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Items: 1 to 20 of 605

1.

Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA.

Gudmundsson J, Sigurdsson JK, Stefansdottir L, Agnarsson BA, Isaksson HJ, Stefansson OA, Gudjonsson SA, Gudbjartsson DF, Masson G, Frigge ML, Stacey SN, Sulem P, Halldorsson GH, Tragante V, Holm H, Eyjolfsson GI, Sigurdardottir O, Olafsson I, Jonsson T, Jonsson E, Barkardottir RB, Hilmarsson R, Asselbergs FW, Geirsson G, Thorsteinsdottir U, Rafnar T, Thorleifsson G, Stefansson K.

Nat Commun. 2018 Nov 8;9(1):4568. doi: 10.1038/s41467-018-06920-9.

2.

Multiple transmissions of de novo mutations in families.

Jónsson H, Sulem P, Arnadottir GA, Pálsson G, Eggertsson HP, Kristmundsdottir S, Zink F, Kehr B, Hjorleifsson KE, Jensson BÖ, Jonsdottir I, Marelsson SE, Gudjonsson SA, Gylfason A, Jonasdottir A, Jonasdottir A, Stacey SN, Magnusson OT, Thorsteinsdottir U, Masson G, Kong A, Halldorsson BV, Helgason A, Gudbjartsson DF, Stefansson K.

Nat Genet. 2018 Nov 5. doi: 10.1038/s41588-018-0259-9. [Epub ahead of print]

PMID:
30397338
3.

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 Oct 29. doi: 10.1038/s41588-018-0247-0. [Epub ahead of print]

PMID:
30374069
4.

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.

5.

Variants in NKX2-5 and FLNC Cause Dilated Cardiomyopathy and Sudden Cardiac Death.

Sveinbjornsson G, Olafsdottir EF, Thorolfsdottir RB, Davidsson OB, Helgadottir A, Jonasdottir A, Jonasdottir A, Bjornsson E, Jensson BO, Arnadottir GA, Kristinsdottir H, Stephensen SS, Oskarsson G, Gudbjartsson T, Sigurdsson EL, Andersen K, Danielsen R, Arnar DO, Jonsdottir I, Thorsteinsdottir U, Sulem P, Thorgeirsson G, Gudbjartsson DF, Holm H, Stefansson K.

Circ Genom Precis Med. 2018 Aug;11(8):e002151. doi: 10.1161/CIRCGEN.117.002151.

PMID:
30354339
6.

Insights into imprinting from parent-of-origin phased methylomes and transcriptomes.

Zink F, Magnusdottir DN, Magnusson OT, Walker NJ, Morris TJ, Sigurdsson A, Halldorsson GH, Gudjonsson SA, Melsted P, Ingimundardottir H, Kristmundsdottir S, Alexandersson KF, Helgadottir A, Gudmundsson J, Rafnar T, Jonsdottir I, Holm H, Eyjolfsson GI, Sigurdardottir O, Olafsson I, Masson G, Gudbjartsson DF, Thorsteinsdottir U, Halldorsson BV, Stacey SN, Stefansson K.

Nat Genet. 2018 Nov;50(11):1542-1552. doi: 10.1038/s41588-018-0232-7. Epub 2018 Oct 22.

PMID:
30349119
7.

Identification of Lynch syndrome risk variants in the Romanian population.

Iordache PD, Mates D, Gunnarsson B, Eggertsson HP, Sulem P, Benonisdottir S, Csiki IE, Rascu S, Radavoi D, Ursu R, Staicu C, Calota V, Voinoiu A, Jinga M, Rosoga G, Danau R, Sima SC, Badescu D, Suciu N, Radoi V, Mates IN, Dobra M, Nicolae C, Kristjansdottir S, Jonasson JG, Manolescu A, Arnadottir G, Jensson B, Jonasdottir A, Sigurdsson A, le Roux L, Johannsdottir H, Rafnar T, Halldorsson BV, Jinga V, Stefansson K.

J Cell Mol Med. 2018 Dec;22(12):6068-6076. doi: 10.1111/jcmm.13881. Epub 2018 Oct 16.

8.

Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps.

