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Items: 1 to 20 of 33

1.

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
2.

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
3.

Parental influence on human germline de novo mutations in 1,548 trios from Iceland.

Jónsson H, Sulem P, Kehr B, Kristmundsdottir S, Zink F, Hjartarson E, Hardarson MT, Hjorleifsson KE, Eggertsson HP, Gudjonsson SA, Ward LD, Arnadottir GA, Helgason EA, Helgason H, Gylfason A, Jonasdottir A, Jonasdottir A, Rafnar T, Frigge M, Stacey SN, Th Magnusson O, Thorsteinsdottir U, Masson G, Kong A, Halldorsson BV, Helgason A, Gudbjartsson DF, Stefansson K.

Nature. 2017 Sep 28;549(7673):519-522. doi: 10.1038/nature24018. Epub 2017 Sep 20.

PMID:
28959963
4.

Whole genome characterization of sequence diversity of 15,220 Icelanders.

Jónsson H, Sulem P, Kehr B, Kristmundsdottir S, Zink F, Hjartarson E, Hardarson MT, Hjorleifsson KE, Eggertsson HP, Gudjonsson SA, Ward LD, Arnadottir GA, Helgason EA, Helgason H, Gylfason A, Jonasdottir A, Jonasdottir A, Rafnar T, Besenbacher S, Frigge ML, Stacey SN, Magnusson OT, Thorsteinsdottir U, Masson G, Kong A, Halldorsson BV, Helgason A, Gudbjartsson DF, Stefansson K.

Sci Data. 2017 Sep 21;4:170115. doi: 10.1038/sdata.2017.115.

5.

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
6.

Clonal hematopoiesis, with and without candidate driver mutations, is common in the elderly.

Zink F, Stacey SN, Norddahl GL, Frigge ML, Magnusson OT, Jonsdottir I, Thorgeirsson TE, Sigurdsson A, Gudjonsson SA, Gudmundsson J, Jonasson JG, Tryggvadottir L, Jonsson T, Helgason A, Gylfason A, Sulem P, Rafnar T, Thorsteinsdottir U, Gudbjartsson DF, Masson G, Kong A, Stefansson K.

Blood. 2017 Aug 10;130(6):742-752. doi: 10.1182/blood-2017-02-769869. Epub 2017 May 8.

7.

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
8.

Diversity in non-repetitive human sequences not found in the reference genome.

Kehr B, Helgadottir A, Melsted P, Jonsson H, Helgason H, Jonasdottir A, Jonasdottir A, Sigurdsson A, Gylfason A, Halldorsson GH, Kristmundsdottir S, Thorgeirsson G, Olafsson I, Holm H, Thorsteinsdottir U, Sulem P, Helgason A, Gudbjartsson DF, Halldorsson BV, Stefansson K.

Nat Genet. 2017 Apr;49(4):588-593. doi: 10.1038/ng.3801. Epub 2017 Feb 27.

PMID:
28250455
9.

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. 2016 Nov;48(11):1377-1384. doi: 10.1038/ng.3669. Epub 2016 Sep 19. Erratum in: Nat Genet. 2018 Nov;50(11):1616.

10.

HLA class II sequence variants influence tuberculosis risk in populations of European ancestry.

Sveinbjornsson G, Gudbjartsson DF, Halldorsson BV, Kristinsson KG, Gottfredsson M, Barrett JC, Gudmundsson LJ, Blondal K, Gylfason A, Gudjonsson SA, Helgadottir HT, Jonasdottir A, Jonasdottir A, Karason A, Kardum LB, Knežević J, Kristjansson H, Kristjansson M, Love A, Luo Y, Magnusson OT, Sulem P, Kong A, Masson G, Thorsteinsdottir U, Dembic Z, Nejentsev S, Blondal T, Jonsdottir I, Stefansson K.

Nat Genet. 2016 Mar;48(3):318-22. doi: 10.1038/ng.3498. Epub 2016 Feb 1.

11.

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
12.

Sequence variants from whole genome sequencing a large group of Icelanders.

Gudbjartsson DF, Sulem P, Helgason H, Gylfason A, Gudjonsson SA, Zink F, Oddson A, Magnusson G, Halldorsson BV, Hjartarson E, Sigurdsson GT, Kong A, Helgason A, Masson G, Magnusson OT, Thorsteinsdottir U, Stefansson K.

Sci Data. 2015 Mar 25;2:150011. doi: 10.1038/sdata.2015.11. eCollection 2015.

13.

