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Items: 35

1.

Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density.

Ivarsdottir EV, Benonisdottir S, Thorleifsson G, Sulem P, Oddsson A, Styrkarsdottir U, Kristmundsdottir S, Arnadottir GA, Thorgeirsson G, Jonsdottir I, Zoega GM, Thorsteinsdottir U, Gudbjartsson DF, Jonasson F, Holm H, Stefansson K.

Nat Commun. 2019 Mar 20;10(1):1284. doi: 10.1038/s41467-019-09304-9.

2.

Characterizing mutagenic effects of recombination through a sequence-level genetic map.

Halldorsson BV, Palsson G, Stefansson OA, Jonsson H, Hardarson MT, Eggertsson HP, Gunnarsson B, Oddsson A, Halldorsson GH, Zink F, Gudjonsson SA, Frigge ML, Thorleifsson G, Sigurdsson A, Stacey SN, Sulem P, Masson G, Helgason A, Gudbjartsson DF, Thorsteinsdottir U, Stefansson K.

Science. 2019 Jan 25;363(6425). pii: eaau1043. doi: 10.1126/science.aau1043. Erratum in: Science. 2019 Feb 8;363(6427):.

PMID:
30679340
3.

A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis.

Kristjansson RP, Benonisdottir S, Davidsson OB, Oddsson A, Tragante V, Sigurdsson JK, Stefansdottir L, Jonsson S, Jensson BO, Arthur JG, Arnadottir GA, Sulem G, Halldorsson BV, Gunnarsson B, Halldorsson GH, Stefansson OA, Oskarsson GR, Deaton AM, Olafsson I, Eyjolfsson GI, Sigurdardottir O, Onundarson PT, Gislason D, Gislason T, Ludviksson BR, Ludviksdottir D, Olafsdottir TA, Rafnar T, Masson G, Zink F, Bjornsdottir G, Magnusson OT, Bjornsdottir US, Thorleifsson G, Norddahl GL, Gudbjartsson DF, Thorsteinsdottir U, Jonsdottir I, Sulem P, Stefansson K.

Nat Genet. 2019 Feb;51(2):267-276. doi: 10.1038/s41588-018-0314-6. Epub 2019 Jan 14.

PMID:
30643255
4.

Genetics of common complex kidney stone disease: insights from genome-wide association studies.

Palsson R, Indridason OS, Edvardsson VO, Oddsson A.

Urolithiasis. 2019 Feb;47(1):11-21. doi: 10.1007/s00240-018-1094-2. Epub 2018 Dec 6. Review.

PMID:
30523390
5.

Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.

Ferkingstad E, Oddsson A, Gretarsdottir S, Benonisdottir S, Thorleifsson G, Deaton AM, Jonsson S, Stefansson OA, Norddahl GL, Zink F, Arnadottir GA, Gunnarsson B, Halldorsson GH, Helgadottir A, Jensson BO, Kristjansson RP, Sveinbjornsson G, Sverrisson DA, Masson G, Olafsson I, Eyjolfsson GI, Sigurdardottir O, Holm H, Jonsdottir I, Olafsson S, Steingrimsdottir T, Rafnar T, Bjornsson ES, Thorsteinsdottir U, Gudbjartsson DF, Sulem P, Stefansson K.

Nat Commun. 2018 Nov 30;9(1):5101. doi: 10.1038/s41467-018-07460-y.

6.

Sequence variants associating with urinary biomarkers.

Benonisdottir S, Kristjansson RP, Oddsson A, Steinthorsdottir V, Mikaelsdottir E, Kehr B, Jensson BO, Arnadottir GA, Sulem G, Sveinbjornsson G, Kristmundsdottir S, Ivarsdottir EV, Tragante V, Gunnarsson B, Runolfsdottir HL, Arthur JG, Deaton AM, Eyjolfsson GI, Davidsson OB, Asselbergs FW, Hreidarsson AB, Rafnar T, Thorleifsson G, Edvardsson V, Sigurdsson G, Helgadottir A, Halldorsson BV, Masson G, Holm H, Onundarson PT, Indridason OS, Benediktsson R, Palsson R, Gudbjartsson DF, Olafsson I, Thorsteinsdottir U, Sulem P, Stefansson K.

Hum Mol Genet. 2019 Apr 1;28(7):1199-1211. doi: 10.1093/hmg/ddy409.

7.

Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis.