Mahajan A, Taliun D, Thurner M, Robertson NR, Torres JM, Rayner NW, Payne AJ, Steinthorsdottir V, Scott RA, Grarup N, Cook JP, Schmidt EM, Wuttke M, Sarnowski C, Mägi R, Nano J, Gieger C, Trompet S, Lecoeur C, Preuss MH, Prins BP, Guo X, Bielak LF, Below JE, Bowden DW, Chambers JC, Kim YJ, Ng MCY, Petty LE, Sim X, Zhang W, Bennett AJ, Bork-Jensen J, Brummett CM, Canouil M, Ec Kardt KU, Fischer K, Kardia SLR, Kronenberg F, Läll K, Liu CT, Locke AE, Luan J, Ntalla I, Nylander V, Schönherr S, Schurmann C, Yengo L, Bottinger EP, Brandslund I, Christensen C, Dedoussis G, Florez JC, Ford I, Franco OH, Frayling TM, Giedraitis V, Hackinger S, Hattersley AT, Herder C, Ikram MA, Ingelsson M, Jørgensen ME, Jørgensen T, Kriebel J, Kuusisto J, Ligthart S, Lindgren CM, Linneberg A, Lyssenko V, Mamakou V, Meitinger T, Mohlke KL, Morris AD, Nadkarni G, Pankow JS, Peters A, Sattar N, Stančáková A, Strauch K, Taylor KD, Thorand B, Thorleifsson G, Thorsteinsdottir U, Tuomilehto J, Witte DR, Dupuis J, Peyser PA, Zeggini E, Loos RJF, Froguel P, Ingelsson E, Lind L, Groop L, Laakso M, Collins FS, Jukema JW, Palmer CNA, Grallert H, Metspalu A, Dehghan A, Köttgen A, Abecasis GR, Meigs JB, Rotter JI, Marchini J, Pedersen O, Hansen T, Langenberg C, Wareham NJ, Stefansson K, Gloyn AL, Morris AP, Boehnke M, McCarthy MI.

Nat Genet. 2018 Nov;50(11):1505-1513. doi: 10.1038/s41588-018-0241-6. Epub 2018 Oct 8.

PMID:
30297969
9.

Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia.

Sønderby IE, Gústafsson Ó, Doan NT, Hibar DP, Martin-Brevet S, Westlye LT, Jacquemont S, Djurovic S, Stefánsson H, Stefánsson K, Thompson PM, Andreassen OA; 16p11.2 European Consortium; for the ENIGMA-CNV working group.

Mol Psychiatry. 2018 Oct 3. doi: 10.1038/s41380-018-0118-1. [Epub ahead of print]

PMID:
30283035
10.

Coding variants in RPL3L and MYZAP increase risk of atrial fibrillation.

Thorolfsdottir RB, Sveinbjornsson G, Sulem P, Nielsen JB, Jonsson S, Halldorsson GH, Melsted P, Ivarsdottir EV, Davidsson OB, Kristjansson RP, Thorleifsson G, Helgadottir A, Gretarsdottir S, Norddahl G, Rajamani S, Torfason B, Valgardsson AS, Sverrisson JT, Tragante V, Holmen OL, Asselbergs FW, Roden DM, Darbar D, Pedersen TR, Sabatine MS, Willer CJ, Løchen ML, Halldorsson BV, Jonsdottir I, Hveem K, Arnar DO, Thorsteinsdottir U, Gudbjartsson DF, Holm H, Stefansson K.

Commun Biol. 2018 Jun 12;1:68. doi: 10.1038/s42003-018-0068-9. eCollection 2018.

11.

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.

12.

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.

13.

Author Correction: The rate of meiotic gene conversion varies by sex and age.

Halldorsson BV, Hardarson MT, Kehr B, Styrkarsdottir U, Gylfason A, Thorleifsson G, Zink F, Jonasdottir A, Jonasdottir A, Sulem P, Masson G, Thorsteinsdottir U, Helgason A, Kong A, Gudbjartsson DF, Stefansson K.

Nat Genet. 2018 Nov;50(11):1616. doi: 10.1038/s41588-018-0228-3.

PMID:
30237445
14.

Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma.

Went M, Sud A, Försti A, Halvarsson BM, Weinhold N, Kimber S, van Duin M, Thorleifsson G, Holroyd A, Johnson DC, Li N, Orlando G, Law PJ, Ali M, Chen B, Mitchell JS, Gudbjartsson DF, Kuiper R, Stephens OW, Bertsch U, Broderick P, Campo C, Bandapalli OR, Einsele H, Gregory WA, Gullberg U, Hillengass J, Hoffmann P, Jackson GH, Jöckel KH, Johnsson E, Kristinsson SY, Mellqvist UH, Nahi H, Easton D, Pharoah P, Dunning A, Peto J, Canzian F, Swerdlow A, Eeles RA, Kote-Jarai Z, Muir K, Pashayan N, Nickel J, Nöthen MM, Rafnar T, Ross FM, da Silva Filho MI, Thomsen H, Turesson I, Vangsted A, Andersen NF, Waage A, Walker BA, Wihlborg AK, Broyl A, Davies FE, Thorsteinsdottir U, Langer C, Hansson M, Goldschmidt H, Kaiser M, Sonneveld P, Stefansson K, Morgan GJ, Hemminki K, Nilsson B, Houlston RS; PRACTICAL consortium.