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.

Nat Genet. 2015 May;47(5):435-44. doi: 10.1038/ng.3247. Epub 2015 Mar 25.

PMID:
25807286
14.

Heat-flux scaling in turbulent Rayleigh-Bénard convection with an imposed longitudinal wind.

Scagliarini A, Gylfason Á, Toschi F.

Phys Rev E Stat Nonlin Soft Matter Phys. 2014 Apr;89(4):043012. Epub 2014 Apr 11.

PMID:
24827337
15.

Identification of low-frequency variants associated with gout and serum uric acid levels.

Sulem P, Gudbjartsson DF, Walters GB, Helgadottir HT, Helgason A, Gudjonsson SA, Zanon C, Besenbacher S, Bjornsdottir G, Magnusson OT, Magnusson G, Hjartarson E, Saemundsdottir J, Gylfason A, Jonasdottir A, Holm H, Karason A, Rafnar T, Stefansson H, Andreassen OA, Pedersen JH, Pack AI, de Visser MC, Kiemeney LA, Geirsson AJ, Eyjolfsson GI, Olafsson I, Kong A, Masson G, Jonsson H, Thorsteinsdottir U, Jonsdottir I, Stefansson K.

Nat Genet. 2011 Oct 9;43(11):1127-30. doi: 10.1038/ng.972.

PMID:
21983786
16.

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.

Nat Genet. 2011 Oct 2;43(11):1104-7. doi: 10.1038/ng.955.

PMID:
21964575
17.

Identification of a specific intronic PEAR1 gene variant associated with greater platelet aggregability and protein expression.

Faraday N, Yanek LR, Yang XP, Mathias R, Herrera-Galeano JE, Suktitipat B, Qayyum R, Johnson AD, Chen MH, Tofler GH, Ruczinski I, Friedman AD, Gylfason A, Thorsteinsdottir U, Bray PF, O'Donnell CJ, Becker DM, Becker LC.

Blood. 2011 Sep 22;118(12):3367-75. doi: 10.1182/blood-2010-11-320788. Epub 2011 Jul 26.

18.

A rare variant in MYH6 is associated with high risk of sick sinus syndrome.

Holm H, Gudbjartsson DF, Sulem P, Masson G, Helgadottir HT, Zanon C, Magnusson OT, Helgason A, Saemundsdottir J, Gylfason A, Stefansdottir H, Gretarsdottir S, Matthiasson SE, Thorgeirsson GM, Jonasdottir A, Sigurdsson A, Stefansson H, Werge T, Rafnar T, Kiemeney LA, Parvez B, Muhammad R, Roden DM, Darbar D, Thorleifsson G, Walters GB, Kong A, Thorsteinsdottir U, Arnar DO, Stefansson K.

Nat Genet. 2011 Mar 6;43(4):316-20. doi: 10.1038/ng.781.

19.

Genetic correction of PSA values using sequence variants associated with PSA levels.

Gudmundsson J, Besenbacher S, Sulem P, Gudbjartsson DF, Olafsson I, Arinbjarnarson S, Agnarsson BA, Benediktsdottir KR, Isaksson HJ, Kostic JP, Gudjonsson SA, Stacey SN, Gylfason A, Sigurdsson A, Holm H, Bjornsdottir US, Eyjolfsson GI, Navarrete S, Fuertes F, Garcia-Prats MD, Polo E, Checherita IA, Jinga M, Badea P, Aben KK, Schalken JA, van Oort IM, Sweep FC, Helfand BT, Davis M, Donovan JL, Hamdy FC, Kristjansson K, Gulcher JR, Masson G, Kong A, Catalona WJ, Mayordomo JI, Geirsson G, Einarsson GV, Barkardottir RB, Jonsson E, Jinga V, Mates D, Kiemeney LA, Neal DE, Thorsteinsdottir U, Rafnar T, Stefansson K.

Sci Transl Med. 2010 Dec 15;2(62):62ra92. doi: 10.1126/scitranslmed.3001513.

20.

Fine-scale recombination rate differences between sexes, populations and individuals.

Kong A, Thorleifsson G, Gudbjartsson DF, Masson G, Sigurdsson A, Jonasdottir A, Walters GB, Jonasdottir A, Gylfason A, Kristinsson KT, Gudjonsson SA, Frigge ML, Helgason A, Thorsteinsdottir U, Stefansson K.

Nature. 2010 Oct 28;467(7319):1099-103. doi: 10.1038/nature09525.

PMID:
20981099

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