Styrkarsdottir U, Lund SH, Thorleifsson G, Zink F, Stefansson OA, Sigurdsson JK, Juliusson K, Bjarnadottir K, Sigurbjornsdottir S, Jonsson S, Norland K, Stefansdottir L, Sigurdsson A, Sveinbjornsson G, Oddsson A, Bjornsdottir G, Gudmundsson RL, Halldorsson GH, Rafnar T, Jonsdottir I, Steingrimsson E, Norddahl GL, Masson G, Sulem P, Jonsson H, Ingvarsson T, Gudbjartsson DF, Thorsteinsdottir U, Stefansson K.

Nat Genet. 2018 Dec;50(12):1681-1687. doi: 10.1038/s41588-018-0247-0. Epub 2018 Oct 29.

PMID:
30374069
8.

A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease.

Arnadottir GA, Norddahl GL, Gudmundsdottir S, Agustsdottir AB, Sigurdsson S, Jensson BO, Bjarnadottir K, Theodors F, Benonisdottir S, Ivarsdottir EV, Oddsson A, Kristjansson RP, Sulem G, Alexandersson KF, Juliusdottir T, Gudmundsson KR, Saemundsdottir J, Jonasdottir A, Jonasdottir A, Sigurdsson A, Manzanillo P, Gudjonsson SA, Thorisson GA, Magnusson OT, Masson G, Orvar KB, Holm H, Bjornsson S, Arngrimsson R, Gudbjartsson DF, Thorsteinsdottir U, Jonsdottir I, Haraldsson A, Sulem P, Stefansson K.

Nat Commun. 2018 Oct 25;9(1):4447. doi: 10.1038/s41467-018-06964-x.

9.

A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin.

Oskarsson GR, Kristjansson RP, Lee AL, Sveinbjornsson G, Magnusson MK, Ivarsdottir EV, Benonisdottir S, Oddsson A, Davidsson OB, Saemundsdottir J, Halldorsson GH, Arthur J, Arnadottir GA, Masson G, Jensson BO, Holm H, Olafsson I, Onundarson PT, Gudbjartsson DF, Norddahl GL, Thorsteinsdottir U, Sulem P, Stefansson K.

Commun Biol. 2018 May 17;1:49. doi: 10.1038/s42003-018-0053-3. eCollection 2018.

10.

A rare missense variant in NR1H4 associates with lower cholesterol levels.

Deaton AM, Sulem P, Nioi P, Benonisdottir S, Ward LD, Davidsson OB, Lao S, Helgadottir A, Fan F, Jensson BO, Norddahl GL, Jonasdottir A, Jonasdottir A, Sigurdsson A, Kristjansson RP, Oddsson A, Arnadottir GA, Jonsson H, Olafsson I, Eyjolfsson GI, Sigurdardottir O, Bjornsson ES, Olafsson S, Steingrimsdottir T, Rafnar T, Thorgeirsson G, Masson G, Thorleifsson G, Gudbjartsson DF, Holm H, Thorsteinsdottir U, Stefansson K.

Commun Biol. 2018 Feb 8;1:14. doi: 10.1038/s42003-018-0015-9. eCollection 2018.

11.

Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits.

Rafnar T, Gunnarsson B, Stefansson OA, Sulem P, Ingason A, Frigge ML, Stefansdottir L, Sigurdsson JK, Tragante V, Steinthorsdottir V, Styrkarsdottir U, Stacey SN, Gudmundsson J, Arnadottir GA, Oddsson A, Zink F, Halldorsson G, Sveinbjornsson G, Kristjansson RP, Davidsson OB, Salvarsdottir A, Thoroddsen A, Helgadottir EA, Kristjansdottir K, Ingthorsson O, Gudmundsson V, Geirsson RT, Arnadottir R, Gudbjartsson DF, Masson G, Asselbergs FW, Jonasson JG, Olafsson K, Thorsteinsdottir U, Halldorsson BV, Thorleifsson G, Stefansson K.

Nat Commun. 2018 Sep 7;9(1):3636. doi: 10.1038/s41467-018-05428-6.

12.

The nature of nurture: Effects of parental genotypes.

Kong A, Thorleifsson G, Frigge ML, Vilhjalmsson BJ, Young AI, Thorgeirsson TE, Benonisdottir S, Oddsson A, Halldorsson BV, Masson G, Gudbjartsson DF, Helgason A, Bjornsdottir G, Thorsteinsdottir U, Stefansson K.

Science. 2018 Jan 26;359(6374):424-428. doi: 10.1126/science.aan6877.

