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American Journal of Human Genetics|May 14, 2026
A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicineMengqi Wang, Shaimaa Helal, Arteen Torabi-Marashi, et al.
Nature Genetics|May 11, 2021
Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traitsDoruk Beyter, Helga Ingimundardottir, Asmundur Oddsson, et al.
Communications Biology|October 2, 2018
A rare missense variant in NR1H4 associates with lower cholesterol levelsAimee M Deaton, Patrick Sulem, Paul Nioi, et al.
Journal of the American College of Cardiology|December 24, 2019
Lipoprotein(a) Concentration and Risks of Cardiovascular Disease and DiabetesDaniel F Gudbjartsson, Gudmundur Thorgeirsson, Patrick Sulem, et al.
Nature Communications|December 4, 2018
Genome-wide association meta-analysis yields 20 loci associated with gallstone diseaseEgil Ferkingstad, Asmundur Oddsson, Solveig Gretarsdottir, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|July 14, 2026
Clinical and Psychological Outcomes After Monoclonal Gammopathy Screening: A Population-Based Screening Study and Subsequent Randomized Trial of Follow-UpSæmundur Rögnvaldsson, Sigrún Thorsteinsdóttir, Elias Eythorsson, et al.
Nature Communications|March 3, 2023
Tandem mass tag-based quantitative proteomic profiling identifies candidate serum biomarkers of drug-induced liver injury in humansKodihalli C Ravindra, Vishal S Vaidya, Zhenyu Wang, et al.
Diagnostic and Prognostic Research|September 12, 2023
Study design for development of novel safety biomarkers of drug-induced liver injury by the translational safety biomarker pipeline (TransBioLine) consortium: a study protocol for a nested case-control studyJane I Grove, Camilla Stephens, M Isabel Lucena, et al.
Nature Genetics|March 26, 2015
Loss-of-function variants in ABCA7 confer risk of Alzheimer's diseaseStacy Steinberg, Hreinn Stefansson, Thorlakur Jonsson, et al.
Nature Communications|February 5, 2022
Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome geneGudny A Arnadottir, Asmundur Oddsson, Brynjar O Jensson, et al.
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