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Page 1
A frameshift deletion in the sarcomere gene MYL4 causes early-onset familial atrial fibrillation.
Gudbjartsson DF, Holm H, Sulem P, Masson G, Oddsson A, Magnusson OT, Saemundsdottir J, Helgadottir HT, Helgason H, Johannsdottir H, Gretarsdottir S, Gudjonsson SA, Njølstad I, Løchen ML, Baum L, Ma RC, Sigfusson G, Kong A, Thorgeirsson G, Sverrisson JT, Thorsteinsdottir U, Stefansson K, Arnar DO. Gudbjartsson DF, et al. Among authors: johannsdottir h. Eur Heart J. 2017 Jan 1;38(1):27-34. doi: 10.1093/eurheartj/ehw379. Epub 2016 Oct 14. Eur Heart J. 2017. PMID: 27742809
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: johannsdottir h. Nat Genet. 2015 May;47(5):435-44. doi: 10.1038/ng.3247. Epub 2015 Mar 25. Nat Genet. 2015. PMID: 25807286
Discovery of common variants associated with low TSH levels and thyroid cancer risk.
Gudmundsson J, Sulem P, Gudbjartsson DF, Jonasson JG, Masson G, He H, Jonasdottir A, Sigurdsson A, Stacey SN, Johannsdottir H, Helgadottir HT, Li W, Nagy R, Ringel MD, Kloos RT, de Visser MC, Plantinga TS, den Heijer M, Aguillo E, Panadero A, Prats E, Garcia-Castaño A, De Juan A, Rivera F, Walters GB, Bjarnason H, Tryggvadottir L, Eyjolfsson GI, Bjornsdottir US, Holm H, Olafsson I, Kristjansson K, Kristvinsson H, Magnusson OT, Thorleifsson G, Gulcher JR, Kong A, Kiemeney LA, Jonsson T, Hjartarson H, Mayordomo JI, Netea-Maier RT, de la Chapelle A, Hrafnkelsson J, Thorsteinsdottir U, Rafnar T, Stefansson K. Gudmundsson J, et al. Among authors: johannsdottir h. Nat Genet. 2012 Jan 22;44(3):319-22. doi: 10.1038/ng.1046. Nat Genet. 2012. PMID: 22267200 Free PMC article.
A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer.
Gudmundsson J, Sulem P, Gudbjartsson DF, Masson G, Agnarsson BA, Benediktsdottir KR, Sigurdsson A, Magnusson OT, Gudjonsson SA, Magnusdottir DN, Johannsdottir H, Helgadottir HT, Stacey SN, Jonasdottir A, Olafsdottir SB, Thorleifsson G, Jonasson JG, Tryggvadottir L, Navarrete S, Fuertes F, Helfand BT, Hu Q, Csiki IE, Mates IN, Jinga V, Aben KK, van Oort IM, Vermeulen SH, Donovan JL, Hamdy FC, Ng CF, Chiu PK, Lau KM, Ng MC, Gulcher JR, Kong A, Catalona WJ, Mayordomo JI, Einarsson GV, Barkardottir RB, Jonsson E, Mates D, Neal DE, Kiemeney LA, Thorsteinsdottir U, Rafnar T, Stefansson K. Gudmundsson J, et al. Among authors: johannsdottir h. Nat Genet. 2012 Dec;44(12):1326-9. doi: 10.1038/ng.2437. Epub 2012 Oct 28. Nat Genet. 2012. PMID: 23104005 Free PMC article.
A common variant at 8q24.21 is associated with renal cell cancer.
Gudmundsson J, Sulem P, Gudbjartsson DF, Masson G, Petursdottir V, Hardarson S, Gudjonsson SA, Johannsdottir H, Helgadottir HT, Stacey SN, Magnusson OT, Helgason H, Panadero A, van der Zanden LF, Aben KK, Vermeulen SH, Oosterwijk E, Kong A, Mayordomo JI, Sverrisdottir A, Jonsson E, Gudbjartsson T, Einarsson GV, Kiemeney LA, Thorsteinsdottir U, Rafnar T, Stefansson K. Gudmundsson J, et al. Among authors: johannsdottir h. Nat Commun. 2013;4:2776. doi: 10.1038/ncomms3776. Nat Commun. 2013. PMID: 24220699 Free article.
Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
Stacey SN, Sulem P, Gudbjartsson DF, Jonasdottir A, Thorleifsson G, Gudjonsson SA, Masson G, Gudmundsson J, Sigurgeirsson B, Benediktsdottir KR, Thorisdottir K, Ragnarsson R, Fuentelsaz V, Corredera C, Grasa M, Planelles D, Sanmartin O, Rudnai P, Gurzau E, Koppova K, Hemminki K, Nexø BA, Tjønneland A, Overvad K, Johannsdottir H, Helgadottir HT, Thorsteinsdottir U, Kong A, Vogel U, Kumar R, Nagore E, Mayordomo JI, Rafnar T, Olafsson JH, Stefansson K. Stacey SN, et al. Among authors: johannsdottir h. Hum Mol Genet. 2014 Jun 1;23(11):3045-53. doi: 10.1093/hmg/ddt671. Epub 2014 Jan 8. Hum Mol Genet. 2014. PMID: 24403052 Free PMC article.
Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes.
Steinthorsdottir V, Thorleifsson G, Sulem P, Helgason H, Grarup N, Sigurdsson A, Helgadottir HT, Johannsdottir H, Magnusson OT, Gudjonsson SA, Justesen JM, Harder MN, Jørgensen ME, Christensen C, Brandslund I, Sandbæk A, Lauritzen T, Vestergaard H, Linneberg A, Jørgensen T, Hansen T, Daneshpour MS, Fallah MS, Hreidarsson AB, Sigurdsson G, Azizi F, Benediktsson R, Masson G, Helgason A, Kong A, Gudbjartsson DF, Pedersen O, Thorsteinsdottir U, Stefansson K. Steinthorsdottir V, et al. Among authors: johannsdottir h. Nat Genet. 2014 Mar;46(3):294-8. doi: 10.1038/ng.2882. Epub 2014 Jan 26. Nat Genet. 2014. PMID: 24464100
Loss-of-function variants in ATM confer risk of gastric cancer.
Helgason H, Rafnar T, Olafsdottir HS, Jonasson JG, Sigurdsson A, Stacey SN, Jonasdottir A, Tryggvadottir L, Alexiusdottir K, Haraldsson A, le Roux L, Gudmundsson J, Johannsdottir H, Oddsson A, Gylfason A, Magnusson OT, Masson G, Jonsson T, Skuladottir H, Gudbjartsson DF, Thorsteinsdottir U, Sulem P, Stefansson K. Helgason H, et al. Among authors: johannsdottir h. Nat Genet. 2015 Aug;47(8):906-10. doi: 10.1038/ng.3342. Epub 2015 Jun 22. Nat Genet. 2015. PMID: 26098866
A germline variant in the TP53 polyadenylation signal confers cancer susceptibility.
Stacey SN, Sulem P, Jonasdottir A, Masson G, Gudmundsson J, Gudbjartsson DF, Magnusson OT, Gudjonsson SA, Sigurgeirsson B, Thorisdottir K, Ragnarsson R, Benediktsdottir KR, Nexø BA, Tjønneland A, Overvad K, Rudnai P, Gurzau E, Koppova K, Hemminki K, Corredera C, Fuentelsaz V, Grasa P, Navarrete S, Fuertes F, García-Prats MD, Sanambrosio E, Panadero A, De Juan A, Garcia A, Rivera F, Planelles D, Soriano V, Requena C, Aben KK, van Rossum MM, Cremers RG, van Oort IM, van Spronsen DJ, Schalken JA, Peters WH, Helfand BT, Donovan JL, Hamdy FC, Badescu D, Codreanu O, Jinga M, Csiki IE, Constantinescu V, Badea P, Mates IN, Dinu DE, Constantin A, Mates D, Kristjansdottir S, Agnarsson BA, Jonsson E, Barkardottir RB, Einarsson GV, Sigurdsson F, Moller PH, Stefansson T, Valdimarsson T, Johannsson OT, Sigurdsson H, Jonsson T, Jonasson JG, Tryggvadottir L, Rice T, Hansen HM, Xiao Y, Lachance DH, O Neill BP, Kosel ML, Decker PA, Thorleifsson G, Johannsdottir H, Helgadottir HT, Sigurdsson A, Steinthorsdottir V, Lindblom A; Swedish Low-risk Colorectal Cancer Study Group; Sandler RS, Keku TO, Banasik K, Jørgensen T, Witte DR, Hansen T, Pedersen O, Jinga V, Neal DE, Catalona WJ, Wrensch M, Wi… See abstract for full author list ➔ Stacey SN, et al. Among authors: johannsdottir h. Nat Genet. 2011 Sep 25;43(11):1098-103. doi: 10.1038/ng.926. Nat Genet. 2011. PMID: 21946351 Free PMC article.
Mutations in BRIP1 confer high risk of ovarian cancer.
Rafnar T, Gudbjartsson DF, Sulem P, Jonasdottir A, Sigurdsson A, Jonasdottir A, Besenbacher S, Lundin P, Stacey SN, Gudmundsson J, Magnusson OT, le Roux L, Orlygsdottir G, Helgadottir HT, Johannsdottir H, Gylfason A, Tryggvadottir L, Jonasson JG, de Juan A, Ortega E, Ramon-Cajal JM, García-Prats MD, Mayordomo C, Panadero A, Rivera F, Aben KK, van Altena AM, Massuger LF, Aavikko M, Kujala PM, Staff S, Aaltonen LA, Olafsdottir K, Bjornsson J, Kong A, Salvarsdottir A, Saemundsson H, Olafsson K, Benediktsdottir KR, Gulcher J, Masson G, Kiemeney LA, Mayordomo JI, Thorsteinsdottir U, Stefansson K. Rafnar T, et al. Among authors: johannsdottir h. Nat Genet. 2011 Oct 2;43(11):1104-7. doi: 10.1038/ng.955. Nat Genet. 2011. PMID: 21964575
36 results