PMID:
29371463
13.

Rare and Common Variants Conferring Risk of Tooth Agenesis.

Jonsson L, Magnusson TE, Thordarson A, Jonsson T, Geller F, Feenstra B, Melbye M, Nohr EA, Vucic S, Dhamo B, Rivadeneira F, Ongkosuwito EM, Wolvius EB, Leslie EJ, Marazita ML, Howe BJ, Moreno Uribe LM, Alonso I, Santos M, Pinho T, Jonsson R, Audolfsson G, Gudmundsson L, Nawaz MS, Olafsson S, Gustafsson O, Ingason A, Unnsteinsdottir U, Bjornsdottir G, Walters GB, Zervas M, Oddsson A, Gudbjartsson DF, Steinberg S, Stefansson H, Stefansson K.

J Dent Res. 2018 May;97(5):515-522. doi: 10.1177/0022034517750109. Epub 2018 Jan 24.

14.

COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA.

Jensson BO, Hansdottir S, Arnadottir GA, Sulem G, Kristjansson RP, Oddsson A, Benonisdottir S, Jonsson H, Helgason A, Saemundsdottir J, Magnusson OT, Masson G, Thorisson GA, Jonasdottir A, Jonasdottir A, Sigurdsson A, Jonsdottir I, Petursdottir V, Kristinsson JR, Gudbjartsson DF, Thorsteinsdottir U, Arngrimsson R, Sulem P, Gudmundsson G, Stefansson K.

BMC Med Genet. 2017 Nov 14;18(1):129. doi: 10.1186/s12881-017-0490-8.

15.

Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.

Arnadottir GA, Jensson BO, Marelsson SE, Sulem G, Oddsson A, Kristjansson RP, Benonisdottir S, Gudjonsson SA, Masson G, Thorisson GA, Saemundsdottir J, Magnusson OT, Jonasdottir A, Jonasdottir A, Sigurdsson A, Gudbjartsson DF, Thorsteinsdottir U, Arngrimsson R, Sulem P, Stefansson K.

BMC Med Genet. 2017 Oct 2;18(1):103. doi: 10.1186/s12881-017-0466-8.

16.

Identification of sequence variants influencing immunoglobulin levels.

Jonsson S, Sveinbjornsson G, de Lapuente Portilla AL, Swaminathan B, Plomp R, Dekkers G, Ajore R, Ali M, Bentlage AEH, Elmér E, Eyjolfsson GI, Gudjonsson SA, Gullberg U, Gylfason A, Halldorsson BV, Hansson M, Holm H, Johansson Å, Johnsson E, Jonasdottir A, Ludviksson BR, Oddsson A, Olafsson I, Olafsson S, Sigurdardottir O, Sigurdsson A, Stefansdottir L, Masson G, Sulem P, Wuhrer M, Wihlborg AK, Thorleifsson G, Gudbjartsson DF, Thorsteinsdottir U, Vidarsson G, Jonsdottir I, Nilsson B, Stefansson K.

Nat Genet. 2017 Aug;49(8):1182-1191. doi: 10.1038/ng.3897. Epub 2017 Jun 19.

PMID:
28628107
17.

Sequence variant at 4q25 near PITX2 associates with appendicitis.

Kristjansson RP, Benonisdottir S, Oddsson A, Galesloot TE, Thorleifsson G, Aben KK, Davidsson OB, Jonsson S, Arnadottir GA, Jensson BO, Walters GB, Sigurdsson JK, Sigurdsson S, Holm H, Arnar DO, Thorgeirsson G, Alexiusdottir K, Jonsdottir I, Thorsteinsdottir U, Kiemeney LA, Jonsson T, Gudbjartsson DF, Rafnar T, Sulem P, Stefansson K.

Sci Rep. 2017 Jun 8;7(1):3119. doi: 10.1038/s41598-017-03353-0.

18.

A rare splice donor mutation in the haptoglobin gene associates with blood lipid levels and coronary artery disease.

Bjornsson E, Helgason H, Halldorsson G, Helgadottir A, Gylfason A, Kehr B, Jonasdottir A, Jonasdottir A, Sigurdsson A, Oddsson A, Thorleifsson G, Magnusson OT, Gretarsdottir S, Zink F, Kristjansson RP, Asgeirsdottir M, Swinkels DW, Kiemeney LA, Eyjolfsson GI, Sigurdardottir O, Masson G, Olafsson I, Thorgeirsson G, Holm H, Thorsteinsdottir U, Gudbjartsson DF, Sulem P, Stefansson K.

