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

Hákon Jónsson , Patrick Sulem , Birte Kehr , Snaedis Kristmundsdottir
Scientific Data 4 ( 1) 170115 -170115

104
2017
Parental influence on human germline de novo mutations in 1,548 trios from Iceland

Hákon Jónsson , Patrick Sulem , Birte Kehr , Snaedis Kristmundsdottir
Nature 549 ( 7673) 519 -522

653
2017
Multiple transmissions of de novo mutations in families.

Hákon Jónsson , Patrick Sulem , Gudny A. Arnadottir , Gunnar Pálsson
Nature Genetics 50 ( 12) 1674 -1680

39
2018
The effect of SNPs on expression levels in Nimblegen RNA expression microarrays

Sigrun Helga Lund , Asgeir Sigurdsson , Sigurjon Axel Gudjonsson , Julius Gudmundsson
International Journal of Data Mining and Bioinformatics 12 ( 1) 1 -13

2015
Recurrence of de novo mutations in families

Hákon Jónsson , Patrick Sulem , Gudny A. Arnadottir , Gunnar Pálsson
bioRxiv 221259

2
2017
A Method for Detecting Long Non-Coding RNAs with Tiled RNA Expression Microarrays

Sigrun Helga Lund , Daniel Fannar Gudbjartsson , Thorunn Rafnar , Asgeir Sigurdsson
PLoS ONE 9 ( 6) e99899

6
2014
HLA class II sequence variants influence tuberculosis risk in populations of European ancestry

Gardar Sveinbjornsson , Daniel F Gudbjartsson , Bjarni V Halldorsson , Karl G Kristinsson
Nature Genetics 48 ( 3) 318 -322

76
2016
Estimating robustness of the tileShuffle method with repeated probes

Sigrun Helga Lund , Asgeir Sigurdsson , Sigurjon Axel Gudjonsson , Julius Gudmundsson
arXiv preprint arXiv:1403.3028

2
2014
A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome

Elin Ola Klemenzdottir , Gudny Anna Arnadottir , Brynjar Orn Jensson , Adalbjorg Jonasdottir
European Journal of Human Genetics 32 ( 1) 44 -51

3
2024
The correlation between CpG methylation and gene expression is driven by sequence variants

Olafur Andri Stefansson , Brynja Dogg Sigurpalsdottir , Solvi Rognvaldsson , Gisli Hreinn Halldorsson
Nature Genetics 1 -8

2024
Weighting sequence variants based on their annotation increases power of whole-genome association studies

Gardar Sveinbjornsson , Anders Albrechtsen , Florian Zink , Sigurjón A Gudjonsson
Nature Genetics 48 ( 3) 314 -317

127
2016
Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.

Hrafnhildur L Runolfsdottir , John A Sayer , Olafur S Indridason , Vidar O Edvardsson
European Journal of Human Genetics 1 -10

2021
Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer.

Simon N Stacey , Andrei Manolescu , Patrick Sulem , Thorunn Rafnar
Nature Genetics 39 ( 7) 865 -869

697
2007
Segmental duplication density decrease with distance to human-mouse breaks of synteny

Jesus Sainz , Pavol Rovensky , Sigurjon A Gudjonsson , Gudmar Thorleifsson
European Journal of Human Genetics 14 ( 2) 216 -221

6
2006
Sequence variants from whole genome sequencing a large group of Icelanders.

Daniel F Gudbjartsson , Patrick Sulem , Hannes Helgason , Arnaldur Gylfason
Scientific Data 2 ( 1) 150011 -150011

71
2015
A sequence variant on 17q21 is associated with age at onset and severity of asthma

Eva Halapi , Daniel F Gudbjartsson , Gudrun M Jonsdottir , Unnur S Bjornsdottir
European Journal of Human Genetics 18 ( 8) 902 -908

115
2010
Identification of sequence variants influencing immunoglobulin levels.

Stefan Jonsson , Gardar Sveinbjornsson , Aitzkoa Lopez de Lapuente Portilla , Bhairavi Swaminathan
Nature Genetics 49 ( 8) 1182 -1191

74
2017
New common variants affecting susceptibility to basal cell carcinoma

Simon N Stacey , Patrick Sulem , Gisli Masson , Sigurjon A Gudjonsson
Nature Genetics 41 ( 8) 909 -914

284
2009
Several common variants modulate heart rate, PR interval and QRS duration

Hilma Holm , Daniel F Gudbjartsson , David O Arnar , Gudmar Thorleifsson
Nature Genetics 42 ( 2) 117 -122

330
2010
A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer.

Lambertus A Kiemeney , Patrick Sulem , Soren Besenbacher , Sita H Vermeulen
Nature Genetics 42 ( 5) 415 -419

219
2010