Genetic predisposition to mosaic Y chromosome loss in blood DJ Thompson, G Genovese, J Halvardson, JC Ulirsch, DJ Wright, C Terao, ... Nature 575 (7784), 652-657, 2019 | 214 | 2019 |
Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits D Beyter, H Ingimundardottir, A Oddsson, HP Eggertsson, E Bjornsson, ... Nature genetics 53 (6), 779-786, 2021 | 207 | 2021 |
Identification of common genetic variants influencing spontaneous dizygotic twinning and female fertility H Mbarek, S Steinberg, DR Nyholt, SD Gordon, MB Miller, AF McRae, ... The American Journal of Human Genetics 98 (5), 898-908, 2016 | 129 | 2016 |
A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis RP Kristjansson, S Benonisdottir, OB Davidsson, A Oddsson, V Tragante, ... Nature genetics 51 (2), 267-276, 2019 | 101 | 2019 |
A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease GA Arnadottir, GL Norddahl, S Gudmundsdottir, AB Agustsdottir, ... Nature Communications 9 (1), 4447, 2018 | 100 | 2018 |
Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits T Rafnar, B Gunnarsson, OA Stefansson, P Sulem, A Ingason, ML Frigge, ... Nature communications 9 (1), 3636, 2018 | 92 | 2018 |
Genome-wide association meta-analysis yields 20 loci associated with gallstone disease E Ferkingstad, A Oddsson, S Gretarsdottir, S Benonisdottir, G Thorleifsson, ... Nature communications 9 (1), 5101, 2018 | 87 | 2018 |
Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase RP Kristjansson, A Oddsson, H Helgason, G Sveinbjornsson, ... Nature communications 7 (1), 10572, 2016 | 84 | 2016 |
Epigenetic and genetic components of height regulation S Benonisdottir, A Oddsson, A Helgason, RP Kristjansson, ... Nature communications 7 (1), 13490, 2016 | 64 | 2016 |
Coding variants in RPL3L and MYZAP increase risk of atrial fibrillation RB Thorolfsdottir, G Sveinbjornsson, P Sulem, JB Nielsen, S Jonsson, ... Communications biology 1 (1), 68, 2018 | 52 | 2018 |
COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA BO Jensson, S Hansdottir, GA Arnadottir, G Sulem, RP Kristjansson, ... BMC medical genetics 18, 1-5, 2017 | 52 | 2017 |
Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis GR Oskarsson, A Oddsson, MK Magnusson, RP Kristjansson, ... Communications Biology 3 (1), 189, 2020 | 35 | 2020 |
Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters GA Arnadottir, BO Jensson, SE Marelsson, G Sulem, A Oddsson, ... BMC medical genetics 18, 1-5, 2017 | 31 | 2017 |
Sequence variants associating with urinary biomarkers S Benonisdottir, RP Kristjansson, A Oddsson, V Steinthorsdottir, ... Human Molecular Genetics 28 (7), 1199-1211, 2019 | 26 | 2019 |
Sequence variants in TAAR5 and other loci affect human odor perception and naming RS Gisladottir, EV Ivarsdottir, A Helgason, L Jonsson, NK Hannesdottir, ... Current Biology 30 (23), 4643-4653. e3, 2020 | 25 | 2020 |
Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank T Olafsdottir, G Thorleifsson, P Sulem, OA Stefansson, H Medek, ... Communications Biology 3 (1), 129, 2020 | 23 | 2020 |
A rare splice donor mutation in the haptoglobin gene associates with blood lipid levels and coronary artery disease E Bjornsson, H Helgason, G Halldorsson, A Helgadottir, A Gylfason, ... Human molecular genetics 26 (12), 2364-2376, 2017 | 21 | 2017 |
Sequence variant at 4q25 near PITX2 associates with appendicitis RP Kristjansson, S Benonisdottir, A Oddsson, TE Galesloot, ... Scientific Reports 7 (1), 3119, 2017 | 16 | 2017 |
A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin GR Oskarsson, RP Kristjansson, AL Lee, G Sveinbjornsson, ... Communications Biology 1 (1), 49, 2018 | 13 | 2018 |
A rare missense variant in NR1H4 associates with lower cholesterol levels AM Deaton, P Sulem, P Nioi, S Benonisdottir, LD Ward, OB Davidsson, ... Communications Biology 1 (1), 14, 2018 | 8 | 2018 |