Nat Commun. 2018 Sep 13;9(1):3707. doi: 10.1038/s41467-018-04989-w.

15.

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.

16.

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.

Nat Commun. 2018 Aug 27;9(1):3456. doi: 10.1038/s41467-018-05595-6.

17.

Author Correction: Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis.

Waage J, Standl M, Curtin JA, Jessen LE, Thorsen J, Tian C, Schoettler N; 23andMe Research Team; AAGC collaborators, Flores C, Abdellaoui A, Ahluwalia TS, Alves AC, Amaral AFS, Antó JM, Arnold A, Barreto-Luis A, Baurecht H, van Beijsterveldt CEM, Bleecker ER, Bonàs-Guarch S, Boomsma DI, Brix S, Bunyavanich S, Burchard EG, Chen Z, Curjuric I, Custovic A, den Dekker HT, Dharmage SC, Dmitrieva J, Duijts L, Ege MJ, Gauderman WJ, Georges M, Gieger C, Gilliland F, Granell R, Gui H, Hansen T, Heinrich J, Henderson J, Hernandez-Pacheco N, Holt P, Imboden M, Jaddoe VWV, Jarvelin MR, Jarvis DL, Jensen KK, Jónsdóttir I, Kabesch M, Kaprio J, Kumar A, Lee YA, Levin AM, Li X, Lorenzo-Diaz F, Melén E, Mercader JM, Meyers DA, Myers R, Nicolae DL, Nohr EA, Palviainen T, Paternoster L, Pennell CE, Pershagen G, Pino-Yanes M, Probst-Hensch NM, Rüschendorf F, Simpson A, Stefansson K, Sunyer J, Sveinbjornsson G, Thiering E, Thompson PJ, Torrent M, Torrents D, Tung JY, Wang CA, Weidinger S, Weiss S, Willemsen G, Williams LK, Ober C, Hinds DA, Ferreira MA, Bisgaard H, Strachan DP, Bønnelykke K.

Nat Genet. 2018 Sep;50(9):1343. doi: 10.1038/s41588-018-0197-6.

PMID:
30116036
18.

Relatedness disequilibrium regression estimates heritability without environmental bias.

Young AI, Frigge ML, Gudbjartsson DF, Thorleifsson G, Bjornsdottir G, Sulem P, Masson G, Thorsteinsdottir U, Stefansson K, Kong A.

Nat Genet. 2018 Sep;50(9):1304-1310. doi: 10.1038/s41588-018-0178-9. Epub 2018 Aug 13.

PMID:
30104764
19.

Author Correction: Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition.

Small KS, Todorčević M, Civelek M, El-Sayed Moustafa JS, Wang X, Simon MM, Fernandez-Tajes J, Mahajan A, Horikoshi M, Hugill A, Glastonbury CA, Quaye L, Neville MJ, Sethi S, Yon M, Pan C, Che N, Vinuela A, Tsai PC, Nag A, Buil A, Thorleifsson G, Raghavan A, Ding Q, Morris AP, Bell JT, Thorsteinsdottir U, Stefansson K, Laakso M, Dahlman I, Arner P, Gloyn AL, Musunuru K, Lusis AJ, Cox RD, Karpe F, McCarthy MI.

Nat Genet. 2018 Sep;50(9):1342. doi: 10.1038/s41588-018-0180-2.

PMID:
30087441
20.

Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.

Nielsen JB, Thorolfsdottir RB, Fritsche LG, Zhou W, Skov MW, Graham SE, Herron TJ, McCarthy S, Schmidt EM, Sveinbjornsson G, Surakka I, Mathis MR, Yamazaki M, Crawford RD, Gabrielsen ME, Skogholt AH, Holmen OL, Lin M, Wolford BN, Dey R, Dalen H, Sulem P, Chung JH, Backman JD, Arnar DO, Thorsteinsdottir U, Baras A, O'Dushlaine C, Holst AG, Wen X, Hornsby W, Dewey FE, Boehnke M, Kheterpal S, Mukherjee B, Lee S, Kang HM, Holm H, Kitzman J, Shavit JA, Jalife J, Brummett CM, Teslovich TM, Carey DJ, Gudbjartsson DF, Stefansson K, Abecasis GR, Hveem K, Willer CJ.

Nat Genet. 2018 Sep;50(9):1234-1239. doi: 10.1038/s41588-018-0171-3. Epub 2018 Jul 30.

PMID:
30061737

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