranzo A, Thambisetty M, Hardarson GA, Kristjansson K, Gudmundsson LJ, Thorsteinsdottir U, Kong A, Gulcher JR, Gudbjartsson D, Stefansson K. Stefansson H, et al. Among authors: stefansson k. N Engl J Med. 2007 Aug 16;357(7):639-47. doi: 10.1056/NEJMoa072743. Epub 2007 Jul 18. N Engl J Med. 2007. PMID: 17634447 Free article.
317 results