Hum Mol Genet. 2017 Jun 15;26(12):2364-2376. doi: 10.1093/hmg/ddx123.

PMID:
28398513
19.

Sequence variant at 8q24.21 associates with sciatica caused by lumbar disc herniation.

Bjornsdottir G, Benonisdottir S, Sveinbjornsson G, Styrkarsdottir U, Thorleifsson G, Walters GB, Bjornsson A, Olafsson IH, Ulfarsson E, Vikingsson A, Hansdottir R, Karlsson KO, Rafnar T, Jonsdottir I, Frigge ML, Kong A, Oddsson A, Masson G, Magnusson OT, Gudbjartsson T, Stefansson H, Sulem P, Gudbjartsson D, Thorsteinsdottir U, Thorgeirsson TE, Stefansson K.

Nat Commun. 2017 Feb 22;8:14265. doi: 10.1038/ncomms14265.

20.

Epigenetic and genetic components of height regulation.

Benonisdottir S, Oddsson A, Helgason A, Kristjansson RP, Sveinbjornsson G, Oskarsdottir A, Thorleifsson G, Davidsson OB, Arnadottir GA, Sulem G, Jensson BO, Holm H, Alexandersson KF, Tryggvadottir L, Walters GB, Gudjonsson SA, Ward LD, Sigurdsson JK, Iordache PD, Frigge ML, Rafnar T, Kong A, Masson G, Helgason H, Thorsteinsdottir U, Gudbjartsson DF, Sulem P, Stefansson K.

Nat Commun. 2016 Nov 16;7:13490. doi: 10.1038/ncomms13490.

21.

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.

Eur Heart J. 2017 Jan 1;38(1):27-34. doi: 10.1093/eurheartj/ehw379. Epub 2016 Oct 14.

PMID:
27742809
22.

Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease.

Helgadottir A, Gretarsdottir S, Thorleifsson G, Hjartarson E, Sigurdsson A, Magnusdottir A, Jonasdottir A, Kristjansson H, Sulem P, Oddsson A, Sveinbjornsson G, Steinthorsdottir V, Rafnar T, Masson G, Jonsdottir I, Olafsson I, Eyjolfsson GI, Sigurdardottir O, Daneshpour MS, Khalili D, Azizi F, Swinkels DW, Kiemeney L, Quyyumi AA, Levey AI, Patel RS, Hayek SS, Gudmundsdottir IJ, Thorgeirsson G, Thorsteinsdottir U, Gudbjartsson DF, Holm H, Stefansson K.

Nat Genet. 2016 Jun;48(6):634-9. doi: 10.1038/ng.3561. Epub 2016 May 2.

PMID:
27135400
23.

Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase.

Kristjansson RP, Oddsson A, Helgason H, Sveinbjornsson G, Arnadottir GA, Jensson BO, Jonasdottir A, Jonasdottir A, Bragi Walters G, Sulem G, Oskarsdottir A, Benonisdottir S, Davidsson OB, Masson G, Magnusson OT, Holm H, Sigurdardottir O, Jonsdottir I, Eyjolfsson GI, Olafsson I, Gudbjartsson DF, Thorsteinsdottir U, Sulem P, Stefansson K.

Nat Commun. 2016 Feb 3;7:10572. doi: 10.1038/ncomms10572.

24.

Knockdown of Tmem234 in zebrafish results in proteinuria.

Rodriguez PQ, Oddsson A, Ebarasi L, He B, Hultenby K, Wernerson A, Betsholtz C, Tryggvason K, Patrakka J.

Am J Physiol Renal Physiol. 2015 Dec 1;309(11):F955-66. doi: 10.1152/ajprenal.00525.2014. Epub 2015 Sep 16.

25.

A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease.

Gretarsdottir S, Helgason H, Helgadottir A, Sigurdsson A, Thorleifsson G, Magnusdottir A, Oddsson A, Steinthorsdottir V, Rafnar T, de Graaf J, Daneshpour MS, Hedayati M, Azizi F, Grarup N, Jørgensen T, Vestergaard H, Hansen T, Eyjolfsson G, Sigurdardottir O, Olafsson I, Kiemeney LA, Pedersen O, Sulem P, Thorgeirsson G, Gudbjartsson DF, Holm H, Thorsteinsdottir U, Stefansson K.

PLoS Genet. 2015 Sep 1;11(9):e1005379. doi: 10.1371/journal.pgen.1005379. eCollection 2015 Sep.

