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Items: 1 to 20 of 76

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.

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.

3.

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
4.

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.

5.

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.

6.

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
7.

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.

8.

Genome-wide common and rare variant analysis provides novel insights into clozapine-associated neutropenia.

Legge SE, Hamshere ML, Ripke S, Pardinas AF, Goldstein JI, Rees E, Richards AL, Leonenko G, Jorskog LF; Clozapine-Induced Agranulocytosis Consortium, Chambert KD, Collier DA, Genovese G, Giegling I, Holmans P, Jonasdottir A, Kirov G, McCarroll SA, MacCabe JH, Mantripragada K, Moran JL, Neale BM, Stefansson H, Rujescu D, Daly MJ, Sullivan PF, Owen MJ, O'Donovan MC, Walters JTR.

Mol Psychiatry. 2018 Jan;23(1):162-163. doi: 10.1038/mp.2017.214. Epub 2017 Oct 24.

9.

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.

10.

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.

11.

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
12.

Graphtyper enables population-scale genotyping using pangenome graphs.

Eggertsson HP, Jonsson H, Kristmundsdottir S, Hjartarson E, Kehr B, Masson G, Zink F, Hjorleifsson KE, Jonasdottir A, Jonasdottir A, Jonsdottir I, Gudbjartsson DF, Melsted P, Stefansson K, Halldorsson BV.

Nat Genet. 2017 Nov;49(11):1654-1660. doi: 10.1038/ng.3964. Epub 2017 Sep 25.

PMID:
28945251
13.

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.

14.

Corrigendum: Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis.

Styrkarsdottir U, Helgason H, Sigurdsson A, Norddahl GL, Agustsdottir AB, Reynard LN, Villalvilla A, Halldorsson GH, Jonasdottir A, Magnusdottir A, Oddson A, Sulem G, Zink F, Sveinbjornsson G, Helgason A, Johannsdottir HS, Helgadottir A, Stefansson H, Gretarsdottir S, Rafnar T, Almdahl IS, Brækhus A, Fladby T, Selbæk G, Hosseinpanah F, Azizi F, Koh JM, Tang NLS, Danesphour M, Mayordomo JI, Welt C, Braund PS, Samani NJ, Kiemeney LA, Lohmander LS, Christiansen C, Andreassen OA, Consortium A, Magnusson O, Masson G, Kong A, Jonsdottir I, Gudbjartsson D, Sulem P, Jonsson H, Loughlin J, Ingvarsson T, Thorsteinsdottir U, Stefansson K.

Nat Genet. 2017 Jul 27;49(8):1286. doi: 10.1038/ng0817-1286b. No abstract available.

PMID:
28747754
15.

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
16.

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
17.

Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis.

Styrkarsdottir U, Helgason H, Sigurdsson A, Norddahl GL, Agustsdottir AB, Reynard LN, Villalvilla A, Halldorsson GH, Jonasdottir A, Magnusdottir A, Oddson A, Sulem G, Zink F, Sveinbjornsson G, Helgason A, Johannsdottir HS, Helgadottir A, Stefansson H, Gretarsdottir S, Rafnar T, Almdahl IS, Brækhus A, Fladby T, Selbæk G, Hosseinpanah F, Azizi F, Koh JM, Tang NLS, Daneshpour MS, Mayordomo JI, Welt C, Braund PS, Samani NJ, Kiemeney LA, Lohmander LS, Christiansen C, Andreassen OA; arcOGEN consortium, Magnusson O, Masson G, Kong A, Jonsdottir I, Gudbjartsson D, Sulem P, Jonsson H, Loughlin J, Ingvarsson T, Thorsteinsdottir U, Stefansson K.

Nat Genet. 2017 May;49(5):801-805. doi: 10.1038/ng.3816. Epub 2017 Mar 20. Erratum in: Nat Genet. 2017 Jul 27;49(8):1286.

PMID:
28319091
18.

A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma.

Smith D, Helgason H, Sulem P, Bjornsdottir US, Lim AC, Sveinbjornsson G, Hasegawa H, Brown M, Ketchem RR, Gavala M, Garrett L, Jonasdottir A, Jonasdottir A, Sigurdsson A, Magnusson OT, Eyjolfsson GI, Olafsson I, Onundarson PT, Sigurdardottir O, Gislason D, Gislason T, Ludviksson BR, Ludviksdottir D, Boezen HM, Heinzmann A, Krueger M, Porsbjerg C, Ahluwalia TS, Waage J, Backer V, Deichmann KA, Koppelman GH, Bønnelykke K, Bisgaard H, Masson G, Thorsteinsdottir U, Gudbjartsson DF, Johnston JA, Jonsdottir I, Stefansson K.

PLoS Genet. 2017 Mar 8;13(3):e1006659. doi: 10.1371/journal.pgen.1006659. eCollection 2017 Mar.

19.

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
20.

Multi-nucleotide de novo Mutations in Humans.

Besenbacher S, Sulem P, Helgason A, Helgason H, Kristjansson H, Jonasdottir A, Jonasdottir A, Magnusson OT, Thorsteinsdottir U, Masson G, Kong A, Gudbjartsson DF, Stefansson K.

PLoS Genet. 2016 Nov 15;12(11):e1006315. doi: 10.1371/journal.pgen.1006315. eCollection 2016 Nov.

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