|
| 37301908 | Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality. | Nat Commun | 2023 |
| 37606673 | Evaluation of Large-Scale Proteomics for Prediction of Cardiovascular Events. | JAMA | 2023 |
| 37596405 | Histopathology and levels of proteins in plasma associate with survival after colorectal cancer diagnosis. | Br J Cancer | 2023 |
| 37794188 | Large-scale plasma proteomics comparisons through genetics and disease associations. | Nature | 2023 |
| 37400429 | Publisher Correction: Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality. | Nat Commun | 2023 |
| 37244984 | DanMAC5: a browser of aggregated sequence variants from 8,671 whole genome sequenced Danish individuals. | BMC Genom Data | 2023 |
| 35121750 | Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene. | Nat Commun | 2022 |
| 36182700 | The population genomic legacy of the second plague pandemic. | Curr Biol | 2022 |
| 36171188 | Effect of booster vaccination against Delta and Omicron SARS-CoV-2 variants in Iceland. | Nat Commun | 2022 |
| 35859178 | The sequences of 150,119 genomes in the UK Biobank. | Nature | 2022 |
| 36513657 | Author Correction: Functional dissection of inherited non-coding variation influencing multiple myeloma risk. | Nat Commun | 2022 |
| 35182757 | Reconstruction of a large-scale outbreak of SARS-CoV-2 infection in Iceland informs vaccination strategies. | Clin Microbiol Infect | 2022 |
| 35013207 | Functional dissection of inherited non-coding variation influencing multiple myeloma risk. | Nat Commun | 2022 |
| 34857953 | Large-scale integration of the plasma proteome with genetics and disease. | Nat Genet | 2021 |
| 33972781 | Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits. | Nat Genet | 2021 |
| 33751844 | Peripheral blood transcriptome profiling enables monitoring disease progression in dystrophic mice and patients. | EMBO Mol Med | 2021 |
| 34131116 | Molecular benchmarks of a SARS-CoV-2 epidemic. | Nat Commun | 2021 |
| 33315477 | Lifelong Reduction in LDL (Low-Density Lipoprotein) Cholesterol due to a Gain-of-Function Mutation in <i>LDLR</i>. | Circ Genom Precis Med | 2021 |
| 33414551 | Differences between germline genomes of monozygotic twins. | Nat Genet | 2021 |
| 34462577 | Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database. | Eur J Hum Genet | 2021 |
| 33049588 | Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia. | Parkinsonism and Related Disorders | 2020 |
| 32289214 | Spread of SARS-CoV-2 in the Icelandic Population. | N Engl J Med | 2020 |
| 31666285 | Common and Rare Sequence Variants Influencing Tumor Biomarkers in Blood. | Cancer Epidemiol Biomarkers Prev | 2020 |
| 32702746 | Genetic variability in the absorption of dietary sterols affects the risk of coronary artery disease. | Eur Heart J | 2020 |
| 32871063 | Humoral Immune Response to SARS-CoV-2 in Iceland. | N Engl J Med | 2020 |
| 30992453 | A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy. | Nat Commun | 2019 |
| 30643255 | A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis. | Nat Genet | 2019 |
| 29853688 | Ancient genomes from Iceland reveal the making of a human population. | Science | 2018 |
| 30361506 | A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease. | Nat Commun | 2018 |
| 29929540 | Transcriptional profiling and biomarker identification reveal tissue specific effects of expanded ataxin-3 in a spinocerebellar ataxia type 3 mouse model. | Mol Neurodegener | 2018 |
| 30397338 | Multiple transmissions of de novo mutations in families. | Nat Genet | 2018 |
| 30349119 | Insights into imprinting from parent-of-origin phased methylomes and transcriptomes. | Nat Genet | 2018 |
| 29858556 | Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies. | Hum Mutat | 2018 |
| 28223688 | Sequence variant at 8q24.21 associates with sciatica caused by lumbar disc herniation. | Nat Commun | 2017 |
| 28959963 | Parental influence on human germline de novo mutations in 1,548 trios from Iceland. | Nature | 2017 |
| 28544275 | Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia. | Hum Mutat | 2017 |
| 28933420 | Whole genome characterization of sequence diversity of 15,220 Icelanders. | Sci Data | 2017 |
| 28747754 | Corrigendum: Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis. | Nat Genet | 2017 |
| 28483762 | Clonal hematopoiesis, with and without candidate driver mutations, is common in the elderly. | Blood | 2017 |
| 28877744 | Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy. | Orphanet J Rare Dis | 2017 |
| 28965491 | Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters. | BMC Med Genet | 2017 |
| 28398513 | A rare splice donor mutation in the haptoglobin gene associates with blood lipid levels and coronary artery disease. | Hum Mol Genet | 2017 |
| 28319091 | Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis. | Nat Genet | 2017 |
| 29137621 | COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA. | BMC Med Genet | 2017 |
| 28273074 | A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma. | PLoS Genet | 2017 |
| 27742809 | A frameshift deletion in the sarcomere gene MYL4 causes early-onset familial atrial fibrillation. | Eur Heart J | 2017 |
| 27912047 | Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis. | American Journal of Human Genetics | 2016 |
| 26838040 | Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase. | Nat Commun | 2016 |
| 26740556 | Insertion of an SVA-E retrotransposon into the CASP8 gene is associated with protection against prostate cancer. | Hum Mol Genet | 2016 |
| 27089180 | Physical and neurobehavioral determinants of reproductive onset and success. | Nat Genet | 2016 |