26.

Common and rare variants associated with kidney stones and biochemical traits.

Oddsson A, Sulem P, Helgason H, Edvardsson VO, Thorleifsson G, Sveinbjörnsson G, Haraldsdottir E, Eyjolfsson GI, Sigurdardottir O, Olafsson I, Masson G, Holm H, Gudbjartsson DF, Thorsteinsdottir U, Indridason OS, Palsson R, Stefansson K.

Nat Commun. 2015 Aug 14;6:7975. doi: 10.1038/ncomms8975.

27.

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.

Nat Genet. 2015 Aug;47(8):906-10. doi: 10.1038/ng.3342. Epub 2015 Jun 22.

PMID:
26098866
28.

Survival in patients with familial and sporadic myeloproliferative neoplasms.

Hultcrantz M, Lund SH, Landgren O, Samuelsson J, Goldin LR, Oddsson A, Björkholm M, Kristinsson SY.

Blood. 2015 Jun 4;125(23):3665-6. doi: 10.1182/blood-2015-04-639039. No abstract available.

29.

The germline sequence variant rs2736100_C in TERT associates with myeloproliferative neoplasms.

Oddsson A, Kristinsson SY, Helgason H, Gudbjartsson DF, Masson G, Sigurdsson A, Jonasdottir A, Jonasdottir A, Steingrimsdottir H, Vidarsson B, Reykdal S, Eyjolfsson GI, Olafsson I, Onundarson PT, Runarsson G, Sigurdardottir O, Kong A, Rafnar T, Sulem P, Thorsteinsdottir U, Stefansson K.

Leukemia. 2014 Jun;28(6):1371-4. doi: 10.1038/leu.2014.48. Epub 2014 Jan 30. No abstract available.

30.

Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits.

Styrkarsdottir U, Thorleifsson G, Sulem P, Gudbjartsson DF, Sigurdsson A, Jonasdottir A, Jonasdottir A, Oddsson A, Helgason A, Magnusson OT, Walters GB, Frigge ML, Helgadottir HT, Johannsdottir H, Bergsteinsdottir K, Ogmundsdottir MH, Center JR, Nguyen TV, Eisman JA, Christiansen C, Steingrimsson E, Jonasson JG, Tryggvadottir L, Eyjolfsson GI, Theodors A, Jonsson T, Ingvarsson T, Olafsson I, Rafnar T, Kong A, Sigurdsson G, Masson G, Thorsteinsdottir U, Stefansson K.

Nature. 2013 May 23;497(7450):517-20. doi: 10.1038/nature12124. Epub 2013 May 5.

PMID:
23644456
31.

Glcci1 deficiency leads to proteinuria.

Nishibori Y, Katayama K, Parikka M, Oddsson A, Nukui M, Hultenby K, Wernerson A, He B, Ebarasi L, Raschperger E, Norlin J, Uhlén M, Patrakka J, Betsholtz C, Tryggvason K.

J Am Soc Nephrol. 2011 Nov;22(11):2037-46. doi: 10.1681/ASN.2010111147. Epub 2011 Sep 23.

32.

Zebrafish: a model system for the study of vertebrate renal development, function, and pathophysiology.

Ebarasi L, Oddsson A, Hultenby K, Betsholtz C, Tryggvason K.

Curr Opin Nephrol Hypertens. 2011 Jul;20(4):416-24. doi: 10.1097/MNH.0b013e3283477797. Review.

PMID:
21519251
33.

Glomerulus proteome analysis with two-dimensional gel electrophoresis and mass spectrometry.

Tryggvason S, Nukui M, Oddsson A, Tryggvason K, Jörnvall H.

Cell Mol Life Sci. 2007 Dec;64(24):3317-35.

PMID:
18030416
34.

Expression and subcellular distribution of novel glomerulus-associated proteins dendrin, ehd3, sh2d4a, plekhh2, and 2310066E14Rik.

Patrakka J, Xiao Z, Nukui M, Takemoto M, He L, Oddsson A, Perisic L, Kaukinen A, Szigyarto CA, Uhlén M, Jalanko H, Betsholtz C, Tryggvason K.

J Am Soc Nephrol. 2007 Mar;18(3):689-97. Epub 2007 Jan 24.

35.

[Responses to traumatic events--the situation in Iceland today].

Oddsson A.

Laeknabladid. 2005 Feb;91(2):149-50. Icelandic. No abstract available.

PMID:
16155310

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